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Genetic Epilepsy v1.108 HECTD1 Zornitza Stark Marked gene: HECTD1 as ready
Genetic Epilepsy v1.108 HECTD1 Zornitza Stark Gene: hectd1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.108 C12orf66 Zornitza Stark Marked gene: C12orf66 as ready
Genetic Epilepsy v1.108 C12orf66 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name is KICS2
Genetic Epilepsy v1.108 C12orf66 Zornitza Stark Gene: c12orf66 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.108 C12orf66 Zornitza Stark Tag new gene name tag was added to gene: C12orf66.
Genetic Epilepsy v1.108 C12orf66 Chirag Patel Classified gene: C12orf66 as Green List (high evidence)
Genetic Epilepsy v1.108 C12orf66 Chirag Patel Gene: c12orf66 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.108 C12orf66 Chirag Patel Classified gene: C12orf66 as Green List (high evidence)
Genetic Epilepsy v1.108 C12orf66 Chirag Patel Gene: c12orf66 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.107 C12orf66 Chirag Patel gene: C12orf66 was added
gene: C12orf66 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: C12orf66 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C12orf66 were set to PMID: 39824192
Phenotypes for gene: C12orf66 were set to Neurodevelopmental disorder MONDO:0700092
Review for gene: C12orf66 was set to GREEN
Added comment: 11 individuals from 8 families with mild to moderate intellectual disability (11/11), epilepsy (8/11), hearing impairment (3/11), macrocephaly (2/11), facial dysmorphism (6/6).

WES/WGS identified biallelic variants (missense, nonsense, and large deletion) in KICS2 gene (aka C12ORF66). The KICS2 protein is part of the KICSTOR complex which recruits GATOR1 to lysosomes and inhibits mTORC1 activity. Overactivation of the mTORC1 pathway is a recognized cause of several neurodevelopmental disorders.

The variants in the individuals partly affected KICS2 stability, compromised KICSTOR complex formation, and demonstrated a deleterious impact on nutrient-dependent mTORC1 regulation of 4EBP1 and S6K. Phosphoproteome analyses extended these findings to show that KICS2 variants changed the mTORC1 proteome, affecting proteins that function in translation, splicing, and ciliogenesis. Depletion of Kics2 in zebrafish resulted in ciliary dysfunction consistent with a role of mTORC1 in cilia biology.
Sources: Literature
Genetic Epilepsy v1.106 HECTD1 Chirag Patel Classified gene: HECTD1 as Green List (high evidence)
Genetic Epilepsy v1.106 HECTD1 Chirag Patel Gene: hectd1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.105 HECTD1 Chirag Patel Classified gene: HECTD1 as Green List (high evidence)
Genetic Epilepsy v1.105 HECTD1 Chirag Patel Gene: hectd1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.105 HECTD1 Chirag Patel Classified gene: HECTD1 as Green List (high evidence)
Genetic Epilepsy v1.105 HECTD1 Chirag Patel Gene: hectd1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.104 HECTD1 Chirag Patel gene: HECTD1 was added
gene: HECTD1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: HECTD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HECTD1 were set to PMID: 39879987
Phenotypes for gene: HECTD1 were set to Neurodevelopmental disorder MONDO:0700092
Review for gene: HECTD1 was set to GREEN
Added comment: 14 unrelated individuals (identified through GeneMatcher) with 15 variants of uncertain significance (VUS) in HECTD1 (10 missense, 3 frameshift, 1 nonsense, and 1 splicing variant). Of the 15 different variants in HECTD1, 10 occurred de novo, 3 had unknown inheritance, and 2 were compound heterozygous. All variants were absent in gnomAD, and HECTD1 is highly intolerant to loss-of-function variation (loss-of-function-intolerant score of 1). Clinical presentation was variable developmental delay, intellectual disability, autism spectrum disorder, ADHD, and epilepsy.

The one individual with compound heterozygous variants had growth impairment along with NDD. The variants were inherited from apparently healthy parents, suggesting that genetic or environmental modifiers may be required to develop the phenotype.

Significant enrichment of de novo variants in HECTD1 was also shown in an independent cohort of 53,305 published trios with NDDs or congenital heart disease.

HECT-domain-containing protein 1 (HECTD1) mediates developmental pathways, including cell signalling, gene expression, and embryogenesis. Conditional knockout of Hectd1 in the neural lineage in mice resulted in microcephaly, severe hippocampal malformations, and complete agenesis of the corpus callosum, supporting a role for Hectd1 in embryonic brain development. Functional studies of 2 missense variants and 1 nonsense variant in C. elegans revealed dominant effects, including either change-of-function or loss-of-function/haploinsufficient mechanisms.
Sources: Literature
Genetic Epilepsy v1.103 USP25 Zornitza Stark Phenotypes for gene: USP25 were changed from Epilepsy, idiopathic generalized, MONDO:0005579, USP25-related to {Epilepsy, idiopathic generalized, susceptibility to, 19} MIM#621064
Genetic Epilepsy v1.102 USP25 Zornitza Stark edited their review of gene: USP25: Changed phenotypes: {Epilepsy, idiopathic generalized, susceptibility to, 19} MIM#621064
Genetic Epilepsy v1.102 GTF3C3 Zornitza Stark Classified gene: GTF3C3 as Green List (high evidence)
Genetic Epilepsy v1.102 GTF3C3 Zornitza Stark Gene: gtf3c3 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.102 GTF3C3 Zornitza Stark Classified gene: GTF3C3 as Green List (high evidence)
Genetic Epilepsy v1.102 GTF3C3 Zornitza Stark Gene: gtf3c3 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.101 GTF3C3 Zornitza Stark Marked gene: GTF3C3 as ready
Genetic Epilepsy v1.101 GTF3C3 Zornitza Stark Gene: gtf3c3 has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.101 GTF3C3 Zornitza Stark reviewed gene: GTF3C3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder MONDO:0700092, GTF3C3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.101 TRPM7 Zornitza Stark Marked gene: TRPM7 as ready
Genetic Epilepsy v1.101 TRPM7 Zornitza Stark Gene: trpm7 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.101 TRPM7 Zornitza Stark Classified gene: TRPM7 as Green List (high evidence)
Genetic Epilepsy v1.101 TRPM7 Zornitza Stark Gene: trpm7 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.100 TRPM7 Zornitza Stark Classified gene: TRPM7 as Green List (high evidence)
Genetic Epilepsy v1.100 TRPM7 Zornitza Stark Gene: trpm7 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.99 TRPM7 Zornitza Stark gene: TRPM7 was added
gene: TRPM7 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TRPM7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPM7 were set to 35561741; 35712613; 39099563; 37188671
Phenotypes for gene: TRPM7 were set to Familial primary hypomagnesaemia, MONDO:0018100, TRPM7-related
Review for gene: TRPM7 was set to GREEN
Added comment: Protein expressed in the distal tubule, related to TRPM6. Postulated link with hypoMg with secondary hypoCa.
PMID 35561741: two families reported with dominant inheritance. F1: three affected individuals with splicing variant; some supportive functional data. F2: single affected individual, de novo missense variant.
PMID 35712613: de novo missense variant in an individual with hypoMg.
PMID 39099563: three affected individuals with missense variants, all de novo. Probands had DD, two had seizures.
PMID 37188671: mouse model investigating role in HypoMg and seizure-related death.
Sources: Literature
Genetic Epilepsy v1.97 GTF3C3 Chirag Patel gene: GTF3C3 was added
gene: GTF3C3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GTF3C3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF3C3 were set to PMID: 39636576
Phenotypes for gene: GTF3C3 were set to Neurodevelopmental disorder MONDO:0700092, GTF3C3-related
Review for gene: GTF3C3 was set to GREEN
Added comment: 12 affected individuals from 7 unrelated families with homozygous or compound heterozygous missense variants in GTF3C3. Presentation with intellectual disability, variable nonfamilial facial features, motor impairments, seizures, and cerebellar/corpus callosum malformations.
Sources: Literature
Genetic Epilepsy v1.97 GTF3C3 Chirag Patel gene: GTF3C3 was added
gene: GTF3C3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GTF3C3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF3C3 were set to PMID: 39636576
Phenotypes for gene: GTF3C3 were set to Neurodevelopmental disorder MONDO:0700092, GTF3C3-related
Review for gene: GTF3C3 was set to GREEN
Added comment: 12 affected individuals from 7 unrelated families with homozygous or compound heterozygous missense variants in GTF3C3. Presentation with intellectual disability, variable nonfamilial facial features, motor impairments, seizures, and cerebellar/corpus callosum malformations.
Sources: Literature
Genetic Epilepsy v1.97 GTF3C3 Chirag Patel gene: GTF3C3 was added
gene: GTF3C3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GTF3C3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF3C3 were set to PMID: 39636576
Phenotypes for gene: GTF3C3 were set to Neurodevelopmental disorder MONDO:0700092, GTF3C3-related
Added comment: 12 affected individuals from 7 unrelated families with homozygous or compound heterozygous missense variants in GTF3C3. Presentation with intellectual disability, variable nonfamilial facial features, motor impairments, seizures, and cerebellar/corpus callosum malformations.
Sources: Literature
Genetic Epilepsy v1.96 INPP4A Chirag Patel Classified gene: INPP4A as Green List (high evidence)
Genetic Epilepsy v1.96 INPP4A Chirag Patel Gene: inpp4a has been classified as Green List (High Evidence).
Genetic Epilepsy v1.96 INPP4A Chirag Patel Classified gene: INPP4A as Green List (high evidence)
Genetic Epilepsy v1.96 INPP4A Chirag Patel Gene: inpp4a has been classified as Green List (High Evidence).
Genetic Epilepsy v1.96 INPP4A Chirag Patel Classified gene: INPP4A as Green List (high evidence)
Genetic Epilepsy v1.96 INPP4A Chirag Patel Gene: inpp4a has been classified as Green List (High Evidence).
Genetic Epilepsy v1.96 INPP4A Chirag Patel Classified gene: INPP4A as Green List (high evidence)
Genetic Epilepsy v1.96 INPP4A Chirag Patel Gene: inpp4a has been classified as Green List (High Evidence).
Genetic Epilepsy v1.95 INPP4A Chirag Patel gene: INPP4A was added
gene: INPP4A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: INPP4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INPP4A were set to PMID: 39315527
Phenotypes for gene: INPP4A were set to INPP4A-related neurodevelopmental disorder
Review for gene: INPP4A was set to GREEN
Added comment: PMID: 39315527
30 individuals (aged 6 months to 40 years) from 17 unrelated families with biallelic LOF variants in INPP4A gene (11 nonsense or frameshift and 3 missense, mostly exon 4).

Cardinal clinical features include: severe global developmental delay, profound speech impairment, severe-profound intellectual disability, and severe lower limb weakness/paralysis. More variable clinical features include: microcephaly, short stature, cerebellar signs, involuntary movements, axial hypotonia, spasticity, quadriparesis, joint contractures, seizures, visual impairment. Neuroimaging findings vary from normal to features of (ponto)cerebellar hypoplasia, ventriculomegaly, reduced cerebral volume and hypomyelination. A more severe presentation is seen with variants downstream of exon 4.

Preliminary fibroblast cell studies identify disruption of endocytic pathways as the likely mechanism of disease, consistent with previous findings of a role of INPP4A in endocytosis. All mouse models display a phenotype mirroring human INPP4A-related neurodevelopmental disorder entailing a severe movement disorder with inability to walk, a small brain, and poor growth/weight gain.
Sources: Literature
Genetic Epilepsy v1.94 EEFSEC Zornitza Stark Marked gene: EEFSEC as ready
Genetic Epilepsy v1.94 EEFSEC Zornitza Stark Gene: eefsec has been classified as Green List (High Evidence).
Genetic Epilepsy v1.94 EEFSEC Zornitza Stark Classified gene: EEFSEC as Green List (high evidence)
Genetic Epilepsy v1.94 EEFSEC Zornitza Stark Gene: eefsec has been classified as Green List (High Evidence).
Genetic Epilepsy v1.93 EEFSEC Zornitza Stark gene: EEFSEC was added
gene: EEFSEC was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: EEFSEC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EEFSEC were set to 39753114
Phenotypes for gene: EEFSEC were set to Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related
Review for gene: EEFSEC was set to GREEN
Added comment: Nine individuals from 8 unrelated families reported with bi-allelic variants in this gene and progressive neurodevelopmental disorder manifesting with global developmental delay, progressive spasticity, ataxia, and seizures. Cerebral MRI primarily demonstrated a cerebellar pathology, including hypoplasia and progressive atrophy. In line with the clinical phenotype, an eEFSec-RNAi Drosophila model displays progressive impairment of motor function, which is reflected in the synaptic defects in this model organisms.
Sources: Literature
Genetic Epilepsy v1.92 CCT3 Zornitza Stark Phenotypes for gene: CCT3 were changed from neurodevelopmental disorder MONDO:0700092, CCT3-related to Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MIM# 621034
Genetic Epilepsy v1.91 CCT3 Zornitza Stark reviewed gene: CCT3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MIM# 621034; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.91 TCP1 Zornitza Stark Phenotypes for gene: TCP1 were changed from neurodevelopmental disorder MONDO:0700092, TCP1-related to Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021
Genetic Epilepsy v1.90 TCP1 Zornitza Stark reviewed gene: TCP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.90 EP400 Bryony Thompson Marked gene: EP400 as ready
Genetic Epilepsy v1.90 EP400 Bryony Thompson Gene: ep400 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.90 EP400 Bryony Thompson Classified gene: EP400 as Green List (high evidence)
Genetic Epilepsy v1.90 EP400 Bryony Thompson Gene: ep400 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.89 EP400 Sangavi Sivagnanasundram gene: EP400 was added
gene: EP400 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: EP400 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EP400 were set to 39708813
Phenotypes for gene: EP400 were set to neurodevelopmental disorder with or without early-onset generalized epilepsy - MONDO:0030930
Review for gene: EP400 was set to GREEN
Added comment: 6 unrelated probands presenting with epilepsy with NDD had compound heterozygous variants in EP400. They were confirmed in trans and inherited from their asymptomatic parents.

Knockdown of EP400 ortholog in Drosophila showed an increase in seizure-like susceptibility and abnormal neurological behaviour.
Sources: Literature
Genetic Epilepsy v1.89 UBR5 Bryony Thompson Marked gene: UBR5 as ready
Genetic Epilepsy v1.89 UBR5 Bryony Thompson Gene: ubr5 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.89 UBR5 Bryony Thompson Classified gene: UBR5 as Green List (high evidence)
Genetic Epilepsy v1.89 UBR5 Bryony Thompson Gene: ubr5 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.88 UBR5 Bryony Thompson gene: UBR5 was added
gene: UBR5 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: UBR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBR5 were set to 39721588
Phenotypes for gene: UBR5 were set to Neurodevelopmental disorder MONDO:0700092, UBR5-related
Review for gene: UBR5 was set to GREEN
Added comment: 29 individuals with a neurodevelopment syndrome (24 de novo variants) with a core phenotype characterised by developmental delay (26/28), autism (16/26), and intellectual disability (56%). Additionally, some individuals presented with epilepsy/seizures (11/27), movement disorders, and/or genital anomalies (35%). Loss of function is the expected mechanism of disease with functional experiments in C. elegans and in vitro ubiquitination assays.
Sources: Literature
Genetic Epilepsy v1.87 PIGG Ain Roesley Phenotypes for gene: PIGG were changed from Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy MIM#616917 to Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy MIM#616917
Genetic Epilepsy v1.86 PIGG Ain Roesley Phenotypes for gene: PIGG were changed from Mental retardation, autosomal recessive 53, MIM#616917 to Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy MIM#616917
Genetic Epilepsy v1.85 USP25 Zornitza Stark Marked gene: USP25 as ready
Genetic Epilepsy v1.85 USP25 Zornitza Stark Gene: usp25 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.85 CCT6A Ain Roesley Classified gene: CCT6A as Amber List (moderate evidence)
Genetic Epilepsy v1.85 CCT6A Ain Roesley Gene: cct6a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.84 CCT6A Ain Roesley Classified gene: CCT6A as Amber List (moderate evidence)
Genetic Epilepsy v1.84 CCT6A Ain Roesley Gene: cct6a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.83 CCT6A Ain Roesley Marked gene: CCT6A as ready
Genetic Epilepsy v1.83 CCT6A Ain Roesley Gene: cct6a has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.83 CCT6A Ain Roesley gene: CCT6A was added
gene: CCT6A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CCT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCT6A were set to 39480921
Phenotypes for gene: CCT6A were set to neurodevelopmental disorder MONDO:0700092, CCT6A-related
Penetrance for gene: CCT6A were set to Complete
Review for gene: CCT6A was set to AMBER
gene: CCT6A was marked as current diagnostic
Added comment: previously known as CCT6

5x individuals including 4x de novo
3x PTCS + 1x +5C>G + 1x missense

4/5 DD/ID
2/5 visual impairment
2/5 seizures
Sources: Literature
Genetic Epilepsy v1.82 TCP1 Ain Roesley Marked gene: TCP1 as ready
Genetic Epilepsy v1.82 TCP1 Ain Roesley Gene: tcp1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.82 TCP1 Ain Roesley Classified gene: TCP1 as Green List (high evidence)
Genetic Epilepsy v1.82 TCP1 Ain Roesley Gene: tcp1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.81 TCP1 Ain Roesley gene: TCP1 was added
gene: TCP1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TCP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TCP1 were set to 39480921
Phenotypes for gene: TCP1 were set to neurodevelopmental disorder MONDO:0700092, TCP1-related
Penetrance for gene: TCP1 were set to Complete
Review for gene: TCP1 was set to GREEN
gene: TCP1 was marked as current diagnostic
Added comment: previously known as CCT1

8x individuals including 5x de novo
6x PTCs + 2x missense

6/8 DD/ID
2/8 visual impairment
6/8 seizures
6/8 polymicrogyria + 1x Ventriculomegaly, white matter hyperintensities
Sources: Literature
Genetic Epilepsy v1.80 CCT3 Ain Roesley Marked gene: CCT3 as ready
Genetic Epilepsy v1.80 CCT3 Ain Roesley Gene: cct3 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.80 CCT3 Ain Roesley Classified gene: CCT3 as Green List (high evidence)
Genetic Epilepsy v1.80 CCT3 Ain Roesley Gene: cct3 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.79 CCT3 Ain Roesley gene: CCT3 was added
gene: CCT3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CCT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCT3 were set to 39480921
Phenotypes for gene: CCT3 were set to neurodevelopmental disorder MONDO:0700092, CCT3-related
Penetrance for gene: CCT3 were set to Complete
Review for gene: CCT3 was set to GREEN
gene: CCT3 was marked as current diagnostic
Added comment: 4x de novo - 3x PTCs and 1x missense

overlapping phenotypes:
4/4 ID/DD
3/4 visual impairment
2/4 seizures
4/4 Hypomyelination of white matter
Sources: Literature
Genetic Epilepsy v1.78 CLASP1 Ain Roesley Marked gene: CLASP1 as ready
Genetic Epilepsy v1.78 CLASP1 Ain Roesley Gene: clasp1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.78 CLASP1 Ain Roesley gene: CLASP1 was added
gene: CLASP1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CLASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLASP1 were set to 39040917
Phenotypes for gene: CLASP1 were set to neurodevelopmental disorder MONDO:0700092, CLASP1-related
Review for gene: CLASP1 was set to RED
gene: CLASP1 was marked as current diagnostic
Added comment: 3 siblings from a consanguineous family, homozygous for p.(Arg1481His)
at birth, all had low weight and microcephaly (< 3-4SD), profound dev delay, spasticity, seizures and lissencephaly

Arg1481His - 3 hets 0 Homs in v4
codon is highly conserved with a high REVEL score 0.83
Sources: Literature
Genetic Epilepsy v1.77 PPP2R2B Bryony Thompson Marked gene: PPP2R2B as ready
Genetic Epilepsy v1.77 PPP2R2B Bryony Thompson Gene: ppp2r2b has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.77 PPP2R2B Bryony Thompson Classified gene: PPP2R2B as Amber List (moderate evidence)
Genetic Epilepsy v1.77 PPP2R2B Bryony Thompson Gene: ppp2r2b has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.76 PPP2R2B Bryony Thompson gene: PPP2R2B was added
gene: PPP2R2B was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PPP2R2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP2R2B were set to 25356899; 39565297
Phenotypes for gene: PPP2R2B were set to Neurodevelopmental disorder MONDO:0700092, PPP2R2B-related
Review for gene: PPP2R2B was set to AMBER
Added comment: 5 cases with NDD and heterozygous missense (4/5 confirmed de novo): p.Thr246Lys (unknown inheritance), p.Asn310Lys (confirmed de novo), p.Glu37Lys (confirmed de novo, also had RNU4-2 path de novo Path variant), p.Ile427Thr (confirmed de novo, also had TAOK1 inherited Path variant), p.Arg149Pro (confirmed de novo). 5/5 with intellectual disability and developmental delay, 4/5 with seizures, 2/5 with hearing loss/auditory neuropathy. Study includes in vitro functional assays supporting a possible loss of function mechanism of disease. The 2 missense with additional diagnoses (E37K & I427T) demonstrated a partial reduction in PP2A holoenzyme assembly. Only 3 cases with a possible diagnosis that could be attributed to the PPP2R2B only, and only 2 were confirmed de novo.
Sources: Literature
Genetic Epilepsy v1.75 WDR47 Bryony Thompson Marked gene: WDR47 as ready
Genetic Epilepsy v1.75 WDR47 Bryony Thompson Gene: wdr47 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.75 WDR47 Bryony Thompson Classified gene: WDR47 as Green List (high evidence)
Genetic Epilepsy v1.75 WDR47 Bryony Thompson Gene: wdr47 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.74 WDR47 Bryony Thompson gene: WDR47 was added
gene: WDR47 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: WDR47 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR47 were set to 39609633
Phenotypes for gene: WDR47 were set to Complex neurodevelopmental disorder MONDO:0100038, WDR47-related
Review for gene: WDR47 was set to GREEN
Added comment: 7 cases from 5 unrelated families with biallelic variants and a complex neurodevelopmental syndrome. The most frequent phenotypes were corpus callosum dysgenesis (7/7), microcephaly (7/7), mild to severe intellectual disability (7/7), epilepsy (7/7). Additionally, mouse models recapitulate the human phenotype. Loss of function is the mechanism of disease. Heterozygous parents had no phenotype.
Sources: Literature
Genetic Epilepsy v1.73 DHRSX Zornitza Stark Phenotypes for gene: DHRSX were changed from congenital disorder of glycosylation, MONDO:0015286, DHRSX-related to Congenital disorder of glycosylation, type 1DD, MIM# 301133
Genetic Epilepsy v1.72 DHRSX Zornitza Stark edited their review of gene: DHRSX: Changed phenotypes: Congenital disorder of glycosylation, type 1DD, MIM# 301133
Genetic Epilepsy v1.72 DALRD3 Zornitza Stark Publications for gene: DALRD3 were set to 32427860
Genetic Epilepsy v1.71 MARK2 Zornitza Stark Marked gene: MARK2 as ready
Genetic Epilepsy v1.71 MARK2 Zornitza Stark Gene: mark2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.71 MARK2 Zornitza Stark Classified gene: MARK2 as Green List (high evidence)
Genetic Epilepsy v1.71 MARK2 Zornitza Stark Gene: mark2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.69 MARK2 Chirag Patel gene: MARK2 was added
gene: MARK2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MARK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MARK2 were set to PMID: 39419027, 39436150
Phenotypes for gene: MARK2 were set to Neurodevelopmental disorder MONDO:0700092
Review for gene: MARK2 was set to GREEN
Added comment: 31 individuals with autism spectrum disorder (30/31), intellectual disability/developmental delay (100%), motor delay (62%), speech-language problems (100%), seizure/epilepsy (46%), behaviour disorders (ADHD, aggression, anxiety)(74%), and distinctive facial features (narrow face, abnormal or broad forehead, downslanting palpebral fissures, and large or dysplastic ears).

WES/WGS identified 25 LOF and 6 missense variants in MARK2 gene (Microtubule affinity-regulating kinase 2) which contributes to establishing neuronal polarity and developing dendritic spines. LOF variants were de novo (16/25), inherited (4/25), or unk (5/25). All 6 missense variants were de novo and clustered in the kinase or KA1 domains.

The mRNA and protein expression of MARK2 in PBMCs were significantly lower in affected individuals with LOF variants than in the control group. In vitro expression assay of missense variants supported the effect of MARK2 loss. Proband-derived and CRISPR-engineered isogenic induced pluripotent stem cells (iPSCs) showed MARK2 loss leads to early neuronal developmental and functional deficits, including anomalous polarity and disorganization in neural rosettes, as well as imbalanced proliferation and differentiation in neural progenitor cells (NPCs). Mark2+/- mice showed abnormal cortical formation and partition and ASD-like behaviour. Through the use of RNA sequencing (RNA-seq) and lithium treatment, they linked MARK2 loss to downregulation of the WNT/β-catenin signaling pathway and identified lithium as a potential drug for treating MARK2-associated ASD.
Sources: Literature
Genetic Epilepsy v1.69 MARK2 Chirag Patel gene: MARK2 was added
gene: MARK2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MARK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MARK2 were set to PMID: 39419027, 39436150
Phenotypes for gene: MARK2 were set to Neurodevelopmental disorder MONDO:0700092
Review for gene: MARK2 was set to GREEN
Added comment: 31 individuals with autism spectrum disorder (30/31), intellectual disability/developmental delay (100%), motor delay (62%), speech-language problems (100%), seizure/epilepsy (46%), behaviour disorders (ADHD, aggression, anxiety)(74%), and distinctive facial features (narrow face, abnormal or broad forehead, downslanting palpebral fissures, and large or dysplastic ears).

WES/WGS identified 25 LOF and 6 missense variants in MARK2 gene (Microtubule affinity-regulating kinase 2) which contributes to establishing neuronal polarity and developing dendritic spines. LOF variants were de novo (16/25), inherited (4/25), or unk (5/25). All 6 missense variants were de novo and clustered in the kinase or KA1 domains.

The mRNA and protein expression of MARK2 in PBMCs were significantly lower in affected individuals with LOF variants than in the control group. In vitro expression assay of missense variants supported the effect of MARK2 loss. Proband-derived and CRISPR-engineered isogenic induced pluripotent stem cells (iPSCs) showed MARK2 loss leads to early neuronal developmental and functional deficits, including anomalous polarity and disorganization in neural rosettes, as well as imbalanced proliferation and differentiation in neural progenitor cells (NPCs). Mark2+/- mice showed abnormal cortical formation and partition and ASD-like behaviour. Through the use of RNA sequencing (RNA-seq) and lithium treatment, they linked MARK2 loss to downregulation of the WNT/β-catenin signaling pathway and identified lithium as a potential drug for treating MARK2-associated ASD.
Sources: Literature
Genetic Epilepsy v1.68 DALRD3 Sangavi Sivagnanasundram reviewed gene: DALRD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 39482881; Phenotypes: developmental and epileptic encephalopathy, 86 MONDO:0030054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.68 AJAP1 Zornitza Stark Marked gene: AJAP1 as ready
Genetic Epilepsy v1.68 AJAP1 Zornitza Stark Gene: ajap1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.68 AJAP1 Zornitza Stark Classified gene: AJAP1 as Green List (high evidence)
Genetic Epilepsy v1.68 AJAP1 Zornitza Stark Gene: ajap1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.67 AJAP1 Zornitza Stark Classified gene: AJAP1 as Green List (high evidence)
Genetic Epilepsy v1.67 AJAP1 Zornitza Stark Gene: ajap1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.66 AJAP1 Zornitza Stark gene: AJAP1 was added
gene: AJAP1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: AJAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AJAP1 were set to 38985877
Phenotypes for gene: AJAP1 were set to neurodevelopmental disorder, MONDO:0700092, AJAP1-related
Review for gene: AJAP1 was set to GREEN
Added comment: PMID:38985877 reported five unrelated individuals with monoallelic variants or a deletion in AJAP1 gene and they presented with epilepsy, neurodevelopmental problems, or intellectual disability. There is also supporting functional evidence available.
Sources: Literature
Genetic Epilepsy v1.65 DHRSX Zornitza Stark Marked gene: DHRSX as ready
Genetic Epilepsy v1.65 DHRSX Zornitza Stark Gene: dhrsx has been classified as Green List (High Evidence).
Genetic Epilepsy v1.65 DHRSX Zornitza Stark Classified gene: DHRSX as Green List (high evidence)
Genetic Epilepsy v1.65 DHRSX Zornitza Stark Gene: dhrsx has been classified as Green List (High Evidence).
Genetic Epilepsy v1.64 DHRSX Zornitza Stark gene: DHRSX was added
gene: DHRSX was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: DHRSX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHRSX were set to 38821050
Phenotypes for gene: DHRSX were set to congenital disorder of glycosylation, MONDO:0015286, DHRSX-related
Review for gene: DHRSX was set to GREEN
Added comment: PMID:38821050 reported the identification of biallelic missense variants in DHRSX gene in four patients from three unrelated families with a congenital disorder of glycosylation. They displayed distinct facial features, severe neurological involvement including hypotonia, scoliosis, contractures, profound intellectual disability, epilepsy, and sensorineural hearing loss. These patients also experienced severe failure to thrive (requiring tube feeding); variable respiratory insufficiency; and involvement of the eyes, the gastrointestinal system, and other organs.

Gene in PAR.
Sources: Literature
Genetic Epilepsy v1.63 FLVCR1 Bryony Thompson Marked gene: FLVCR1 as ready
Genetic Epilepsy v1.63 FLVCR1 Bryony Thompson Gene: flvcr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.63 FLVCR1 Bryony Thompson Classified gene: FLVCR1 as Green List (high evidence)
Genetic Epilepsy v1.63 FLVCR1 Bryony Thompson Gene: flvcr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.62 FLVCR1 Bryony Thompson gene: FLVCR1 was added
gene: FLVCR1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLVCR1 were set to 39306721
Phenotypes for gene: FLVCR1 were set to neurodevelopmental disorder MONDO:0700092, FLVCR1-related
Review for gene: FLVCR1 was set to GREEN
gene: FLVCR1 was marked as current diagnostic
Added comment: A study with 30 patients from 23 unrelated families with biallelic ultra-rare missense and predicted loss-of-function variants in FLVCR1 with a novel FLVCR1-related phenotype characterised by severe developmental disorders with profound developmental delay, microcephaly, brain malformations, epilepsy, spasticity, and premature death. Optic disk atrophy, limb and digital malformations, and macrocytic anaemia can be present.
Sources: Literature
Genetic Epilepsy v1.61 SECISBP2 Zornitza Stark Marked gene: SECISBP2 as ready
Genetic Epilepsy v1.61 SECISBP2 Zornitza Stark Gene: secisbp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.61 SECISBP2 Zornitza Stark Classified gene: SECISBP2 as Green List (high evidence)
Genetic Epilepsy v1.61 SECISBP2 Zornitza Stark Gene: secisbp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.60 SECISBP2 Zornitza Stark gene: SECISBP2 was added
gene: SECISBP2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SECISBP2 were set to 39315526
Phenotypes for gene: SECISBP2 were set to Thyroid hormone metabolism, abnormal, 1, MIM# 609698
Review for gene: SECISBP2 was set to GREEN
Added comment: Four individuals reported with bi-allelic variants and ID/seizures/autism phenotype.
Sources: Literature
Genetic Epilepsy v1.59 GMPPA Ain Roesley Phenotypes for gene: GMPPA were changed from Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510) to Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510)
Genetic Epilepsy v1.59 GMPPA Ain Roesley Phenotypes for gene: GMPPA were changed from Alacrima, achalasia, and mental retardation syndrome (MIM# 615510) to Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510)
Genetic Epilepsy v1.58 EPB41L3 Bryony Thompson Marked gene: EPB41L3 as ready
Genetic Epilepsy v1.58 EPB41L3 Bryony Thompson Gene: epb41l3 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.58 EPB41L3 Bryony Thompson Classified gene: EPB41L3 as Green List (high evidence)
Genetic Epilepsy v1.58 EPB41L3 Bryony Thompson Gene: epb41l3 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.57 EPB41L3 Bryony Thompson gene: EPB41L3 was added
gene: EPB41L3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: EPB41L3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPB41L3 were set to 39292993
Phenotypes for gene: EPB41L3 were set to neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities MONDO:0030063
Review for gene: EPB41L3 was set to GREEN
Added comment: 6 cases from 5 unrelated consanguineous families (2nd & 3rd degree) with homozygous LoF variants and a neurodevelopmental condition, including ID and seizures. Epb41l3 shRNA-mediated downregulation in mouse oligodendroglia demonstrated impaired oligodendrocyte function.
Sources: Literature
Genetic Epilepsy v1.56 RNU2-2P Zornitza Stark Marked gene: RNU2-2P as ready
Genetic Epilepsy v1.56 RNU2-2P Zornitza Stark Gene: rnu2-2p has been classified as Green List (High Evidence).
Genetic Epilepsy v1.56 RNU2-2P Zornitza Stark Classified gene: RNU2-2P as Green List (high evidence)
Genetic Epilepsy v1.56 RNU2-2P Zornitza Stark Gene: rnu2-2p has been classified as Green List (High Evidence).
Genetic Epilepsy v1.55 RNU2-2P Zornitza Stark Classified gene: RNU2-2P as Green List (high evidence)
Genetic Epilepsy v1.55 RNU2-2P Zornitza Stark Gene: rnu2-2p has been classified as Green List (High Evidence).
Genetic Epilepsy v1.54 RNU2-2P Zornitza Stark gene: RNU2-2P was added
gene: RNU2-2P was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: RNU2-2P was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNU2-2P were set to https://www.medrxiv.org/content/10.1101/2024.09.03.24312863v1
Phenotypes for gene: RNU2-2P were set to Neurodevelopmental disorder, MONDO:0700092, RNU2-2P-related
Review for gene: RNU2-2P was set to GREEN
Added comment: 15 individuals reported with de novo, recurrent variants in this gene at nucleotide positions 4 and 35. The disorder is characterized by intellectual disability, neurodevelopmental delay, autistic behavior, microcephaly, hypotonia, epilepsy and hyperventilation. All cases display a severe and complex seizure phenotype.
Sources: Literature
Genetic Epilepsy v1.53 PNPLA8 Zornitza Stark Marked gene: PNPLA8 as ready
Genetic Epilepsy v1.53 PNPLA8 Zornitza Stark Gene: pnpla8 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.53 PNPLA8 Zornitza Stark Phenotypes for gene: PNPLA8 were changed from Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related to Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related
Genetic Epilepsy v1.52 PNPLA8 Zornitza Stark Phenotypes for gene: PNPLA8 were changed from PNPLA8-related neurological diseases to Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related
Genetic Epilepsy v1.51 KMT2C Zornitza Stark Marked gene: KMT2C as ready
Genetic Epilepsy v1.51 KMT2C Zornitza Stark Gene: kmt2c has been classified as Green List (High Evidence).
Genetic Epilepsy v1.51 KMT2C Zornitza Stark Classified gene: KMT2C as Green List (high evidence)
Genetic Epilepsy v1.51 KMT2C Zornitza Stark Gene: kmt2c has been classified as Green List (High Evidence).
Genetic Epilepsy v1.50 KMT2C Zornitza Stark Classified gene: KMT2C as Green List (high evidence)
Genetic Epilepsy v1.50 KMT2C Zornitza Stark Gene: kmt2c has been classified as Green List (High Evidence).
Genetic Epilepsy v1.49 KMT2C Zornitza Stark gene: KMT2C was added
gene: KMT2C was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KMT2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2C were set to 39013459
Phenotypes for gene: KMT2C were set to Kleefstra syndrome 2, MIM# 617768
Review for gene: KMT2C was set to GREEN
Added comment: Large cohort of 98 individuals reported. Seizures are part of the phenotype.
Sources: Literature
Genetic Epilepsy v1.48 PNPLA8 Chirag Patel Classified gene: PNPLA8 as Green List (high evidence)
Genetic Epilepsy v1.48 PNPLA8 Chirag Patel Gene: pnpla8 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.47 PNPLA8 Chirag Patel gene: PNPLA8 was added
gene: PNPLA8 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PNPLA8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA8 were set to PMID: 39082157
Phenotypes for gene: PNPLA8 were set to PNPLA8-related neurological diseases
Review for gene: PNPLA8 was set to GREEN
gene: PNPLA8 was marked as current diagnostic
Added comment: Cohort analysis of clinical features of new and previously reported individuals with biallelic PNPLA8 variants (25 affected individuals across 20 families). They showed that PNPLA8-related neurological diseases manifest as a continuum ranging from variable developmental and/or degenerative epileptic-dyskinetic encephalopathy to childhood-onset neurodegeneration. Complete loss of PNPLA8 was associated with the more profound end of the spectrum. 19/25 individuals had seizures (onset 1 day to 31 years).

Using cerebral organoids generated from human induced pluripotent stem cells, they found that loss of PNPLA8 led to developmental defects by reducing the number of basal radial glial cells and upper-layer neurons. Neural progenitor cells lacking PNPLA8 showed a reduced amount of lysophosphatidic acid, lysophosphatidylethanolamine and phosphatidic acid. They show that PNPLA8 is crucial to meet phospholipid synthetic needs and to produce abundant basal radial glial cells in human brain development.
Sources: Literature
Genetic Epilepsy v1.46 Zornitza Stark List of related panels changed from Seizure; HP:0001250; Epileptic encephalopathy; HP:0200134 to Seizure; HP:0001250; Epileptic encephalopathy; HP:0200134; EEG abnormality; HP:0002353
Genetic Epilepsy v1.45 YIF1B Zornitza Stark Classified gene: YIF1B as Green List (high evidence)
Genetic Epilepsy v1.45 YIF1B Zornitza Stark Gene: yif1b has been classified as Green List (High Evidence).
Genetic Epilepsy v1.44 YIF1B Zornitza Stark edited their review of gene: YIF1B: Changed rating: GREEN
Genetic Epilepsy v1.44 YIF1B Zornitza Stark edited their review of gene: YIF1B: Added comment: Multiple additional individuals now reported, including others with seizures. DEFINITIVE by ClinGen.; Changed publications: 36948290, 33103737
Genetic Epilepsy v1.44 CSMD1 Zornitza Stark Marked gene: CSMD1 as ready
Genetic Epilepsy v1.44 CSMD1 Zornitza Stark Gene: csmd1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.44 CSMD1 Zornitza Stark Classified gene: CSMD1 as Green List (high evidence)
Genetic Epilepsy v1.44 CSMD1 Zornitza Stark Gene: csmd1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.43 CSMD1 Krithika Murali gene: CSMD1 was added
gene: CSMD1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CSMD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSMD1 were set to PMID: 38816421
Phenotypes for gene: CSMD1 were set to complex neurodevelopmental disorder MONDO:0100038
Review for gene: CSMD1 was set to GREEN
Added comment: PMID 38816421 Werren et al 2024 report 8 individuals from 6 families with biallelic missense CSMD1 variants identified through exome sequencing and subsequent gene-sharing efforts. Shared phenotypic features included: GDD, ID, microcephaly and polymicrogyria. Other features included dysmorphism, IUGR, hypotonia, arthrogryposis, seizures, opthalmological anomalies and other brain white matter anomalies Heterozygous parents were unaffected.

Loss of function is the postulated mechanism based on experimental data involving early-stage forebrain organoids differentiated from CSMD1 knockout human embryonic stem cells. ClinGen haploinsufficiency score of 1, however, this curation was last reviewed in 2018. This gene is within the scope of review for the ClinGen Autism and ID GCEP.
Sources: Literature
Genetic Epilepsy v1.42 Zornitza Stark List of related panels changed from Seizure; HP:0001250 to Seizure; HP:0001250; Epileptic encephalopathy; HP:0200134
Genetic Epilepsy v1.41 GLS Zornitza Stark Phenotypes for gene: GLS were changed from Epileptic encephalopathy, early infantile, 71, MIM# 618328; Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685 to Epileptic encephalopathy, early infantile, 71, MIM# 618328; Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685
Genetic Epilepsy v1.40 GLS Zornitza Stark Phenotypes for gene: GLS were changed from Epileptic encephalopathy, early infantile, 71, MIM# 618328 to Epileptic encephalopathy, early infantile, 71, MIM# 618328; Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685
Genetic Epilepsy v1.39 GLS Zornitza Stark Publications for gene: GLS were set to 30575854
Genetic Epilepsy v1.38 GLS Zornitza Stark Mode of inheritance for gene: GLS was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v1.37 GLS Zornitza Stark Classified gene: GLS as Green List (high evidence)
Genetic Epilepsy v1.37 GLS Zornitza Stark Gene: gls has been classified as Green List (High Evidence).
Genetic Epilepsy v1.36 GLS Zornitza Stark edited their review of gene: GLS: Added comment: PMID 38622440: additional individual reported with bi-allelic variants.

Note GoF variants also postulated to cause a neurodevelopmental phenotype, including seizures, though evidence is more limited, PMID 37151363. Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685; Changed rating: GREEN; Changed publications: 30575854, 38622440, 37151363; Changed phenotypes: Epileptic encephalopathy, early infantile, 71, MIM# 618328, Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v1.36 HDAC3 Zornitza Stark Marked gene: HDAC3 as ready
Genetic Epilepsy v1.36 HDAC3 Zornitza Stark Gene: hdac3 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.36 HDAC3 Zornitza Stark Classified gene: HDAC3 as Green List (high evidence)
Genetic Epilepsy v1.36 HDAC3 Zornitza Stark Gene: hdac3 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.35 HDAC3 Zornitza Stark Classified gene: HDAC3 as Green List (high evidence)
Genetic Epilepsy v1.35 HDAC3 Zornitza Stark Gene: hdac3 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.34 HDAC3 Zornitza Stark gene: HDAC3 was added
gene: HDAC3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: HDAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HDAC3 were set to 39047730
Phenotypes for gene: HDAC3 were set to Neurodevelopmental disorder, MONDO:0700092, HDAC3-related
Review for gene: HDAC3 was set to GREEN
Added comment: Six individuals with de novo missense variants in this gene and variable NDD phenotypes, including ID, seizures. Supportive functional data.
Sources: Literature
Genetic Epilepsy v1.33 SPATA5 Zornitza Stark Marked gene: SPATA5 as ready
Genetic Epilepsy v1.33 SPATA5 Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is AFG2A
Genetic Epilepsy v1.33 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.33 SPATA5 Zornitza Stark Tag new gene name tag was added to gene: SPATA5.
Genetic Epilepsy v1.33 USP25 Zornitza Stark Classified gene: USP25 as Green List (high evidence)
Genetic Epilepsy v1.33 USP25 Zornitza Stark Gene: usp25 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.32 USP25 Zornitza Stark gene: USP25 was added
gene: USP25 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: USP25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: USP25 were set to 38875478
Phenotypes for gene: USP25 were set to Epilepsy, idiopathic generalized, MONDO:0005579, USP25-related
Review for gene: USP25 was set to GREEN
Added comment: PMID: 38875478 5 heterozygous variants were identified in 8 individuals from 5 unrelated families all with clinical phenotypes associated with generalised epilepsy. Knock-out mouse model showed increased seizure susceptibility compared to the WT. Both loss of function and gain of function variants can be a mechanism of disease in individuals with USP25-related epilepsy.
Sources: Literature
Genetic Epilepsy v1.31 VPS50 Ain Roesley Publications for gene: VPS50 were set to 34037727; 38876772
Genetic Epilepsy v1.30 VPS50 Ain Roesley Publications for gene: VPS50 were set to 34037727; 38876772
Genetic Epilepsy v1.30 VPS50 Ain Roesley Classified gene: VPS50 as Green List (high evidence)
Genetic Epilepsy v1.30 VPS50 Ain Roesley Gene: vps50 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.30 VPS50 Ain Roesley Publications for gene: VPS50 were set to 34037727
Genetic Epilepsy v1.30 VPS50 Ain Roesley Classified gene: VPS50 as Green List (high evidence)
Genetic Epilepsy v1.30 VPS50 Ain Roesley Gene: vps50 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.29 VPS50 Ain Roesley commented on gene: VPS50: 1x proband Chet for a nonsense p.(Lys5*) and a complex structural variant of a 4.3Mb inversion, flanked by 170kb and 428kb deletions, respectively. The 428kb deletion spans the entire VPS50 gene.

Sanger confirmed the Lys5* to be 'homozygous' in the proband.

Phenotypes include:
severe ID, muscular hypotonia, sensorineural hearing impairment, microcephaly, nystagmus, seizures, hypoplastic corpus callous, neonatal low GGT cholesatsis, hepatomegaly, failure to thrive
Genetic Epilepsy v1.29 VPS50 Ain Roesley reviewed gene: VPS50: Rating: GREEN; Mode of pathogenicity: None; Publications: 38876772; Phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis MIM#619685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Genetic Epilepsy v1.29 PAK2 Ain Roesley Publications for gene: PAK2 were set to 33693784
Genetic Epilepsy v1.29 PAK2 Ain Roesley Classified gene: PAK2 as Amber List (moderate evidence)
Genetic Epilepsy v1.29 PAK2 Ain Roesley Gene: pak2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.28 PAK2 Ain Roesley reviewed gene: PAK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 38894571, 38712026; Phenotypes: Knobloch syndrome 2 MIM#618458; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Genetic Epilepsy v1.28 RBFOX3 Zornitza Stark Marked gene: RBFOX3 as ready
Genetic Epilepsy v1.28 RBFOX3 Zornitza Stark Gene: rbfox3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.28 RBFOX3 Zornitza Stark Classified gene: RBFOX3 as Amber List (moderate evidence)
Genetic Epilepsy v1.28 RBFOX3 Zornitza Stark Gene: rbfox3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.27 RBFOX3 Zornitza Stark gene: RBFOX3 was added
gene: RBFOX3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: RBFOX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RBFOX3 were set to 35951651; 36117209; 24039908
Phenotypes for gene: RBFOX3 were set to Neurodevelopmental disorder (MONDO:0700092), RBFOX3-related
Review for gene: RBFOX3 was set to AMBER
Added comment: Reported as a candidate gene for epilepsy, particularly Rolandic epilepsy. Two supportive animal models.
Sources: Literature
Genetic Epilepsy v1.26 ANO4 Zornitza Stark Marked gene: ANO4 as ready
Genetic Epilepsy v1.26 ANO4 Zornitza Stark Gene: ano4 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.26 ANO4 Zornitza Stark Classified gene: ANO4 as Green List (high evidence)
Genetic Epilepsy v1.26 ANO4 Zornitza Stark Gene: ano4 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.11 ANO4 Ain Roesley gene: ANO4 was added
gene: ANO4 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ANO4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANO4 were set to 38744284
Phenotypes for gene: ANO4 were set to neurodevelopmental disorder MONDO:0700092, ANO4-related
Review for gene: ANO4 was set to GREEN
gene: ANO4 was marked as current diagnostic
Added comment: aka TMEM16D

5x de novo + 2x inherited missense (73% penetrance + asymptomatic)

the ones with de novo variants:
all had ID, hypotonia
4x skeletal features (scoliosis, funnel chest, pet plants, hyper extensible joints)

all had epilepsy
all had abnormal MRI
Sources: Literature
Genetic Epilepsy v1.11 ANO4 Ain Roesley gene: ANO4 was added
gene: ANO4 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ANO4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANO4 were set to 38744284
Phenotypes for gene: ANO4 were set to neurodevelopmental disorder MONDO:0700092, ANO4-related
Review for gene: ANO4 was set to GREEN
gene: ANO4 was marked as current diagnostic
Added comment: aka TMEM16D

5x de novo + 2x inherited missense (73% penetrance + asymptomatic)

the ones with de novo variants:
all had ID, hypotonia
4x skeletal features (scoliosis, funnel chest, pet plants, hyper extensible joints)

all had epilepsy
all had abnormal MRI
Sources: Literature
Genetic Epilepsy v1.11 ANO4 Ain Roesley gene: ANO4 was added
gene: ANO4 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ANO4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANO4 were set to 38744284
Phenotypes for gene: ANO4 were set to neurodevelopmental disorder MONDO:0700092, ANO4-related
Review for gene: ANO4 was set to GREEN
gene: ANO4 was marked as current diagnostic
Added comment: aka TMEM16D

5x de novo + 2x inherited missense (73% penetrance + asymptomatic)

the ones with de novo variants:
all had ID, hypotonia
4x skeletal features (scoliosis, funnel chest, pet plants, hyper extensible joints)

all had epilepsy
all had abnormal MRI
Sources: Literature
Genetic Epilepsy v1.10 KCND1 Ain Roesley Marked gene: KCND1 as ready
Genetic Epilepsy v1.10 KCND1 Ain Roesley Gene: kcnd1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.10 KCND1 Ain Roesley Classified gene: KCND1 as Green List (high evidence)
Genetic Epilepsy v1.10 KCND1 Ain Roesley Gene: kcnd1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.9 KCND1 Ain Roesley gene: KCND1 was added
gene: KCND1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KCND1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: KCND1 were set to 38772379
Phenotypes for gene: KCND1 were set to neurodevelopmental disorder MONDO:0700092, KCND1-related
Review for gene: KCND1 was set to GREEN
gene: KCND1 was marked as current diagnostic
Added comment: 18 males from 17 families
2x de novo missense + 3x maternal NMDs + 12x maternal missense
Some functional studies were done

14x ID
4x delayed motor dev
7x muscular hypotonia
6x epilepsy
Sources: Literature
Genetic Epilepsy v1.8 PPFIA3 Zornitza Stark Publications for gene: PPFIA3 were set to 38723631
Genetic Epilepsy v1.7 PPFIA3 Zornitza Stark Publications for gene: PPFIA3 were set to 37034625
Genetic Epilepsy v1.6 PPFIA3 Zornitza Stark edited their review of gene: PPFIA3: Changed publications: 38723631
Genetic Epilepsy v1.6 GABRA4 Zornitza Stark Phenotypes for gene: GABRA4 were changed from Neurodevelopmental disorder MONDO:0700092, GABRA4-related to Neurodevelopmental disorder MONDO:0700092, GABRA4-related
Genetic Epilepsy v1.5 GABRA4 Zornitza Stark Phenotypes for gene: GABRA4 were changed from Developmental and epileptic encephalopathy MONDO:0100062, GABRA4-related to Neurodevelopmental disorder MONDO:0700092, GABRA4-related
Genetic Epilepsy v1.4 GABRA4 Zornitza Stark Classified gene: GABRA4 as Green List (high evidence)
Genetic Epilepsy v1.4 GABRA4 Zornitza Stark Gene: gabra4 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.3 GABRA4 Zornitza Stark Classified gene: GABRA4 as Green List (high evidence)
Genetic Epilepsy v1.3 GABRA4 Zornitza Stark Gene: gabra4 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.2 GABRA4 Zornitza Stark edited their review of gene: GABRA4: Added comment: Three more novel de novo missense variants in GABRA4 (NM_000809.4): c.797 C > T, p.(Pro266Leu), c.899 C > A, p.(Thr300Asn), and c.634 G > A, p.(Val212Ile) reported.

The p.(Thr300Asn) variant impacts the same codon as the previously reported variant p.(Thr300Ile) and likely arose post-zygotically as evidenced by sequencing oral mucosal cells.

Overlapping phenotypes among affected individuals included developmental delay (4/4), epileptiform EEG abnormalities (3/4), attention deficits (3/4), seizures (2/4), autistic features (2/4) and structural brain abnormalities (2/4).; Changed rating: GREEN; Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, GABRA4-related
Genetic Epilepsy v1.2 RAPGEF2 Zornitza Stark Marked gene: RAPGEF2 as ready
Genetic Epilepsy v1.2 RAPGEF2 Zornitza Stark Gene: rapgef2 has been removed from the panel.
Genetic Epilepsy v1.0 Zornitza Stark promoted panel to version 1.0
Genetic Epilepsy v0.2805 LMNB2 Zornitza Stark Marked gene: LMNB2 as ready
Genetic Epilepsy v0.2805 LMNB2 Zornitza Stark Gene: lmnb2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2805 LMNB2 Zornitza Stark Classified gene: LMNB2 as Amber List (moderate evidence)
Genetic Epilepsy v0.2805 LMNB2 Zornitza Stark Gene: lmnb2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2804 GABRA6 Zornitza Stark Marked gene: GABRA6 as ready
Genetic Epilepsy v0.2804 GABRA6 Zornitza Stark Gene: gabra6 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2804 FAME1 Zornitza Stark Marked STR: FAME1 as ready
Genetic Epilepsy v0.2804 FAME1 Zornitza Stark Str: fame1 has been removed from the panel.
Genetic Epilepsy v0.2804 FAME1 Zornitza Stark Classified STR: FAME1 as No list
Genetic Epilepsy v0.2804 FAME1 Zornitza Stark Str: fame1 has been removed from the panel.
Genetic Epilepsy v0.2803 RAPGEF2 Zornitza Stark Marked gene: RAPGEF2 as ready
Genetic Epilepsy v0.2803 RAPGEF2 Zornitza Stark Gene: rapgef2 has been removed from the panel.
Genetic Epilepsy v0.2803 PEX10 Zornitza Stark Classified gene: PEX10 as Green List (high evidence)
Genetic Epilepsy v0.2803 PEX10 Zornitza Stark Gene: pex10 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2802 PEX10 Zornitza Stark reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 6A (Zellweger), MIM#614870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2802 KATNB1 Zornitza Stark Marked gene: KATNB1 as ready
Genetic Epilepsy v0.2802 KATNB1 Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2802 KATNB1 Zornitza Stark Classified gene: KATNB1 as Green List (high evidence)
Genetic Epilepsy v0.2802 KATNB1 Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2801 KATNB1 Zornitza Stark reviewed gene: KATNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly 6, with microcephaly MIM#616212; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2801 JARID2 Zornitza Stark Marked gene: JARID2 as ready
Genetic Epilepsy v0.2801 JARID2 Zornitza Stark Gene: jarid2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2801 JARID2 Zornitza Stark Marked gene: JARID2 as ready
Genetic Epilepsy v0.2801 JARID2 Zornitza Stark Gene: jarid2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2801 KIF4A Zornitza Stark Marked gene: KIF4A as ready
Genetic Epilepsy v0.2801 KIF4A Zornitza Stark Gene: kif4a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2801 UBE3A Zornitza Stark Marked gene: UBE3A as ready
Genetic Epilepsy v0.2801 UBE3A Zornitza Stark Gene: ube3a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2801 UBE3A Zornitza Stark Phenotypes for gene: UBE3A were changed from to Angelman syndrome, MIM#105830
Genetic Epilepsy v0.2800 UBE3A Zornitza Stark Publications for gene: UBE3A were set to
Genetic Epilepsy v0.2799 UBE3A Zornitza Stark Mode of inheritance for gene: UBE3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Genetic Epilepsy v0.2798 UBE2A Zornitza Stark Marked gene: UBE2A as ready
Genetic Epilepsy v0.2798 UBE2A Zornitza Stark Gene: ube2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2798 UBE2A Zornitza Stark Phenotypes for gene: UBE2A were changed from to Intellectual developmental disorder, X-linked syndromic, Nascimento type 300860
Genetic Epilepsy v0.2797 UBE2A Zornitza Stark Publications for gene: UBE2A were set to
Genetic Epilepsy v0.2796 UBE2A Zornitza Stark Mode of inheritance for gene: UBE2A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.2795 UBE2A Zornitza Stark changed review comment from: >3 families reported. Obligate carrier females unaffected.
ClinGen: Definitively associated with syndromic X-linked ID; to: >3 families reported. Obligate carrier females unaffected.
ClinGen: Definitively associated with syndromic X-linked ID. Seizures are part of the phenotype.
Genetic Epilepsy v0.2795 UBE2A Zornitza Stark edited their review of gene: UBE2A: Changed phenotypes: Intellectual developmental disorder, X-linked syndromic, Nascimento type 300860
Genetic Epilepsy v0.2795 TUBG1 Zornitza Stark Marked gene: TUBG1 as ready
Genetic Epilepsy v0.2795 TUBG1 Zornitza Stark Gene: tubg1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2795 TUBG1 Zornitza Stark Phenotypes for gene: TUBG1 were changed from to Cortical dysplasia, complex, with other brain malformations 4, MIM# 615412
Genetic Epilepsy v0.2794 TUBG1 Zornitza Stark Publications for gene: TUBG1 were set to
Genetic Epilepsy v0.2793 TUBG1 Zornitza Stark Mode of inheritance for gene: TUBG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2792 TUBB4A Zornitza Stark Marked gene: TUBB4A as ready
Genetic Epilepsy v0.2792 TUBB4A Zornitza Stark Gene: tubb4a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2792 TUBB4A Zornitza Stark Phenotypes for gene: TUBB4A were changed from to Leukodystrophy, hypomyelinating, 6, OMIM # 612438
Genetic Epilepsy v0.2791 TUBB4A Zornitza Stark Publications for gene: TUBB4A were set to
Genetic Epilepsy v0.2790 TUBB4A Zornitza Stark Mode of inheritance for gene: TUBB4A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2789 TUBB4A Zornitza Stark edited their review of gene: TUBB4A: Changed phenotypes: Leukodystrophy, hypomyelinating, 6, OMIM # 612438
Genetic Epilepsy v0.2789 TUBB4A Zornitza Stark changed review comment from: Dystonia-4, also known as whispering dysphonia, is an autosomal dominant neurologic disorder characterized by onset in the second to third decade of progressive laryngeal dysphonia followed by the involvement of other muscles, such as the neck or limbs. Some patients develop an ataxic gait. At least 8 unrelated families reported.

Leukodystrophy: multiple individuals reported, onset of symptoms is typically in infancy and early childhood.; to: Leukodystrophy: multiple individuals reported, onset of symptoms is typically in infancy and early childhood. Seizures are part of the phenotype.
Genetic Epilepsy v0.2789 TUBB2B Zornitza Stark Marked gene: TUBB2B as ready
Genetic Epilepsy v0.2789 TUBB2B Zornitza Stark Gene: tubb2b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2789 TUBB2B Zornitza Stark Phenotypes for gene: TUBB2B were changed from to Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031
Genetic Epilepsy v0.2788 TUBB2B Zornitza Stark Publications for gene: TUBB2B were set to
Genetic Epilepsy v0.2787 TUBB2B Zornitza Stark Mode of inheritance for gene: TUBB2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2786 TUBB Zornitza Stark Marked gene: TUBB as ready
Genetic Epilepsy v0.2786 TUBB Zornitza Stark Gene: tubb has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2786 TUBB Zornitza Stark Phenotypes for gene: TUBB were changed from to Cortical dysplasia, complex, with other brain malformations 6, MIM# 615771
Genetic Epilepsy v0.2785 TUBB Zornitza Stark Publications for gene: TUBB were set to
Genetic Epilepsy v0.2784 TUBB Zornitza Stark Mode of inheritance for gene: TUBB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2783 TUBB Zornitza Stark changed review comment from: Established gene-disease association.; to: Established gene-disease association. Seizures are part of the phenotype.
Genetic Epilepsy v0.2783 TUBA1A Zornitza Stark Marked gene: TUBA1A as ready
Genetic Epilepsy v0.2783 TUBA1A Zornitza Stark Gene: tuba1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2783 TUBA1A Zornitza Stark Phenotypes for gene: TUBA1A were changed from to Lissencephaly 3, MIM# 611603
Genetic Epilepsy v0.2782 TUBA1A Zornitza Stark Mode of inheritance for gene: TUBA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2781 TSEN54 Zornitza Stark Marked gene: TSEN54 as ready
Genetic Epilepsy v0.2781 TSEN54 Zornitza Stark Gene: tsen54 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2781 TSEN54 Zornitza Stark Phenotypes for gene: TSEN54 were changed from to Pontocerebellar hypoplasia type 2A, MIM# 277470
Genetic Epilepsy v0.2780 TSEN54 Zornitza Stark Mode of inheritance for gene: TSEN54 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2779 TSEN54 Zornitza Stark changed review comment from: Gene-disease association between bi-allelic variants and PCH is well established, limited evidence for mono-allelic variants causing ataxia as per Bryony's review.; to: Gene-disease association between bi-allelic variants and PCH is well established, limited evidence for mono-allelic variants causing ataxia as per Bryony's review. Seizures are part of the PCH phenotype.
Genetic Epilepsy v0.2779 TSC2 Zornitza Stark Marked gene: TSC2 as ready
Genetic Epilepsy v0.2779 TSC2 Zornitza Stark Gene: tsc2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2779 TSC2 Zornitza Stark Phenotypes for gene: TSC2 were changed from to Tuberous sclerosis 2, MIM# 613254
Genetic Epilepsy v0.2778 TSC2 Zornitza Stark Mode of inheritance for gene: TSC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2777 TSC2 Zornitza Stark reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis 2, MIM# 613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2777 TSC1 Zornitza Stark Marked gene: TSC1 as ready
Genetic Epilepsy v0.2777 TSC1 Zornitza Stark Gene: tsc1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2777 TSC1 Zornitza Stark Phenotypes for gene: TSC1 were changed from to Tuberous sclerosis 1, MIM# 191100
Genetic Epilepsy v0.2776 TSC1 Zornitza Stark Mode of inheritance for gene: TSC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2775 TSC1 Zornitza Stark reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis 1, MIM# 191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2775 TPP1 Zornitza Stark Marked gene: TPP1 as ready
Genetic Epilepsy v0.2775 TPP1 Zornitza Stark Gene: tpp1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2775 TPP1 Zornitza Stark Phenotypes for gene: TPP1 were changed from to Ceroid lipofuscinosis, neuronal, 2, MIM# 204500; MONDO:0008769
Genetic Epilepsy v0.2774 TPP1 Zornitza Stark Publications for gene: TPP1 were set to
Genetic Epilepsy v0.2773 TPP1 Zornitza Stark Mode of inheritance for gene: TPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2772 TPP1 Zornitza Stark edited their review of gene: TPP1: Changed phenotypes: Ceroid lipofuscinosis, neuronal, 2, MIM# 204500, MONDO:0008769
Genetic Epilepsy v0.2772 TCF4 Zornitza Stark Marked gene: TCF4 as ready
Genetic Epilepsy v0.2772 TCF4 Zornitza Stark Gene: tcf4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2772 TCF4 Zornitza Stark Phenotypes for gene: TCF4 were changed from to Pitt-Hopkins syndrome, MIM# 610954
Genetic Epilepsy v0.2771 TCF4 Zornitza Stark Publications for gene: TCF4 were set to
Genetic Epilepsy v0.2770 TCF4 Zornitza Stark Mode of inheritance for gene: TCF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2769 TCF4 Zornitza Stark changed review comment from: The association with Pitt-Hopkins syndrome is well established.

Corneal dystrophy is associated with STR.; to: The association with Pitt-Hopkins syndrome is well established. Seizures are part of the phenotype.

Corneal dystrophy is associated with STR.
Genetic Epilepsy v0.2769 TBL1XR1 Zornitza Stark Marked gene: TBL1XR1 as ready
Genetic Epilepsy v0.2769 TBL1XR1 Zornitza Stark Gene: tbl1xr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2769 TBL1XR1 Zornitza Stark Phenotypes for gene: TBL1XR1 were changed from to Intellectual disability, autosomal dominant 41, MIM# 616944; Pierpont syndrome, MIM# 602342
Genetic Epilepsy v0.2768 TBL1XR1 Zornitza Stark Publications for gene: TBL1XR1 were set to
Genetic Epilepsy v0.2767 TBL1XR1 Zornitza Stark Mode of inheritance for gene: TBL1XR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2766 TBL1XR1 Zornitza Stark edited their review of gene: TBL1XR1: Changed phenotypes: Intellectual disability, autosomal dominant 41, MIM# 616944, Pierpont syndrome, MIM# 602342
Genetic Epilepsy v0.2766 TBC1D24 Zornitza Stark Marked gene: TBC1D24 as ready
Genetic Epilepsy v0.2766 TBC1D24 Zornitza Stark Gene: tbc1d24 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2766 TBC1D24 Zornitza Stark Phenotypes for gene: TBC1D24 were changed from to Developmental and epileptic encephalopathy 16 MIM#615338; DOORS syndrome MIM#220500; Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105; Myoclonic epilepsy, infantile, familial MIM#605021
Genetic Epilepsy v0.2765 TBC1D24 Zornitza Stark Mode of inheritance for gene: TBC1D24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2764 WASF1 Ain Roesley Phenotypes for gene: WASF1 were changed from Neurodevelopmental disorder with absent language and variable seizures , MIM#618707 to Neurodevelopmental disorder with absent language and variable seizures , MIM#618707
Genetic Epilepsy v0.2763 WASF1 Ain Roesley Publications for gene: WASF1 were set to 29961568; 34845217; 34478686; 34356165
Genetic Epilepsy v0.2763 WASF1 Ain Roesley Marked gene: WASF1 as ready
Genetic Epilepsy v0.2763 WASF1 Ain Roesley Gene: wasf1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2763 WASF1 Ain Roesley Phenotypes for gene: WASF1 were changed from Neurodevelopmental disorder with absent language and variable seizures , MIM#618707 to Neurodevelopmental disorder with absent language and variable seizures , MIM#618707
Genetic Epilepsy v0.2763 WASF1 Ain Roesley Phenotypes for gene: WASF1 were changed from to Neurodevelopmental disorder with absent language and variable seizures , MIM#618707
Genetic Epilepsy v0.2763 WASF1 Ain Roesley Publications for gene: WASF1 were set to
Genetic Epilepsy v0.2762 WASF1 Ain Roesley Mode of inheritance for gene: WASF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2762 WASF1 Ain Roesley Mode of inheritance for gene: WASF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2762 WASF1 Ain Roesley Mode of inheritance for gene: WASF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2761 WDR45 Ain Roesley Phenotypes for gene: WDR45 were changed from Neurodegeneration with brain iron accumulation 5, MIM# 300894; Rett syndrome; Rett-like phenotypes to Neurodegeneration with brain iron accumulation 5, MIM# 300894; Rett syndrome; Rett-like phenotypes
Genetic Epilepsy v0.2761 WDR45 Ain Roesley Mode of inheritance for gene: WDR45 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.2761 WDR45 Ain Roesley Publications for gene: WDR45 were set to 23176820; 30842224
Genetic Epilepsy v0.2760 WDR45 Ain Roesley Marked gene: WDR45 as ready
Genetic Epilepsy v0.2760 WDR45 Ain Roesley Gene: wdr45 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2760 WDR45 Ain Roesley Phenotypes for gene: WDR45 were changed from to Neurodegeneration with brain iron accumulation 5, MIM# 300894; Rett syndrome; Rett-like phenotypes
Genetic Epilepsy v0.2760 WDR45 Ain Roesley Publications for gene: WDR45 were set to
Genetic Epilepsy v0.2760 WDR45 Ain Roesley Mode of inheritance for gene: WDR45 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.2759 WDR73 Ain Roesley Phenotypes for gene: WDR73 were changed from Galloway-Mowat syndrome 1 MIM#251300 to Galloway-Mowat syndrome 1 MIM#251300
Genetic Epilepsy v0.2759 SYNJ1 Zornitza Stark Phenotypes for gene: SYNJ1 were changed from Developmental and epileptic encephalopathy 53, MIM# 617389 to Developmental and epileptic encephalopathy 53, MIM# 617389
Genetic Epilepsy v0.2759 SYNJ1 Zornitza Stark Phenotypes for gene: SYNJ1 were changed from Developmental and epileptic encephalopathy 53, MIM# 617389 to Developmental and epileptic encephalopathy 53, MIM# 617389
Genetic Epilepsy v0.2759 SYNJ1 Zornitza Stark Marked gene: SYNJ1 as ready
Genetic Epilepsy v0.2759 SYNJ1 Zornitza Stark Gene: synj1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2759 SYNJ1 Zornitza Stark Phenotypes for gene: SYNJ1 were changed from Developmental and epileptic encephalopathy 53, MIM# 617389; Parkinson disease 20, early-onset, MIM# 615530 to Developmental and epileptic encephalopathy 53, MIM# 617389
Genetic Epilepsy v0.2759 WDR73 Ain Roesley Phenotypes for gene: WDR73 were changed from Galloway-Mowat syndrome 1 MIM#251300 to Galloway-Mowat syndrome 1 MIM#251300
Genetic Epilepsy v0.2759 WDR73 Ain Roesley Publications for gene: WDR73 were set to 25466283; 26123727; 25873735; 26070982; 30315938
Genetic Epilepsy v0.2758 WDR73 Ain Roesley Marked gene: WDR73 as ready
Genetic Epilepsy v0.2758 WDR73 Ain Roesley Gene: wdr73 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2758 WDR73 Ain Roesley Phenotypes for gene: WDR73 were changed from to Galloway-Mowat syndrome 1 MIM#251300
Genetic Epilepsy v0.2758 WDR73 Ain Roesley Publications for gene: WDR73 were set to
Genetic Epilepsy v0.2758 WDR73 Ain Roesley Mode of inheritance for gene: WDR73 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2757 RAB18 Zornitza Stark Marked gene: RAB18 as ready
Genetic Epilepsy v0.2757 RAB18 Zornitza Stark Gene: rab18 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2757 RAB18 Zornitza Stark Phenotypes for gene: RAB18 were changed from to Warburg micro syndrome 3, MIM# 614222
Genetic Epilepsy v0.2756 RAB18 Zornitza Stark Publications for gene: RAB18 were set to
Genetic Epilepsy v0.2755 RAB18 Zornitza Stark Mode of inheritance for gene: RAB18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2754 RAB18 Zornitza Stark changed review comment from: Autosomal recessive syndrome characterised by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. At least 7 families reported, including 4 Pakistani families with a founder variant, p.Leu24Gln; to: Autosomal recessive syndrome characterised by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. At least 7 families reported, including 4 Pakistani families with a founder variant, p.Leu24Gln. Seizures are part of the phenotype.
Genetic Epilepsy v0.2754 ZDHHC15 Zornitza Stark Phenotypes for gene: ZDHHC15 were changed from Mental retardation X-linked 91, 300577; cerebral palsy; intellectual disability; autism spectrum disorder; epilepsy to Intellectual disability, X-linked 91, 300577
Genetic Epilepsy v0.2753 ZDHHC15 Zornitza Stark edited their review of gene: ZDHHC15: Changed phenotypes: Intellectual disability, X-linked 91, 300577
Genetic Epilepsy v0.2753 SYN1 Zornitza Stark Marked gene: SYN1 as ready
Genetic Epilepsy v0.2753 SYN1 Zornitza Stark Gene: syn1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2753 SYN1 Zornitza Stark Phenotypes for gene: SYN1 were changed from to Epilepsy, X-linked, with variable learning disabilities and behaviour disorders, MIM# 300491; Intellectual developmental disorder, X-linked 50, MIM# 300115
Genetic Epilepsy v0.2752 SYN1 Zornitza Stark Publications for gene: SYN1 were set to 14985377; 21441247; 28973667; 21441247; 34243774
Genetic Epilepsy v0.2752 SYN1 Zornitza Stark Publications for gene: SYN1 were set to
Genetic Epilepsy v0.2751 SYN1 Zornitza Stark Mode of inheritance for gene: SYN1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.2750 SURF1 Zornitza Stark Marked gene: SURF1 as ready
Genetic Epilepsy v0.2750 SURF1 Zornitza Stark Gene: surf1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2750 SURF1 Zornitza Stark Phenotypes for gene: SURF1 were changed from to Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110
Genetic Epilepsy v0.2749 SURF1 Zornitza Stark Publications for gene: SURF1 were set to
Genetic Epilepsy v0.2748 SURF1 Zornitza Stark Mode of inheritance for gene: SURF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2747 SURF1 Zornitza Stark changed review comment from: Well established gene-disease association with mitochondrial disease.; to: Well established gene-disease association with mitochondrial disease. Seizures are part of the phenotype.
Genetic Epilepsy v0.2747 SUOX Zornitza Stark Marked gene: SUOX as ready
Genetic Epilepsy v0.2747 SUOX Zornitza Stark Gene: suox has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2747 SUOX Zornitza Stark Phenotypes for gene: SUOX were changed from to Sulfite oxidase deficiency, MIM# 272300
Genetic Epilepsy v0.2746 SUOX Zornitza Stark Publications for gene: SUOX were set to
Genetic Epilepsy v0.2745 SUOX Zornitza Stark Mode of inheritance for gene: SUOX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2744 SUOX Zornitza Stark changed review comment from: More than 5 unrelated families reported.; to: More than 5 unrelated families reported. Seizures are part of the phenotype.
Genetic Epilepsy v0.2744 SUCLA2 Zornitza Stark Marked gene: SUCLA2 as ready
Genetic Epilepsy v0.2744 SUCLA2 Zornitza Stark Gene: sucla2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2744 SUCLA2 Zornitza Stark Phenotypes for gene: SUCLA2 were changed from to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791
Genetic Epilepsy v0.2743 SUCLA2 Zornitza Stark Publications for gene: SUCLA2 were set to
Genetic Epilepsy v0.2742 SUCLA2 Zornitza Stark Mode of inheritance for gene: SUCLA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2741 STRADA Zornitza Stark Marked gene: STRADA as ready
Genetic Epilepsy v0.2741 STRADA Zornitza Stark Gene: strada has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2741 STRADA Zornitza Stark Phenotypes for gene: STRADA were changed from to Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087; Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611
Genetic Epilepsy v0.2740 STRADA Zornitza Stark Publications for gene: STRADA were set to
Genetic Epilepsy v0.2739 STRADA Zornitza Stark Mode of inheritance for gene: STRADA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2738 STAG1 Zornitza Stark Marked gene: STAG1 as ready
Genetic Epilepsy v0.2738 STAG1 Zornitza Stark Gene: stag1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2738 STAG1 Zornitza Stark Phenotypes for gene: STAG1 were changed from to Intellectual disability, autosomal dominant 47, MIM# 617635
Genetic Epilepsy v0.2737 STAG1 Zornitza Stark Publications for gene: STAG1 were set to
Genetic Epilepsy v0.2736 STAG1 Zornitza Stark Mode of inheritance for gene: STAG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2735 STAG1 Zornitza Stark changed review comment from: Twelve unrelated individuals reported in the original paper.; to: Twelve unrelated individuals reported in the original paper. Seizures are part of the phenotype.
Genetic Epilepsy v0.2735 STAG1 Zornitza Stark edited their review of gene: STAG1: Changed phenotypes: Intellectual disability, autosomal dominant 47, MIM# 617635
Genetic Epilepsy v0.2735 SPR Zornitza Stark Marked gene: SPR as ready
Genetic Epilepsy v0.2735 SPR Zornitza Stark Gene: spr has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2735 SPR Zornitza Stark Phenotypes for gene: SPR were changed from to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716
Genetic Epilepsy v0.2734 SPR Zornitza Stark Publications for gene: SPR were set to
Genetic Epilepsy v0.2733 SPR Zornitza Stark Mode of inheritance for gene: SPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2732 SPR Zornitza Stark changed review comment from: Complex movement disorder, dystonia predominant, but ataxia described in some individuals. Most individuals have had bi-allelic variants identified, uncertain whether there is an association with mono-allelic variants.

Included due to phenotypic overlap.; to: Complex movement disorder, dystonia predominant, but ataxia described in some individuals. Most individuals have had bi-allelic variants identified, uncertain whether there is an association with mono-allelic variants.

Seizures reported.
Genetic Epilepsy v0.2732 SPR Zornitza Stark changed review comment from: Complex movement disorder, dystonia predominant, but ataxia described in some individuals. Most individuals have had bi-allelic variants identified, uncertain whether there is an association with mono-allelic variants.; to: Complex movement disorder, dystonia predominant, but ataxia described in some individuals. Most individuals have had bi-allelic variants identified, uncertain whether there is an association with mono-allelic variants.

Included due to phenotypic overlap.
Genetic Epilepsy v0.2732 SNAP25 Zornitza Stark Marked gene: SNAP25 as ready
Genetic Epilepsy v0.2732 SNAP25 Zornitza Stark Gene: snap25 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2732 SNAP25 Zornitza Stark Phenotypes for gene: SNAP25 were changed from to Neurodevelopmental disorder, MONDO:0700092, SNAP25-related
Genetic Epilepsy v0.2731 SNAP25 Zornitza Stark Publications for gene: SNAP25 were set to
Genetic Epilepsy v0.2730 SNAP25 Zornitza Stark Mode of inheritance for gene: SNAP25 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2729 SNAP25 Zornitza Stark changed review comment from: More than 5 unrelated individuals reported with a neurodevelopmental disorder.

Limited evidence for this being congenital myasthenic syndrome,; to: More than 5 unrelated individuals reported with a neurodevelopmental disorder, including seizures.

Limited evidence for this being congenital myasthenic syndrome,
Genetic Epilepsy v0.2729 SLC6A8 Zornitza Stark Marked gene: SLC6A8 as ready
Genetic Epilepsy v0.2729 SLC6A8 Zornitza Stark Gene: slc6a8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2729 SLC6A8 Zornitza Stark Phenotypes for gene: SLC6A8 were changed from Cerebral creatine deficiency syndrome 1, MIM# 300352 to Cerebral creatine deficiency syndrome 1, MIM# 300352
Genetic Epilepsy v0.2728 SLC6A8 Zornitza Stark Phenotypes for gene: SLC6A8 were changed from to Cerebral creatine deficiency syndrome 1, MIM# 300352
Genetic Epilepsy v0.2727 SLC6A8 Zornitza Stark Publications for gene: SLC6A8 were set to
Genetic Epilepsy v0.2726 SLC6A8 Zornitza Stark Mode of inheritance for gene: SLC6A8 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.2725 SLC6A8 Zornitza Stark changed review comment from: Well established gene-disease association.
Sources: Expert list; to: Well established gene-disease association. Seizures are part of the phenotype.
Sources: Expert list
Genetic Epilepsy v0.2725 SLC6A19 Zornitza Stark Marked gene: SLC6A19 as ready
Genetic Epilepsy v0.2725 SLC6A19 Zornitza Stark Gene: slc6a19 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2725 SLC6A19 Zornitza Stark Phenotypes for gene: SLC6A19 were changed from to Hartnup disorder, MIM# 234500
Genetic Epilepsy v0.2724 SLC6A19 Zornitza Stark Mode of inheritance for gene: SLC6A19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2723 SLC6A19 Zornitza Stark changed review comment from: Bi-allelic variants associated with Hartnup disorder, which is characterised by impaired transport of neutral amino acids across epithelial cells in renal proximal tubules and intestinal mucosa. Symptoms include transient manifestations of pellagra, cerebellar ataxia, and psychosis.

Hyperglycinuria/iminoglycinuria: The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria is a benign inborn error of amino acid transport, and is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG)
Sources: Expert list; to: Bi-allelic variants associated with Hartnup disorder, which is characterised by impaired transport of neutral amino acids across epithelial cells in renal proximal tubules and intestinal mucosa. Symptoms include transient manifestations of pellagra, cerebellar ataxia, and psychosis. Seizures are part of the phenotype.

Hyperglycinuria/iminoglycinuria: The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria is a benign inborn error of amino acid transport, and is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG)
Sources: Expert list
Genetic Epilepsy v0.2723 SLC6A19 Zornitza Stark edited their review of gene: SLC6A19: Changed phenotypes: Hartnup disorder, MIM# 234500; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2723 SLC35A2 Zornitza Stark Marked gene: SLC35A2 as ready
Genetic Epilepsy v0.2723 SLC35A2 Zornitza Stark Gene: slc35a2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2723 SLC35A2 Zornitza Stark Phenotypes for gene: SLC35A2 were changed from Congenital disorder of glycosylation, type IIm (MIM #300896) 30817854; Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) to Congenital disorder of glycosylation, type IIm (MIM #300896) 30817854; Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
Genetic Epilepsy v0.2722 SLC35A2 Zornitza Stark Phenotypes for gene: SLC35A2 were changed from to Congenital disorder of glycosylation, type IIm (MIM #300896) 30817854; Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
Genetic Epilepsy v0.2721 SLC35A2 Zornitza Stark Publications for gene: SLC35A2 were set to
Genetic Epilepsy v0.2720 SLC35A2 Zornitza Stark Mode of inheritance for gene: SLC35A2 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.2719 SLC35A2 Zornitza Stark Mode of inheritance for gene: SLC35A2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.2718 SLC2A1 Zornitza Stark Marked gene: SLC2A1 as ready
Genetic Epilepsy v0.2718 SLC2A1 Zornitza Stark Gene: slc2a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2718 SLC2A1 Zornitza Stark Phenotypes for gene: SLC2A1 were changed from to GLUT1 deficiency syndrome 1, infantile onset, severe, 606777; GLUT1 deficiency syndrome 2, childhood onset, 612126
Genetic Epilepsy v0.2717 SLC2A1 Zornitza Stark Publications for gene: SLC2A1 were set to
Genetic Epilepsy v0.2716 SLC2A1 Zornitza Stark Mode of inheritance for gene: SLC2A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.2715 SLC25A1 Zornitza Stark Marked gene: SLC25A1 as ready
Genetic Epilepsy v0.2715 SLC25A1 Zornitza Stark Gene: slc25a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2715 SLC25A1 Zornitza Stark Phenotypes for gene: SLC25A1 were changed from to Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072
Genetic Epilepsy v0.2714 SLC25A1 Zornitza Stark Publications for gene: SLC25A1 were set to
Genetic Epilepsy v0.2713 SLC25A1 Zornitza Stark Mode of inheritance for gene: SLC25A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2712 SLC25A1 Zornitza Stark reviewed gene: SLC25A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2712 SHROOM4 Zornitza Stark Marked gene: SHROOM4 as ready
Genetic Epilepsy v0.2712 SHROOM4 Zornitza Stark Gene: shroom4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2712 SETBP1 Zornitza Stark Marked gene: SETBP1 as ready
Genetic Epilepsy v0.2712 SETBP1 Zornitza Stark Gene: setbp1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2712 SETBP1 Zornitza Stark Phenotypes for gene: SETBP1 were changed from to Schinzel-Giedion midface retraction syndrome, MIM# 269150; Intellectual disability, autosomal dominant 29, MIM# 616078
Genetic Epilepsy v0.2711 SETBP1 Zornitza Stark Publications for gene: SETBP1 were set to
Genetic Epilepsy v0.2710 SETBP1 Zornitza Stark Mode of inheritance for gene: SETBP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2709 SEPSECS Zornitza Stark Marked gene: SEPSECS as ready
Genetic Epilepsy v0.2709 SEPSECS Zornitza Stark Gene: sepsecs has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2709 SEPSECS Zornitza Stark Phenotypes for gene: SEPSECS were changed from to Pontocerebellar hypoplasia type 2D, MIM# 613811
Genetic Epilepsy v0.2708 SEPSECS Zornitza Stark Publications for gene: SEPSECS were set to
Genetic Epilepsy v0.2707 SEPSECS Zornitza Stark Mode of inheritance for gene: SEPSECS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2706 SEPSECS Zornitza Stark changed review comment from: PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound mental retardation, spasticity, and variable seizures. At least 5 unrelated families reported.; to: PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound ID, spasticity, and variable seizures. At least 5 unrelated families reported.
Genetic Epilepsy v0.2706 SCO2 Zornitza Stark Marked gene: SCO2 as ready
Genetic Epilepsy v0.2706 SCO2 Zornitza Stark Gene: sco2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2706 SCO2 Zornitza Stark Phenotypes for gene: SCO2 were changed from to Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377
Genetic Epilepsy v0.2705 SCO2 Zornitza Stark Mode of inheritance for gene: SCO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2704 SCO2 Zornitza Stark reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10545952, 10749987, 18924171; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2704 SCN2A Zornitza Stark Marked gene: SCN2A as ready
Genetic Epilepsy v0.2704 SCN2A Zornitza Stark Gene: scn2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2704 SCN2A Zornitza Stark Phenotypes for gene: SCN2A were changed from to Seizures, benign familial infantile, 3, MIM# 607745; Developmental and epileptic encephalopathy 11, MIM# 613721
Genetic Epilepsy v0.2703 SCN2A Zornitza Stark Publications for gene: SCN2A were set to
Genetic Epilepsy v0.2702 SCN2A Zornitza Stark Mode of inheritance for gene: SCN2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2701 SCN2A Zornitza Stark changed review comment from: Classically presents with seizures and DD/ID although a range of other manifestations reported, including movement abnormalities, including ataxia. Rather than being discrete disorders, these probably represent a continuum of manifestations of a single brain channelopathy disorder.

Multiple families reported.; to: Classically presents with seizures and DD/ID although a range of other manifestations reported, including movement abnormalities, including DEE. Rather than being discrete disorders, these probably represent a continuum of manifestations of a single brain channelopathy disorder.

Multiple families reported.
Genetic Epilepsy v0.2701 SAMHD1 Zornitza Stark Marked gene: SAMHD1 as ready
Genetic Epilepsy v0.2701 SAMHD1 Zornitza Stark Gene: samhd1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2701 SAMHD1 Zornitza Stark Phenotypes for gene: SAMHD1 were changed from to Aicardi-Goutieres syndrome 5, MIM# 612952
Genetic Epilepsy v0.2700 SAMHD1 Zornitza Stark Publications for gene: SAMHD1 were set to
Genetic Epilepsy v0.2699 SAMHD1 Zornitza Stark Mode of inheritance for gene: SAMHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2698 RTTN Zornitza Stark Marked gene: RTTN as ready
Genetic Epilepsy v0.2698 RTTN Zornitza Stark Gene: rttn has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2698 RTTN Zornitza Stark Phenotypes for gene: RTTN were changed from to Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833
Genetic Epilepsy v0.2697 RTTN Zornitza Stark Publications for gene: RTTN were set to
Genetic Epilepsy v0.2696 RTTN Zornitza Stark Mode of inheritance for gene: RTTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2695 RTTN Zornitza Stark reviewed gene: RTTN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2695 RTN4IP1 Zornitza Stark Marked gene: RTN4IP1 as ready
Genetic Epilepsy v0.2695 RTN4IP1 Zornitza Stark Gene: rtn4ip1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2695 RTN4IP1 Zornitza Stark Phenotypes for gene: RTN4IP1 were changed from to Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732
Genetic Epilepsy v0.2694 RTN4IP1 Zornitza Stark Publications for gene: RTN4IP1 were set to
Genetic Epilepsy v0.2693 RTN4IP1 Zornitza Stark Mode of inheritance for gene: RTN4IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2692 RRM2B Zornitza Stark Marked gene: RRM2B as ready
Genetic Epilepsy v0.2692 RRM2B Zornitza Stark Gene: rrm2b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2692 RRM2B Zornitza Stark Phenotypes for gene: RRM2B were changed from to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075
Genetic Epilepsy v0.2691 RRM2B Zornitza Stark Publications for gene: RRM2B were set to
Genetic Epilepsy v0.2690 RRM2B Zornitza Stark Mode of inheritance for gene: RRM2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2689 RRM2B Zornitza Stark Deleted their review
Genetic Epilepsy v0.2689 RNU4ATAC Zornitza Stark Marked gene: RNU4ATAC as ready
Genetic Epilepsy v0.2689 RNU4ATAC Zornitza Stark Gene: rnu4atac has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2689 RNU4ATAC Zornitza Stark Phenotypes for gene: RNU4ATAC were changed from to Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710); Roifman syndrome (MIM# 616651); Lowry-Wood syndrome, MIM# 226960
Genetic Epilepsy v0.2688 RNU4ATAC Zornitza Stark Publications for gene: RNU4ATAC were set to
Genetic Epilepsy v0.2687 RNU4ATAC Zornitza Stark Mode of inheritance for gene: RNU4ATAC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2686 RNU4ATAC Zornitza Stark edited their review of gene: RNU4ATAC: Changed phenotypes: Microcephalic osteodysplastic primordial dwarfism, type I, MIM# 210710, Lowry-Wood syndrome, MIM# 226960
Genetic Epilepsy v0.2686 RNU4ATAC Zornitza Stark changed review comment from: Lowry-Wood syndrome (LWS) is characterized by multiple epiphyseal dysplasia and microcephaly. Patients exhibit intrauterine growth retardation and short stature, as well as developmental delay and intellectual disability. Retinal degeneration has been reported in some patients.

Four unrelated families reported.

Note features between the three RNU4ATAC-related conditions overlap and they may not represent distinct disorders.; to: Lowry-Wood syndrome (LWS) is characterized by multiple epiphyseal dysplasia and microcephaly. Patients exhibit intrauterine growth retardation and short stature, as well as developmental delay and intellectual disability. Retinal degeneration has been reported in some patients.

Four unrelated families reported.

Note features between the three RNU4ATAC-related conditions overlap and they may not represent distinct disorders.

Seizures reported with the Microcephalic osteodysplastic primordial dwarfism, type I, MIM# 210710 phenotype.
Genetic Epilepsy v0.2686 RNASET2 Zornitza Stark Marked gene: RNASET2 as ready
Genetic Epilepsy v0.2686 RNASET2 Zornitza Stark Gene: rnaset2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2686 RNASET2 Zornitza Stark Phenotypes for gene: RNASET2 were changed from to Leukoencephalopathy, cystic, without megalencephaly MIM#612951
Genetic Epilepsy v0.2685 RNASET2 Zornitza Stark Publications for gene: RNASET2 were set to
Genetic Epilepsy v0.2684 RNASET2 Zornitza Stark Mode of inheritance for gene: RNASET2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2683 RNASEH2C Zornitza Stark Marked gene: RNASEH2C as ready
Genetic Epilepsy v0.2683 RNASEH2C Zornitza Stark Gene: rnaseh2c has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2683 RNASEH2C Zornitza Stark Phenotypes for gene: RNASEH2C were changed from to Aicardi-Goutieres syndrome 3 (MIM# 610329)
Genetic Epilepsy v0.2682 RNASEH2C Zornitza Stark Publications for gene: RNASEH2C were set to
Genetic Epilepsy v0.2681 RNASEH2C Zornitza Stark Mode of inheritance for gene: RNASEH2C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2680 RNASEH2B Zornitza Stark Marked gene: RNASEH2B as ready
Genetic Epilepsy v0.2680 RNASEH2B Zornitza Stark Gene: rnaseh2b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2680 RNASEH2B Zornitza Stark Phenotypes for gene: RNASEH2B were changed from to Aicardi-Goutieres syndrome 2, MIM# 610181
Genetic Epilepsy v0.2679 RNASEH2B Zornitza Stark Publications for gene: RNASEH2B were set to
Genetic Epilepsy v0.2678 RNASEH2B Zornitza Stark Mode of inheritance for gene: RNASEH2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2677 RNASEH2A Zornitza Stark Marked gene: RNASEH2A as ready
Genetic Epilepsy v0.2677 RNASEH2A Zornitza Stark Gene: rnaseh2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2677 RNASEH2A Zornitza Stark Marked gene: RNASEH2A as ready
Genetic Epilepsy v0.2677 RNASEH2A Zornitza Stark Gene: rnaseh2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2677 RNASEH2A Zornitza Stark Phenotypes for gene: RNASEH2A were changed from to Aicardi-Goutieres syndrome 4 MIM#610333
Genetic Epilepsy v0.2676 RNASEH2A Zornitza Stark Publications for gene: RNASEH2A were set to
Genetic Epilepsy v0.2675 RNASEH2A Zornitza Stark Mode of inheritance for gene: RNASEH2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2674 POMT1 Zornitza Stark Marked gene: POMT1 as ready
Genetic Epilepsy v0.2674 POMT1 Zornitza Stark Gene: pomt1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2674 POMT1 Zornitza Stark Phenotypes for gene: POMT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670
Genetic Epilepsy v0.2673 POMT1 Zornitza Stark Mode of inheritance for gene: POMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2672 POMT1 Zornitza Stark edited their review of gene: POMT1: Changed phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670
Genetic Epilepsy v0.2672 POMT1 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Seizures are part of the more severe end of the phenotype.
Genetic Epilepsy v0.2672 POMGNT1 Zornitza Stark Marked gene: POMGNT1 as ready
Genetic Epilepsy v0.2672 POMGNT1 Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2672 POMGNT1 Zornitza Stark Phenotypes for gene: POMGNT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 MIM#614830
Genetic Epilepsy v0.2671 POMGNT1 Zornitza Stark Publications for gene: POMGNT1 were set to
Genetic Epilepsy v0.2670 POMGNT1 Zornitza Stark Mode of inheritance for gene: POMGNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2669 POMGNT1 Zornitza Stark changed review comment from: PMID 26908613 and 27391550: 4 unrelated families with isolated RP in adults.

Well established association with dystroglycanopathy.; to: Well established association with dystroglycanopathy. Seizures are a feature of the more severe end of the spectrum.
Genetic Epilepsy v0.2669 POLG Zornitza Stark Marked gene: POLG as ready
Genetic Epilepsy v0.2669 POLG Zornitza Stark Gene: polg has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2669 POLG Zornitza Stark Phenotypes for gene: POLG were changed from to Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM# 613662
Genetic Epilepsy v0.2668 POLG Zornitza Stark Publications for gene: POLG were set to
Genetic Epilepsy v0.2667 POLG Zornitza Stark Mode of inheritance for gene: POLG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2666 POLG Zornitza Stark edited their review of gene: POLG: Added comment: Seizures are a feature of the more severe, recessive disorders associated with this gene.; Changed phenotypes: Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700, Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM# 613662; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2666 STAT3 Ain Roesley Marked gene: STAT3 as ready
Genetic Epilepsy v0.2666 STAT3 Ain Roesley Gene: stat3 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2666 STAT3 Ain Roesley gene: STAT3 was added
gene: STAT3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: STAT3 was set to Unknown
Publications for gene: STAT3 were set to 36935347
Review for gene: STAT3 was set to RED
gene: STAT3 was marked as current diagnostic
Added comment: No evidence of STAT3 being reported in individuals with seizures/epilepsy. Only mouse models.
Sources: Literature
Genetic Epilepsy v0.2665 KCNIP4 Ain Roesley Marked gene: KCNIP4 as ready
Genetic Epilepsy v0.2665 KCNIP4 Ain Roesley Gene: kcnip4 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2665 KCNIP4 Ain Roesley gene: KCNIP4 was added
gene: KCNIP4 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KCNIP4 was set to Unknown
Publications for gene: KCNIP4 were set to 33826137
Phenotypes for gene: KCNIP4 were set to seizures; epilepsy
Review for gene: KCNIP4 was set to RED
gene: KCNIP4 was marked as current diagnostic
Added comment: single paper describing insertions of L1 retrotransposons in KCNIP4
samples were post-mortem of resected temporal cortex from individuals with idiopathic temporal lobe epilepsy

1x de novo insertion of L1 in KCNIP4 however ddPCR revealed that this did NOT alter KCNIP4 mRNA expression
Sources: Literature
Genetic Epilepsy v0.2664 IDH1 Ain Roesley Marked gene: IDH1 as ready
Genetic Epilepsy v0.2664 IDH1 Ain Roesley Gene: idh1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2664 IDH1 Ain Roesley gene: IDH1 was added
gene: IDH1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: IDH1 was set to Other
Phenotypes for gene: IDH1 were set to Ollier disease MONDO:0008145; Maffucci syndromeMONDO:0013808
Review for gene: IDH1 was set to RED
gene: IDH1 was marked as current diagnostic
Added comment: unable to find evidence of seizures/epilepsy for Ollier or Maffucci syndrome
Sources: Literature
Genetic Epilepsy v0.2663 FGFR1 Ain Roesley Marked gene: FGFR1 as ready
Genetic Epilepsy v0.2663 FGFR1 Ain Roesley Gene: fgfr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2663 FGFR1 Ain Roesley Classified gene: FGFR1 as Green List (high evidence)
Genetic Epilepsy v0.2663 FGFR1 Ain Roesley Gene: fgfr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2662 FGFR1 Ain Roesley gene: FGFR1 was added
gene: FGFR1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: FGFR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FGFR1 were set to 26937548; 31512363; 23812909; 26931467
Phenotypes for gene: FGFR1 were set to Hartsfield syndrome (MIM#615465)
Review for gene: FGFR1 was set to GREEN
gene: FGFR1 was marked as current diagnostic
Added comment: Seizures is part of the phenotypic spectrum of Hartsfield Syndrome

*rare reports of AR Hartsfield
Sources: Literature
Genetic Epilepsy v0.2661 CHRNA7 Ain Roesley Marked gene: CHRNA7 as ready
Genetic Epilepsy v0.2661 CHRNA7 Ain Roesley Gene: chrna7 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2661 CHRNA7 Ain Roesley gene: CHRNA7 was added
gene: CHRNA7 was added to Genetic Epilepsy. Sources: Literature
cnv tags were added to gene: CHRNA7.
Mode of inheritance for gene: CHRNA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHRNA7 were set to 20979196; 21596161; 21290787
Phenotypes for gene: CHRNA7 were set to intellectual disability; seizures; hypotonia
Review for gene: CHRNA7 was set to RED
gene: CHRNA7 was marked as current diagnostic
Added comment: Homozygous deletion of 15q13.3, which includes CHRNA7, causes ID, hypotonia, seizures, encephalopathy
Sources: Literature
Genetic Epilepsy v0.2660 MAST3 Sarah Leigh reviewed gene: MAST3: Rating: GREEN; Mode of pathogenicity: None; Publications: 35095415; Phenotypes: ; Mode of inheritance: None
Genetic Epilepsy v0.2660 PNPO Zornitza Stark Marked gene: PNPO as ready
Genetic Epilepsy v0.2660 PNPO Zornitza Stark Gene: pnpo has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2660 PNPO Zornitza Stark Phenotypes for gene: PNPO were changed from Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090 to Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090
Genetic Epilepsy v0.2659 PNPO Zornitza Stark Phenotypes for gene: PNPO were changed from to Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090
Genetic Epilepsy v0.2658 PNPO Zornitza Stark Publications for gene: PNPO were set to 34769443; 33981986; 33748042; 32888189
Genetic Epilepsy v0.2657 PNPO Zornitza Stark Publications for gene: PNPO were set to
Genetic Epilepsy v0.2656 PNPO Zornitza Stark Mode of inheritance for gene: PNPO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2655 PNKP Zornitza Stark Marked gene: PNKP as ready
Genetic Epilepsy v0.2655 PNKP Zornitza Stark Gene: pnkp has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2655 PNKP Zornitza Stark Phenotypes for gene: PNKP were changed from to Microcephaly, seizures, and developmental delay, MIM# 613402
Genetic Epilepsy v0.2654 PNKP Zornitza Stark Publications for gene: PNKP were set to
Genetic Epilepsy v0.2653 PNKP Zornitza Stark Mode of inheritance for gene: PNKP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2652 PMM2 Zornitza Stark Marked gene: PMM2 as ready
Genetic Epilepsy v0.2652 PMM2 Zornitza Stark Gene: pmm2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2652 PMM2 Zornitza Stark Phenotypes for gene: PMM2 were changed from to Congenital disorder of glycosylation, type Ia (MIM#212065); Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease (HIPKD), MONDO:0020642, PMM2-related
Genetic Epilepsy v0.2651 PMM2 Zornitza Stark Publications for gene: PMM2 were set to
Genetic Epilepsy v0.2650 PMM2 Zornitza Stark Mode of inheritance for gene: PMM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2649 PIK3R2 Zornitza Stark Marked gene: PIK3R2 as ready
Genetic Epilepsy v0.2649 PIK3R2 Zornitza Stark Gene: pik3r2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2649 PIK3R2 Zornitza Stark Phenotypes for gene: PIK3R2 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM# 603387
Genetic Epilepsy v0.2648 PIK3R2 Zornitza Stark Publications for gene: PIK3R2 were set to
Genetic Epilepsy v0.2647 PIK3R2 Zornitza Stark Mode of inheritance for gene: PIK3R2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2646 PIK3R2 Zornitza Stark changed review comment from: More than 10 affected individuals reported. Some variants are recurrent.; to: More than 10 affected individuals reported. Some variants are recurrent. Seizures are part of the phenotype.
Genetic Epilepsy v0.2646 PIGC Zornitza Stark Marked gene: PIGC as ready
Genetic Epilepsy v0.2646 PIGC Zornitza Stark Gene: pigc has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2646 PIGC Zornitza Stark Phenotypes for gene: PIGC were changed from Glycosylphosphatidylinositol biosynthesis defect 16, MIM# 617816 to Glycosylphosphatidylinositol biosynthesis defect 16, MIM# 617816
Genetic Epilepsy v0.2645 PIGC Zornitza Stark Phenotypes for gene: PIGC were changed from to Glycosylphosphatidylinositol biosynthesis defect 16, MIM# 617816
Genetic Epilepsy v0.2644 PIGC Zornitza Stark Publications for gene: PIGC were set to 27694521; 32707268
Genetic Epilepsy v0.2643 PIGC Zornitza Stark Publications for gene: PIGC were set to
Genetic Epilepsy v0.2642 PIGC Zornitza Stark Mode of inheritance for gene: PIGC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2641 PHGDH Zornitza Stark Marked gene: PHGDH as ready
Genetic Epilepsy v0.2641 PHGDH Zornitza Stark Gene: phgdh has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2641 PHGDH Zornitza Stark Phenotypes for gene: PHGDH were changed from to Neu-Laxova syndrome 1, MIM# 256520; Phosphoglycerate dehydrogenase deficiency, MIM# 601815
Genetic Epilepsy v0.2640 PHGDH Zornitza Stark Publications for gene: PHGDH were set to
Genetic Epilepsy v0.2639 PHGDH Zornitza Stark Mode of inheritance for gene: PHGDH was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2638 PHGDH Zornitza Stark Mode of inheritance for gene: PHGDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2637 PHGDH Zornitza Stark changed review comment from: Well established gene-disease association, severity depends on amount of residual enzyme activity.; to: Well established gene-disease association, severity depends on amount of residual enzyme activity, seizures are part of the phenotype.
Genetic Epilepsy v0.2637 PEX7 Zornitza Stark Phenotypes for gene: PEX7 were changed from Peroxisome biogenesis disorder 9B, MIM# 614879 to Peroxisome biogenesis disorder 9B, MIM# 614879
Genetic Epilepsy v0.2636 PEX7 Zornitza Stark Marked gene: PEX7 as ready
Genetic Epilepsy v0.2636 PEX7 Zornitza Stark Gene: pex7 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2636 PEX7 Zornitza Stark Phenotypes for gene: PEX7 were changed from Peroxisome biogenesis disorder 9B, MIM# 614879 to Peroxisome biogenesis disorder 9B, MIM# 614879
Genetic Epilepsy v0.2635 PEX7 Zornitza Stark Phenotypes for gene: PEX7 were changed from to Peroxisome biogenesis disorder 9B, MIM# 614879
Genetic Epilepsy v0.2634 PEX7 Zornitza Stark Publications for gene: PEX7 were set to
Genetic Epilepsy v0.2633 PEX7 Zornitza Stark Mode of inheritance for gene: PEX7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2632 PEX6 Zornitza Stark Marked gene: PEX6 as ready
Genetic Epilepsy v0.2632 PEX6 Zornitza Stark Gene: pex6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2632 PEX6 Zornitza Stark Phenotypes for gene: PEX6 were changed from to Peroxisome biogenesis disorder 4A (Zellweger), MIM# 614862
Genetic Epilepsy v0.2631 PEX6 Zornitza Stark Publications for gene: PEX6 were set to
Genetic Epilepsy v0.2630 PEX6 Zornitza Stark Mode of inheritance for gene: PEX6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2629 PEX5 Zornitza Stark Marked gene: PEX5 as ready
Genetic Epilepsy v0.2629 PEX5 Zornitza Stark Gene: pex5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2629 PEX5 Zornitza Stark Phenotypes for gene: PEX5 were changed from to Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110; Peroxisome biogenesis disorder 2B, MIM# 202370
Genetic Epilepsy v0.2628 PEX5 Zornitza Stark Publications for gene: PEX5 were set to
Genetic Epilepsy v0.2627 PEX5 Zornitza Stark Mode of inheritance for gene: PEX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2626 PEX3 Zornitza Stark Marked gene: PEX3 as ready
Genetic Epilepsy v0.2626 PEX3 Zornitza Stark Gene: pex3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2626 PEX3 Zornitza Stark Phenotypes for gene: PEX3 were changed from to Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882; Peroxisome biogenesis disorder 10B , MIM# 617370
Genetic Epilepsy v0.2625 PEX3 Zornitza Stark Publications for gene: PEX3 were set to
Genetic Epilepsy v0.2624 PEX3 Zornitza Stark Mode of inheritance for gene: PEX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2623 MOCS2 Zornitza Stark Marked gene: MOCS2 as ready
Genetic Epilepsy v0.2623 MOCS2 Zornitza Stark Gene: mocs2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2623 MOCS2 Zornitza Stark Phenotypes for gene: MOCS2 were changed from to Molybdenum cofactor deficiency B MIM#252160
Genetic Epilepsy v0.2622 SGCE Zornitza Stark Marked gene: SGCE as ready
Genetic Epilepsy v0.2622 SGCE Zornitza Stark Gene: sgce has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2622 SGCE Zornitza Stark Classified gene: SGCE as Green List (high evidence)
Genetic Epilepsy v0.2622 SGCE Zornitza Stark Gene: sgce has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2621 SGCE Zornitza Stark gene: SGCE was added
gene: SGCE was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SGCE was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: SGCE were set to 15389977; 12821748; 24297365
Phenotypes for gene: SGCE were set to Dystonia-11, myoclonic, MIM# 159900
Review for gene: SGCE was set to GREEN
Added comment: Occasional reports of epilepsy in this disorder; however, also included due to possible phenotypic overlap.
Sources: Expert list
Genetic Epilepsy v0.2620 SRD5A3 Zornitza Stark Marked gene: SRD5A3 as ready
Genetic Epilepsy v0.2620 SRD5A3 Zornitza Stark Gene: srd5a3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2620 SRD5A3 Zornitza Stark Classified gene: SRD5A3 as Amber List (moderate evidence)
Genetic Epilepsy v0.2620 SRD5A3 Zornitza Stark Gene: srd5a3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2619 SRD5A3 Zornitza Stark gene: SRD5A3 was added
gene: SRD5A3 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SRD5A3 were set to 26219881
Phenotypes for gene: SRD5A3 were set to Congenital disorder of glycosylation, type Iq, MIM# 612379
Review for gene: SRD5A3 was set to AMBER
Added comment: Many CDGs have epilepsy as a feature, and note brain abnormalities with this particular CDG,w which may be expected to contribute to the development of epilepsy. However, paucity of reports of patients with molecularly confirmed diagnosis and epilepsy.
Sources: Expert list
Genetic Epilepsy v0.2618 MAGI2 Zornitza Stark Marked gene: MAGI2 as ready
Genetic Epilepsy v0.2618 MAGI2 Zornitza Stark Gene: magi2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2618 MAGI2 Zornitza Stark gene: MAGI2 was added
gene: MAGI2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: MAGI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAGI2 were set to 26030165; 25497044; 31056551
Phenotypes for gene: MAGI2 were set to Monogenic epilepsy, MONDO:0015653, MAGI2-related
Review for gene: MAGI2 was set to RED
Added comment: Reported as a candidate gene for epilepsy but evidence is contradictory.
Sources: Expert list
Genetic Epilepsy v0.2617 CACNB4 Zornitza Stark Marked gene: CACNB4 as ready
Genetic Epilepsy v0.2617 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2617 CACNB4 Zornitza Stark Classified gene: CACNB4 as Amber List (moderate evidence)
Genetic Epilepsy v0.2617 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2616 CACNB4 Zornitza Stark gene: CACNB4 was added
gene: CACNB4 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNB4 were set to 10762541; 35813387; 31056551; 22892567
Phenotypes for gene: CACNB4 were set to {Epilepsy, idiopathic generalized, susceptibility to, 9} 607682; {Epilepsy, juvenile myoclonic, susceptibility to, 6} 607682
Review for gene: CACNB4 was set to AMBER
Added comment: Good biological candidate but may be a susceptibility locus. Some of the variants reported have relatively high frequencies in gnomAD, and others are reported as part of large cohort studies with little supporting information regarding pathogenicity.
Sources: Expert list
Genetic Epilepsy v0.2615 GLUL Zornitza Stark Phenotypes for gene: GLUL were changed from Glutamine deficiency, congenital MIM#610015; Developmental and epileptic encephalopathy, MONDO:0100062, GLUL-related to Glutamine deficiency, congenital MIM#610015; Developmental and epileptic encephalopathy 116, MIM# 620806
Genetic Epilepsy v0.2614 GLUL Zornitza Stark edited their review of gene: GLUL: Changed phenotypes: Glutamine deficiency, congenital MIM#610015, Developmental and epileptic encephalopathy 116, MIM# 620806
Genetic Epilepsy v0.2614 MBOAT7 Zornitza Stark Mode of inheritance for gene: MBOAT7 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2613 MBOAT7 Zornitza Stark reviewed gene: MBOAT7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2613 NOTCH3 Ain Roesley Phenotypes for gene: NOTCH3 were changed from neurodevelopmental disorder MONDO:0700092, NOTCH3-related; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 - 125310 to neurodevelopmental disorder MONDO:0700092, NOTCH3-related; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 - 125310
Genetic Epilepsy v0.2612 NOTCH3 Ain Roesley Phenotypes for gene: NOTCH3 were changed from Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 - 125310 to neurodevelopmental disorder MONDO:0700092, NOTCH3-related; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 - 125310
Genetic Epilepsy v0.2612 NOTCH3 Ain Roesley Mode of inheritance for gene: NOTCH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2612 NOTCH3 Ain Roesley Classified gene: NOTCH3 as Green List (high evidence)
Genetic Epilepsy v0.2612 NOTCH3 Ain Roesley Gene: notch3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2611 NOTCH3 Ain Roesley reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: neurodevelopmental disorder MONDO:0700092, NOTCH3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Genetic Epilepsy v0.2611 OTUD7A Zornitza Stark Phenotypes for gene: OTUD7A were changed from Intellectual disability; Epilepsy to Neurodevelopmental disorder with hypotonia and seizures, MIM# 620790
Genetic Epilepsy v0.2610 OTUD7A Zornitza Stark edited their review of gene: OTUD7A: Changed phenotypes: Neurodevelopmental disorder with hypotonia and seizures, MIM# 620790
Genetic Epilepsy v0.2610 EFHC1 Zornitza Stark Tag disputed was removed from gene: EFHC1.
Tag refuted tag was added to gene: EFHC1.
Genetic Epilepsy v0.2610 SCN1A Zornitza Stark Publications for gene: SCN1A were set to 30368457; 12754708; 25754450; 32928894
Genetic Epilepsy v0.2609 SCN1A Zornitza Stark Publications for gene: SCN1A were set to
Genetic Epilepsy v0.2608 SCN1B Zornitza Stark Marked gene: SCN1B as ready
Genetic Epilepsy v0.2608 SCN1B Zornitza Stark Gene: scn1b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2608 SCN1B Zornitza Stark Phenotypes for gene: SCN1B were changed from Developmental and epileptic encephalopathy (MONDO:0100062); generalized epilepsy with febrile seizures plus (MONDO:0018214) to Developmental and epileptic encephalopathy (MONDO:0100062); generalized epilepsy with febrile seizures plus (MONDO:0018214)
Genetic Epilepsy v0.2607 SCN1B Zornitza Stark Phenotypes for gene: SCN1B were changed from to Developmental and epileptic encephalopathy (MONDO:0100062); generalized epilepsy with febrile seizures plus (MONDO:0018214)
Genetic Epilepsy v0.2606 SCN1B Zornitza Stark Publications for gene: SCN1B were set to
Genetic Epilepsy v0.2605 SCN1B Zornitza Stark Mode of inheritance for gene: SCN1B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.2604 SLC12A5 Zornitza Stark Marked gene: SLC12A5 as ready
Genetic Epilepsy v0.2604 SLC12A5 Zornitza Stark Gene: slc12a5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2604 SLC12A5 Zornitza Stark Phenotypes for gene: SLC12A5 were changed from Developmental and epileptic encephalopathy 34, MIM# 616645; {Epilepsy, idiopathic generalized, susceptibility to, 14}, MIM# 616685 to Developmental and epileptic encephalopathy 34, MIM# 616645; {Epilepsy, idiopathic generalized, susceptibility to, 14}, MIM# 616685
Genetic Epilepsy v0.2603 SLC12A5 Zornitza Stark Phenotypes for gene: SLC12A5 were changed from Developmental and epileptic encephalopathy 34, MIM# 616645; {Epilepsy, idiopathic generalized, susceptibility to, 14}, MIM# 616685 to Developmental and epileptic encephalopathy 34, MIM# 616645; {Epilepsy, idiopathic generalized, susceptibility to, 14}, MIM# 616685
Genetic Epilepsy v0.2602 SLC12A5 Zornitza Stark Phenotypes for gene: SLC12A5 were changed from to Developmental and epileptic encephalopathy 34, MIM# 616645; {Epilepsy, idiopathic generalized, susceptibility to, 14}, MIM# 616685
Genetic Epilepsy v0.2601 SLC12A5 Zornitza Stark Publications for gene: SLC12A5 were set to
Genetic Epilepsy v0.2600 SLC12A5 Zornitza Stark Mode of inheritance for gene: SLC12A5 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genetic Epilepsy v0.2599 SLC12A5 Sangavi Sivagnanasundram reviewed gene: SLC12A5: Rating: AMBER; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006147; Phenotypes: developmental and epileptic encephalopathy MONDO:0100062; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2599 SERPINI1 Sangavi Sivagnanasundram reviewed gene: SERPINI1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006114; Phenotypes: progressive myoclonus epilepsy MONDO:0020074; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2599 SCN1B Sangavi Sivagnanasundram reviewed gene: SCN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19710327, 28218389, 23148524; Phenotypes: Developmental and epileptic encephalopathy (MONDO:0100062), generalized epilepsy with febrile seizures plus (MONDO:0018214); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.2599 SCN1A Sangavi Sivagnanasundram reviewed gene: SCN1A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: generalized epilepsy with febrile seizures plus (MONDO:0018214), Dravet syndrome (MONDO:0100135), developmental and epileptic encephalopathy (MONDO:0100062), familial hemiplegic migraine (MONDO:0000700); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2599 RORB Sangavi Sivagnanasundram reviewed gene: RORB: Rating: ; Mode of pathogenicity: None; Publications: 27352968; Phenotypes: epilepsy MONDO:0005027; Mode of inheritance: None
Genetic Epilepsy v0.2599 NECAP1 Sangavi Sivagnanasundram reviewed gene: NECAP1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24399846, 30626896; Phenotypes: developmental and epileptic encephalopathy MONDO:0100062; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2599 KCNT1 Sangavi Sivagnanasundram reviewed gene: KCNT1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 23086397, 26725113; Phenotypes: childhood-onset epilepsy syndrome MONDO:0020072; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2599 EFHC1 Sangavi Sivagnanasundram reviewed gene: EFHC1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31056551, https://search.clinicalgenome.org/CCID:004730; Phenotypes: epilepsy MONDO:0005027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2599 CLCN2 Zornitza Stark Tag disputed was removed from gene: CLCN2.
Tag refuted tag was added to gene: CLCN2.
Genetic Epilepsy v0.2599 CLCN2 Sangavi Sivagnanasundram reviewed gene: CLCN2: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004463; Phenotypes: epilepsy (MONDO:0005027); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2599 IQSEC2 Ain Roesley Phenotypes for gene: IQSEC2 were changed from Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347 to Intellectual developmental disorder, X-linked 1 MIM#309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347
Genetic Epilepsy v0.2598 PEX19 Zornitza Stark Marked gene: PEX19 as ready
Genetic Epilepsy v0.2598 PEX19 Zornitza Stark Gene: pex19 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2598 PEX19 Zornitza Stark Phenotypes for gene: PEX19 were changed from to Peroxisome biogenesis disorder 12A (Zellweger) - MIM#614886
Genetic Epilepsy v0.2597 PEX19 Zornitza Stark Publications for gene: PEX19 were set to
Genetic Epilepsy v0.2596 PEX19 Zornitza Stark Mode of inheritance for gene: PEX19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2595 PEX19 Zornitza Stark reviewed gene: PEX19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 12A (Zellweger) - MIM#614886; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2595 PEX12 Zornitza Stark Marked gene: PEX12 as ready
Genetic Epilepsy v0.2595 PEX12 Zornitza Stark Gene: pex12 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2595 PEX12 Zornitza Stark Phenotypes for gene: PEX12 were changed from to Peroxisome biogenesis disorder 3A (Zellweger) - MIM#614859; Peroxisome biogenesis disorder 3B - MIM#266510
Genetic Epilepsy v0.2594 PEX12 Zornitza Stark Mode of inheritance for gene: PEX12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2593 PEX12 Zornitza Stark reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 3A (Zellweger) - MIM#614859, Peroxisome biogenesis disorder 3B - MIM#266510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2593 PEX1 Zornitza Stark Marked gene: PEX1 as ready
Genetic Epilepsy v0.2593 PEX1 Zornitza Stark Gene: pex1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2593 PEX1 Zornitza Stark Phenotypes for gene: PEX1 were changed from to Peroxisome biogenesis disorder 1A (Zellweger) 214100
Genetic Epilepsy v0.2592 PEX1 Zornitza Stark Publications for gene: PEX1 were set to
Genetic Epilepsy v0.2591 PEX1 Zornitza Stark Mode of inheritance for gene: PEX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2590 PEX1 Zornitza Stark reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 1A (Zellweger) 214100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2590 PDHX Zornitza Stark Marked gene: PDHX as ready
Genetic Epilepsy v0.2590 PDHX Zornitza Stark Gene: pdhx has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2590 PDHX Zornitza Stark Phenotypes for gene: PDHX were changed from to Lactic acidaemia due to PDX1 deficiency MIM#245349
Genetic Epilepsy v0.2589 PDHX Zornitza Stark Publications for gene: PDHX were set to
Genetic Epilepsy v0.2588 PDHX Zornitza Stark Mode of inheritance for gene: PDHX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2587 PDHX Zornitza Stark reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lactic acidaemia due to PDX1 deficiency MIM#245349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2587 PDHA1 Zornitza Stark Marked gene: PDHA1 as ready
Genetic Epilepsy v0.2587 PDHA1 Zornitza Stark Gene: pdha1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2587 PDHA1 Zornitza Stark Phenotypes for gene: PDHA1 were changed from to Pyruvate dehydrogenase E1-alpha deficiency - MIM#312170
Genetic Epilepsy v0.2586 PDHA1 Zornitza Stark Publications for gene: PDHA1 were set to
Genetic Epilepsy v0.2585 PDHA1 Zornitza Stark Mode of inheritance for gene: PDHA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.2584 PDHA1 Zornitza Stark reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency - MIM#312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.2584 PCDH12 Zornitza Stark Marked gene: PCDH12 as ready
Genetic Epilepsy v0.2584 PCDH12 Zornitza Stark Gene: pcdh12 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2584 PCDH12 Zornitza Stark Phenotypes for gene: PCDH12 were changed from to Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280
Genetic Epilepsy v0.2583 PCDH12 Zornitza Stark Publications for gene: PCDH12 were set to
Genetic Epilepsy v0.2582 PCDH12 Zornitza Stark Mode of inheritance for gene: PCDH12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2581 PCCB Zornitza Stark Marked gene: PCCB as ready
Genetic Epilepsy v0.2581 PCCB Zornitza Stark Gene: pccb has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2581 PCCB Zornitza Stark Phenotypes for gene: PCCB were changed from to Propionicacidemia - MIM#606054
Genetic Epilepsy v0.2580 PCCB Zornitza Stark Publications for gene: PCCB were set to
Genetic Epilepsy v0.2579 PCCB Zornitza Stark Mode of inheritance for gene: PCCB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2578 PCCB Zornitza Stark reviewed gene: PCCB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Propionicacidemia - MIM#606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2578 PCCA Zornitza Stark Marked gene: PCCA as ready
Genetic Epilepsy v0.2578 PCCA Zornitza Stark Gene: pcca has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2578 PCCA Zornitza Stark Phenotypes for gene: PCCA were changed from to Propionicacidemia - MIM#606054
Genetic Epilepsy v0.2577 PCCA Zornitza Stark Publications for gene: PCCA were set to
Genetic Epilepsy v0.2576 PCCA Zornitza Stark Mode of inheritance for gene: PCCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2575 PCCA Zornitza Stark reviewed gene: PCCA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Propionicacidemia - MIM#606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2575 OTUD6B Zornitza Stark Marked gene: OTUD6B as ready
Genetic Epilepsy v0.2575 OTUD6B Zornitza Stark Gene: otud6b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2575 OTUD6B Zornitza Stark Phenotypes for gene: OTUD6B were changed from to Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452
Genetic Epilepsy v0.2574 OTUD6B Zornitza Stark Publications for gene: OTUD6B were set to
Genetic Epilepsy v0.2573 OTUD6B Zornitza Stark Mode of inheritance for gene: OTUD6B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2572 OPHN1 Zornitza Stark Marked gene: OPHN1 as ready
Genetic Epilepsy v0.2572 OPHN1 Zornitza Stark Gene: ophn1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2572 OPHN1 Zornitza Stark Phenotypes for gene: OPHN1 were changed from to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, MIM#300486
Genetic Epilepsy v0.2571 OPHN1 Zornitza Stark Publications for gene: OPHN1 were set to
Genetic Epilepsy v0.2570 OPHN1 Zornitza Stark Mode of inheritance for gene: OPHN1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.2569 OPHN1 Zornitza Stark changed review comment from: OPHN1 variants cause cerebellar hypoplasia and distinctive facial appearance, macrocephaly is a feature. At least 8 families reported.; to: OPHN1 variants cause cerebellar hypoplasia and distinctive facial appearance, macrocephaly is a feature. At least 8 families reported.

Seizures are a feature.
Genetic Epilepsy v0.2569 OCLN Zornitza Stark Marked gene: OCLN as ready
Genetic Epilepsy v0.2569 OCLN Zornitza Stark Gene: ocln has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2569 OCLN Zornitza Stark Phenotypes for gene: OCLN were changed from to Pseudo-TORCH syndrome 1, MIM#251290
Genetic Epilepsy v0.2568 OCLN Zornitza Stark Publications for gene: OCLN were set to
Genetic Epilepsy v0.2567 OCLN Zornitza Stark Mode of inheritance for gene: OCLN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2566 NSD1 Zornitza Stark Marked gene: NSD1 as ready
Genetic Epilepsy v0.2566 NSD1 Zornitza Stark Gene: nsd1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2566 NSD1 Zornitza Stark Phenotypes for gene: NSD1 were changed from to Sotos syndrome 1 (MIM#117550), AD
Genetic Epilepsy v0.2565 NSD1 Zornitza Stark Publications for gene: NSD1 were set to
Genetic Epilepsy v0.2564 NSD1 Zornitza Stark Mode of inheritance for gene: NSD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2563 NSD1 Zornitza Stark reviewed gene: NSD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sotos syndrome 1 (MIM#117550), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2563 NGLY1 Zornitza Stark Marked gene: NGLY1 as ready
Genetic Epilepsy v0.2563 NGLY1 Zornitza Stark Gene: ngly1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2563 NGLY1 Zornitza Stark Phenotypes for gene: NGLY1 were changed from to Congenital disorder of deglycosylation, MIM# 615273
Genetic Epilepsy v0.2562 NGLY1 Zornitza Stark Publications for gene: NGLY1 were set to
Genetic Epilepsy v0.2561 NGLY1 Zornitza Stark Mode of inheritance for gene: NGLY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2560 NDUFV1 Zornitza Stark Marked gene: NDUFV1 as ready
Genetic Epilepsy v0.2560 NDUFV1 Zornitza Stark Gene: ndufv1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2560 NDUFV1 Zornitza Stark Phenotypes for gene: NDUFV1 were changed from to Mitochondrial complex I deficiency, nuclear type 4 MIM#618225
Genetic Epilepsy v0.2559 NDUFV1 Zornitza Stark Publications for gene: NDUFV1 were set to
Genetic Epilepsy v0.2558 NDUFV1 Zornitza Stark Mode of inheritance for gene: NDUFV1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2557 NDUFV1 Zornitza Stark reviewed gene: NDUFV1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 4 MIM#618225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2557 NDUFS8 Zornitza Stark Marked gene: NDUFS8 as ready
Genetic Epilepsy v0.2557 NDUFS8 Zornitza Stark Gene: ndufs8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2557 NDUFS8 Zornitza Stark Phenotypes for gene: NDUFS8 were changed from to Mitochondrial complex I deficiency, nuclear type 2 MIM#618222
Genetic Epilepsy v0.2556 NDUFS8 Zornitza Stark Publications for gene: NDUFS8 were set to
Genetic Epilepsy v0.2555 NDUFS8 Zornitza Stark Mode of inheritance for gene: NDUFS8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2554 NDUFS8 Zornitza Stark reviewed gene: NDUFS8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 2 MIM#618222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2554 NDUFS4 Zornitza Stark Marked gene: NDUFS4 as ready
Genetic Epilepsy v0.2554 NDUFS4 Zornitza Stark Gene: ndufs4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2554 NDUFS4 Zornitza Stark Phenotypes for gene: NDUFS4 were changed from to Mitochondrial complex I deficiency, nuclear type 1 - MIM#252010
Genetic Epilepsy v0.2553 NDUFS4 Zornitza Stark Publications for gene: NDUFS4 were set to
Genetic Epilepsy v0.2552 NDUFS4 Zornitza Stark Mode of inheritance for gene: NDUFS4 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2551 NDUFS4 Zornitza Stark Mode of inheritance for gene: NDUFS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2550 CAPRIN1 Zornitza Stark Phenotypes for gene: CAPRIN1 were changed from Neurodevelopmental disorder, CAPRIN1-related MONDO:0700092; Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636 to Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder, MIM# 620782; Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636
Genetic Epilepsy v0.2549 KDM5C Ain Roesley Phenotypes for gene: KDM5C were changed from Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534; MONDO:0010355 to Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534; MONDO:0010355
Genetic Epilepsy v0.2549 KDM5C Ain Roesley Phenotypes for gene: KDM5C were changed from Epilepsy; Intellectual Disability; microcephaly; Spasticity; hypothyroidism; Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534; MONDO:0010355 to Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534; MONDO:0010355
Genetic Epilepsy v0.2548 SNF8 Zornitza Stark Phenotypes for gene: SNF8 were changed from Developmental and epileptic encephalopathy 115, MIM#620783 to Developmental and epileptic encephalopathy 115, MIM#620783
Genetic Epilepsy v0.2547 SNF8 Zornitza Stark Phenotypes for gene: SNF8 were changed from Neurodevelopmental disorder (MONDO:0700092), SNF8-related to Developmental and epileptic encephalopathy 115, MIM#620783
Genetic Epilepsy v0.2546 SNF8 Zornitza Stark Classified gene: SNF8 as Green List (high evidence)
Genetic Epilepsy v0.2546 SNF8 Zornitza Stark Gene: snf8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2545 SNF8 Zornitza Stark reviewed gene: SNF8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 115, MIM#620783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2545 PURA Ain Roesley Phenotypes for gene: PURA were changed from Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158) to Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158)
Genetic Epilepsy v0.2545 PURA Ain Roesley Phenotypes for gene: PURA were changed from Mental retardation, autosomal dominant 31, MIM# 616158 to Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158)
Genetic Epilepsy v0.2544 GLUL Zornitza Stark Phenotypes for gene: GLUL were changed from Glutamine deficiency, congenital MIM#610015 to Glutamine deficiency, congenital MIM#610015; Developmental and epileptic encephalopathy, MONDO:0100062, GLUL-related
Genetic Epilepsy v0.2543 GLUL Zornitza Stark Mode of inheritance for gene: GLUL was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.2542 GLUL Zornitza Stark edited their review of gene: GLUL: Added comment: Nine individuals with de novo variants in this gene and DEE. Seven out of nine were start-loss variants and two out of nine disrupted 5′ UTR splicing resulting in splice exclusion of the initiation codon.; Changed phenotypes: Glutamine deficiency, congenital MIM#610015, Developmental and epileptic encephalopathy, MONDO:0100062, GLUL-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.2542 ZFHX3 Bryony Thompson Marked gene: ZFHX3 as ready
Genetic Epilepsy v0.2542 ZFHX3 Bryony Thompson Gene: zfhx3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2542 ZFHX3 Bryony Thompson Classified gene: ZFHX3 as Green List (high evidence)
Genetic Epilepsy v0.2542 ZFHX3 Bryony Thompson Gene: zfhx3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2541 ZFHX3 Bryony Thompson gene: ZFHX3 was added
gene: ZFHX3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ZFHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZFHX3 were set to 38508705
Phenotypes for gene: ZFHX3 were set to developmental and epileptic encephalopathy MONDO:0100062
Review for gene: ZFHX3 was set to GREEN
gene: ZFHX3 was marked as current diagnostic
Added comment: 8 unrelated probands with biallelic variants and a phenotype consistent with DEE and childhood partial epilepsy. Also a supporting Drosophila Zfh2 knockdown model with seizure-like behaviour.
Sources: Literature
Genetic Epilepsy v0.2540 KCNB2 Zornitza Stark Marked gene: KCNB2 as ready
Genetic Epilepsy v0.2540 KCNB2 Zornitza Stark Gene: kcnb2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2540 KCNB2 Zornitza Stark Classified gene: KCNB2 as Amber List (moderate evidence)
Genetic Epilepsy v0.2540 KCNB2 Zornitza Stark Gene: kcnb2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2539 KCNB2 Zornitza Stark gene: KCNB2 was added
gene: KCNB2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KCNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNB2 were set to 38503299
Phenotypes for gene: KCNB2 were set to neurodevelopmental disorder MONDO:0700092, KCNB2-related
Review for gene: KCNB2 was set to AMBER
Added comment: 7 individuals, all missense
5 de novo + 1x inherited from father who has hypotonia + 1x from asymptomatic father

2/5 MRI anomalies
2/5 cardiac anomalies
2/7 urogenital anomalies
7/7 with ID
2/7 epilepsy
2/7 hypotonia
Sources: Literature
Genetic Epilepsy v0.2538 SLC32A1 Zornitza Stark Phenotypes for gene: SLC32A1 were changed from Generalized epilepsy with febrile seizures plus, type 12, MIM# 620755 to Generalized epilepsy with febrile seizures plus, type 12, MIM# 620755; Developmental and epileptic encephalopathy 114, MIM# 620774
Genetic Epilepsy v0.2537 SLC32A1 Zornitza Stark edited their review of gene: SLC32A1: Changed phenotypes: Generalized epilepsy with febrile seizures plus, type 12, MIM# 620755, Developmental and epileptic encephalopathy 114, MIM# 620774
Genetic Epilepsy v0.2537 CRELD1 Zornitza Stark Phenotypes for gene: CRELD1 were changed from Developmental and epileptic encephalopathy, MONDO:0100062, CRELD1-related to Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771
Genetic Epilepsy v0.2536 CRELD1 Zornitza Stark edited their review of gene: CRELD1: Changed phenotypes: Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771
Genetic Epilepsy v0.2536 NDUFAF5 Zornitza Stark Marked gene: NDUFAF5 as ready
Genetic Epilepsy v0.2536 NDUFAF5 Zornitza Stark Gene: ndufaf5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2536 NDUFAF5 Zornitza Stark Phenotypes for gene: NDUFAF5 were changed from to Mitochondrial complex I deficiency, nuclear type 3 MIM#618224
Genetic Epilepsy v0.2535 NDUFAF5 Zornitza Stark Publications for gene: NDUFAF5 were set to
Genetic Epilepsy v0.2534 NDUFAF5 Zornitza Stark Mode of inheritance for gene: NDUFAF5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2533 NDUFAF5 Zornitza Stark reviewed gene: NDUFAF5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3 MIM#618224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2533 NDUFA1 Zornitza Stark Marked gene: NDUFA1 as ready
Genetic Epilepsy v0.2533 NDUFA1 Zornitza Stark Gene: ndufa1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2533 NDUFA1 Zornitza Stark Phenotypes for gene: NDUFA1 were changed from to Mitochondrial complex I deficiency, nuclear type 12 MIM#301020
Genetic Epilepsy v0.2532 NDUFA1 Zornitza Stark Publications for gene: NDUFA1 were set to
Genetic Epilepsy v0.2531 NDUFA1 Zornitza Stark Mode of inheritance for gene: NDUFA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.2530 NDUFA1 Zornitza Stark reviewed gene: NDUFA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 12 MIM#301020; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.2530 NDE1 Zornitza Stark Marked gene: NDE1 as ready
Genetic Epilepsy v0.2530 NDE1 Zornitza Stark Gene: nde1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2530 NDE1 Zornitza Stark Phenotypes for gene: NDE1 were changed from to Microhydranencephaly 605013; Lissencephaly 4 (with microcephaly) 614019
Genetic Epilepsy v0.2529 NDE1 Zornitza Stark Publications for gene: NDE1 were set to
Genetic Epilepsy v0.2528 NDE1 Zornitza Stark Mode of inheritance for gene: NDE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2527 NAGA Zornitza Stark Marked gene: NAGA as ready
Genetic Epilepsy v0.2527 NAGA Zornitza Stark Gene: naga has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2527 NAGA Zornitza Stark Phenotypes for gene: NAGA were changed from to Schindler disease, type I and type II 609241
Genetic Epilepsy v0.2526 NAGA Zornitza Stark Publications for gene: NAGA were set to
Genetic Epilepsy v0.2525 NAGA Zornitza Stark Mode of inheritance for gene: NAGA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2524 NAGA Zornitza Stark Classified gene: NAGA as Amber List (moderate evidence)
Genetic Epilepsy v0.2524 NAGA Zornitza Stark Gene: naga has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2523 NAGA Zornitza Stark edited their review of gene: NAGA: Changed rating: AMBER
Genetic Epilepsy v0.2523 MTOR Zornitza Stark Marked gene: MTOR as ready
Genetic Epilepsy v0.2523 MTOR Zornitza Stark Gene: mtor has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2523 MTOR Zornitza Stark Phenotypes for gene: MTOR were changed from to Smith-Kingsmore syndrome, MIM# 616638; Focal cortical dysplasia, type II, somatic, MIM# 607341; Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283
Genetic Epilepsy v0.2522 MTOR Zornitza Stark Mode of pathogenicity for gene: MTOR was changed from to Other
Genetic Epilepsy v0.2521 MTOR Zornitza Stark Publications for gene: MTOR were set to
Genetic Epilepsy v0.2520 MTOR Zornitza Stark Mode of inheritance for gene: MTOR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2519 MTHFR Zornitza Stark Marked gene: MTHFR as ready
Genetic Epilepsy v0.2519 MTHFR Zornitza Stark Gene: mthfr has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2519 MTHFR Zornitza Stark Phenotypes for gene: MTHFR were changed from Homocystinuria due to MTHFR deficiency MIM#236250 to Homocystinuria due to MTHFR deficiency MIM#236250
Genetic Epilepsy v0.2518 MTHFR Zornitza Stark Phenotypes for gene: MTHFR were changed from to Homocystinuria due to MTHFR deficiency MIM#236250
Genetic Epilepsy v0.2517 MTHFR Zornitza Stark Publications for gene: MTHFR were set to
Genetic Epilepsy v0.2516 MTHFR Zornitza Stark Mode of inheritance for gene: MTHFR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2515 MTHFR Zornitza Stark reviewed gene: MTHFR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Homocystinuria due to MTHFR deficiency MIM#236250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2515 MOCS2 Zornitza Stark Mode of inheritance for gene: MOCS2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2514 MOCS2 Zornitza Stark Mode of inheritance for gene: MOCS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2513 MOCS2 Zornitza Stark reviewed gene: MOCS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Molybdenum cofactor deficiency B MIM#252160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2513 MMADHC Zornitza Stark Marked gene: MMADHC as ready
Genetic Epilepsy v0.2513 MMADHC Zornitza Stark Gene: mmadhc has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2513 MMADHC Zornitza Stark Phenotypes for gene: MMADHC were changed from to Homocystinuria, cblD type, variant 1 MIM#277410; Methylmalonic aciduria and homocystinuria, cblD type MIM#277410; Methylmalonic aciduria, cblD type, variant 2 MIM#277410
Genetic Epilepsy v0.2513 MMADHC Zornitza Stark Publications for gene: MMADHC were set to
Genetic Epilepsy v0.2512 MMADHC Zornitza Stark Mode of inheritance for gene: MMADHC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2511 MMACHC Zornitza Stark Marked gene: MMACHC as ready
Genetic Epilepsy v0.2511 MMACHC Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2511 MMACHC Zornitza Stark Phenotypes for gene: MMACHC were changed from to Methylmalonic aciduria and homocystinuria, cblC type MIM#277400
Genetic Epilepsy v0.2510 MMACHC Zornitza Stark Publications for gene: MMACHC were set to
Genetic Epilepsy v0.2509 MMACHC Zornitza Stark Mode of inheritance for gene: MMACHC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2508 MLC1 Zornitza Stark Marked gene: MLC1 as ready
Genetic Epilepsy v0.2508 MLC1 Zornitza Stark Gene: mlc1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2508 MLC1 Zornitza Stark Phenotypes for gene: MLC1 were changed from to Megalencephalic leukoencephalopathy with subcortical cysts (MIM#604004)
Genetic Epilepsy v0.2507 MLC1 Zornitza Stark Publications for gene: MLC1 were set to
Genetic Epilepsy v0.2506 MLC1 Zornitza Stark Mode of inheritance for gene: MLC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2505 MFF Zornitza Stark Marked gene: MFF as ready
Genetic Epilepsy v0.2505 MFF Zornitza Stark Gene: mff has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2505 MFF Zornitza Stark Phenotypes for gene: MFF were changed from to Encephalopathy due to defective mitochondrial and peroxisomal fission 2, MIM# 617086
Genetic Epilepsy v0.2504 MFF Zornitza Stark Publications for gene: MFF were set to
Genetic Epilepsy v0.2503 MFF Zornitza Stark Mode of inheritance for gene: MFF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2502 SV2A Zornitza Stark Phenotypes for gene: SV2A were changed from Neurodevelopmental disorder, MONDO:0700092, SV2A-related; Developmental and epileptic encephalopathy 113, MIM# 620772 to Neurodevelopmental disorder, MONDO:0700092, SV2A-related; Developmental and epileptic encephalopathy 113, MIM# 620772
Genetic Epilepsy v0.2501 SV2A Zornitza Stark Phenotypes for gene: SV2A were changed from Neurodevelopmental disorder, MONDO:0700092, SV2A-related to Neurodevelopmental disorder, MONDO:0700092, SV2A-related; Developmental and epileptic encephalopathy 113, MIM# 620772
Genetic Epilepsy v0.2500 SV2A Zornitza Stark reviewed gene: SV2A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 113, MIM# 620772; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2500 MED12 Zornitza Stark Marked gene: MED12 as ready
Genetic Epilepsy v0.2500 MED12 Zornitza Stark Gene: med12 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2500 MED12 Zornitza Stark Mode of inheritance for gene: MED12 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.2499 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from to Ohdo syndrome, X-linked MIM#300895; Lujan-Fryns syndrome MIM#309520; Opitz-Kaveggia syndrome MIM#305450
Genetic Epilepsy v0.2498 MED12 Zornitza Stark Publications for gene: MED12 were set to 33244166; 32174975; 30006928; 27312080; 33244166
Genetic Epilepsy v0.2497 MED12 Zornitza Stark Publications for gene: MED12 were set to
Genetic Epilepsy v0.2497 MED12 Zornitza Stark Mode of inheritance for gene: MED12 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.2496 MECP2 Zornitza Stark Marked gene: MECP2 as ready
Genetic Epilepsy v0.2496 MECP2 Zornitza Stark Gene: mecp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2496 MECP2 Zornitza Stark Phenotypes for gene: MECP2 were changed from to Rett syndrome, MIM# 312750; Intellectual developmental disorder, X-linked, syndromic 13, MIM# 300055; Encephalopathy, neonatal severe, MIM# 300673
Genetic Epilepsy v0.2495 MECP2 Zornitza Stark Publications for gene: MECP2 were set to
Genetic Epilepsy v0.2494 MECP2 Zornitza Stark Mode of inheritance for gene: MECP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.2493 MBOAT7 Zornitza Stark Marked gene: MBOAT7 as ready
Genetic Epilepsy v0.2493 MBOAT7 Zornitza Stark Gene: mboat7 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2493 MBOAT7 Zornitza Stark Phenotypes for gene: MBOAT7 were changed from to intellectual disability MIM#617188
Genetic Epilepsy v0.2492 MBOAT7 Zornitza Stark Publications for gene: MBOAT7 were set to
Genetic Epilepsy v0.2491 MBOAT7 Zornitza Stark Mode of inheritance for gene: MBOAT7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2490 KCNJ11 Zornitza Stark Marked gene: KCNJ11 as ready
Genetic Epilepsy v0.2490 KCNJ11 Zornitza Stark Gene: kcnj11 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2490 KCNJ11 Zornitza Stark Phenotypes for gene: KCNJ11 were changed from to Diabetes mellitus, transient neonatal, 3 610582; Diabetes, permanent neonatal, with or without neurologic features 606176; Hyperinsulinemic hypoglycemia, familial, 2 601820
Genetic Epilepsy v0.2489 KCNJ11 Zornitza Stark Publications for gene: KCNJ11 were set to
Genetic Epilepsy v0.2488 KCNJ11 Zornitza Stark Mode of inheritance for gene: KCNJ11 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.2487 DYNC1H1 Zornitza Stark Marked gene: DYNC1H1 as ready
Genetic Epilepsy v0.2487 DYNC1H1 Zornitza Stark Gene: dync1h1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2487 DYNC1H1 Zornitza Stark Phenotypes for gene: DYNC1H1 were changed from to Cortical dysplasia, complex, with other brain malformations 13, MIM# 614563
Genetic Epilepsy v0.2486 DYNC1H1 Zornitza Stark Publications for gene: DYNC1H1 were set to
Genetic Epilepsy v0.2485 DYNC1H1 Zornitza Stark Mode of inheritance for gene: DYNC1H1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2484 DYNC1H1 Zornitza Stark edited their review of gene: DYNC1H1: Changed phenotypes: Cortical dysplasia, complex, with other brain malformations 13, MIM# 614563
Genetic Epilepsy v0.2484 MAP2K2 Zornitza Stark Marked gene: MAP2K2 as ready
Genetic Epilepsy v0.2484 MAP2K2 Zornitza Stark Gene: map2k2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2484 MAP2K2 Zornitza Stark Phenotypes for gene: MAP2K2 were changed from to Cardiofaciocutaneous syndrome 4, MIM# 615280
Genetic Epilepsy v0.2483 MAP2K2 Zornitza Stark Publications for gene: MAP2K2 were set to
Genetic Epilepsy v0.2482 MAP2K2 Zornitza Stark Mode of pathogenicity for gene: MAP2K2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Genetic Epilepsy v0.2481 MAP2K2 Zornitza Stark Mode of inheritance for gene: MAP2K2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2480 MAP2K1 Zornitza Stark Marked gene: MAP2K1 as ready
Genetic Epilepsy v0.2480 MAP2K1 Zornitza Stark Gene: map2k1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2480 MAP2K1 Zornitza Stark Phenotypes for gene: MAP2K1 were changed from to Cardiofaciocutaneous syndrome 3, MIM# 615279
Genetic Epilepsy v0.2479 MAP2K1 Zornitza Stark Publications for gene: MAP2K1 were set to
Genetic Epilepsy v0.2478 MAP2K1 Zornitza Stark Mode of pathogenicity for gene: MAP2K1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Genetic Epilepsy v0.2477 MAP2K1 Zornitza Stark Mode of inheritance for gene: MAP2K1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2476 MAF Zornitza Stark Marked gene: MAF as ready
Genetic Epilepsy v0.2476 MAF Zornitza Stark Gene: maf has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2476 MAF Zornitza Stark Phenotypes for gene: MAF were changed from to Ayme-Gripp syndrome (MIM#601088)
Genetic Epilepsy v0.2475 MAF Zornitza Stark Publications for gene: MAF were set to
Genetic Epilepsy v0.2474 MAF Zornitza Stark Mode of inheritance for gene: MAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2473 KIF1A Zornitza Stark Marked gene: KIF1A as ready
Genetic Epilepsy v0.2473 KIF1A Zornitza Stark Gene: kif1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2473 KIF1A Zornitza Stark Phenotypes for gene: KIF1A were changed from to NESCAV syndrome, MIM# 614255
Genetic Epilepsy v0.2472 KIF1A Zornitza Stark Publications for gene: KIF1A were set to
Genetic Epilepsy v0.2471 KIF1A Zornitza Stark Mode of inheritance for gene: KIF1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2470 KIF1A Zornitza Stark changed review comment from: HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs. At least 4 families reported, although 3 shared same founder variant.

De novo variants in this gene are also more commonly associated with spastic paraplegia, and a complex neurodevelopmental disorder, NESCAV syndrome.; to: De novo variants in this gene are also more commonly associated with spastic paraplegia, and a complex neurodevelopmental disorder, NESCAV syndrome, which can include seizures.
Genetic Epilepsy v0.2470 KIF1A Zornitza Stark edited their review of gene: KIF1A: Changed phenotypes: NESCAV syndrome, MIM# 614255; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2470 KIAA1109 Zornitza Stark Marked gene: KIAA1109 as ready
Genetic Epilepsy v0.2470 KIAA1109 Zornitza Stark Gene: kiaa1109 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2470 KIAA1109 Zornitza Stark Phenotypes for gene: KIAA1109 were changed from to lkuraya-Kucinskas syndrome, MIM# 617822
Genetic Epilepsy v0.2469 KIAA1109 Zornitza Stark Publications for gene: KIAA1109 were set to
Genetic Epilepsy v0.2468 KIAA1109 Zornitza Stark Mode of inheritance for gene: KIAA1109 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2467 KCTD7 Zornitza Stark Marked gene: KCTD7 as ready
Genetic Epilepsy v0.2467 KCTD7 Zornitza Stark Gene: kctd7 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2467 KCTD7 Zornitza Stark Phenotypes for gene: KCTD7 were changed from to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726), AR
Genetic Epilepsy v0.2466 KCTD7 Zornitza Stark Publications for gene: KCTD7 were set to
Genetic Epilepsy v0.2465 KCTD7 Zornitza Stark Mode of inheritance for gene: KCTD7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2464 ITPA Zornitza Stark Marked gene: ITPA as ready
Genetic Epilepsy v0.2464 ITPA Zornitza Stark Gene: itpa has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2464 ITPA Zornitza Stark Phenotypes for gene: ITPA were changed from to Developmental and epileptic encephalopathy 35, MIM# 616647
Genetic Epilepsy v0.2463 ITPA Zornitza Stark Publications for gene: ITPA were set to
Genetic Epilepsy v0.2462 ITPA Zornitza Stark Mode of inheritance for gene: ITPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2461 IKBKG Zornitza Stark Marked gene: IKBKG as ready
Genetic Epilepsy v0.2461 IKBKG Zornitza Stark Gene: ikbkg has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2461 IKBKG Zornitza Stark Phenotypes for gene: IKBKG were changed from to Incontinentia pigmenti, MIM# 308300
Genetic Epilepsy v0.2460 IKBKG Zornitza Stark Publications for gene: IKBKG were set to
Genetic Epilepsy v0.2459 IKBKG Zornitza Stark Mode of inheritance for gene: IKBKG was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.2458 IKBKG Zornitza Stark changed review comment from: X-linked systemic autoinflammatory disease (SAIDX) is characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy. Laboratory studies show hypogammaglobulinemia, increased or decreased white blood cell count, autoimmune cytopenias, elevated serum inflammatory markers, and a type I interferon signature. 6 unrelated boys and a girl reported. All variants resulted in absence of the domain encoded by exon 5 (NEMOdelEx5).

Note variants in this gene are associated with immunodeficiency +/- ectodermal features and with IP.; to: X-linked systemic autoinflammatory disease (SAIDX) is characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy. Laboratory studies show hypogammaglobulinemia, increased or decreased white blood cell count, autoimmune cytopenias, elevated serum inflammatory markers, and a type I interferon signature. 6 unrelated boys and a girl reported. All variants resulted in absence of the domain encoded by exon 5 (NEMOdelEx5).

Note variants in this gene are associated with immunodeficiency +/- ectodermal features and with IP.

Seizures reported in the IP phenotype.
Genetic Epilepsy v0.2458 IFIH1 Zornitza Stark Marked gene: IFIH1 as ready
Genetic Epilepsy v0.2458 IFIH1 Zornitza Stark Gene: ifih1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2458 IFIH1 Zornitza Stark Phenotypes for gene: IFIH1 were changed from to Aicardi-Goutieres syndrome 7, MIM#615846
Genetic Epilepsy v0.2457 IFIH1 Zornitza Stark Publications for gene: IFIH1 were set to
Genetic Epilepsy v0.2456 IFIH1 Zornitza Stark Mode of pathogenicity for gene: IFIH1 was changed from to Other
Genetic Epilepsy v0.2455 IFIH1 Zornitza Stark Mode of inheritance for gene: IFIH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2454 IDH2 Zornitza Stark Marked gene: IDH2 as ready
Genetic Epilepsy v0.2454 IDH2 Zornitza Stark Gene: idh2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2454 IDH2 Zornitza Stark Phenotypes for gene: IDH2 were changed from to D-2-hydroxyglutaric aciduria 2, MIM# 613657
Genetic Epilepsy v0.2453 IDH2 Zornitza Stark Publications for gene: IDH2 were set to
Genetic Epilepsy v0.2452 IDH2 Zornitza Stark Mode of inheritance for gene: IDH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2451 HTRA2 Zornitza Stark Marked gene: HTRA2 as ready
Genetic Epilepsy v0.2451 HTRA2 Zornitza Stark Gene: htra2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2451 HTRA2 Zornitza Stark Phenotypes for gene: HTRA2 were changed from to 3-methylglutaconic aciduria, type VIII, MIM# 617248
Genetic Epilepsy v0.2450 HTRA2 Zornitza Stark Publications for gene: HTRA2 were set to
Genetic Epilepsy v0.2449 HTRA2 Zornitza Stark Mode of inheritance for gene: HTRA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2448 HSPD1 Zornitza Stark changed review comment from: Multiple families reported with bi-allelic variants in HSPD1 and hypomyelinating leukodystrophy. Supportive mouse model. In addition, two unrelated individuals reported with same de novo missense p.Leu47Val and leukodystrophy.

In addition, mono-allelic variants found in families with SPG.; to: Multiple families reported with bi-allelic variants in HSPD1 and hypomyelinating leukodystrophy. Supportive mouse model. In addition, two unrelated individuals reported with same de novo missense p.Leu47Val and leukodystrophy.

In addition, mono-allelic variants found in families with SPG, not relevant to this panel.
Genetic Epilepsy v0.2448 HSPD1 Zornitza Stark edited their review of gene: HSPD1: Changed phenotypes: Leukodystrophy, hypomyelinating, 4, MIM# 612233; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2448 HSPD1 Zornitza Stark Marked gene: HSPD1 as ready
Genetic Epilepsy v0.2448 HSPD1 Zornitza Stark Gene: hspd1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2448 HSPD1 Zornitza Stark Phenotypes for gene: HSPD1 were changed from to Leukodystrophy, hypomyelinating, 4, MIM# 612233
Genetic Epilepsy v0.2447 HSPD1 Zornitza Stark Mode of inheritance for gene: HSPD1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2446 HSPD1 Zornitza Stark Publications for gene: HSPD1 were set to
Genetic Epilepsy v0.2445 HSPD1 Zornitza Stark Mode of inheritance for gene: HSPD1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.2444 HSD17B4 Zornitza Stark Marked gene: HSD17B4 as ready
Genetic Epilepsy v0.2444 HSD17B4 Zornitza Stark Gene: hsd17b4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2444 HSD17B4 Zornitza Stark Phenotypes for gene: HSD17B4 were changed from to D-bifunctional protein deficiency, AR (MIM#261515); Perrault syndrome 1, AR (MIM#233400)
Genetic Epilepsy v0.2443 HSD17B4 Zornitza Stark Publications for gene: HSD17B4 were set to
Genetic Epilepsy v0.2442 HSD17B4 Zornitza Stark Mode of inheritance for gene: HSD17B4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2441 HRAS Zornitza Stark Marked gene: HRAS as ready
Genetic Epilepsy v0.2441 HRAS Zornitza Stark Gene: hras has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2441 HRAS Zornitza Stark Phenotypes for gene: HRAS were changed from Costello syndrome, MIM# 218040 to Costello syndrome, MIM# 218040
Genetic Epilepsy v0.2440 HRAS Zornitza Stark Phenotypes for gene: HRAS were changed from to Costello syndrome, MIM# 218040
Genetic Epilepsy v0.2439 HRAS Zornitza Stark Publications for gene: HRAS were set to
Genetic Epilepsy v0.2438 HRAS Zornitza Stark Mode of pathogenicity for gene: HRAS was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Genetic Epilepsy v0.2437 HRAS Zornitza Stark Mode of inheritance for gene: HRAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2436 HMGCL Zornitza Stark Marked gene: HMGCL as ready
Genetic Epilepsy v0.2436 HMGCL Zornitza Stark Gene: hmgcl has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2436 HMGCL Zornitza Stark Phenotypes for gene: HMGCL were changed from to HMG-CoA lyase deficiency, MIM# 246450
Genetic Epilepsy v0.2435 HMGCL Zornitza Stark Publications for gene: HMGCL were set to
Genetic Epilepsy v0.2434 HMGCL Zornitza Stark Mode of inheritance for gene: HMGCL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2433 HLCS Zornitza Stark Marked gene: HLCS as ready
Genetic Epilepsy v0.2433 HLCS Zornitza Stark Gene: hlcs has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2433 HLCS Zornitza Stark Phenotypes for gene: HLCS were changed from to Holocarboxylase synthetase deficiency, MIM# 253270
Genetic Epilepsy v0.2432 HLCS Zornitza Stark Publications for gene: HLCS were set to
Genetic Epilepsy v0.2431 HLCS Zornitza Stark Mode of inheritance for gene: HLCS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2430 HEXB Zornitza Stark Marked gene: HEXB as ready
Genetic Epilepsy v0.2430 HEXB Zornitza Stark Gene: hexb has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2430 HEXB Zornitza Stark Phenotypes for gene: HEXB were changed from to Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800; MONDO:0010006
Genetic Epilepsy v0.2429 HEXB Zornitza Stark Mode of inheritance for gene: HEXB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2428 HEXA Zornitza Stark Marked gene: HEXA as ready
Genetic Epilepsy v0.2428 HEXA Zornitza Stark Gene: hexa has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2428 HEXA Zornitza Stark Phenotypes for gene: HEXA were changed from to GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800
Genetic Epilepsy v0.2427 HEXA Zornitza Stark Publications for gene: HEXA were set to
Genetic Epilepsy v0.2426 HEXA Zornitza Stark Mode of inheritance for gene: HEXA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2425 HEPACAM Zornitza Stark Marked gene: HEPACAM as ready
Genetic Epilepsy v0.2425 HEPACAM Zornitza Stark Gene: hepacam has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2425 HEPACAM Zornitza Stark Phenotypes for gene: HEPACAM were changed from to Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM# 613925; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, MIM# 613926
Genetic Epilepsy v0.2424 HEPACAM Zornitza Stark Publications for gene: HEPACAM were set to
Genetic Epilepsy v0.2423 HEPACAM Zornitza Stark Mode of inheritance for gene: HEPACAM was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genetic Epilepsy v0.2422 HAX1 Zornitza Stark Marked gene: HAX1 as ready
Genetic Epilepsy v0.2422 HAX1 Zornitza Stark Gene: hax1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2422 HAX1 Zornitza Stark Phenotypes for gene: HAX1 were changed from to Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738; Kostmann syndrome MONDO:0012548
Genetic Epilepsy v0.2421 HAX1 Zornitza Stark Publications for gene: HAX1 were set to
Genetic Epilepsy v0.2420 HAX1 Zornitza Stark Mode of inheritance for gene: HAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2419 GOSR2 Zornitza Stark Marked gene: GOSR2 as ready
Genetic Epilepsy v0.2419 GOSR2 Zornitza Stark Gene: gosr2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2419 GOSR2 Zornitza Stark Phenotypes for gene: GOSR2 were changed from to Epilepsy, progressive myoclonic 6 , MIM#614018
Genetic Epilepsy v0.2418 GOSR2 Zornitza Stark Publications for gene: GOSR2 were set to
Genetic Epilepsy v0.2417 GOSR2 Zornitza Stark Mode of inheritance for gene: GOSR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2416 GNAQ Zornitza Stark Marked gene: GNAQ as ready
Genetic Epilepsy v0.2416 GNAQ Zornitza Stark Gene: gnaq has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2416 GNAQ Zornitza Stark Phenotypes for gene: GNAQ were changed from to Sturge-Weber syndrome, somatic, mosaic 185300
Genetic Epilepsy v0.2415 GNAQ Zornitza Stark Publications for gene: GNAQ were set to
Genetic Epilepsy v0.2414 GNAQ Zornitza Stark Mode of pathogenicity for gene: GNAQ was changed from to Other
Genetic Epilepsy v0.2413 GNAQ Zornitza Stark Mode of inheritance for gene: GNAQ was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2412 GNAQ Zornitza Stark Tag somatic tag was added to gene: GNAQ.
Genetic Epilepsy v0.2412 GM2A Zornitza Stark Marked gene: GM2A as ready
Genetic Epilepsy v0.2412 GM2A Zornitza Stark Gene: gm2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2412 GM2A Zornitza Stark Phenotypes for gene: GM2A were changed from to GM2-gangliosidosis, AB variant MIM#272750
Genetic Epilepsy v0.2411 GM2A Zornitza Stark Publications for gene: GM2A were set to
Genetic Epilepsy v0.2410 GM2A Zornitza Stark Mode of inheritance for gene: GM2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2409 GLUL Zornitza Stark Marked gene: GLUL as ready
Genetic Epilepsy v0.2409 GLUL Zornitza Stark Gene: glul has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2409 GLUL Zornitza Stark Phenotypes for gene: GLUL were changed from to Glutamine deficiency, congenital MIM#610015
Genetic Epilepsy v0.2408 GLUL Zornitza Stark Publications for gene: GLUL were set to
Genetic Epilepsy v0.2407 GLUL Zornitza Stark Mode of inheritance for gene: GLUL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2406 GLUL Zornitza Stark reviewed gene: GLUL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutamine deficiency, congenital MIM#610015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2406 GLUD1 Zornitza Stark Marked gene: GLUD1 as ready
Genetic Epilepsy v0.2406 GLUD1 Zornitza Stark Gene: glud1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2406 GLUD1 Zornitza Stark Phenotypes for gene: GLUD1 were changed from to Hyperinsulinism-hyperammonemia syndrome, MIM# 606762
Genetic Epilepsy v0.2405 GLUD1 Zornitza Stark Publications for gene: GLUD1 were set to
Genetic Epilepsy v0.2404 GLUD1 Zornitza Stark Mode of inheritance for gene: GLUD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2403 GLUD1 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Hypoglycaemic seizures.
Genetic Epilepsy v0.2403 GLDC Zornitza Stark Marked gene: GLDC as ready
Genetic Epilepsy v0.2403 GLDC Zornitza Stark Gene: gldc has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2403 GLDC Zornitza Stark Phenotypes for gene: GLDC were changed from to Glycine encephalopathy (MIM#605899)
Genetic Epilepsy v0.2402 GLDC Zornitza Stark Publications for gene: GLDC were set to
Genetic Epilepsy v0.2401 GLDC Zornitza Stark Mode of inheritance for gene: GLDC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2400 GLB1 Zornitza Stark Marked gene: GLB1 as ready
Genetic Epilepsy v0.2400 GLB1 Zornitza Stark Gene: glb1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2400 GLB1 Zornitza Stark Phenotypes for gene: GLB1 were changed from to GM1-gangliosidosis, type I MIM#230500; GM1-gangliosidosis, type II MIM# 230600
Genetic Epilepsy v0.2399 GLB1 Zornitza Stark Publications for gene: GLB1 were set to
Genetic Epilepsy v0.2398 GLB1 Zornitza Stark Mode of inheritance for gene: GLB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2397 GFM1 Zornitza Stark Marked gene: GFM1 as ready
Genetic Epilepsy v0.2397 GFM1 Zornitza Stark Gene: gfm1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2397 GFM1 Zornitza Stark Phenotypes for gene: GFM1 were changed from to Combined oxidative phosphorylation deficiency 1 MIM#609060
Genetic Epilepsy v0.2396 GFM1 Zornitza Stark Publications for gene: GFM1 were set to
Genetic Epilepsy v0.2395 GFM1 Zornitza Stark Mode of inheritance for gene: GFM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2394 GFAP Zornitza Stark Marked gene: GFAP as ready
Genetic Epilepsy v0.2394 GFAP Zornitza Stark Gene: gfap has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2394 GFAP Zornitza Stark Phenotypes for gene: GFAP were changed from to Alexander disease, MIM# 203450
Genetic Epilepsy v0.2393 GFAP Zornitza Stark Publications for gene: GFAP were set to
Genetic Epilepsy v0.2392 GFAP Zornitza Stark Mode of inheritance for gene: GFAP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2391 GCH1 Zornitza Stark Marked gene: GCH1 as ready
Genetic Epilepsy v0.2391 GCH1 Zornitza Stark Gene: gch1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2391 GCH1 Zornitza Stark Phenotypes for gene: GCH1 were changed from to Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910
Genetic Epilepsy v0.2390 GCH1 Zornitza Stark Publications for gene: GCH1 were set to
Genetic Epilepsy v0.2389 GCH1 Zornitza Stark Mode of inheritance for gene: GCH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2388 GCH1 Zornitza Stark Deleted their comment
Genetic Epilepsy v0.2388 GCH1 Zornitza Stark edited their review of gene: GCH1: Added comment: Well established gene-disease association, seizures are part of the phenotype.; Changed publications: 7730309; Changed phenotypes: Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2388 GALC Zornitza Stark Marked gene: GALC as ready
Genetic Epilepsy v0.2388 GALC Zornitza Stark Gene: galc has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2388 GALC Zornitza Stark Phenotypes for gene: GALC were changed from to Krabbe disease, MIM# 245200; MONDO:0009499
Genetic Epilepsy v0.2387 GALC Zornitza Stark Publications for gene: GALC were set to
Genetic Epilepsy v0.2386 GALC Zornitza Stark Mode of inheritance for gene: GALC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2385 GALC Zornitza Stark changed review comment from: Krabbe disease is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, spasticity, and developmental delay. There is severe motor and mental deterioration, leading to decerebration and death by age 2 years. Approximately 10 to 15% of patients have a later onset, commonly differentiated as late-infantile (6 months to 3 years), juvenile (3 to 8 years), and even adult-onset forms. Multiple families reported.; to: Krabbe disease is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, spasticity, and developmental delay. There is severe motor and mental deterioration, leading to decerebration and death by age 2 years. Approximately 10 to 15% of patients have a later onset, commonly differentiated as late-infantile (6 months to 3 years), juvenile (3 to 8 years), and even adult-onset forms. Multiple families reported.

Seizures are part of the phenotype.
Genetic Epilepsy v0.2385 FUCA1 Zornitza Stark Marked gene: FUCA1 as ready
Genetic Epilepsy v0.2385 FUCA1 Zornitza Stark Gene: fuca1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2385 FUCA1 Zornitza Stark Phenotypes for gene: FUCA1 were changed from to Fucosidosis, MIM# 230000; MONDO:0009254
Genetic Epilepsy v0.2384 FUCA1 Zornitza Stark Publications for gene: FUCA1 were set to
Genetic Epilepsy v0.2383 FUCA1 Zornitza Stark Mode of inheritance for gene: FUCA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2382 FUCA1 Zornitza Stark changed review comment from: Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Clinical features include angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, and dysostosis multiplex. Well established gene-disease association, multiple families reported.; to: Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Clinical features include angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, and dysostosis multiplex. Well established gene-disease association, multiple families reported.

Seizures are part of the phenotype.
Genetic Epilepsy v0.2382 FRRS1L Zornitza Stark Marked gene: FRRS1L as ready
Genetic Epilepsy v0.2382 FRRS1L Zornitza Stark Gene: frrs1l has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2382 FRRS1L Zornitza Stark Phenotypes for gene: FRRS1L were changed from to Developmental and epileptic encephalopathy, 37 MONDO:0014859
Genetic Epilepsy v0.2381 FRRS1L Zornitza Stark Publications for gene: FRRS1L were set to
Genetic Epilepsy v0.2380 FRRS1L Zornitza Stark Mode of inheritance for gene: FRRS1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2379 DPM1 Zornitza Stark Marked gene: DPM1 as ready
Genetic Epilepsy v0.2379 DPM1 Zornitza Stark Gene: dpm1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2379 DPM1 Zornitza Stark Publications for gene: DPM1 were set to 23856421
Genetic Epilepsy v0.2378 DPM1 Zornitza Stark Phenotypes for gene: DPM1 were changed from to Congenital disorder of glycosylation, type Ie, 608799
Genetic Epilepsy v0.2377 DPM1 Zornitza Stark Publications for gene: DPM1 were set to
Genetic Epilepsy v0.2376 DPM1 Zornitza Stark Mode of inheritance for gene: DPM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2375 DPM1 Zornitza Stark reviewed gene: DPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ie, 608799; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2375 DNM1L Zornitza Stark Marked gene: DNM1L as ready
Genetic Epilepsy v0.2375 DNM1L Zornitza Stark Gene: dnm1l has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2375 DNM1L Zornitza Stark Phenotypes for gene: DNM1L were changed from Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 - MIM#614388 (AD, AR) to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 - MIM#614388 (AD, AR)
Genetic Epilepsy v0.2374 DNM1L Zornitza Stark Phenotypes for gene: DNM1L were changed from to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 - MIM#614388 (AD, AR)
Genetic Epilepsy v0.2374 DNM1L Zornitza Stark Mode of inheritance for gene: DNM1L was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.2373 DNM1L Zornitza Stark Mode of inheritance for gene: DNM1L was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.2372 FOXG1 Zornitza Stark Marked gene: FOXG1 as ready
Genetic Epilepsy v0.2372 FOXG1 Zornitza Stark Gene: foxg1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2372 FOXG1 Zornitza Stark Phenotypes for gene: FOXG1 were changed from to Rett syndrome, congenital variant, MIM# 613454
Genetic Epilepsy v0.2371 FOXG1 Zornitza Stark Publications for gene: FOXG1 were set to
Genetic Epilepsy v0.2370 FOXG1 Zornitza Stark Mode of inheritance for gene: FOXG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2369 FOXG1 Zornitza Stark reviewed gene: FOXG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Rett syndrome, congenital variant, MIM# 613454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2369 EXOSC3 Zornitza Stark Marked gene: EXOSC3 as ready
Genetic Epilepsy v0.2369 EXOSC3 Zornitza Stark Gene: exosc3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2369 EXOSC3 Zornitza Stark Phenotypes for gene: EXOSC3 were changed from to Pontocerebellar hypoplasia, type 1B, MIM# 614678
Genetic Epilepsy v0.2368 EXOSC3 Zornitza Stark Publications for gene: EXOSC3 were set to
Genetic Epilepsy v0.2367 EXOSC3 Zornitza Stark Mode of inheritance for gene: EXOSC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2366 EXOSC3 Zornitza Stark changed review comment from: Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement. PCH1B can be divided into mild, moderate, and severe subgroups that vary in age at onset, progression, clinical and neuroradiologic severity, and survival. Multiple families reported.; to: Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement. PCH1B can be divided into mild, moderate, and severe subgroups that vary in age at onset, progression, clinical and neuroradiologic severity, and survival. Multiple families reported.

Seizures are part of the phenotype.
Genetic Epilepsy v0.2366 EPM2A Zornitza Stark Marked gene: EPM2A as ready
Genetic Epilepsy v0.2366 EPM2A Zornitza Stark Gene: epm2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2366 EPM2A Zornitza Stark Phenotypes for gene: EPM2A were changed from Lafora disease MONDO:0009697 to Lafora disease MONDO:0009697
Genetic Epilepsy v0.2365 EPM2A Zornitza Stark Phenotypes for gene: EPM2A were changed from to Lafora disease MONDO:0009697
Genetic Epilepsy v0.2364 EPM2A Zornitza Stark Publications for gene: EPM2A were set to
Genetic Epilepsy v0.2363 EPM2A Zornitza Stark Mode of inheritance for gene: EPM2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2362 SLC32A1 Zornitza Stark Phenotypes for gene: SLC32A1 were changed from Genetic epilepsy with febrile seizures plus; Developmental and epileptic encephalopathy MONDO:0100062, SLC32A1-related to Generalized epilepsy with febrile seizures plus, type 12, MIM# 620755
Genetic Epilepsy v0.2361 SLC32A1 Zornitza Stark edited their review of gene: SLC32A1: Changed phenotypes: Generalized epilepsy with febrile seizures plus, type 12, MIM# 620755
Genetic Epilepsy v0.2361 DIAPH1 Zornitza Stark Marked gene: DIAPH1 as ready
Genetic Epilepsy v0.2361 DIAPH1 Zornitza Stark Gene: diaph1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2361 DIAPH1 Zornitza Stark Phenotypes for gene: DIAPH1 were changed from to Seizures, cortical blindness, microcephaly syndrome, MIM# 616632
Genetic Epilepsy v0.2360 DIAPH1 Zornitza Stark Publications for gene: DIAPH1 were set to
Genetic Epilepsy v0.2359 DIAPH1 Zornitza Stark Mode of inheritance for gene: DIAPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2358 DIAPH1 Zornitza Stark reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Seizures, cortical blindness, microcephaly syndrome, MIM# 616632; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2358 DHCR24 Zornitza Stark Marked gene: DHCR24 as ready
Genetic Epilepsy v0.2358 DHCR24 Zornitza Stark Gene: dhcr24 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2358 DHCR24 Zornitza Stark Phenotypes for gene: DHCR24 were changed from to Desmosterolosis, MIM# 602398
Genetic Epilepsy v0.2357 DHCR24 Zornitza Stark Publications for gene: DHCR24 were set to
Genetic Epilepsy v0.2356 DHCR24 Zornitza Stark Mode of inheritance for gene: DHCR24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2355 DHCR24 Zornitza Stark changed review comment from: Clinical features include multiple congenital anomalies, including contractures and brain anomalies; intellectual disability; and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells.

At least 10 unrelated families reported, mouse model.; to: Clinical features include multiple congenital anomalies, including contractures and brain anomalies; intellectual disability; and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells.

At least 10 unrelated families reported, mouse model. Seizures are a feature.
Genetic Epilepsy v0.2355 DDX3X Zornitza Stark Marked gene: DDX3X as ready
Genetic Epilepsy v0.2355 DDX3X Zornitza Stark Gene: ddx3x has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2355 DDX3X Zornitza Stark Phenotypes for gene: DDX3X were changed from to Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958
Genetic Epilepsy v0.2354 DDX3X Zornitza Stark Publications for gene: DDX3X were set to
Genetic Epilepsy v0.2353 DDX3X Zornitza Stark Mode of inheritance for gene: DDX3X was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.2352 DDX3X Zornitza Stark changed review comment from: Syndromic X-linked mental retardation of the Snijders Blok type (MRXSSB), which occurs predominantly in females, is characterised by mildly to severely impaired intellectual development with variable other features including brain abnormalities, microcephaly, hypotonia, movement disorder and/or spasticity, ventricular enlargement, hypoplasia, and behavioural problems. Affected girls have de novo heterozygous mutations consistent with X-linked dominant inheritance. No consistent dysmorphic facial phenotype and onset in infancy.

Multiple unrelated families reported.; to: Syndromic X-linked mental retardation of the Snijders Blok type (MRXSSB), which occurs predominantly in females, is characterised by mildly to severely impaired intellectual development with variable other features including brain abnormalities, microcephaly, hypotonia, movement disorder and/or spasticity, ventricular enlargement, hypoplasia, and behavioural problems. Affected girls have de novo heterozygous mutations consistent with X-linked dominant inheritance. No consistent dysmorphic facial phenotype and onset in infancy.

Multiple unrelated families reported. Seizures are a feature.
Genetic Epilepsy v0.2352 DCX Zornitza Stark Marked gene: DCX as ready
Genetic Epilepsy v0.2352 DCX Zornitza Stark Gene: dcx has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2352 DCX Zornitza Stark Phenotypes for gene: DCX were changed from to Lissencephaly, X-linked, MIM# 300067; Subcortical laminal heterotopia, X-linked 300067
Genetic Epilepsy v0.2351 DCX Zornitza Stark Publications for gene: DCX were set to
Genetic Epilepsy v0.2350 DCX Zornitza Stark Mode of inheritance for gene: DCX was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.2349 DCX Zornitza Stark changed review comment from: DCX mutations cause classic lissencephaly with mental retardation in hemizygous males and a milder phenotype known as subcortical band heterotopia in females, sometimes in the same family. The subcortical lamina heterotopia found in heterozygous females is also referred to as 'double cortex' (DC) syndrome. Multiple affected families reported.; to: DCX mutations cause classic lissencephaly with mental retardation in hemizygous males and a milder phenotype known as subcortical band heterotopia in females, sometimes in the same family. The subcortical lamina heterotopia found in heterozygous females is also referred to as 'double cortex' (DC) syndrome. Multiple affected families reported. Seizures are a feature of the condition.
Genetic Epilepsy v0.2349 D2HGDH Zornitza Stark Marked gene: D2HGDH as ready
Genetic Epilepsy v0.2349 D2HGDH Zornitza Stark Gene: d2hgdh has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2349 D2HGDH Zornitza Stark Phenotypes for gene: D2HGDH were changed from to D-2-hydroxyglutaric aciduria MIM#600721
Genetic Epilepsy v0.2348 D2HGDH Zornitza Stark Publications for gene: D2HGDH were set to
Genetic Epilepsy v0.2347 D2HGDH Zornitza Stark Mode of inheritance for gene: D2HGDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2346 D2HGDH Zornitza Stark changed review comment from: More than 3 families reported.; to: More than 3 families reported, early onset encephalopathy is a key feature.
Genetic Epilepsy v0.2346 CTSD Zornitza Stark Marked gene: CTSD as ready
Genetic Epilepsy v0.2346 CTSD Zornitza Stark Gene: ctsd has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2346 CTSD Zornitza Stark Phenotypes for gene: CTSD were changed from to Ceroid lipofuscinosis, neuronal, 10, MIM# 610127; MONDO:0012414
Genetic Epilepsy v0.2345 CTSD Zornitza Stark Publications for gene: CTSD were set to
Genetic Epilepsy v0.2344 CTSD Zornitza Stark Mode of inheritance for gene: CTSD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2343 CTSD Zornitza Stark changed review comment from: Neurodegenerative disorder though severe congenital forms also reported.; to: Neurodegenerative disorder though severe congenital forms also reported, seizures are a key feature.
Genetic Epilepsy v0.2343 COQ9 Zornitza Stark Marked gene: COQ9 as ready
Genetic Epilepsy v0.2343 COQ9 Zornitza Stark Gene: coq9 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2343 COQ9 Zornitza Stark Phenotypes for gene: COQ9 were changed from to Coenzyme Q10 deficiency, primary, 5, MIM#614654
Genetic Epilepsy v0.2342 COQ9 Zornitza Stark Publications for gene: COQ9 were set to
Genetic Epilepsy v0.2341 COQ9 Zornitza Stark Mode of inheritance for gene: COQ9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2340 COQ9 Zornitza Stark reviewed gene: COQ9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 5, MIM#614654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2340 COQ4 Zornitza Stark Marked gene: COQ4 as ready
Genetic Epilepsy v0.2340 COQ4 Zornitza Stark Gene: coq4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2340 COQ4 Zornitza Stark Phenotypes for gene: COQ4 were changed from to Coenzyme Q10 deficiency, primary, 7, MIM# 616276
Genetic Epilepsy v0.2339 COQ4 Zornitza Stark Publications for gene: COQ4 were set to
Genetic Epilepsy v0.2338 COQ4 Zornitza Stark Mode of inheritance for gene: COQ4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2337 COQ2 Zornitza Stark Marked gene: COQ2 as ready
Genetic Epilepsy v0.2337 COQ2 Zornitza Stark Gene: coq2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2337 COQ2 Zornitza Stark Phenotypes for gene: COQ2 were changed from to Coenzyme Q10 deficiency, primary, 1, MIM# 607426; MONDO:0011829
Genetic Epilepsy v0.2336 COQ2 Zornitza Stark Publications for gene: COQ2 were set to
Genetic Epilepsy v0.2335 COQ2 Zornitza Stark Mode of inheritance for gene: COQ2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2334 DIP2C Zornitza Stark Classified gene: DIP2C as Green List (high evidence)
Genetic Epilepsy v0.2334 DIP2C Zornitza Stark Gene: dip2c has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2333 DIP2C Zornitza Stark reviewed gene: DIP2C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder (MONDO#0700092), DIP2C-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2333 MMS19 Zornitza Stark Marked gene: MMS19 as ready
Genetic Epilepsy v0.2333 MMS19 Zornitza Stark Gene: mms19 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2333 MMS19 Zornitza Stark Phenotypes for gene: MMS19 were changed from Neuromuscular disease, MMS19-related (MONDO:0019056) to Neurodegenerative disease, MONDO:0005559, MMS19-related
Genetic Epilepsy v0.2332 MMS19 Zornitza Stark Classified gene: MMS19 as Red List (low evidence)
Genetic Epilepsy v0.2332 MMS19 Zornitza Stark Gene: mms19 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2331 NARS Zornitza Stark changed review comment from: AR disorder: assessed as LIMITED by ClinGen (borderline MODERATE).; to: Both MOIs assessed as MODERATE by ClinGen.
Genetic Epilepsy v0.2331 MMS19 Paul De Fazio gene: MMS19 was added
gene: MMS19 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MMS19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMS19 were set to 38411040
Phenotypes for gene: MMS19 were set to Neuromuscular disease, MMS19-related (MONDO:0019056)
Review for gene: MMS19 was set to RED
gene: MMS19 was marked as current diagnostic
Added comment: Single patient reported with postnatal microcephaly, bilateral cataracts, failure to thrive, progressive spastic tetraparesis, scoliosis, myoclonic epilepsy and precocious puberty. Cerebral MRI at age 4 years showed pontocerebellar atrophy and white matter abnormalities. Patient died age 13 after recurrent respiratory tract infections. A homozygous in-frame deletion p.(Glu213del) was identified. Cell line studies supported pathogenicity of the variant. A zebrafish knockout model showed Mms19 deficiency had detrimental effects on development.
Sources: Literature
Genetic Epilepsy v0.2331 DIP2C Elena Savva Marked gene: DIP2C as ready
Genetic Epilepsy v0.2331 DIP2C Elena Savva Gene: dip2c has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2331 DIP2C Elena Savva Classified gene: DIP2C as Amber List (moderate evidence)
Genetic Epilepsy v0.2331 DIP2C Elena Savva Gene: dip2c has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2330 DIP2C Melanie Marty reviewed gene: DIP2C: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 38421105; Phenotypes: Neurodevelopmental disorder (MONDO#0700092), DIP2C-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2330 DIP2C Melanie Marty Deleted their review
Genetic Epilepsy v0.2330 DIP2C Melanie Marty gene: DIP2C was added
gene: DIP2C was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: DIP2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DIP2C were set to PMID: 38421105
Phenotypes for gene: DIP2C were set to Neurodevelopmental disorder (MONDO#0700092), DIP2C-related
Review for gene: DIP2C was set to GREEN
Added comment: PMID: 38421105 - Twenty three patients with het DIP2C variants (10 de novo).
All patients had developmental delays affecting expressive language and speech, most had mild dev delay and ID. Four patients had seizures. Additional phenotypic findings were non-specific but recurrent anomalies did include a high anterior hair-line, prominent forehead, and a broad nasal tip. Four patients had cardiac defects (hypertrophic cardiomyopathy, atrial septal defects,and bicuspid aortic valve)
Sources: Literature
Genetic Epilepsy v0.2330 SNF8 Elena Savva Classified gene: SNF8 as Amber List (moderate evidence)
Genetic Epilepsy v0.2330 SNF8 Elena Savva Gene: snf8 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2329 SNF8 Elena Savva Classified gene: SNF8 as Amber List (moderate evidence)
Genetic Epilepsy v0.2329 SNF8 Elena Savva Gene: snf8 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2329 SNF8 Elena Savva Classified gene: SNF8 as Amber List (moderate evidence)
Genetic Epilepsy v0.2329 SNF8 Elena Savva Gene: snf8 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2328 SNF8 Elena Savva Marked gene: SNF8 as ready
Genetic Epilepsy v0.2328 SNF8 Elena Savva Gene: snf8 has been removed from the panel.
Genetic Epilepsy v0.2328 SNF8 Chern Lim gene: SNF8 was added
gene: SNF8 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SNF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNF8 were set to 38423010
Phenotypes for gene: SNF8 were set to Neurodevelopmental disorder (MONDO:0700092), SNF8-related
Review for gene: SNF8 was set to AMBER
gene: SNF8 was marked as current diagnostic
Added comment: PMID: 38423010
- Nine individuals from six families presenting with a spectrum of neurodevelopmental/neurodegenerative features caused by bi-allelic variants in SNF8. In total, three putative LoF variants and four missense variants were identified.
- The phenotypic spectrum included four individuals with severe developmental and epileptic encephalopathy, massive reduction of white matter, hypo-/aplasia of the corpus callosum, neurodevelopmental arrest, and early death. A second cohort shows a milder phenotype with intellectual disability, childhood-onset optic atrophy, or ataxia. All mildly affected individuals shared the same hypomorphic variant, c.304G>A (p.Val102Ile) as compound heterozygous.
- Two of the patients also had seizures.

- Functional studies using fibroblasts derived from patients and zebrafish model showed LoF is the disease mech.
Sources: Literature
Genetic Epilepsy v0.2328 NARS Zornitza Stark commented on gene: NARS: AR disorder: assessed as LIMITED by ClinGen (borderline MODERATE).
Genetic Epilepsy v0.2328 PI4K2A Zornitza Stark Phenotypes for gene: PI4K2A were changed from complex neurodevelopmental disorder with motor features, PI4K2A-related, MONDO:0100516 to Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, MIM# 620732
Genetic Epilepsy v0.2327 ALDH3A2 Zornitza Stark Mode of inheritance for gene: ALDH3A2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2326 TSEN34 Zornitza Stark Marked gene: TSEN34 as ready
Genetic Epilepsy v0.2326 TSEN34 Zornitza Stark Added comment: Comment when marking as ready: No publications specifically reporting seizures identified.
Genetic Epilepsy v0.2326 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2326 TSEN34 Zornitza Stark Marked gene: TSEN34 as ready
Genetic Epilepsy v0.2326 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2326 WDFY3 Zornitza Stark Phenotypes for gene: WDFY3 were changed from ?Microcephaly 18, primary, autosomal dominant MIM#617520 to Microcephaly 18, primary, autosomal dominant MIM#617520
Genetic Epilepsy v0.2325 YEATS2 Zornitza Stark Tag STR tag was added to gene: YEATS2.
Genetic Epilepsy v0.2325 ZMIZ1 Zornitza Stark Classified gene: ZMIZ1 as Amber List (moderate evidence)
Genetic Epilepsy v0.2325 ZMIZ1 Zornitza Stark Gene: zmiz1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2324 ZMIZ1 Zornitza Stark reviewed gene: ZMIZ1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies MIM#618659; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2324 ZSWIM6 Elena Savva Marked gene: ZSWIM6 as ready
Genetic Epilepsy v0.2324 ZSWIM6 Elena Savva Gene: zswim6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2324 ZSWIM6 Elena Savva Classified gene: ZSWIM6 as Green List (high evidence)
Genetic Epilepsy v0.2324 ZSWIM6 Elena Savva Gene: zswim6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2323 ZSWIM6 Elena Savva gene: ZSWIM6 was added
gene: ZSWIM6 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZSWIM6 were set to PMID: 29198722; 33958584
Phenotypes for gene: ZSWIM6 were set to Acromelic frontonasal dysostosis MIM#603671; Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features MIM#617865
Review for gene: ZSWIM6 was set to GREEN
Added comment: Seizures listed in OMIM as a feature of both conditions.

PMID: 29198722 - seven unrelated individuals with a recurrent de novo nonsense variant p.Arg913* in the penultimate exon. 4/7 confirmed to have seizures or possible seizures.

PMID: 33958584 - Japanese male patient with severe neurodevelopmental delay, epilepsy, distinctive facial features, microcephaly, growth deficiency, abnormal behavior, and frequent vomiting but without frontonasal or limb malformations. Proband had the same de novo p.Arg913* variant
Sources: Literature
Genetic Epilepsy v0.2322 ZMIZ1 Elena Savva Marked gene: ZMIZ1 as ready
Genetic Epilepsy v0.2322 ZMIZ1 Elena Savva Gene: zmiz1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2322 ZMIZ1 Elena Savva gene: ZMIZ1 was added
gene: ZMIZ1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZMIZ1 were set to PMID: 30639322
Phenotypes for gene: ZMIZ1 were set to Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies MIM#618659
Review for gene: ZMIZ1 was set to RED
Added comment: Seizures (rare) listed in OMIM

PMID: 30639322 - gene-disease establishing paper. Cohort of 19 probands (16 unrelated), where 3 were reported with seizures.
Sources: Literature
Genetic Epilepsy v0.2321 ZIC2 Elena Savva Marked gene: ZIC2 as ready
Genetic Epilepsy v0.2321 ZIC2 Elena Savva Gene: zic2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2321 ZIC2 Elena Savva gene: ZIC2 was added
gene: ZIC2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZIC2 were set to Holoprosencephaly 5 MIM#609637
Review for gene: ZIC2 was set to RED
Added comment: No evidence of SNVs in this gene causing epilepsy/seizures.

This gene was listed in the Oliver list.
Sources: Literature
Genetic Epilepsy v0.2320 YEATS2 Elena Savva Marked gene: YEATS2 as ready
Genetic Epilepsy v0.2320 YEATS2 Elena Savva Gene: yeats2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2320 YEATS2 Elena Savva gene: YEATS2 was added
gene: YEATS2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: YEATS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: YEATS2 were set to PMID: 22713812; 31539032
Phenotypes for gene: YEATS2 were set to ?Epilepsy, myoclonic, familial adult, 4 MIM#615127
Review for gene: YEATS2 was set to RED
Added comment: PMID: 22713812 - 13 members of a single family with Benign Adult Familial Myoclonic Epilepsy (BAFME). The average age of onset was 19.5 (range 10–33) years for tremor and 25 (range 19–33) years for seizures.
PMID: 31539032 - Expansions of TTTTA and insertions of TTTCA repeats in intron 1 of YEATS2 segregated in the same family ^.
Sources: Literature
Genetic Epilepsy v0.2319 XPR1 Elena Savva Marked gene: XPR1 as ready
Genetic Epilepsy v0.2319 XPR1 Elena Savva Gene: xpr1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2319 XPR1 Elena Savva Classified gene: XPR1 as Amber List (moderate evidence)
Genetic Epilepsy v0.2319 XPR1 Elena Savva Gene: xpr1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2318 XPR1 Elena Savva gene: XPR1 was added
gene: XPR1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: XPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: XPR1 were set to PMID: 33433330
Phenotypes for gene: XPR1 were set to Basal ganglia calcification, idiopathic, 6 MIM#616413
Review for gene: XPR1 was set to AMBER
Added comment: Seizures (in some patients) listed in OMIM

PMID: 33433330
- chet proband (PTC, missense) with paroxysmal kinesigenic dyskinesia with infantile convulsions, and generalized tonic-clonic seizures (GTCS) at the age of 2 years. Both parents were unaffected.
- Only missense in AD disease had been reported.
- Reviews literature, notes seizures 2/12 unrelated individuals, where an additional proband was ?seizures?
Sources: Literature
Genetic Epilepsy v0.2317 WDFY3 Elena Savva Marked gene: WDFY3 as ready
Genetic Epilepsy v0.2317 WDFY3 Elena Savva Gene: wdfy3 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2317 WDFY3 Elena Savva gene: WDFY3 was added
gene: WDFY3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: WDFY3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WDFY3 were set to PMID: 31327001
Phenotypes for gene: WDFY3 were set to ?Microcephaly 18, primary, autosomal dominant MIM#617520
Review for gene: WDFY3 was set to RED
Added comment: PMID: 31327001 - cohort of 13 probands and mouse model, NONE had reported to have epilepsy/seizures.

Gene was listed as part of the Oliver review for genes associated with epilepsy
Sources: Literature
Genetic Epilepsy v0.2316 WASHC4 Elena Savva Marked gene: WASHC4 as ready
Genetic Epilepsy v0.2316 WASHC4 Elena Savva Gene: washc4 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2316 WASHC4 Elena Savva gene: WASHC4 was added
gene: WASHC4 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: WASHC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WASHC4 were set to PMID: 34599609
Phenotypes for gene: WASHC4 were set to Intellectual developmental disorder, autosomal recessive 43 MIM#615817
Review for gene: WASHC4 was set to RED
Added comment: PMID: 34599609 - two siblings, only 1 sibling presented with epilepsy with generalized tonic–clonic seizures and received oxcarbazepine (seizure-free on therapy). They were homozygous for a missense, some functional studies supporting pathogenicity.
Review of previous reports did NOT describe any other reports of seizures.
Sources: Literature
Genetic Epilepsy v0.2315 WAC Elena Savva Marked gene: WAC as ready
Genetic Epilepsy v0.2315 WAC Elena Savva Gene: wac has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2315 WAC Elena Savva Classified gene: WAC as Green List (high evidence)
Genetic Epilepsy v0.2315 WAC Elena Savva Gene: wac has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2314 WAC Elena Savva gene: WAC was added
gene: WAC was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: WAC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WAC were set to PMID: 36420948
Phenotypes for gene: WAC were set to Desanto-Shinawi syndrome MIM#616708
Review for gene: WAC was set to GREEN
Added comment: Seizures (in some patients) listed in OMIM

PMID: 36420948 - reviews literature, describes seizures in 10/33 probands
Sources: Literature
Genetic Epilepsy v0.2313 UGGT1 Elena Savva Marked gene: UGGT1 as ready
Genetic Epilepsy v0.2313 UGGT1 Elena Savva Gene: uggt1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2313 UGGT1 Elena Savva gene: UGGT1 was added
gene: UGGT1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: UGGT1 was set to Unknown
Review for gene: UGGT1 was set to RED
Added comment: Gene was on the Oliver list for epilepsy genes.

No gene-disease association paper has been published.

GnomAD NOT constrained for LOF variants.
Sources: Literature
Genetic Epilepsy v0.2312 UBTF Elena Savva Classified gene: UBTF as Amber List (moderate evidence)
Genetic Epilepsy v0.2312 UBTF Elena Savva Gene: ubtf has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2312 UBTF Elena Savva Classified gene: UBTF as Amber List (moderate evidence)
Genetic Epilepsy v0.2312 UBTF Elena Savva Gene: ubtf has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2311 UBTF Elena Savva Marked gene: UBTF as ready
Genetic Epilepsy v0.2311 UBTF Elena Savva Gene: ubtf has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2311 UBTF Elena Savva gene: UBTF was added
gene: UBTF was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: UBTF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UBTF were set to PMID: 30517966
Phenotypes for gene: UBTF were set to Neurodegeneration, childhood-onset, with brain atrophy MIM#617672
Review for gene: UBTF was set to AMBER
Added comment: PMID: 30517966 - recurring de novo missense p.Glu210Lys, observed in 11 probands with neurodegeneration. 3/11 had seizures. Paper had an additional proband with this variant and drug-resistant epilepsy.
Sources: Literature
Genetic Epilepsy v0.2310 PUM1 Zornitza Stark Phenotypes for gene: PUM1 were changed from Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM# 620719; Spinocerebellar ataxia 47, MIM# 617931 to Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM# 620719
Genetic Epilepsy v0.2309 PUM1 Zornitza Stark Phenotypes for gene: PUM1 were changed from intellectual disability; epilepsy; Spinocerebellar ataxia 47, MIM# 617931 to Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM# 620719; Spinocerebellar ataxia 47, MIM# 617931
Genetic Epilepsy v0.2308 PUM1 Zornitza Stark edited their review of gene: PUM1: Changed phenotypes: Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM# 620719
Genetic Epilepsy v0.2308 TWNK Elena Savva Classified gene: TWNK as Green List (high evidence)
Genetic Epilepsy v0.2308 TWNK Elena Savva Gene: twnk has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2307 TWNK Elena Savva Marked gene: TWNK as ready
Genetic Epilepsy v0.2307 TWNK Elena Savva Gene: twnk has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2307 TWNK Elena Savva gene: TWNK was added
gene: TWNK was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TWNK were set to PMID: 19304794
Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) MIM#271245; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286
Review for gene: TWNK was set to GREEN
Added comment: PMID: 19304794 - reviews, notes epilepsia partialis continua occurred in 15 patients leading to generalized epileptic statuses in 13/15. Probands had biallelic variants

OMIM lists Seizures (uncommon) as a phenotype for AD disease
Sources: Literature
Genetic Epilepsy v0.2306 TSEN34 Elena Savva gene: TSEN34 was added
gene: TSEN34 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN34 were set to Pontocerebellar hypoplasia type 2C, MIM#612390
Review for gene: TSEN34 was set to RED
Added comment: Gene was part of the Oliver list, no new publications
Sources: Literature
Genetic Epilepsy v0.2305 TSEN15 Elena Savva Marked gene: TSEN15 as ready
Genetic Epilepsy v0.2305 TSEN15 Elena Savva Gene: tsen15 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2305 TSEN15 Elena Savva Classified gene: TSEN15 as Amber List (moderate evidence)
Genetic Epilepsy v0.2305 TSEN15 Elena Savva Gene: tsen15 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2304 TSEN15 Elena Savva gene: TSEN15 was added
gene: TSEN15 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TSEN15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSEN15 were set to PMID: 27392077
Phenotypes for gene: TSEN15 were set to Pontocerebellar hypoplasia, type 2F MIM#617026
Review for gene: TSEN15 was set to AMBER
Added comment: Few patients reported with disease for this gene

PMID: 27392077 - 2/4 probands had seizures, onset <1 year old. Probands had homozygous missense, none had homs in v4 gnomAD. Functional studies support missense pathogenicity.
Sources: Literature
Genetic Epilepsy v0.2303 TRMT1 Elena Savva Classified gene: TRMT1 as Green List (high evidence)
Genetic Epilepsy v0.2303 TRMT1 Elena Savva Gene: trmt1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2302 TRMT1 Elena Savva Classified gene: TRMT1 as Green List (high evidence)
Genetic Epilepsy v0.2302 TRMT1 Elena Savva Gene: trmt1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2301 TRMT1 Elena Savva Marked gene: TRMT1 as ready
Genetic Epilepsy v0.2301 TRMT1 Elena Savva Gene: trmt1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2301 TRMT1 Elena Savva gene: TRMT1 was added
gene: TRMT1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TRMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT1 were set to PMID: 31898845; 26308914; 30289604
Phenotypes for gene: TRMT1 were set to Intellectual developmental disorder, autosomal recessive 68 MIM#618302
Review for gene: TRMT1 was set to GREEN
Added comment: Rarely reported gene

Seizures (in some patients) described in OMIM.

PMID: 31898845 - homozygous missense in a proband with developmental delay, ID, and epilepsy. Functional studies support pathogenicity of the missense.

PMID: 26308914 - family with a homozygous PTC. The patients did not manifest any other neurological problems, ie. NO seizures.

PMID: 30289604 - two families (total 4 affected) with hom PTC and canonical splice. All had seizures.
Sources: Literature
Genetic Epilepsy v0.2300 TRIT1 Elena Savva Marked gene: TRIT1 as ready
Genetic Epilepsy v0.2300 TRIT1 Elena Savva Gene: trit1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2300 TRIT1 Elena Savva Classified gene: TRIT1 as Green List (high evidence)
Genetic Epilepsy v0.2300 TRIT1 Elena Savva Gene: trit1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2299 TRIT1 Elena Savva gene: TRIT1 was added
gene: TRIT1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TRIT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIT1 were set to PMID: 36047296; 36049610
Phenotypes for gene: TRIT1 were set to Combined oxidative phosphorylation deficiency 35 MIM#617873
Review for gene: TRIT1 was set to GREEN
Added comment: PMID: 36047296 - two probands with tonic–clonic seizures, as well as myoclonic seizures in patient 1. Both probands had chet PTC/missense.

PMID: 36049610 - two probands with seizures. Both probands had chet PTC/missense. Reviews, seizures reported in 100% (20/20) patients, including myoclonic epilepsy and febrile convulsions
Sources: Literature
Genetic Epilepsy v0.2298 TRIP12 Elena Savva Marked gene: TRIP12 as ready
Genetic Epilepsy v0.2298 TRIP12 Elena Savva Gene: trip12 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2298 TRIP12 Elena Savva Classified gene: TRIP12 as Amber List (moderate evidence)
Genetic Epilepsy v0.2298 TRIP12 Elena Savva Gene: trip12 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2297 TRIP12 Elena Savva gene: TRIP12 was added
gene: TRIP12 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TRIP12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRIP12 were set to PMID: 36275919; 32424948
Phenotypes for gene: TRIP12 were set to Intellectual developmental disorder, autosomal dominant 49 MIM#617752
Review for gene: TRIP12 was set to AMBER
Added comment: Seizures described as a rare feature in OMIM

PMID: 36275919 - patient with GDD, hypotonia and intermittent seizures. De novo synonymous variant with proven splice outcome found.

PMID: 32424948 - reviews, epilepsy observed in 21% (5/24) patients
Sources: Literature
Genetic Epilepsy v0.2296 TRIO Elena Savva Classified gene: TRIO as Green List (high evidence)
Genetic Epilepsy v0.2296 TRIO Elena Savva Gene: trio has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2295 TRIO Elena Savva Marked gene: TRIO as ready
Genetic Epilepsy v0.2295 TRIO Elena Savva Gene: trio has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2295 TRIO Elena Savva gene: TRIO was added
gene: TRIO was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TRIO was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TRIO were set to Intellectual developmental disorder, autosomal dominant 44, with microcephaly MIM#617061; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly MIM#618825
Review for gene: TRIO was set to GREEN
Added comment: Seizures described in OMIM as a rare feature of both AR and AD disease

GeneReviews: seizures described in 7/19 probands with GOF variants, and 7/29 in individuals with LOF variants. Only one in ten individuals with a TRIO missense variant in the GEFD1 domain had seizures
Sources: Literature
Genetic Epilepsy v0.2294 TREM2 Elena Savva Classified gene: TREM2 as Green List (high evidence)
Genetic Epilepsy v0.2294 TREM2 Elena Savva Gene: trem2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2294 TREM2 Elena Savva Classified gene: TREM2 as Green List (high evidence)
Genetic Epilepsy v0.2294 TREM2 Elena Savva Gene: trem2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2293 TREM2 Elena Savva Marked gene: TREM2 as ready
Genetic Epilepsy v0.2293 TREM2 Elena Savva Gene: trem2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2293 TREM2 Elena Savva gene: TREM2 was added
gene: TREM2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TREM2 were set to PMID: 36820836; 24910390
Phenotypes for gene: TREM2 were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 MIM#618193
Review for gene: TREM2 was set to GREEN
Added comment: PMID: 36820836 - adult with repetitive seizures with a homozygous missense variant. Sibling also affected. No functional studies.

PMID: 24910390 - two siblings with a hom missense, no seizures reported. Summary of literature notes epilepsy in 75% of probands.

Seizures listed in OMIM
Sources: Literature
Genetic Epilepsy v0.2292 TPK1 Elena Savva Marked gene: TPK1 as ready
Genetic Epilepsy v0.2292 TPK1 Elena Savva Gene: tpk1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2292 TPK1 Elena Savva Classified gene: TPK1 as Green List (high evidence)
Genetic Epilepsy v0.2292 TPK1 Elena Savva Gene: tpk1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2291 TPK1 Elena Savva gene: TPK1 was added
gene: TPK1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TPK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPK1 were set to PMID: 37622082
Phenotypes for gene: TPK1 were set to Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) MIM#614458
Review for gene: TPK1 was set to GREEN
Added comment: PMID: 37622082
- proband 1 had a single convulsive seizure after fever, rashes. Diagnosed with leigh syndrome. Was chet for a PTC and missense.
- proband 2 had frequent tonic seizures, Was chet for a PTC and missense.
Review of literature found seizure (10/28, 35.71%) of reported cases
Sources: Literature
Genetic Epilepsy v0.2290 TNRC6A Zornitza Stark Marked gene: TNRC6A as ready
Genetic Epilepsy v0.2290 TNRC6A Zornitza Stark Gene: tnrc6a has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2290 TNRC6A Zornitza Stark Phenotypes for gene: TNRC6A were changed from ?Epilepsy, familial adult myoclonic, 6 MIM#618074 to Epilepsy, familial adult myoclonic, 6 MIM#618074
Genetic Epilepsy v0.2289 TNRC6A Elena Savva gene: TNRC6A was added
gene: TNRC6A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TNRC6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TNRC6A were set to PMID: 29507423; 33040085
Phenotypes for gene: TNRC6A were set to ?Epilepsy, familial adult myoclonic, 6 MIM#618074
Review for gene: TNRC6A was set to RED
Added comment: PMID: 29507423;33040085 - intronic expansion in a cohort with familial myoclonic epilepsy, also observed in controls but enriched in the affect cohort.

Gene was listed in the Oliver list
Sources: Literature
Genetic Epilepsy v0.2289 TNRC6A Elena Savva gene: TNRC6A was added
gene: TNRC6A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TNRC6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TNRC6A were set to PMID: 29507423; 33040085
Phenotypes for gene: TNRC6A were set to ?Epilepsy, familial adult myoclonic, 6 MIM#618074
Review for gene: TNRC6A was set to RED
Added comment: PMID: 29507423;33040085 - intronic expansion in a cohort with familial myoclonic epilepsy, also observed in controls but enriched in the affect cohort.

Gene was listed in the Oliver list
Sources: Literature
Genetic Epilepsy v0.2288 TLK2 Elena Savva Marked gene: TLK2 as ready
Genetic Epilepsy v0.2288 TLK2 Elena Savva Gene: tlk2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2288 TLK2 Elena Savva Classified gene: TLK2 as Amber List (moderate evidence)
Genetic Epilepsy v0.2288 TLK2 Elena Savva Gene: tlk2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2287 TLK2 Elena Savva gene: TLK2 was added
gene: TLK2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TLK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TLK2 were set to 37662408; 31558842
Phenotypes for gene: TLK2 were set to Intellectual developmental disorder, autosomal dominant 57 MIM#618050
Review for gene: TLK2 was set to AMBER
Added comment: Seizures (13%) in OMIM

PMID: 37662408 - NOT PEER REVIEWED. Patient presenting with ID, seizures, global developmental delay, hypothyroidism, and primary immunodeficiency. De novo missense found, but also another de novo PTC in MDM1. Functional studies support missense pathogenicity

PMID: 31558842 - HOM missense patient with a severe neurodev disorder, parents are clinically unaffected. She presented with epileptic spasms at the age of 6 months. Her EEG showed hypsarrhythmia suggesting West syndrome. She has been seizure-free since 3 years of age.
Sources: Literature
Genetic Epilepsy v0.2286 FLNA Zornitza Stark Marked gene: FLNA as ready
Genetic Epilepsy v0.2286 FLNA Zornitza Stark Gene: flna has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2286 FLNA Zornitza Stark Phenotypes for gene: FLNA were changed from to Heterotopia, periventricular, 1, MIM# 300049
Genetic Epilepsy v0.2285 FLNA Zornitza Stark Publications for gene: FLNA were set to
Genetic Epilepsy v0.2284 FLNA Zornitza Stark Mode of inheritance for gene: FLNA was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.2283 FKTN Zornitza Stark Marked gene: FKTN as ready
Genetic Epilepsy v0.2283 FKTN Zornitza Stark Gene: fktn has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2283 FKTN Zornitza Stark Phenotypes for gene: FKTN were changed from to Muscular dystrophy-dystroglycanopathy MONDO:0018276
Genetic Epilepsy v0.2282 FKTN Zornitza Stark Publications for gene: FKTN were set to
Genetic Epilepsy v0.2281 FKTN Zornitza Stark Mode of inheritance for gene: FKTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2280 FKTN Zornitza Stark reviewed gene: FKTN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy MONDO:0018276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2280 FBXL4 Zornitza Stark Marked gene: FBXL4 as ready
Genetic Epilepsy v0.2280 FBXL4 Zornitza Stark Gene: fbxl4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2280 FBXL4 Zornitza Stark Phenotypes for gene: FBXL4 were changed from to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471
Genetic Epilepsy v0.2279 FBXL4 Zornitza Stark Publications for gene: FBXL4 were set to
Genetic Epilepsy v0.2278 FBXL4 Zornitza Stark Mode of inheritance for gene: FBXL4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2277 FBXL4 Zornitza Stark reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2277 FARS2 Zornitza Stark Marked gene: FARS2 as ready
Genetic Epilepsy v0.2277 FARS2 Zornitza Stark Gene: fars2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2277 FARS2 Zornitza Stark Phenotypes for gene: FARS2 were changed from to combined oxidative phosphorylation defect type 14 MONDO:0013986
Genetic Epilepsy v0.2276 FARS2 Zornitza Stark Publications for gene: FARS2 were set to
Genetic Epilepsy v0.2275 FARS2 Zornitza Stark Mode of inheritance for gene: FARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2274 TET3 Zornitza Stark Marked gene: TET3 as ready
Genetic Epilepsy v0.2274 TET3 Zornitza Stark Gene: tet3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2274 TET3 Zornitza Stark Classified gene: TET3 as Green List (high evidence)
Genetic Epilepsy v0.2274 TET3 Zornitza Stark Gene: tet3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2273 TET3 Zornitza Stark reviewed gene: TET3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Beck-Fahrner syndrome MIM#618798; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.2273 TK2 Elena Savva Marked gene: TK2 as ready
Genetic Epilepsy v0.2273 TK2 Elena Savva Gene: tk2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2273 TK2 Elena Savva Classified gene: TK2 as Green List (high evidence)
Genetic Epilepsy v0.2273 TK2 Elena Savva Gene: tk2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2272 TK2 Elena Savva gene: TK2 was added
gene: TK2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TK2 were set to 25446393; 16504786
Phenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM#609560; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, MIM# 617069
Review for gene: TK2 was set to GREEN
Added comment: GeneReviews: Seizures 11/34 (32%) in infantile onset cases

PMID: 25446393 - two siblings with chet missense, presenting with early onset myopathy with profound loss of muscle mass, axonal neuropathy, respiratory failure as well as severe brain atrophy with status epilepticus.

PMID: 16504786 - five children in two families reported with infantile encephalomyopathy with biallelic missense. Generalised seizures described in 2/3 siblings from one family
Sources: Literature
Genetic Epilepsy v0.2271 THOC2 Elena Savva Marked gene: THOC2 as ready
Genetic Epilepsy v0.2271 THOC2 Elena Savva Gene: thoc2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2271 THOC2 Elena Savva Classified gene: THOC2 as Amber List (moderate evidence)
Genetic Epilepsy v0.2271 THOC2 Elena Savva Gene: thoc2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2270 THOC2 Elena Savva gene: THOC2 was added
gene: THOC2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: THOC2 were set to PMID: 26166480; 29851191
Phenotypes for gene: THOC2 were set to Intellectual developmental disorder, X-linked 12 MIM#300957
Review for gene: THOC2 was set to AMBER
Added comment: Seizures (in some patients) described in OMIM

PMID: 26166480 - gene-disease establishing paper, epilepsy described in 5/20 individuals where affected individuals were from three families. Only missense reported but all segregated well in families and had backing functional studies.

PMID: 29851191 - overlapping authors with ^, expanded cohort. Only 1/7 probands had epilepsy with an additional proband "suspected"
Sources: Literature
Genetic Epilepsy v0.2269 TGIF1 Elena Savva Marked gene: TGIF1 as ready
Genetic Epilepsy v0.2269 TGIF1 Elena Savva Gene: tgif1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2269 TGIF1 Elena Savva gene: TGIF1 was added
gene: TGIF1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TGIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGIF1 were set to Holoprosencephaly 4 MIM#142946
Review for gene: TGIF1 was set to RED
Added comment: Gene was listed in the Oliver list
Sources: Literature
Genetic Epilepsy v0.2268 TET3 Elena Savva gene: TET3 was added
gene: TET3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TET3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TET3 were set to 36192301
Phenotypes for gene: TET3 were set to Beck-Fahrner syndrome MIM#618798
Review for gene: TET3 was set to AMBER
Added comment: Seizures (in some patients) noted in OMIM

GeneReviews: seizure disorder described in 9/24 patients

PMID: 36192301 - de novo PTC, generalized tonic-clonic seizures began at 5yo

Difficulty finding additional literature stating patient phenotypes
Sources: Literature
Genetic Epilepsy v0.2267 TBC1D7 Elena Savva Marked gene: TBC1D7 as ready
Genetic Epilepsy v0.2267 TBC1D7 Elena Savva Gene: tbc1d7 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2267 TBC1D7 Elena Savva gene: TBC1D7 was added
gene: TBC1D7 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TBC1D7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D7 were set to 23687350; 24515783
Phenotypes for gene: TBC1D7 were set to Macrocephaly/megalencephaly syndrome, autosomal recessive MIM#248000
Review for gene: TBC1D7 was set to RED
Added comment: PMID: 23687350 - There is no history of seizures in two siblings, but EEG recording showed some epileptic activity in the right temporal lobe

PMID: 24515783 - There is no history of seizures; EEG and brain SPECT were normal.

Gene was listed in the Oliver list
Sources: Literature
Genetic Epilepsy v0.2266 EIF2B4 Zornitza Stark Marked gene: EIF2B4 as ready
Genetic Epilepsy v0.2266 EIF2B4 Zornitza Stark Added comment: Comment when marking as ready: Seizures are a feature.
Genetic Epilepsy v0.2266 EIF2B4 Zornitza Stark Gene: eif2b4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2266 EIF2B4 Zornitza Stark Phenotypes for gene: EIF2B4 were changed from to leukoencephalopathy with vanishing white matter MONDO:0011380
Genetic Epilepsy v0.2265 EIF2B4 Zornitza Stark Publications for gene: EIF2B4 were set to
Genetic Epilepsy v0.2264 EIF2B4 Zornitza Stark Mode of inheritance for gene: EIF2B4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2263 EIF2B3 Zornitza Stark Marked gene: EIF2B3 as ready
Genetic Epilepsy v0.2263 EIF2B3 Zornitza Stark Gene: eif2b3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2263 EIF2B3 Zornitza Stark Phenotypes for gene: EIF2B3 were changed from to leukoencephalopathy with vanishing white matter MONDO:0011380
Genetic Epilepsy v0.2262 EIF2B3 Zornitza Stark Publications for gene: EIF2B3 were set to
Genetic Epilepsy v0.2261 EIF2B3 Zornitza Stark Mode of inheritance for gene: EIF2B3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2260 EIF2B2 Zornitza Stark Marked gene: EIF2B2 as ready
Genetic Epilepsy v0.2260 EIF2B2 Zornitza Stark Gene: eif2b2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2260 EIF2B2 Zornitza Stark Phenotypes for gene: EIF2B2 were changed from to Leukoencephalopathy with vanishing white matter, MIM#603896; Ovarioleukodystrophy, MIM# 603896
Genetic Epilepsy v0.2259 EIF2B2 Zornitza Stark Publications for gene: EIF2B2 were set to
Genetic Epilepsy v0.2258 EIF2B2 Zornitza Stark Mode of inheritance for gene: EIF2B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2257 EIF2B1 Zornitza Stark Marked gene: EIF2B1 as ready
Genetic Epilepsy v0.2257 EIF2B1 Zornitza Stark Gene: eif2b1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2257 EIF2B1 Zornitza Stark Phenotypes for gene: EIF2B1 were changed from to Leukoencephalopathy with vanishing white matter MIM#603896; Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related
Genetic Epilepsy v0.2256 EIF2B1 Zornitza Stark Publications for gene: EIF2B1 were set to
Genetic Epilepsy v0.2255 EIF2B1 Zornitza Stark Mode of inheritance for gene: EIF2B1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.2254 POMK Zornitza Stark Marked gene: POMK as ready
Genetic Epilepsy v0.2254 POMK Zornitza Stark Gene: pomk has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2254 POMK Zornitza Stark Classified gene: POMK as Amber List (moderate evidence)
Genetic Epilepsy v0.2254 POMK Zornitza Stark Gene: pomk has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2253 POMK Zornitza Stark reviewed gene: POMK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 MIM#615249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2253 PRDM8 Zornitza Stark Marked gene: PRDM8 as ready
Genetic Epilepsy v0.2253 PRDM8 Zornitza Stark Gene: prdm8 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2253 PRDM8 Zornitza Stark Classified gene: PRDM8 as Red List (low evidence)
Genetic Epilepsy v0.2253 PRDM8 Zornitza Stark Gene: prdm8 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2252 PRDM8 Zornitza Stark Classified gene: PRDM8 as Red List (low evidence)
Genetic Epilepsy v0.2252 PRDM8 Zornitza Stark Gene: prdm8 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2251 PRIMA1 Zornitza Stark Marked gene: PRIMA1 as ready
Genetic Epilepsy v0.2251 PRIMA1 Zornitza Stark Gene: prima1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2251 PRIMA1 Zornitza Stark Classified gene: PRIMA1 as Red List (low evidence)
Genetic Epilepsy v0.2251 PRIMA1 Zornitza Stark Gene: prima1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2250 PPP2R5D Zornitza Stark Marked gene: PPP2R5D as ready
Genetic Epilepsy v0.2250 PPP2R5D Zornitza Stark Gene: ppp2r5d has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2250 PPP2R5D Zornitza Stark Publications for gene: PPP2R5D were set to
Genetic Epilepsy v0.2249 PPP2R5D Zornitza Stark Classified gene: PPP2R5D as Green List (high evidence)
Genetic Epilepsy v0.2249 PPP2R5D Zornitza Stark Gene: ppp2r5d has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2248 POMGNT2 Zornitza Stark Marked gene: POMGNT2 as ready
Genetic Epilepsy v0.2248 POMGNT2 Zornitza Stark Gene: pomgnt2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2248 POMGNT2 Zornitza Stark Classified gene: POMGNT2 as Amber List (moderate evidence)
Genetic Epilepsy v0.2248 POMGNT2 Zornitza Stark Gene: pomgnt2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2247 POMGNT2 Zornitza Stark reviewed gene: POMGNT2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 MIM#614830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2247 POGZ Zornitza Stark Marked gene: POGZ as ready
Genetic Epilepsy v0.2247 POGZ Zornitza Stark Gene: pogz has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2247 POGZ Zornitza Stark Classified gene: POGZ as Green List (high evidence)
Genetic Epilepsy v0.2247 POGZ Zornitza Stark Gene: pogz has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2246 PLXNC1 Zornitza Stark Marked gene: PLXNC1 as ready
Genetic Epilepsy v0.2246 PLXNC1 Zornitza Stark Gene: plxnc1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2246 PLXNC1 Zornitza Stark Classified gene: PLXNC1 as Red List (low evidence)
Genetic Epilepsy v0.2246 PLXNC1 Zornitza Stark Gene: plxnc1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2245 PEX13 Zornitza Stark Marked gene: PEX13 as ready
Genetic Epilepsy v0.2245 PEX13 Zornitza Stark Gene: pex13 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2245 PEX13 Zornitza Stark Classified gene: PEX13 as Green List (high evidence)
Genetic Epilepsy v0.2245 PEX13 Zornitza Stark Gene: pex13 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2244 PEX10 Zornitza Stark Marked gene: PEX10 as ready
Genetic Epilepsy v0.2244 PEX10 Zornitza Stark Gene: pex10 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2244 PEX10 Zornitza Stark Classified gene: PEX10 as Red List (low evidence)
Genetic Epilepsy v0.2244 PEX10 Zornitza Stark Gene: pex10 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2243 PCLO Zornitza Stark Marked gene: PCLO as ready
Genetic Epilepsy v0.2243 PCLO Zornitza Stark Gene: pclo has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2243 PCLO Zornitza Stark Classified gene: PCLO as Red List (low evidence)
Genetic Epilepsy v0.2243 PCLO Zornitza Stark Gene: pclo has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2242 PAX6 Zornitza Stark Marked gene: PAX6 as ready
Genetic Epilepsy v0.2242 PAX6 Zornitza Stark Gene: pax6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2242 PAX6 Zornitza Stark Classified gene: PAX6 as Amber List (moderate evidence)
Genetic Epilepsy v0.2242 PAX6 Zornitza Stark Gene: pax6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2241 PAK3 Zornitza Stark Marked gene: PAK3 as ready
Genetic Epilepsy v0.2241 PAK3 Zornitza Stark Gene: pak3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2241 PAK3 Zornitza Stark Classified gene: PAK3 as Amber List (moderate evidence)
Genetic Epilepsy v0.2241 PAK3 Zornitza Stark Gene: pak3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2240 OFD1 Zornitza Stark Marked gene: OFD1 as ready
Genetic Epilepsy v0.2240 OFD1 Zornitza Stark Gene: ofd1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2240 OFD1 Zornitza Stark Classified gene: OFD1 as Amber List (moderate evidence)
Genetic Epilepsy v0.2240 OFD1 Zornitza Stark Gene: ofd1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2239 NR2F1 Zornitza Stark Marked gene: NR2F1 as ready
Genetic Epilepsy v0.2239 NR2F1 Zornitza Stark Gene: nr2f1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2239 NR2F1 Zornitza Stark Classified gene: NR2F1 as Green List (high evidence)
Genetic Epilepsy v0.2239 NR2F1 Zornitza Stark Gene: nr2f1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2238 NF1 Zornitza Stark Marked gene: NF1 as ready
Genetic Epilepsy v0.2238 NF1 Zornitza Stark Gene: nf1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2238 NF1 Zornitza Stark Classified gene: NF1 as Amber List (moderate evidence)
Genetic Epilepsy v0.2238 NF1 Zornitza Stark Gene: nf1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2237 MCM3AP Zornitza Stark Marked gene: MCM3AP as ready
Genetic Epilepsy v0.2237 MCM3AP Zornitza Stark Gene: mcm3ap has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2237 MCM3AP Zornitza Stark Classified gene: MCM3AP as Red List (low evidence)
Genetic Epilepsy v0.2237 MCM3AP Zornitza Stark Gene: mcm3ap has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2236 LRPPRC Zornitza Stark Marked gene: LRPPRC as ready
Genetic Epilepsy v0.2236 LRPPRC Zornitza Stark Gene: lrpprc has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2236 LRPPRC Zornitza Stark Classified gene: LRPPRC as Amber List (moderate evidence)
Genetic Epilepsy v0.2236 LRPPRC Zornitza Stark Gene: lrpprc has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2235 COL3A1 Zornitza Stark Marked gene: COL3A1 as ready
Genetic Epilepsy v0.2235 COL3A1 Zornitza Stark Gene: col3a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2235 COL3A1 Zornitza Stark Classified gene: COL3A1 as Green List (high evidence)
Genetic Epilepsy v0.2235 COL3A1 Zornitza Stark Gene: col3a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2234 CHD1 Zornitza Stark Marked gene: CHD1 as ready
Genetic Epilepsy v0.2234 CHD1 Zornitza Stark Gene: chd1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2234 CHD1 Zornitza Stark Classified gene: CHD1 as Green List (high evidence)
Genetic Epilepsy v0.2234 CHD1 Zornitza Stark Gene: chd1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2233 SERAC1 Zornitza Stark Classified gene: SERAC1 as Green List (high evidence)
Genetic Epilepsy v0.2233 SERAC1 Zornitza Stark Gene: serac1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2232 SRCAP Zornitza Stark Classified gene: SRCAP as Green List (high evidence)
Genetic Epilepsy v0.2232 SRCAP Zornitza Stark Gene: srcap has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2231 SYNE1 Zornitza Stark Phenotypes for gene: SYNE1 were changed from Arthrogryposis multiplex congenita 3, myogenic type MIM#618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant MIM#612998; Spinocerebellar ataxia, autosomal recessive 8 MIM#610743 to Neurodevelopmental disorder, MONDO:0700092
Genetic Epilepsy v0.2230 SYNE1 Zornitza Stark Mode of inheritance for gene: SYNE1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2229 TAOK1 Zornitza Stark Marked gene: TAOK1 as ready
Genetic Epilepsy v0.2229 TAOK1 Zornitza Stark Gene: taok1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2229 NALCN Zornitza Stark Marked gene: NALCN as ready
Genetic Epilepsy v0.2229 NALCN Zornitza Stark Gene: nalcn has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2229 NALCN Zornitza Stark Classified gene: NALCN as Green List (high evidence)
Genetic Epilepsy v0.2229 NALCN Zornitza Stark Gene: nalcn has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2228 TAOK1 Elena Savva gene: TAOK1 was added
gene: TAOK1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TAOK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TAOK1 were set to Developmental delay with or without intellectual impairment or behavioral abnormalities MIM#619575
Review for gene: TAOK1 was set to RED
Added comment: No reports found of patients with seizures/epilepsy.

Gene was listed in the Oliver list
Sources: Literature
Genetic Epilepsy v0.2228 TAOK1 Elena Savva gene: TAOK1 was added
gene: TAOK1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TAOK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TAOK1 were set to Developmental delay with or without intellectual impairment or behavioral abnormalities MIM#619575
Review for gene: TAOK1 was set to RED
Added comment: No reports found of patients with seizures/epilepsy.

Gene was listed in the Oliver list
Sources: Literature
Genetic Epilepsy v0.2227 TANC2 Elena Savva Marked gene: TANC2 as ready
Genetic Epilepsy v0.2227 TANC2 Elena Savva Gene: tanc2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2227 TANC2 Elena Savva Classified gene: TANC2 as Green List (high evidence)
Genetic Epilepsy v0.2227 TANC2 Elena Savva Gene: tanc2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2226 TANC2 Elena Savva gene: TANC2 was added
gene: TANC2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TANC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TANC2 were set to PMID: 31616000
Phenotypes for gene: TANC2 were set to Intellectual developmental disorder with autistic features and language delay, with or without seizures MIM#618906
Review for gene: TANC2 was set to GREEN
Added comment: PMID: 31616000 - 11/20 individuals had either a formal diagnosis of epilepsy (n = 9) or suffered from recurrent seizures (n = 2).
Sources: Literature
Genetic Epilepsy v0.2225 TAF1C Elena Savva Marked gene: TAF1C as ready
Genetic Epilepsy v0.2225 TAF1C Elena Savva Gene: taf1c has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2225 TAF1C Elena Savva gene: TAF1C was added
gene: TAF1C was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TAF1C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAF1C were set to 32779182
Phenotypes for gene: TAF1C were set to Neurodevelopmental disorder (MONDO#0700092), TAF1C-related
Review for gene: TAF1C was set to RED
Added comment: Knuutinen et al (2020 - PMID: 32779182) report on 2 individuals from 2 consanguineous families, homozygous for TAF1C missense variants. Both presented with an early onset neurological phenotype with severe global DD, ID (2/2 - moderate and profound), spasticity (2/2), ophthalmic findings (strabismus 2/2, nystagmus 1/2). Epilepsy, abnormal brain MRI (cerebral and cerebellar atrophy and white matter hyperintensities) as well and additional findings were reported in one (always the same individual).

NO hom PTCs in gnomAD v4
Sources: Literature
Genetic Epilepsy v0.2224 SYNE1 Elena Savva Marked gene: SYNE1 as ready
Genetic Epilepsy v0.2224 SYNE1 Elena Savva Gene: syne1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2224 SYNE1 Elena Savva gene: SYNE1 was added
gene: SYNE1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SYNE1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SYNE1 were set to PMID: 31703138; 37096302; 30573412
Phenotypes for gene: SYNE1 were set to Arthrogryposis multiplex congenita 3, myogenic type MIM#618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant MIM#612998; Spinocerebellar ataxia, autosomal recessive 8 MIM#610743
Review for gene: SYNE1 was set to RED
Added comment: PMID: 31703138 - PTC in a child featuring infantile epilepsy and developmental disorder, inherited from a father with a history of convulsions in infancy

PMID: 37096302;30573412 - review, no reports noted of patients with seizures/epilepsy.

Gene was listed in the Oliver list
Sources: Literature
Genetic Epilepsy v0.2223 SUMF1 Elena Savva Marked gene: SUMF1 as ready
Genetic Epilepsy v0.2223 SUMF1 Elena Savva Gene: sumf1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2223 SUMF1 Elena Savva gene: SUMF1 was added
gene: SUMF1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUMF1 were set to 36980153; 36959582
Phenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency MIM#272200
Review for gene: SUMF1 was set to RED
Added comment: PMID: 36980153 - review, no patients described with seizures/epilepsy

PMID: 36959582 - review, no patients described with seizures/epilepsy. Single proband in the study reported to have intractable epilepsy during sleep EEG study

Gene was listed in the Oliver list
Sources: Literature
Genetic Epilepsy v0.2222 SRCAP Elena Savva Classified gene: SRCAP as Amber List (moderate evidence)
Genetic Epilepsy v0.2222 SRCAP Elena Savva Gene: srcap has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2222 SRCAP Elena Savva Marked gene: SRCAP as ready
Genetic Epilepsy v0.2222 SRCAP Elena Savva Gene: srcap has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2222 SRCAP Elena Savva Classified gene: SRCAP as Amber List (moderate evidence)
Genetic Epilepsy v0.2222 SRCAP Elena Savva Gene: srcap has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2221 SRCAP Elena Savva gene: SRCAP was added
gene: SRCAP was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SRCAP were set to 23193612; 23621943
Phenotypes for gene: SRCAP were set to Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities MIM#619595; Floating-Harbor syndrome MIM#136140
Review for gene: SRCAP was set to AMBER
Added comment: OMIM: Seizures listed as a rare trait for both conditions

GeneReviews: Seizures have been observed in seven of 73 individuals.

PMID: 23621943: review, 6/52 patients reported with seizures
Sources: Literature
Genetic Epilepsy v0.2220 SOX11 Elena Savva Mode of pathogenicity for gene: SOX11 was changed from None to None
Genetic Epilepsy v0.2219 SOX11 Elena Savva Marked gene: SOX11 as ready
Genetic Epilepsy v0.2219 SOX11 Elena Savva Gene: sox11 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2219 SOX11 Elena Savva gene: SOX11 was added
gene: SOX11 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX11 were set to Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism MIM#615866
Review for gene: SOX11 was set to RED
Added comment: No reports found of patients with seizures/epilepsy.

Gene was listed in the Oliver list
Sources: Literature
Genetic Epilepsy v0.2218 SON Elena Savva Classified gene: SON as Green List (high evidence)
Genetic Epilepsy v0.2218 SON Elena Savva Gene: son has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2217 SON Elena Savva Classified gene: SON as Green List (high evidence)
Genetic Epilepsy v0.2217 SON Elena Savva Gene: son has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2217 SON Elena Savva Classified gene: SON as Green List (high evidence)
Genetic Epilepsy v0.2217 SON Elena Savva Gene: son has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2216 SON Elena Savva Marked gene: SON as ready
Genetic Epilepsy v0.2216 SON Elena Savva Gene: son has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2216 SON Elena Savva gene: SON was added
gene: SON was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SON were set to PMID: 37488749; 27545680
Phenotypes for gene: SON were set to ZTTK syndrome MIM#617140
Review for gene: SON was set to GREEN
Added comment: Seizures (in some patients) noted in OMIM

PMID: 37488749 - review of 79 patients, seizures not described

PMID: 27545680 - 11 of 20 individuals developed seizures and/or epilepsy with an age of onset ranging from 1 to 6 years
Sources: Literature
Genetic Epilepsy v0.2215 BET1 Zornitza Stark Phenotypes for gene: BET1 were changed from Muscular dystrophy MONDO:0020121 to Muscular dystrophy, congenital, with rapid progression, MIM# 254100
Genetic Epilepsy v0.2214 BET1 Zornitza Stark edited their review of gene: BET1: Changed phenotypes: Muscular dystrophy, congenital, with rapid progression, MIM# 254100
Genetic Epilepsy v0.2214 SNAP29 Elena Savva Marked gene: SNAP29 as ready
Genetic Epilepsy v0.2214 SNAP29 Elena Savva Gene: snap29 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2214 SNAP29 Elena Savva Classified gene: SNAP29 as Green List (high evidence)
Genetic Epilepsy v0.2214 SNAP29 Elena Savva Gene: snap29 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2213 SNAP29 Elena Savva gene: SNAP29 was added
gene: SNAP29 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNAP29 were set to PMID: 33977139
Phenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome MIM#609528
Review for gene: SNAP29 was set to GREEN
Added comment: Seizures (in some patients) noted in OMIM

PMID: 33977139 - cohort of 6 probands, seizures detected in 3/6. Paper reviews previous reports, notes seizures in another cohort of 7/19
Sources: Literature
Genetic Epilepsy v0.2212 SMARCE1 Elena Savva Marked gene: SMARCE1 as ready
Genetic Epilepsy v0.2212 SMARCE1 Elena Savva Gene: smarce1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2212 SMARCE1 Elena Savva gene: SMARCE1 was added
gene: SMARCE1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SMARCE1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMARCE1 were set to PMID: 30548424
Phenotypes for gene: SMARCE1 were set to Coffin-Siris syndrome 5 MIM#616938
Review for gene: SMARCE1 was set to RED
Added comment: PMID: 30548424 - Proband with a de novo splice variant (proven to result in inframe exon skipping), presented with seizures, hypotonia, GDD, ataxia etc.

No other literature showing SNVs in this gene and epilepsy/seizures. Gene was listed in the Oliver review
Sources: Literature
Genetic Epilepsy v0.2211 SLC19A3 Elena Savva Marked gene: SLC19A3 as ready
Genetic Epilepsy v0.2211 SLC19A3 Elena Savva Gene: slc19a3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2211 SLC19A3 Elena Savva Classified gene: SLC19A3 as Green List (high evidence)
Genetic Epilepsy v0.2211 SLC19A3 Elena Savva Gene: slc19a3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2210 SLC19A3 Elena Savva gene: SLC19A3 was added
gene: SLC19A3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC19A3 were set to PMID: 37670342; 23269594; 26863430
Phenotypes for gene: SLC19A3 were set to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) MIM#607483
Review for gene: SLC19A3 was set to GREEN
Added comment: Seizures noted in OMIM

PMID: 37670342 - 1/21 probands had absence seizure on Depakene. Hom missense but many families in this paper had the same variant (likely founder).

PMID: 23269594 - 8/10 patients had acute-subacute onset consisting of ataxia, seizures, and encephalopathy. All probands had the same recurring missense described in PMID: 37670342.

PMID: 26863430 - two siblings with early-onset encephalopathy dystonia and epilepsy,
Sources: Literature
Genetic Epilepsy v0.2209 SHANK3 Elena Savva Marked gene: SHANK3 as ready
Genetic Epilepsy v0.2209 SHANK3 Elena Savva Gene: shank3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2209 SHANK3 Elena Savva Classified gene: SHANK3 as Green List (high evidence)
Genetic Epilepsy v0.2209 SHANK3 Elena Savva Gene: shank3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2209 SHANK3 Elena Savva Classified gene: SHANK3 as Green List (high evidence)
Genetic Epilepsy v0.2209 SHANK3 Elena Savva Gene: shank3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2208 SHANK3 Elena Savva gene: SHANK3 was added
gene: SHANK3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SHANK3 were set to PMID: 37655421
Phenotypes for gene: SHANK3 were set to Phelan-McDermid syndrome MIM#606232
Review for gene: SHANK3 was set to GREEN
Added comment: Seizures listed in OMIM, SHANK3 is often involved in a 22q13.3 deletion

PMID: 37655421 - Proband with a PTC, presenting with epileptic seizures, impaired speech development

PMID: 36967043 - large review, considered patients who had the 22q13.3 deletion as well as SNVs. Prevalence of epilepsy ranged from 17-70% in one study, 27% in another study and 41% in another. Seizure type was highly variable, ranging from atypical absent, tonic, atonic, tonic-clonic and myoclonic.
Sources: Literature
Genetic Epilepsy v0.2207 SERAC1 Elena Savva Marked gene: SERAC1 as ready
Genetic Epilepsy v0.2207 SERAC1 Elena Savva Gene: serac1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2207 SERAC1 Elena Savva Classified gene: SERAC1 as Amber List (moderate evidence)
Genetic Epilepsy v0.2207 SERAC1 Elena Savva Gene: serac1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2206 SERAC1 Elena Savva gene: SERAC1 was added
gene: SERAC1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERAC1 were set to PMID: 27186703; 24997715
Phenotypes for gene: SERAC1 were set to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MIM#614739
Review for gene: SERAC1 was set to AMBER
Added comment: Seizures (less common) listed in OMIM

PMID: 27186703 - two sibling patients who presented with 3-methylglutaconic acid and 3-methylglutaric aciduria, microcephaly, growth retardation, dysmorphic features, severe sensorineural deafness, progressive spasticity, dystonia, seizures and basal ganglia involvement.

PMID: 24997715 - Proband with biallelic PTCs, presented with 3-methylglutaconic aciduria, sensorineural hearing loss, encephalopathy, and Leigh-like pattern on MRI, as well as developmental delay and developmental regression, bilateral optic nerve atrophy, microcephaly, and myoclonic epilepsy.

GeneReviews - 38% of patients have seizures (febrile, myoclonic)
Sources: Literature
Genetic Epilepsy v0.2205 SCN10A Elena Savva Marked gene: SCN10A as ready
Genetic Epilepsy v0.2205 SCN10A Elena Savva Gene: scn10a has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2205 SCN10A Elena Savva gene: SCN10A was added
gene: SCN10A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SCN10A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCN10A were set to PMID: 28078312
Phenotypes for gene: SCN10A were set to Episodic pain syndrome, familial, 2 MIM#615551; Neurodevelopmental disorder (MONDO#0700092), SCN10A-related
Review for gene: SCN10A was set to RED
Added comment: PMID: 28078312 - three families (2x biallelic missense, hom PTC).
- family 1 had progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures
- family 2 had neonatal hypotonia, bradycardia, and recurrent seizures
- family 3 had febrile infection-related epilepsy syndrome (FIRES)
- Additional 5 probands reported with biallelic missense and Lennox–Gastaut syndrome, epilepsy databases and autism databases
- Het carriers of PTC were NOT affected, but LOF is NOT a known mechanism of AD disease

Red for biallelic disease - none of the missense had functional studies to support pathogenicity. More evidence needed.
Sources: Literature
Genetic Epilepsy v0.2204 SACS Elena Savva Classified gene: SACS as Amber List (moderate evidence)
Genetic Epilepsy v0.2204 SACS Elena Savva Gene: sacs has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2203 SACS Elena Savva Classified gene: SACS as Amber List (moderate evidence)
Genetic Epilepsy v0.2203 SACS Elena Savva Gene: sacs has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2202 SACS Elena Savva Marked gene: SACS as ready
Genetic Epilepsy v0.2202 SACS Elena Savva Gene: sacs has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2202 SACS Elena Savva gene: SACS was added
gene: SACS was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SACS were set to PMID: 27871429; 35386405
Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type MIM#270550
Review for gene: SACS was set to AMBER
Added comment: PMID: 27871429 - two consanguinous families (8 affecteds) with homozygous PTCs. Epilepsy observed for all 4/4 members of a single family. Authors note seizures may be present in 10% of SACS patients

PMID: 35386405 - Review of chinese patients, found 4/27 patients had epilepsy (one was questionable)
Sources: Literature
Genetic Epilepsy v0.2201 TMEM5 Elena Savva Marked gene: TMEM5 as ready
Genetic Epilepsy v0.2201 TMEM5 Elena Savva Gene: tmem5 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2201 TMEM5 Elena Savva gene: TMEM5 was added
gene: TMEM5 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM5 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 MIM#615041
Review for gene: TMEM5 was set to RED
Added comment: Alt, gene name RXYLT1

No literature showing SNVs in this gene and epilepsy/seizures. Gene was listed in the Oliver review
Sources: Literature
Genetic Epilepsy v0.2200 SP9 Zornitza Stark Marked gene: SP9 as ready
Genetic Epilepsy v0.2200 SP9 Zornitza Stark Gene: sp9 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2200 SP9 Zornitza Stark Phenotypes for gene: SP9 were changed from neurodevelopmental disorder MONDO:0700092 to neurodevelopmental disorder MONDO:0700092, SP9-related
Genetic Epilepsy v0.2199 SP9 Zornitza Stark Classified gene: SP9 as Green List (high evidence)
Genetic Epilepsy v0.2199 SP9 Zornitza Stark Gene: sp9 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2198 SP9 Suliman Khan gene: SP9 was added
gene: SP9 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SP9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SP9 were set to PMID: 38288683
Phenotypes for gene: SP9 were set to neurodevelopmental disorder MONDO:0700092
Penetrance for gene: SP9 were set to Incomplete
Review for gene: SP9 was set to GREEN
Added comment: PMID: 38288683: reported 5 unrelated patients with de novo heterozygous variants (missense and PTV) in SP9 gene. In silico and in vitro studies suggested a novel form of interneuronopathy with variable severity depending on the presence of loss or gain of function variants. Patients with loss-of-function variants had ID, ASD, and epilepsy, whereas missense variants in the second C2H2 binding domain result in hypomorphic and neomorphic DNA binding functions that cause severe epileptic encephalopathy. The author suggested a novel form of interneuronopathy with variable severity depending on the presence of loss or gain of function variants.
Sources: Literature
Genetic Epilepsy v0.2198 CCDC88C Rylee Peters reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: None; Publications: 38173219; Phenotypes: monogenic epilepsy MONDO:0015653, CCDC88C-related; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genetic Epilepsy v0.2198 CAMK2D Elena Savva Classified gene: CAMK2D as Amber List (moderate evidence)
Genetic Epilepsy v0.2198 CAMK2D Elena Savva Gene: camk2d has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2198 CAMK2D Elena Savva Classified gene: CAMK2D as Amber List (moderate evidence)
Genetic Epilepsy v0.2198 CAMK2D Elena Savva Gene: camk2d has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2197 CAMK2D Elena Savva Marked gene: CAMK2D as ready
Genetic Epilepsy v0.2197 CAMK2D Elena Savva Gene: camk2d has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2197 CAMK2D Elena Savva gene: CAMK2D was added
gene: CAMK2D was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CAMK2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CAMK2D were set to 38272033
Phenotypes for gene: CAMK2D were set to Neurodevelopmental disorder (MONDO#0700092), CAMK2D-related
Review for gene: CAMK2D was set to AMBER
Added comment: PMID: 38272033
- 8 patients (5/8 de novo) with mostly missense and a single splice site variant, ages range from 5 weeks to 20 years old
- Most variants functionally shown to have a GOF mechanism causing addition DCM phenotype, LOF is only neurological
- Phenotypes include dev delay (mild-severe) (7/7 patients), skeletal anomalies (7/8, scoliosis, kyphosis, involving spine/hands/feet/palate), DCM (6/8), seizures (3/8), visual anomalies (astigmatism, cortical vision impairment, myopia, strabismus 5/5), enlarged brain ventricles (3/5)
Sources: Literature
Genetic Epilepsy v0.2196 LMX1B Elena Savva Marked gene: LMX1B as ready
Genetic Epilepsy v0.2196 LMX1B Elena Savva Gene: lmx1b has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2196 LMX1B Elena Savva gene: LMX1B was added
gene: LMX1B was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LMX1B were set to Focal segmental glomerulosclerosis 10 MIM#256020; Nail-patella syndrome MIM#161200
Review for gene: LMX1B was set to RED
Added comment: GeneReviews - Epilepsy was reported in 6% of affected individuals in one large study [Sweeney et al 2003].

No new literature describing SNVs in this gene and epilepsy/seizures.

Gene was listed on Oliver's list
Sources: Literature
Genetic Epilepsy v0.2195 LMNB2 Elena Savva gene: LMNB2 was added
gene: LMNB2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: LMNB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMNB2 were set to PMID: 33783721; 25954030; 34466237
Phenotypes for gene: LMNB2 were set to ?Epilepsy, progressive myoclonic, 9 MIM#616540
Review for gene: LMNB2 was set to AMBER
Added comment: PMID: 33783721 - hom missense p.(Arg158Trp) in a proband with Progressive myoclonus epilepsies. No functional studies to validate the missense variant

PMID: 25954030 - hom missense p.(His157Tyr) in a proband with Progressive myoclonus epilepsies. In vitro assembly analysis of mutant lamin B2 protein revealed a distinct defect in the assembly of the highly ordered fibrous arrays typically formed by wild-type lamin B2, variant segregated in the affected sister

PMID: 34466237 - Hom missense p.(Arg158Leu) in a 5yo boy with progressive wide-based ataxic gait and intractable myoclonic seizure. All unaffected relatives (13) were het or wildtype

Association to epilepsy is amber and biallelic
Seizures noted as a rare feature of dominant disease in OMIM
Sources: Literature
Genetic Epilepsy v0.2194 L2HGDH Elena Savva Classified gene: L2HGDH as Green List (high evidence)
Genetic Epilepsy v0.2194 L2HGDH Elena Savva Gene: l2hgdh has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2193 L2HGDH Elena Savva Classified gene: L2HGDH as Green List (high evidence)
Genetic Epilepsy v0.2193 L2HGDH Elena Savva Gene: l2hgdh has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2192 L2HGDH Elena Savva Marked gene: L2HGDH as ready
Genetic Epilepsy v0.2192 L2HGDH Elena Savva Gene: l2hgdh has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2192 L2HGDH Elena Savva gene: L2HGDH was added
gene: L2HGDH was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: L2HGDH were set to PMID: 37113859
Phenotypes for gene: L2HGDH were set to L-2-hydroxyglutaric aciduria MIM#236792
Review for gene: L2HGDH was set to GREEN
Added comment: PMID: 37113859 - two sisters with a hom PTC, features included delayed milestones, both had generalised tonic clonic seizures associated with fever in childhood. Reviews literature, notes seizures observed in 26% of patients
Sources: Literature
Genetic Epilepsy v0.2191 KRIT1 Elena Savva Classified gene: KRIT1 as Green List (high evidence)
Genetic Epilepsy v0.2191 KRIT1 Elena Savva Gene: krit1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2191 KRIT1 Elena Savva Classified gene: KRIT1 as Green List (high evidence)
Genetic Epilepsy v0.2191 KRIT1 Elena Savva Gene: krit1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2190 KRIT1 Elena Savva Marked gene: KRIT1 as ready
Genetic Epilepsy v0.2190 KRIT1 Elena Savva Gene: krit1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2190 KRIT1 Elena Savva gene: KRIT1 was added
gene: KRIT1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KRIT1 were set to 35836010; 35444609
Phenotypes for gene: KRIT1 were set to Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations MIM#116860; Cavernous malformations of CNS and retina MIM#116860; Cerebral cavernous malformations-1 MIM#116860
Review for gene: KRIT1 was set to GREEN
Added comment: Seizures noted as a feature in OMIM

PMID: 35836010 - proband presenting with seizures, nausea and vomiting, tachycardia, and bulging fontanelles

PMID: 35444609 - Family with CCM, segregated extensively. Only a single relative had seizures, but infrequently. Review, notes ~60% of individuals with cavernous hemangioma will experience seizures

GeneReviews - "The cumulative incidence of childhood seizures is ~20% (~60% by age 80 yrs)."
Sources: Literature
Genetic Epilepsy v0.2189 KMT2B Elena Savva Marked gene: KMT2B as ready
Genetic Epilepsy v0.2189 KMT2B Elena Savva Gene: kmt2b has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2189 KMT2B Elena Savva gene: KMT2B was added
gene: KMT2B was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KMT2B were set to PMID: 34477219; 37309110
Phenotypes for gene: KMT2B were set to Dystonia 28, childhood-onset MIM#617284; Intellectual developmental disorder, autosomal dominant 68 MIM#619934
Review for gene: KMT2B was set to RED
Added comment: PMID: 34477219 - Single 30yo patient with a canonical splice variant resulting in inframe exon 8 skipping. Presented with adult-onset cerebellar ataxia, minor dystonia, neuropathy and seizure

PMID: 37309110 - large review study, no patients specified to have seizures/epilepsy

Gene was listed in the Oliver review
Sources: Literature
Genetic Epilepsy v0.2188 KMT2A Elena Savva Classified gene: KMT2A as Green List (high evidence)
Genetic Epilepsy v0.2188 KMT2A Elena Savva Gene: kmt2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2188 KMT2A Elena Savva Classified gene: KMT2A as Green List (high evidence)
Genetic Epilepsy v0.2188 KMT2A Elena Savva Gene: kmt2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2187 KMT2A Elena Savva Marked gene: KMT2A as ready
Genetic Epilepsy v0.2187 KMT2A Elena Savva Gene: kmt2a has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2187 KMT2A Elena Savva gene: KMT2A was added
gene: KMT2A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KMT2A were set to PMID: 37075569
Phenotypes for gene: KMT2A were set to Wiedemann-Steiner syndrome MIM#605130
Review for gene: KMT2A was set to GREEN
Added comment: OMIM notes seizures were observed in a single patient

PMID: 37075569 - couldnt access paper, but abstract notes five patients with DEE, where epilepsy ranged from drug resistant to self-limited. Reviews literature and notes 33 patients with epilepsy, but limited clinical details.
Sources: Literature
Genetic Epilepsy v0.2186 KDM6A Elena Savva Marked gene: KDM6A as ready
Genetic Epilepsy v0.2186 KDM6A Elena Savva Gene: kdm6a has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2186 KDM6A Elena Savva gene: KDM6A was added
gene: KDM6A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: KDM6A were set to PMID: 28442529
Phenotypes for gene: KDM6A were set to Kabuki syndrome 2 MIM#300867
Review for gene: KDM6A was set to RED
Added comment: PMID: 28442529 - describes generalized epilepsy with febrile seizures plus in a family with a co-segregating SCN1A variant. Proband had GEFS+, dysmorphic facial features, short stature, developmental delay, and intellectual disability.

Gene was on the Oliver list
Sources: Literature
Genetic Epilepsy v0.2185 KDM5A Elena Savva Marked gene: KDM5A as ready
Genetic Epilepsy v0.2185 KDM5A Elena Savva Gene: kdm5a has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2185 KDM5A Elena Savva gene: KDM5A was added
gene: KDM5A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KDM5A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KDM5A were set to PMID: 34210021
Phenotypes for gene: KDM5A were set to Neurodevelopmental disorder MONDO:0700092, KDM5A-related
Review for gene: KDM5A was set to RED
Added comment: PMID: 34210021 - large multigene deletion in a family with ID, epilepsy and schizophrenia. This gene and CACNA1C were considered the best candidates.

No evidence of SNVs in this gene causing epilepsy. This gene was on the Oliver list
Sources: Literature
Genetic Epilepsy v0.2184 KATNB1 Elena Savva gene: KATNB1 was added
gene: KATNB1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KATNB1 were set to PMID: 26640080
Phenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly MIM#616212
Review for gene: KATNB1 was set to RED
Added comment: PMID: 26640080 - Proband with congenital microcephaly, lissencephaly, short stature, polysyndactyly, and dental abnormalities. Seizures developed by 6mo, had a homozygous canonical splice deletion

PMID: 31484711 - describes patients with seizures (epilepsy was documented in 69%) from a cohort with subcortical heterotopic gray matter malformations, but unclear which were specific for this gene
Sources: Literature
Genetic Epilepsy v0.2183 KAT6A Elena Savva Marked gene: KAT6A as ready
Genetic Epilepsy v0.2183 KAT6A Elena Savva Gene: kat6a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2183 KAT6A Elena Savva Classified gene: KAT6A as Green List (high evidence)
Genetic Epilepsy v0.2183 KAT6A Elena Savva Gene: kat6a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2182 KAT6A Elena Savva gene: KAT6A was added
gene: KAT6A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KAT6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KAT6A were set to PMID: 34748993
Phenotypes for gene: KAT6A were set to Arboleda-Tham syndrome MIM#616268
Review for gene: KAT6A was set to GREEN
Added comment: PMID: 34748993 - 2 new probands with KAT6A syndrome and epilepsy.
Proband 1 - Epilepsy onset was at 3 months of age when daily right hemiclonic seizures appeared in sleep. Had a de novo missense, previously reported as pathogenic.
Proband 2 - Seizures onset was at 5 months with daily clusters of symmetric spasms characterized by flexion of the arms, extension of the legs and eyes’ rolling. Had a de novo PTC

Paper then reviews literature, notes 17/90 probands had epilepsy
Sources: Literature
Genetic Epilepsy v0.2181 KANSL1 Elena Savva Classified gene: KANSL1 as Green List (high evidence)
Genetic Epilepsy v0.2181 KANSL1 Elena Savva Gene: kansl1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2180 KANSL1 Elena Savva Marked gene: KANSL1 as ready
Genetic Epilepsy v0.2180 KANSL1 Elena Savva Gene: kansl1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2180 KANSL1 Elena Savva gene: KANSL1 was added
gene: KANSL1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KANSL1 were set to PMID: 28440867
Phenotypes for gene: KANSL1 were set to Koolen-De Vries syndrome MIM#610443
Review for gene: KANSL1 was set to GREEN
Added comment: GeneReviews: describes seizures/epilepsy as a less common trait, where OMIM notes its in 50% of cases.

PMID: 28440867 - Median age at seizure onset was 3.5 years, and 9 of 22 had refractory seizures 2 years after onset. Focal impaired awareness seizures were the most frequent seizure type occurring in 20 of 31, usually with prominent autonomic features.
Sources: Literature
Genetic Epilepsy v0.2179 JMJD1C Elena Savva Classified gene: JMJD1C as Amber List (moderate evidence)
Genetic Epilepsy v0.2179 JMJD1C Elena Savva Gene: jmjd1c has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2178 JMJD1C Elena Savva Classified gene: JMJD1C as Amber List (moderate evidence)
Genetic Epilepsy v0.2178 JMJD1C Elena Savva Gene: jmjd1c has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2177 JMJD1C Elena Savva Marked gene: JMJD1C as ready
Genetic Epilepsy v0.2177 JMJD1C Elena Savva Gene: jmjd1c has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2177 JMJD1C Elena Savva gene: JMJD1C was added
gene: JMJD1C was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: JMJD1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: JMJD1C were set to PMID: 32996679; 26181491; 31954878
Phenotypes for gene: JMJD1C were set to Intellectual disability (MONDO#0001071), JMJD1C-related
Review for gene: JMJD1C was set to AMBER
Added comment: PMID: 32996679 - de novo synonymous variant resulting in a 21bp deletion, who had learning disability and myoclonic epilepsy (onset 10yo).
Paper reviews prev reports, notes only 1/19 other patients with seizures (p.P163L)

PMID: 26181491 - de novo p.P163L (same as above), in a proband with gait dyspraxia, hand-washing stereotype, learning impairment, teeth grinding, air swallowing, kyphoscoliosis, and tonic epilepsy. Functional studies support missense pathogenicity.

PMID: 31954878 - 2/7 patients with de novo variants with ASD, ID and seizures. One proband had a de novo missense (p.V117I), another a PTC (p.P109Lfs*3) of unknown inheritance
Sources: Literature
Genetic Epilepsy v0.2176 JARID2 Elena Savva gene: JARID2 was added
gene: JARID2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: JARID2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: JARID2 were set to PMID: 22480366
Phenotypes for gene: JARID2 were set to Developmental delay with variable intellectual disability and dysmorphic facies MIM#620098
Review for gene: JARID2 was set to RED
Added comment: PMID: 22480366 - part of a larger multigene deletion, where a patient had seizures.

No patients with seizures reported with SNVs, but on the Oliver list as a gene to be considered.
Sources: Literature
Genetic Epilepsy v0.2175 ITGB4 Elena Savva Marked gene: ITGB4 as ready
Genetic Epilepsy v0.2175 ITGB4 Elena Savva Gene: itgb4 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2175 ITGB4 Elena Savva gene: ITGB4 was added
gene: ITGB4 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional 5A, intermediate MIM#619816; Epidermolysis bullosa, junctional 5B, with pyloric atresia MIM#226730
Review for gene: ITGB4 was set to RED
Added comment: No reports of seizures/epilepsy in probands with biallelic variants in this gene
Sources: Literature
Genetic Epilepsy v0.2174 INTS8 Elena Savva Marked gene: INTS8 as ready
Genetic Epilepsy v0.2174 INTS8 Elena Savva Gene: ints8 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2174 INTS8 Elena Savva gene: INTS8 was added
gene: INTS8 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: INTS8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INTS8 were set to ?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity MIM#618572
Review for gene: INTS8 was set to RED
Added comment: No published evidence associating this gene and epilepsy
Sources: Literature
Genetic Epilepsy v0.2173 IBA57 Elena Savva Marked gene: IBA57 as ready
Genetic Epilepsy v0.2173 IBA57 Elena Savva Gene: iba57 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2173 IBA57 Elena Savva gene: IBA57 was added
gene: IBA57 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IBA57 were set to PMID: 30258207
Phenotypes for gene: IBA57 were set to Multiple mitochondrial dysfunctions syndrome 3 MIM#615330
Review for gene: IBA57 was set to RED
Added comment: PMID: 30258207 - girl with developmental regression and spastic quadriplegia. Brain MRI at 8 months showed cerebral white matter involvement, periventricular rarefaction, and corpus callosum involvement. She developed febrile seizures at the age of 18 months.
Chet missense pair found, no functional studies to support pathogenicity
Sources: Literature
Genetic Epilepsy v0.2172 IARS2 Elena Savva Marked gene: IARS2 as ready
Genetic Epilepsy v0.2172 IARS2 Elena Savva Gene: iars2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2172 IARS2 Elena Savva gene: IARS2 was added
gene: IARS2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IARS2 were set to PMID: 30041933
Phenotypes for gene: IARS2 were set to Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia MIM#616007
Review for gene: IARS2 was set to RED
Added comment: PMID: 30041933 - Japanese sibling pair presented with Leigh syndrome and infantile spasms. The siblings were identified with compound heterozygous missense mutations p.[(Phe227Ser)];[(Arg817His)]. No functional studies to support the pathogenicity of the missense variants
Sources: Literature
Genetic Epilepsy v0.2171 DHX16 Zornitza Stark Marked gene: DHX16 as ready
Genetic Epilepsy v0.2171 DHX16 Zornitza Stark Gene: dhx16 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2171 DHX16 Zornitza Stark Classified gene: DHX16 as Green List (high evidence)
Genetic Epilepsy v0.2171 DHX16 Zornitza Stark Gene: dhx16 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2170 DOHH Zornitza Stark Marked gene: DOHH as ready
Genetic Epilepsy v0.2170 DOHH Zornitza Stark Gene: dohh has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2170 DOHH Zornitza Stark Classified gene: DOHH as Green List (high evidence)
Genetic Epilepsy v0.2170 DOHH Zornitza Stark Gene: dohh has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2169 ECHS1 Zornitza Stark Marked gene: ECHS1 as ready
Genetic Epilepsy v0.2169 ECHS1 Zornitza Stark Gene: echs1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2169 ECHS1 Zornitza Stark Phenotypes for gene: ECHS1 were changed from Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277; Leigh syndrome MONDO:0009723; cerebral palsy MONDO:0006497; paroxysmal dystonia MONDO:0016058 to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277
Genetic Epilepsy v0.2168 ECHS1 Zornitza Stark Classified gene: ECHS1 as Green List (high evidence)
Genetic Epilepsy v0.2168 ECHS1 Zornitza Stark Gene: echs1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2167 EED Zornitza Stark Marked gene: EED as ready
Genetic Epilepsy v0.2167 EED Zornitza Stark Gene: eed has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2167 EED Zornitza Stark Classified gene: EED as Red List (low evidence)
Genetic Epilepsy v0.2167 EED Zornitza Stark Gene: eed has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2166 ECM1 Zornitza Stark Phenotypes for gene: ECM1 were changed from Urbach-Wiethe disease, MIM# 247100 to Urbach-Wiethe disease, MIM# 247100
Genetic Epilepsy v0.2166 ECM1 Zornitza Stark Marked gene: ECM1 as ready
Genetic Epilepsy v0.2166 ECM1 Zornitza Stark Gene: ecm1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2166 ECM1 Zornitza Stark Phenotypes for gene: ECM1 were changed from to Urbach-Wiethe disease, MIM# 247100
Genetic Epilepsy v0.2165 ECM1 Zornitza Stark Classified gene: ECM1 as Green List (high evidence)
Genetic Epilepsy v0.2165 ECM1 Zornitza Stark Gene: ecm1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2164 ECM1 Zornitza Stark reviewed gene: ECM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Urbach-Wiethe disease, MIM# 247100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2164 KARS Zornitza Stark Marked gene: KARS as ready
Genetic Epilepsy v0.2164 KARS Zornitza Stark Gene: kars has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2164 KARS Zornitza Stark Phenotypes for gene: KARS were changed from to Leukoencephalopathy, progressive, infantile-onset, with or without deafness MIM#619147
Genetic Epilepsy v0.2163 KARS Zornitza Stark Publications for gene: KARS were set to
Genetic Epilepsy v0.2162 KARS Zornitza Stark Mode of inheritance for gene: KARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2161 ATP6V0A1 Elena Savva Phenotypes for gene: ATP6V0A1 were changed from Developmental and epileptic encephalopathy 104 MIM#619970; Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971 to Developmental and epileptic encephalopathy 104 MIM#619970; Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971
Genetic Epilepsy v0.2161 ATP6V0A1 Elena Savva Phenotypes for gene: ATP6V0A1 were changed from Neurodevelopmental disorder, MONDO:0700092, ATP6V0A1-associated to Developmental and epileptic encephalopathy 104 MIM#619970; Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971
Genetic Epilepsy v0.2160 EIF2AK2 Zornitza Stark Marked gene: EIF2AK2 as ready
Genetic Epilepsy v0.2160 EIF2AK2 Zornitza Stark Gene: eif2ak2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2160 EIF2AK2 Zornitza Stark Classified gene: EIF2AK2 as Green List (high evidence)
Genetic Epilepsy v0.2160 EIF2AK2 Zornitza Stark Gene: eif2ak2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2159 KPNA7 Elena Savva Phenotypes for gene: KPNA7 were changed from severe neurodevelopmental defects; epilepsy to Neurodevelopmental disorder (MONDO#0700092), KPNA7-related
Genetic Epilepsy v0.2158 KIF4A Elena Savva Publications for gene: KIF4A were set to 24812067; 34346154
Genetic Epilepsy v0.2158 KIF4A Elena Savva Classified gene: KIF4A as Amber List (moderate evidence)
Genetic Epilepsy v0.2158 KIF4A Elena Savva Gene: kif4a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2157 KIF4A Elena Savva reviewed gene: KIF4A: Rating: ; Mode of pathogenicity: None; Publications: PMID: 36482480, 24812067, 34346154; Phenotypes: ; Mode of inheritance: None
Genetic Epilepsy v0.2157 KIF4A Elena Savva Phenotypes for gene: KIF4A were changed from Mental retardation, X-linked 100, MIM# 300923 to Intellectual developmental disorder, X-linked 100 MIM#300923
Genetic Epilepsy v0.2156 KIF1BP Elena Savva Classified gene: KIF1BP as Red List (low evidence)
Genetic Epilepsy v0.2156 KIF1BP Elena Savva Gene: kif1bp has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2155 KIF1BP Elena Savva reviewed gene: KIF1BP: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 28277559; Phenotypes: Goldberg-Shprintzen megacolon syndrome, MIM#609460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2155 KCTD13 Elena Savva Mode of inheritance for gene: KCTD13 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genetic Epilepsy v0.2154 KCTD13 Elena Savva Phenotypes for gene: KCTD13 were changed from Neurodevelopmental disorder (MONDO#0700092), KCTD13-related to Neurodevelopmental disorder (MONDO#0700092), KCTD13-related
Genetic Epilepsy v0.2154 KCTD13 Elena Savva Phenotypes for gene: KCTD13 were changed from to Neurodevelopmental disorder (MONDO#0700092), KCTD13-related
Genetic Epilepsy v0.2153 KCNN3 Elena Savva Phenotypes for gene: KCNN3 were changed from Zimmermann-Laband syndrome to Zimmermann-Laband syndrome 3 MIM#618658
Genetic Epilepsy v0.2153 KCNN3 Elena Savva Publications for gene: KCNN3 were set to PMID: 33594261
Genetic Epilepsy v0.2152 KCNN3 Elena Savva reviewed gene: KCNN3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34907639; Phenotypes: Zimmermann-Laband syndrome 3 MIM#618658; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genetic Epilepsy v0.2152 KCNAB3 Elena Savva Publications for gene: KCNAB3 were set to PMID: 32990398
Genetic Epilepsy v0.2151 KCNAB3 Elena Savva reviewed gene: KCNAB3: Rating: RED; Mode of pathogenicity: None; Publications: 37396552, 32990398, 36345448; Phenotypes: Neurodevelopmental disorder (MONDO#0700092), KCNAB3-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genetic Epilepsy v0.2151 KCNAB3 Elena Savva Phenotypes for gene: KCNAB3 were changed from febrile seizures; afebrile seizure; genetic epilepsy with febrile seizures plus to Neurodevelopmental disorder (MONDO#0700092), KCNAB3-related
Genetic Epilepsy v0.2150 KARS Elena Savva reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33942428; Phenotypes: Leukoencephalopathy, progressive, infantile-onset, with or without deafness MIM#619147; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2150 JAKMIP1 Elena Savva Phenotypes for gene: JAKMIP1 were changed from Intellectual disability; Seizures to Neurodevelopmental disorder (MONDO#0700092), JAKMIP1-related
Genetic Epilepsy v0.2149 ECM1 Andrew Fennell changed review comment from: PMID: 28434238 - 4 individuals with seizures from a cohort of 16. Note, that the authors focused on long-term progress of patients with seizures and/or brain calcification and excluded from the description those without those features. This means the quoted 57% prevalence of seizures was actually 25%. Seizure types included focal & absence.

PMID: 11929856 - references to previous studies predating the molecular understanding of the disorder with seizures being a common feature.
Sources: Literature; to: PMID: 28434238 - 4 individuals with seizures from a cohort of 16. Note, that the authors focused on long-term progress of patients with seizures and/or brain calcification and excluded from the description those without those features. This means the quoted 57% prevalence of seizures was actually 25%. Seizure types included focal & absence.

PMID: 11929856 - references to previous studies predating the molecular understanding of the disorder with seizures being a common feature.
Sources: Literature
Genetic Epilepsy v0.2149 EIF2AK2 Andrew Fennell gene: EIF2AK2 was added
gene: EIF2AK2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF2AK2 were set to PMID: 32197074
Phenotypes for gene: EIF2AK2 were set to Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, MIM# 618877
Review for gene: EIF2AK2 was set to GREEN
Added comment: PMID: 32197074 - Four individuals (50%) with seizures including GTCS, focal tonic, and focal complex types.

PMID: 33236446 - a single individual with neonatal generalised tonic seizures, dystonia, significant ID and later spasticity.
Sources: Literature
Genetic Epilepsy v0.2149 EED Andrew Fennell gene: EED was added
gene: EED was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: EED was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EED were set to PMID: 34533271
Phenotypes for gene: EED were set to Cohen-Gibson syndrome, MIM# 617561
Review for gene: EED was set to RED
Added comment: PMID: 34533271 - single case report of child with absence epilepsy aged 5yrs and subsequent GTC seizures throughout childhood.

Note, Griffiths et al (2019) reported 1 patient with seizures but later attributed this to hyperinsulinaemic hypoglycaemia.
Sources: Literature
Genetic Epilepsy v0.2149 ECM1 Andrew Fennell gene: ECM1 was added
gene: ECM1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ECM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ECM1 were set to PMID: 11929856; 28434238
Review for gene: ECM1 was set to GREEN
Added comment: PMID: 28434238 - 4 individuals with seizures from a cohort of 16. Note, that the authors focused on long-term progress of patients with seizures and/or brain calcification and excluded from the description those without those features. This means the quoted 57% prevalence of seizures was actually 25%. Seizure types included focal & absence.

PMID: 11929856 - references to previous studies predating the molecular understanding of the disorder with seizures being a common feature.
Sources: Literature
Genetic Epilepsy v0.2149 ECHS1 Andrew Fennell gene: ECHS1 was added
gene: ECHS1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ECHS1 were set to PMID: 29575569; 35098523
Phenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277; Leigh syndrome MONDO:0009723; cerebral palsy MONDO:0006497; paroxysmal dystonia MONDO:0016058
Review for gene: ECHS1 was set to GREEN
Added comment: PMID: 29575569 - 4 of 4 patients with Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1) had seizures onset in infancy.

PMID: 35098523 - single case report of an infant with Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency with status epilepticus after propofol administration.
Sources: Literature
Genetic Epilepsy v0.2149 DOHH Andrew Fennell gene: DOHH was added
gene: DOHH was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: DOHH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOHH were set to PMID: 30661771; 35858628
Phenotypes for gene: DOHH were set to Neurodevelopmental disorder, DOHH-related (MONDO#0700092)
Review for gene: DOHH was set to GREEN
Added comment: PMID: 35858628 - three of the five reported individuals with this neurodevelopmental disorder identified to have seizures. Two individuals had febrile seizures in mid-childhood with one going on to have generalised epilepsy. A third individual had generalised epilepsy.

PMID: 30661771 - Of note, DOHH is a key part of the same two-step enzymatic pathway as DHPS which is also associated with a neurodevelopmental disorder that prominently features seizures.
Sources: Literature
Genetic Epilepsy v0.2149 DHX16 Andrew Fennell gene: DHX16 was added
gene: DHX16 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: DHX16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DHX16 were set to PMID: 31256877; 36211162
Phenotypes for gene: DHX16 were set to Neuromuscular disease and ocular or auditory anomalies with or without seizures, MIM# 618733
Review for gene: DHX16 was set to GREEN
Added comment: PMID: 31256877 - two of the four reported individuals had seizures (infantile spasms in one & GTC in one)

PMID: 36211162 - single case report of an 18-month old child with infantile spasms, likely for several months prior to presentation.
Sources: Literature
Genetic Epilepsy v0.2149 PRIMA1 Chris Ciotta gene: PRIMA1 was added
gene: PRIMA1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PRIMA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRIMA1 were set to PMID: 26339676
Phenotypes for gene: PRIMA1 were set to Frontal Lobe Epilepsy MONDO:0002612
Review for gene: PRIMA1 was set to RED
Added comment: - 2/3 siblings from unaffected parents in PMID: 26339676 were diagnosed with nocturnal frontal lobe epilepsy, which was confirmed by EEG. The affected siblings were homozygous for the c.93+2T>C variant canonical splice site variant. This variant was demonstrated by mini-gene assay to skip exon 2 of PRIMA1.

Overall 1 family, 2 individuals with epilepsy and high impact variants in PRIMA1.
Sources: Literature
Genetic Epilepsy v0.2149 POMGNT2 Chris Ciotta gene: POMGNT2 was added
gene: POMGNT2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMGNT2 were set to PMID: 36808730
Phenotypes for gene: POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 MIM#614830
Review for gene: POMGNT2 was set to RED
Added comment: This gene was included in the Genes4Epilepsy (PMID: 36808730) Gene resource and was said to be associated with developmental and epileptic encephalopathies and malformations of cortical development. In a review of the literature an association with individuals presenting with epilepsy was not found.
Sources: Literature
Genetic Epilepsy v0.2149 PLXNC1 Chris Ciotta gene: PLXNC1 was added
gene: PLXNC1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PLXNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLXNC1 were set to PMID: 36808730
Phenotypes for gene: PLXNC1 were set to Malformations of cortical development
Review for gene: PLXNC1 was set to RED
Added comment: This gene was included in the genes4epilepsy resource (PMID:36808730) and was reported as being associated with the clinical phenotype "malformations of cortical development".

There are no current PubMed articles linking this gene with epilepsy however
Sources: Literature
Genetic Epilepsy v0.2149 PRDM8 Chris Ciotta gene: PRDM8 was added
gene: PRDM8 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PRDM8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM8 were set to PMID: 2296154; 35034233
Phenotypes for gene: PRDM8 were set to ?Epilepsy, progressive myoclonic, 10 MIM#616640
Review for gene: PRDM8 was set to RED
Added comment: - PMID:22961547, 3 individuals from one family, all with myoclonic epilepsy, all had the Phe261Leu variant. This variant is absent from gnomAD V4.

- PMID: 35034233, Two individuals from one family, no clinical seizures but presented with myoclonus and abnormal EEG (generalised epileptiform charges), these individuals had the Ala230Gly missense change, which has currently been reported as a VUS.
Sources: Literature
Genetic Epilepsy v0.2149 PPP2R5D Chris Ciotta reviewed gene: PPP2R5D: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26168268, 29296277, 26576547; Phenotypes: Houge-Janssens syndrome 1 MIM#616355; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2149 PPP2R5D Chris Ciotta Deleted their review
Genetic Epilepsy v0.2149 PPP2R5D Chris Ciotta gene: PPP2R5D was added
gene: PPP2R5D was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PPP2R5D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PPP2R5D were set to Houge-Janssens syndrome 1 MIM#616355
Review for gene: PPP2R5D was set to GREEN
Added comment: - PMID:26168268, 3/11 individuals with intellectual disability also presented with epilepsy, In these three individuals two had the commonly reported pathogenic Glu198Lys variant while the third had another very well reported Glu200Lys variant.

- PMID:29296277, 2/2 individuals in this study with variants in PPP2R5D with epilepsy. Both individuals had the Glu198Lys variant.

- PMID: 26576547, 1/7 individuals with variants in this gene presented with complex partial seizures, this individual also had the Glu198Lys well reported variant.
Sources: Literature
Genetic Epilepsy v0.2149 POMK Chris Ciotta gene: POMK was added
gene: POMK was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMK were set to PMID: 24925318
Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 MIM#615249
Review for gene: POMK was set to RED
Added comment: - PMID:24925318, 1/3 unrelated individuals with bi-allelic POMK variants presented with seizures along with Cobblestone lissencephaly and hydrocephalus. This individual was compound heterozgyous for a high impact frameshift variant (c.286delT, p.F96fs) and a missense variant (c.905T>A , p.V302D).
Sources: Literature
Genetic Epilepsy v0.2149 POGZ Chris Ciotta gene: POGZ was added
gene: POGZ was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: POGZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POGZ were set to PMIS: 34645992; 31136090; 28490548; 26739615; 27824329
Phenotypes for gene: POGZ were set to White-Sutton syndrome MIM#616364
Review for gene: POGZ was set to GREEN
Added comment: - 2/12 Individuals in this in PMID:34645992 with POGZ PTVs were reported as having a history of at least 1 seizure. This information is mentioned in the article but seems to be left out in the clinical characteristics table on page 97 so we are unsure which individuals had a history of seizures.

- PMID:31136090, a de novo POGZ truncating variant (c.2711T>G; p.Leu904*) in an individual with dysmorphic features and poor tolerance to oral feeding. No family history of seizures or ID. First epileptic seizure occurred at age 2 and persisted despite clobazam. MRI at age 3 showed cortical and sub cortical atrophy and individual presented with dev delay and epileptic encephalopathy.

- PMID: 28480548, 15 year old female with healthy parents, MRI revealed global cerebellar atrophy, individual presented with dev delay and no verbal capacity, was being treated for epilepsy with medication. p.Asn941fs*3 variant was identified in this individual.

- PMID:26739615, 5 individuals with POGZ p.Ser278* variant, only 1/5 with complex, partial seizures.

- PMID:27824329, One chinese individual with autism, POGZ variant p.Gln127* who presented with seizures.

All the above variants are high impact and absent from gnomAD V4. 6 unique cases of individuals with high impact POGZ variants presenting with seizures/epilepsy.
Sources: Literature
Genetic Epilepsy v0.2149 POLG2 Zornitza Stark Marked gene: POLG2 as ready
Genetic Epilepsy v0.2149 POLG2 Zornitza Stark Gene: polg2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2149 POLG2 Zornitza Stark Classified gene: POLG2 as Amber List (moderate evidence)
Genetic Epilepsy v0.2149 POLG2 Zornitza Stark Gene: polg2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2148 POLG2 Zornitza Stark reviewed gene: POLG2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MIM#610131; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2148 PLP1 Zornitza Stark Marked gene: PLP1 as ready
Genetic Epilepsy v0.2148 PLP1 Zornitza Stark Gene: plp1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2148 PLP1 Zornitza Stark Classified gene: PLP1 as Green List (high evidence)
Genetic Epilepsy v0.2148 PLP1 Zornitza Stark Gene: plp1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2147 PLP1 Zornitza Stark Classified gene: PLP1 as Green List (high evidence)
Genetic Epilepsy v0.2147 PLP1 Zornitza Stark Gene: plp1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2146 POLG2 Chris Ciotta gene: POLG2 was added
gene: POLG2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: POLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLG2 were set to PMID: 21555342
Phenotypes for gene: POLG2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MIM#610131
Review for gene: POLG2 was set to AMBER
Added comment: PMID:21555342 reports 4/11 unrelated individuals with mitochondrial disease as presenting with seizures and heterozygous variants in POLG2, 3/4 of these individuals had missense variants. Of these variants, 2 have been reported in Clinvar as benign and have high homozygote counts in gnomAD V4. The p.P205R variant was seen in an individual with seizures and is absent from gnomAD V4 and has been reported as pathogenic once in ClinVar for MIM#610131.

The last individual with seizures had a high impact variant (p.L475DfsX2) with 3 heterozygotes in the population (V4) which has been classified as pathogenic in ClinVar.

Overall, 2/11 unrelated individuals with plausible pathogenic variants presenting with seizures.
Sources: Literature
Genetic Epilepsy v0.2146 PPFIA3 Zornitza Stark Marked gene: PPFIA3 as ready
Genetic Epilepsy v0.2146 PPFIA3 Zornitza Stark Gene: ppfia3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2146 PPFIA3 Zornitza Stark Classified gene: PPFIA3 as Green List (high evidence)
Genetic Epilepsy v0.2146 PPFIA3 Zornitza Stark Gene: ppfia3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2145 PPFIA3 Zornitza Stark gene: PPFIA3 was added
gene: PPFIA3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PPFIA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPFIA3 were set to 37034625
Phenotypes for gene: PPFIA3 were set to Neurodevelopmental disorder, MONDO:0700092, PPFIA3-related
Review for gene: PPFIA3 was set to GREEN
Added comment: 19 individuals with mono-allelic variants presenting with features including developmental delay, intellectual disability, hypotonia, micro/macrocephaly, autism, and epilepsy. One individual with compound het variants: insufficient evidence for bi-allelic variants causing disease.
Sources: Literature
Genetic Epilepsy v0.2144 PLP1 Lisa Norbart gene: PLP1 was added
gene: PLP1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: PLP1 were set to 7512350; 11071483; 21679407; 28133555; 29486744; 35346287; 37637647
Phenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher Disease, MIM#312080
Review for gene: PLP1 was set to GREEN
Added comment: PMID: 7512350 (1994) - Mouse study demonstrating that seizures and convulsions are a result of a 2-fold increased PLP gene dosage. (Cited in OMIM)

PMID: 11071483 (2000) - One family with 2x brothers affected with PMD, both developing seizures in late teens. Other symptoms in both brothers include hypotonia at birth, nystagmus, and slowly progressive spastic paraplegia. (Cited in OMIM)

PMID: 21679407 (2011) - Male cohort, 43 individuals from 38 unrelated families with a PLP1-related disorder diagnosis. Seizures present in 2/43 males (both PLP1 duplication mutations). Additional symptoms include 3/43 stridor, 4/43 developmental delay, and 18/43 muscular hypotonia.

PMID: 28133555 (2017) - Case report on 9 year old male affected with classic PMD. Presented with a history of seizures since age 4. Also presents with developmental delay, nystagmus, microcephaly, spastic quadriplegia. Maternally inherited gain of 436Kb on Xq22.2 encompassing TCEAL1,MORF4L2, PLP1, and RAB9B, of which only PLP1 is associated with a disease.

PMID: 29486744 (2018) - Case report on family diagnosed with connatal PMD (previously diagnosed as X-linked epileptic seizures). The PLP1 missense mutation p.Ala84Asp was found to segregate in the family. 1x proband presenting with daily generalised seizures, onset at 8 months and no treatment response. 2x cousins and 2x maternal uncles also presented with epilepsy, all onset around 6 months and all died in childhood. Additional symptoms include 5/5 hypotonia and 5/5 psycho-motor delay. Consanguinity reported in the family.

PMID: 35346287 (2022) - Chinese cohort of 141 patients, 111 whom were followed up with. Seizures present in 4/28 individuals with connatal PMD, including 1 patient who died due to epileptic seizures at age 7, and 4/56 individuals with transitional PMD. Additional symptoms include 111/111 development delay, 110/111 nystagmus, 93/111 hypotonia, 35/111 stridor, and 4/111 respiratory difficulty.

PMID: 37637647 (2023) - Case report on 1x newborn individual diagnosed with failure to thrive and later PMD. Presented with episodes of rapid eye and side-to-side head movement episodes of 5-10 seconds, onset one month after birth. Diagnosis of seizure disorder considered before further testing. Individual hemizygous for PLP1: c.67G>A (p.Gly23Arg), maternally inherited.

GeneReviews: Seizures may develop in infants affected by 'severe connatal PMD'.
Sources: Literature
Genetic Epilepsy v0.2144 SLC13A3 Zornitza Stark Marked gene: SLC13A3 as ready
Genetic Epilepsy v0.2144 SLC13A3 Zornitza Stark Gene: slc13a3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2144 SLC13A3 Zornitza Stark Publications for gene: SLC13A3 were set to 30635937 35527102; https://www.neurology.org/doi/full/10.1212/NXG.0000000000200101 (No PMID)
Genetic Epilepsy v0.2143 SLC13A3 Zornitza Stark Publications for gene: SLC13A3 were set to 30635937 35527102; https://www.neurology.org/doi/full/10.1212/NXG.0000000000200101 (No PMID)
Genetic Epilepsy v0.2142 SLC13A3 Zornitza Stark Publications for gene: SLC13A3 were set to https://www.neurology.org/doi/full/10.1212/NXG.0000000000200101 (No PMID)
Genetic Epilepsy v0.2141 SLC13A3 Zornitza Stark Classified gene: SLC13A3 as Green List (high evidence)
Genetic Epilepsy v0.2141 SLC13A3 Zornitza Stark Gene: slc13a3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2140 TSPYL1 Zornitza Stark Publications for gene: TSPYL1 were set to 32885560; 15273283; 33075815
Genetic Epilepsy v0.2139 CP Zornitza Stark Marked gene: CP as ready
Genetic Epilepsy v0.2139 CP Zornitza Stark Gene: cp has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2139 CP Zornitza Stark Classified gene: CP as Amber List (moderate evidence)
Genetic Epilepsy v0.2139 CP Zornitza Stark Gene: cp has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2138 SLC13A3 Daniel Flanagan gene: SLC13A3 was added
gene: SLC13A3 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SLC13A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC13A3 were set to https://www.neurology.org/doi/full/10.1212/NXG.0000000000200101 (No PMID)
Phenotypes for gene: SLC13A3 were set to Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384)
Review for gene: SLC13A3 was set to GREEN
Added comment: Seven patients reported with biallelic SLC13A3 variants, causing acute reversible leukoencephalopathy and α-ketoglutarate accumulation. Patients presented with acute neurological deterioration after a febrile illness. 5/7 with ataxia, 4/7 had seizures, 1/7 developmental delay.
Sources: Expert list
Genetic Epilepsy v0.2138 TSPYL1 Lilian Downie reviewed gene: TSPYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36082874; Phenotypes: Sudden infant death with dysgenesis of the testes syndrome MIM#608800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2138 CP Lilian Downie gene: CP was added
gene: CP was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CP were set to PMID: 32741407, PMID: 18200628
Phenotypes for gene: CP were set to Hemosiderosis, systemic, due to aceruloplasminemia MIM#604290
Review for gene: CP was set to AMBER
Added comment: Reports of patients x3 with seizures as part of this phenotype.
***This is an adult onset brain iron accumulation neurodegenerative disorder***
Sources: Expert list
Genetic Epilepsy v0.2138 COQ8A Zornitza Stark Marked gene: COQ8A as ready
Genetic Epilepsy v0.2138 COQ8A Zornitza Stark Gene: coq8a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2138 COQ8A Zornitza Stark Classified gene: COQ8A as Green List (high evidence)
Genetic Epilepsy v0.2138 COQ8A Zornitza Stark Gene: coq8a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2137 COQ8A Zornitza Stark Classified gene: COQ8A as Green List (high evidence)
Genetic Epilepsy v0.2137 COQ8A Zornitza Stark Gene: coq8a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2136 COQ8A Lilian Downie gene: COQ8A was added
gene: COQ8A was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ8A were set to PMID 32337771
Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4 MIM#612016
Review for gene: COQ8A was set to GREEN
Added comment: PMID 32337771: cohort of 59 individuals. COQ8A-ataxia presented as variable multisystemic, early-onset cerebellar ataxia, with complicating features ranging from epilepsy (32%) and cognitive impairment (49%) to exercise intolerance (25%) and hyperkinetic movement disorders (41%), including dystonia and myoclonus as presenting symptoms.
Sources: Expert list
Genetic Epilepsy v0.2136 CENPF Zornitza Stark Marked gene: CENPF as ready
Genetic Epilepsy v0.2136 CENPF Zornitza Stark Gene: cenpf has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2136 CENPF Zornitza Stark Publications for gene: CENPF were set to
Genetic Epilepsy v0.2135 CENPF Zornitza Stark Classified gene: CENPF as Red List (low evidence)
Genetic Epilepsy v0.2135 CENPF Zornitza Stark Gene: cenpf has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2134 CDK5 Zornitza Stark Marked gene: CDK5 as ready
Genetic Epilepsy v0.2134 CDK5 Zornitza Stark Gene: cdk5 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2134 CDK5 Zornitza Stark Classified gene: CDK5 as Amber List (moderate evidence)
Genetic Epilepsy v0.2134 CDK5 Zornitza Stark Gene: cdk5 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2133 CDK13 Zornitza Stark Marked gene: CDK13 as ready
Genetic Epilepsy v0.2133 CDK13 Zornitza Stark Gene: cdk13 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2133 CDK13 Zornitza Stark Classified gene: CDK13 as Green List (high evidence)
Genetic Epilepsy v0.2133 CDK13 Zornitza Stark Gene: cdk13 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2132 CCND2 Zornitza Stark Classified gene: CCND2 as Red List (low evidence)
Genetic Epilepsy v0.2132 CCND2 Zornitza Stark Gene: ccnd2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2131 CCND2 Zornitza Stark Marked gene: CCND2 as ready
Genetic Epilepsy v0.2131 CCND2 Zornitza Stark Gene: ccnd2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2131 CCND2 Zornitza Stark Classified gene: CCND2 as Red List (low evidence)
Genetic Epilepsy v0.2131 CCND2 Zornitza Stark Gene: ccnd2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2130 COL3A1 Lilian Downie gene: COL3A1 was added
gene: COL3A1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: COL3A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL3A1 were set to PMID: 28258187, PMID: 37393059, PMID: 28742248, PMID: 22235340
Phenotypes for gene: COL3A1 were set to Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343
Review for gene: COL3A1 was set to GREEN
Added comment: PMID: 37393059: 1 family with 2 sibs with epilepsy homozygous VUS variants in COL3A1
PMID: 28742248 1 family 2 sibs with seizures ID and biallelic variants in COL3A1
PMID: 22235340 mouse model with seizures
Sources: Expert list
Genetic Epilepsy v0.2130 CHD1 Lilian Downie gene: CHD1 was added
gene: CHD1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: CHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD1 were set to 28866611
Phenotypes for gene: CHD1 were set to Pilarowski-Bjornsson syndrome, MIM#617682
Review for gene: CHD1 was set to GREEN
Added comment: 3/6 seizures
Sources: Expert list
Genetic Epilepsy v0.2130 CENPF Lilian Downie edited their review of gene: CENPF: Changed publications: PMID: 35488810; Changed phenotypes: Stromme syndrome MIM#243605
Genetic Epilepsy v0.2130 CENPF Lilian Downie changed review comment from: No reports of seizures in this phenotype
Sources: Expert list; to: No reports of seizures in this phenotype or in the microcephaly phenotype described
Sources: Expert list
Genetic Epilepsy v0.2130 CENPF Lilian Downie gene: CENPF was added
gene: CENPF was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CENPF were set to Stromme syndrome MIM#243605
Review for gene: CENPF was set to RED
Added comment: No reports of seizures in this phenotype
Sources: Expert list
Genetic Epilepsy v0.2130 CDK5 Lilian Downie gene: CDK5 was added
gene: CDK5 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: CDK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK5 were set to 25560765
Phenotypes for gene: CDK5 were set to Lissencephaly 7 with cerebellar hypoplasia MIM#616342
Review for gene: CDK5 was set to AMBER
Added comment: Single family multiple affected individuals, early onset seizures with burst supression pattern on EEG part of the phenotype
Sources: Expert list
Genetic Epilepsy v0.2130 CDK13 Lilian Downie gene: CDK13 was added
gene: CDK13 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: CDK13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDK13 were set to PMID: 29021403, PMID: 35063350
Phenotypes for gene: CDK13 were set to Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder MIM#617360
Review for gene: CDK13 was set to GREEN
Added comment: PMID: 29021403 4/16 had seizures
PMID: 35063350 1 with seizures
Sources: Expert list
Genetic Epilepsy v0.2130 CCND2 Lilian Downie gene: CCND2 was added
gene: CCND2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: CCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCND2 were set to PMID: 24705253
Phenotypes for gene: CCND2 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 MIM#615938
Review for gene: CCND2 was set to RED
Added comment: seizures not reported in MPPH due to this gene to date
Sources: Expert list
Genetic Epilepsy v0.2130 PIGF Zornitza Stark Marked gene: PIGF as ready
Genetic Epilepsy v0.2130 PIGF Zornitza Stark Gene: pigf has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2130 PIGF Zornitza Stark Classified gene: PIGF as Red List (low evidence)
Genetic Epilepsy v0.2130 PIGF Zornitza Stark Gene: pigf has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2129 PEX26 Zornitza Stark Marked gene: PEX26 as ready
Genetic Epilepsy v0.2129 PEX26 Zornitza Stark Gene: pex26 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2129 PEX26 Zornitza Stark Classified gene: PEX26 as Green List (high evidence)
Genetic Epilepsy v0.2129 PEX26 Zornitza Stark Gene: pex26 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2128 PEX26 Zornitza Stark reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 7A (Zellweger), MIM#614872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2128 PEX2 Zornitza Stark Marked gene: PEX2 as ready
Genetic Epilepsy v0.2128 PEX2 Zornitza Stark Gene: pex2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2128 PEX2 Zornitza Stark Classified gene: PEX2 as Green List (high evidence)
Genetic Epilepsy v0.2128 PEX2 Zornitza Stark Gene: pex2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2127 PEX2 Zornitza Stark Classified gene: PEX2 as Green List (high evidence)
Genetic Epilepsy v0.2127 PEX2 Zornitza Stark Gene: pex2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2126 PEX2 Zornitza Stark reviewed gene: PEX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 5A (Zellweger), MIM#614866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2126 NAA10 Zornitza Stark Phenotypes for gene: NAA10 were changed from Microphthalmia, syndromic 1, MIM# 309800; NAA10-related syndrome; Seizures to NAA10-related syndrome MONDO:0100124
Genetic Epilepsy v0.2125 NAA10 Zornitza Stark Publications for gene: NAA10 were set to 11426460
Genetic Epilepsy v0.2124 NAA10 Zornitza Stark Classified gene: NAA10 as Green List (high evidence)
Genetic Epilepsy v0.2124 NAA10 Zornitza Stark Gene: naa10 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2123 LSS Zornitza Stark Marked gene: LSS as ready
Genetic Epilepsy v0.2123 LSS Zornitza Stark Gene: lss has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2123 LSS Zornitza Stark Classified gene: LSS as Green List (high evidence)
Genetic Epilepsy v0.2123 LSS Zornitza Stark Gene: lss has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2122 RPS6KA3 Zornitza Stark Marked gene: RPS6KA3 as ready
Genetic Epilepsy v0.2122 RPS6KA3 Zornitza Stark Gene: rps6ka3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2122 RPS6KA3 Zornitza Stark Classified gene: RPS6KA3 as Green List (high evidence)
Genetic Epilepsy v0.2122 RPS6KA3 Zornitza Stark Gene: rps6ka3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2121 RERE Zornitza Stark Marked gene: RERE as ready
Genetic Epilepsy v0.2121 RERE Zornitza Stark Gene: rere has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2121 RERE Zornitza Stark Classified gene: RERE as Green List (high evidence)
Genetic Epilepsy v0.2121 RERE Zornitza Stark Gene: rere has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2120 RAPGEF2 Zornitza Stark Tag STR tag was added to gene: RAPGEF2.
Genetic Epilepsy v0.2120 RANBP2 Zornitza Stark Marked gene: RANBP2 as ready
Genetic Epilepsy v0.2120 RANBP2 Zornitza Stark Gene: ranbp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2120 RANBP2 Zornitza Stark Classified gene: RANBP2 as Green List (high evidence)
Genetic Epilepsy v0.2120 RANBP2 Zornitza Stark Gene: ranbp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2119 PTBP1 Zornitza Stark Marked gene: PTBP1 as ready
Genetic Epilepsy v0.2119 PTBP1 Zornitza Stark Gene: ptbp1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2119 PTBP1 Zornitza Stark Classified gene: PTBP1 as Red List (low evidence)
Genetic Epilepsy v0.2119 PTBP1 Zornitza Stark Gene: ptbp1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2118 RAI1 Zornitza Stark Marked gene: RAI1 as ready
Genetic Epilepsy v0.2118 RAI1 Zornitza Stark Gene: rai1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2118 RAI1 Zornitza Stark Classified gene: RAI1 as Green List (high evidence)
Genetic Epilepsy v0.2118 RAI1 Zornitza Stark Gene: rai1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2117 RAB39B Zornitza Stark Marked gene: RAB39B as ready
Genetic Epilepsy v0.2117 RAB39B Zornitza Stark Gene: rab39b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2117 RAB39B Zornitza Stark Classified gene: RAB39B as Green List (high evidence)
Genetic Epilepsy v0.2117 RAB39B Zornitza Stark Gene: rab39b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2116 CCDC88C Zornitza Stark Marked gene: CCDC88C as ready
Genetic Epilepsy v0.2116 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2116 CCDC88C Zornitza Stark Classified gene: CCDC88C as Green List (high evidence)
Genetic Epilepsy v0.2116 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2115 CCDC22 Zornitza Stark Marked gene: CCDC22 as ready
Genetic Epilepsy v0.2115 CCDC22 Zornitza Stark Gene: ccdc22 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2115 CCDC22 Zornitza Stark Classified gene: CCDC22 as Red List (low evidence)
Genetic Epilepsy v0.2115 CCDC22 Zornitza Stark Gene: ccdc22 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2114 PIGF Lisa Norbart gene: PIGF was added
gene: PIGF was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PIGF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGF were set to 33386993
Phenotypes for gene: PIGF were set to Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM#619356
Review for gene: PIGF was set to RED
Added comment: PMID: 33386993 (2021) - The same homozygous missense mutation (p.Pro172Arg) in 2x unrelated individuals affected with DOORS syndrome (without deafness). 1/2 presented with generalised tonic-clonic seizues and 1/2 with tonic posturing.
Sources: Literature
Genetic Epilepsy v0.2114 PEX26 Lisa Norbart gene: PEX26 was added
gene: PEX26 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX26 were set to 34430430; 28823628
Phenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7A (Zellweger), MIM#614872
Review for gene: PEX26 was set to AMBER
Added comment: PMID: 34430430 (2021) - Case report on 1 infant with a homozygous frameshift variant and Zellweger Syndrome diagnosis. Presented with an epileptic seizure at 8 months old and focal seizures during sleep, died at 9 months old. Also described a literature review resulting in 1/4 previously reported infants with Zellweger Syndrome presenting with seizures, described below.

PMID: 28823628 (2017) - Case report on 1 infant with a homozygous missense variant and Zellweger Syndrome diagnosis. Developed tonic-clonic jerking of extremities.

GeneReviews: Seizures can be a symptom of Zellweger Syndrome in newborns (caused by underlying neuronal migration defects).
Sources: Literature
Genetic Epilepsy v0.2114 PEX2 Lisa Norbart gene: PEX2 was added
gene: PEX2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX2 were set to 14630978; 23430938; 17041890
Phenotypes for gene: PEX2 were set to Peroxisome biogenesis disorder 5A (Zellweger), MIM#614866
Review for gene: PEX2 was set to AMBER
Added comment: PMID: 14630978 (2004) - 3 individuals with homozygous missense mutations and diagnosed with Zellweger syndrome. 1/3 presented with generalised seizures for which treatment was not effective. 2/3 had no seizures.

PMID: 23430938 (2012) - 1 individual with compound heterozygous nonsense mutations affected with mild Zellweger Syndrome, did not present with seizures.

PMID: 17041890 (2006) - 3/3 individuals with homozygous PEX2 nonsense/frameshift variants affected with Zellweger Syndrome. 2/3 presented with seizures, died at <6 months old.

GeneReviews: Seizures can be a symptom of Zellweger Syndrome in newborns (caused by underlying neuronal migration defects).
Sources: Literature
Genetic Epilepsy v0.2114 PUS3 Zornitza Stark Marked gene: PUS3 as ready
Genetic Epilepsy v0.2114 PUS3 Zornitza Stark Gene: pus3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2114 PUS3 Zornitza Stark Phenotypes for gene: PUS3 were changed from Mental retardation, autosomal recessive 55, MIM# 617051 to Neurodevelopmental disorder with microcephaly and gray sclerae, MIM# 617051
Genetic Epilepsy v0.2113 PUS3 Zornitza Stark Classified gene: PUS3 as Green List (high evidence)
Genetic Epilepsy v0.2113 PUS3 Zornitza Stark Gene: pus3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2112 NAA10 Rylee Peters reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 37130971; Phenotypes: NAA10-related syndrome MONDO:0100124; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.2112 LSS Rylee Peters changed review comment from: PMID: 30723320 - Cohort of 11 individuals from 7 unrelated families; all affected with alopecia, scaly skin, other ectodermal abnormalities, variable MRI abnormalities and neurological symptoms. All affected individuals (except 1x individual with a single missense variant and an allelic imbalance) were hom/compound het, whilst heterozygous carriers, for all the families, were asymptomatic. Epilepsy was reported in 7/11 individuals (Table 1).

PMID: 37157980 - Four-year-old male with global developmental delay, epilepsy and striking alopecia; identified novel compound heterozygous LSS splice site (c.14+2T>C) and missense (c.1357 G>A; p.V453L) variants. Presented with myoclonic epilepsy at 14 months.

Note: PanelApp UK has this gene rating as amber based on advice from Genomics England Clinical Team and West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group.
Sources: Literature; to: PMID: 30723320 - Cohort of 11 individuals from 7 unrelated families; all affected with alopecia, scaly skin, other ectodermal abnormalities, variable MRI abnormalities and neurological symptoms. All affected individuals (except 1x individual with a single missense variant and an allelic imbalance) were hom/compound het, whilst heterozygous carriers, for all the families, were asymptomatic. Epilepsy was reported in 7/11 individuals (Table 1).

PMID: 37157980 - Four-year-old male with global developmental delay, epilepsy and striking alopecia; identified novel compound heterozygous LSS splice site (c.14+2T>C) and missense (c.1357 G>A; p.V453L) variants. Presented with myoclonic epilepsy at 14 months.

Note: PanelApp UK has this gene rating as amber based on advice from Genomics England Clinical Team and West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group.
Sources: Literature
Genetic Epilepsy v0.2112 LSS Rylee Peters gene: LSS was added
gene: LSS was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSS were set to PMID: 30723320; 37157980
Phenotypes for gene: LSS were set to Alopecia-intellectual disability syndrome 4, MIM#618840
Review for gene: LSS was set to GREEN
Added comment: PMID: 30723320 - Cohort of 11 individuals from 7 unrelated families; all affected with alopecia, scaly skin, other ectodermal abnormalities, variable MRI abnormalities and neurological symptoms. All affected individuals (except 1x individual with a single missense variant and an allelic imbalance) were hom/compound het, whilst heterozygous carriers, for all the families, were asymptomatic. Epilepsy was reported in 7/11 individuals (Table 1).

PMID: 37157980 - Four-year-old male with global developmental delay, epilepsy and striking alopecia; identified novel compound heterozygous LSS splice site (c.14+2T>C) and missense (c.1357 G>A; p.V453L) variants. Presented with myoclonic epilepsy at 14 months.

Note: PanelApp UK has this gene rating as amber based on advice from Genomics England Clinical Team and West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group.
Sources: Literature
Genetic Epilepsy v0.2112 RPS6KA3 Belinda Chong gene: RPS6KA3 was added
gene: RPS6KA3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RPS6KA3 were set to 12210291; 6879200
Phenotypes for gene: RPS6KA3 were set to Coffin-Lowry syndrome MIM# 303600; Intellectual disability; short stature; delayed bone age; hearing deficit; hypotonia; tapering fingers; abnormal facies (hypertelorism, anteverted nares, prominent frontal region)
Review for gene: RPS6KA3 was set to GREEN
gene: RPS6KA3 was marked as current diagnostic
Added comment: Seizures is a feature in Coffin-Lowry syndrome individuals.
Sources: Literature
Genetic Epilepsy v0.2112 RERE Belinda Chong gene: RERE was added
gene: RERE was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: RERE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RERE were set to 30896913; 27087320; 23451234; 30558068
Phenotypes for gene: RERE were set to Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975
Review for gene: RERE was set to GREEN
gene: RERE was marked as current diagnostic
Added comment: Seizure is a feature
Sources: Literature
Genetic Epilepsy v0.2112 RAPGEF2 Belinda Chong gene: RAPGEF2 was added
gene: RAPGEF2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: RAPGEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAPGEF2 were set to 37021642; 30351492; 29507423
Phenotypes for gene: RAPGEF2 were set to ?Epilepsy, familial adult myoclonic, 7 MIM# 618075
Review for gene: RAPGEF2 was set to RED
Added comment: Heterozygous 5-bp repeat expansion (TTTCA(n)) in intron 14 of RAPGEF2 gene. Two individuals previously reported (PMID: 30351492 and 29507423) with seizures
Sources: Literature
Genetic Epilepsy v0.2112 RANBP2 Belinda Chong gene: RANBP2 was added
gene: RANBP2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: RANBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RANBP2 were set to 32426208; 35485383; 33777149; 19118815; 25128471; 25522933; 32048120
Phenotypes for gene: RANBP2 were set to {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033
Review for gene: RANBP2 was set to GREEN
gene: RANBP2 was marked as current diagnostic
Added comment: Individuals have seizures
Sources: Literature
Genetic Epilepsy v0.2112 PTBP1 Belinda Chong gene: PTBP1 was added
gene: PTBP1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PTBP1 was set to Unknown
Review for gene: PTBP1 was set to RED
Added comment: No evidence for Mendelian disease association. In Oliver's Gene list.
Sources: Literature
Genetic Epilepsy v0.2112 RAI1 Belinda Chong gene: RAI1 was added
gene: RAI1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: RAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAI1 were set to 36256819; 11404004; 12652298; 15788730
Phenotypes for gene: RAI1 were set to Smith-Magenis syndrome MIM#182290
Review for gene: RAI1 was set to GREEN
gene: RAI1 was marked as current diagnostic
Added comment: PMID 36256819: Spontaneous seizures have been detected in 30% of Rai1−/− mice and SMS patients

PMID: 16566870: Considering that close to one third of individuals with Smith-Magenis syndrome with epileptiform abnormalities also had a history of clinical seizures, cortical hyperexcitability and epilepsy should be considered an important component of the Smith-Magenis syndrome clinical phenotype.
Sources: Literature
Genetic Epilepsy v0.2112 RAB39B Belinda Chong gene: RAB39B was added
gene: RAB39B was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RAB39B were set to 4025396; 11050621; 20159109
Phenotypes for gene: RAB39B were set to Intellectual developmental disorder, X-linked 72 MIM#300271; Waisman syndrome MIM#311510
Review for gene: RAB39B was set to GREEN
Added comment: Seizures observed in most individuals.
Sources: Literature
Genetic Epilepsy v0.2112 CCDC88C Lilian Downie gene: CCDC88C was added
gene: CCDC88C was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: CCDC88C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC88C were set to PMID: 29341397, PMID: 23042809, PMID: 21031079
Phenotypes for gene: CCDC88C were set to Hydrocephalus, congenital, 1 MIM#236600
Review for gene: CCDC88C was set to GREEN
Added comment: 3 independant families with seizures reported as a feature, onset between birth and 2 years. Focal and tonic clonic. Summary table in PMID: 29341397.
Sources: Expert list
Genetic Epilepsy v0.2112 CCDC22 Lilian Downie gene: CCDC22 was added
gene: CCDC22 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: CCDC22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CCDC22 were set to PMID: 34020006
Phenotypes for gene: CCDC22 were set to Ritscher-Schinzel syndrome 2 MIM#300963
Review for gene: CCDC22 was set to RED
Added comment: X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities

Reviewed as on a research epilepsy gene list

PMID: 34020006 patient with epileptic encephalopathy but they had a missense variant VUS - segregated only in healthy mother and grandmother, no healthy males tested, maternal uncle deceased but wasn't tested. Didn't have the typical features of the condition (no posterior fossa anomalies or cardiac malformations).
Sources: Expert list
Genetic Epilepsy v0.2112 PUS3 Belinda Chong gene: PUS3 was added
gene: PUS3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PUS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS3 were set to 36125428; 30308082; 28454995; 27055666; 30697592; 31444731
Phenotypes for gene: PUS3 were set to Mental retardation, autosomal recessive 55, MIM# 617051
Review for gene: PUS3 was set to GREEN
gene: PUS3 was marked as current diagnostic
Added comment: Most affected individuals have seizures; some may have brain imaging abnormalities
Sources: Literature
Genetic Epilepsy v0.2112 ALG8 Zornitza Stark Publications for gene: ALG8 were set to 26066342
Genetic Epilepsy v0.2111 OCRL Zornitza Stark Marked gene: OCRL as ready
Genetic Epilepsy v0.2111 OCRL Zornitza Stark Gene: ocrl has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2111 OCRL Zornitza Stark Classified gene: OCRL as Red List (low evidence)
Genetic Epilepsy v0.2111 OCRL Zornitza Stark Gene: ocrl has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2110 CAMTA1 Zornitza Stark Marked gene: CAMTA1 as ready
Genetic Epilepsy v0.2110 CAMTA1 Zornitza Stark Gene: camta1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2110 CAMTA1 Zornitza Stark Classified gene: CAMTA1 as Red List (low evidence)
Genetic Epilepsy v0.2110 CAMTA1 Zornitza Stark Gene: camta1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2109 C19orf12 Zornitza Stark Marked gene: C19orf12 as ready
Genetic Epilepsy v0.2109 C19orf12 Zornitza Stark Gene: c19orf12 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2109 C19orf12 Zornitza Stark Classified gene: C19orf12 as Red List (low evidence)
Genetic Epilepsy v0.2109 C19orf12 Zornitza Stark Gene: c19orf12 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2108 PDE2A Zornitza Stark Marked gene: PDE2A as ready
Genetic Epilepsy v0.2108 PDE2A Zornitza Stark Gene: pde2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2108 PDE2A Zornitza Stark Classified gene: PDE2A as Green List (high evidence)
Genetic Epilepsy v0.2108 PDE2A Zornitza Stark Gene: pde2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2107 PDE2A Zornitza Stark reviewed gene: PDE2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with paroxysmal dyskinesia or seizures MIM#619150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2107 PDCD10 Zornitza Stark Marked gene: PDCD10 as ready
Genetic Epilepsy v0.2107 PDCD10 Zornitza Stark Gene: pdcd10 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2107 PDCD10 Zornitza Stark Classified gene: PDCD10 as Green List (high evidence)
Genetic Epilepsy v0.2107 PDCD10 Zornitza Stark Gene: pdcd10 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2106 PDCD10 Zornitza Stark reviewed gene: PDCD10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral cavernous malformations-3 MIM#603285; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2106 OGT Zornitza Stark edited their review of gene: OGT: Changed rating: GREEN
Genetic Epilepsy v0.2106 OGT Zornitza Stark edited their review of gene: OGT: Changed rating: RED
Genetic Epilepsy v0.2106 ODC1 Zornitza Stark Publications for gene: ODC1 were set to PMID:30475435; 30239107
Genetic Epilepsy v0.2105 ODC1 Zornitza Stark edited their review of gene: ODC1: Changed rating: RED
Genetic Epilepsy v0.2105 PAK2 Zornitza Stark Marked gene: PAK2 as ready
Genetic Epilepsy v0.2105 PAK2 Zornitza Stark Gene: pak2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2105 PAK2 Zornitza Stark Classified gene: PAK2 as Red List (low evidence)
Genetic Epilepsy v0.2105 PAK2 Zornitza Stark Gene: pak2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2104 PRICKLE2 Zornitza Stark changed review comment from: LIMITED by ClinGen.; to: LIMITED by ClinGen, however experimental evidence appears not to have been considered.
Genetic Epilepsy v0.2104 PRICKLE2 Zornitza Stark Phenotypes for gene: PRICKLE2 were changed from Neurodevelopmental disorder; global developmental delay; behavioural difficulties ± epilepsy; autistic features; attention deficit hyperactive disorder; psychiatric symptoms to Neurodevelopmental disorder MONDO:0700092, PRICKLE2-related
Genetic Epilepsy v0.2103 PRICKLE2 Zornitza Stark Publications for gene: PRICKLE2 were set to 34092786
Genetic Epilepsy v0.2102 PRICKLE2 Zornitza Stark Classified gene: PRICKLE2 as Amber List (moderate evidence)
Genetic Epilepsy v0.2102 PRICKLE2 Zornitza Stark Gene: prickle2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2101 PRICKLE2 Zornitza Stark edited their review of gene: PRICKLE2: Added comment: LIMITED by ClinGen.; Changed rating: AMBER
Genetic Epilepsy v0.2101 PRICKLE1 Zornitza Stark Classified gene: PRICKLE1 as Red List (low evidence)
Genetic Epilepsy v0.2101 PRICKLE1 Zornitza Stark Gene: prickle1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2100 PRICKLE1 Zornitza Stark edited their review of gene: PRICKLE1: Changed rating: RED
Genetic Epilepsy v0.2100 PRICKLE1 Zornitza Stark changed review comment from: LIMITED by ClinGen for PME, and DISPUTED for epilepsy.; to: LIMITED by ClinGen for AR PME, and DISPUTED for AD epilepsy.
Genetic Epilepsy v0.2100 PRICKLE1 Zornitza Stark commented on gene: PRICKLE1: LIMITED by ClinGen for PME, and DISPUTED for epilepsy.
Genetic Epilepsy v0.2100 PRICKLE1 Zornitza Stark edited their review of gene: PRICKLE1: Added comment: Note ClinVar submissions for this gene are all VOUS/LB/B.; Changed rating: AMBER
Genetic Epilepsy v0.2100 PGM3 Zornitza Stark Phenotypes for gene: PGM3 were changed from Idiopathic focal epilepsy to Idiopathic focal epilepsy; Immunodeficiency 23, MIM# 615816
Genetic Epilepsy v0.2099 PGM3 Zornitza Stark Mode of inheritance for gene: PGM3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.2098 ALG8 Rylee Peters reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 35716054; Phenotypes: Congenital disorder of glycosylation, type Ih, MIM# 608104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2098 OCRL Lauren Rogers gene: OCRL was added
gene: OCRL was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OCRL were set to 35919034
Phenotypes for gene: OCRL were set to Lowe syndrome MIM#309000
Review for gene: OCRL was set to RED
Added comment: PMID: 35919034: In a cohort of 83 Chinese individuals with Lowes syndrome or Dent-2 disease, 1/48 individuals with Lowes syndrome had epilepsy, developmental delay and intellectual disability with a maternally inherited p.R678X variant.
Sources: Literature
Genetic Epilepsy v0.2098 PANK2 Elena Savva Classified gene: PANK2 as Red List (low evidence)
Genetic Epilepsy v0.2098 PANK2 Elena Savva Gene: pank2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2098 PANK2 Elena Savva Classified gene: PANK2 as Red List (low evidence)
Genetic Epilepsy v0.2098 PANK2 Elena Savva Gene: pank2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2097 PANK2 Elena Savva Classified gene: PANK2 as Red List (low evidence)
Genetic Epilepsy v0.2097 PANK2 Elena Savva Gene: pank2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2097 PANK2 Elena Savva Marked gene: PANK2 as ready
Genetic Epilepsy v0.2097 PANK2 Elena Savva Gene: pank2 has been removed from the panel.
Genetic Epilepsy v0.2097 OGT Elena Savva Publications for gene: OGT were set to PMID: 28302723; 28584052; 31296563; 31627256; 29769320; 29606577
Genetic Epilepsy v0.2096 CAMTA1 Lilian Downie gene: CAMTA1 was added
gene: CAMTA1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CAMTA1 were set to PMID: 31957018
Phenotypes for gene: CAMTA1 were set to Cerebellar dysfunction with variable cognitive and behavioral abnormalities MIM#614756
Review for gene: CAMTA1 was set to RED
Added comment: PMID: 31957018 sequencing in an epilepsy cohort - if negative looked at 'candidate epilepy genes', variant identified in CAMTA1 in patient with infantile spasms, refractory epilepsy, dev delay and corticovisual impairment.
Sources: Expert list
Genetic Epilepsy v0.2096 C19orf12 Lilian Downie gene: C19orf12 was added
gene: C19orf12 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: C19orf12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: C19orf12 were set to Neurodegeneration with brain iron accumulation 4 MIM#614298
Review for gene: C19orf12 was set to RED
Added comment: Review of literature, no evidence of seizures as part of the phenotype with this gene
Sources: Expert list
Genetic Epilepsy v0.2096 PDE2A Lauren Rogers gene: PDE2A was added
gene: PDE2A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PDE2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE2A were set to 32467598; 32196122; 37317634
Phenotypes for gene: PDE2A were set to Intellectual developmental disorder with paroxysmal dyskinesia or seizures MIM#619150
Review for gene: PDE2A was set to AMBER
Added comment: PMID: 32467598: In a case report of 2 unrelated families with childhood-onset refractory paroxysmal dyskinesia with cognitive impairment, one family had two affected siblings who had a homozygous p.(Gln394*) variant. The younger sibling having epilepsy (unclear in the other sibling).

PMID: 32196122: A case report of 2 affected individuals from a consanguineous Iraqi family presenting with the atypical Rett phenotype with a homozygous c.323 + 1G > A variant. Both had epilepsy.

PMID: 37317634: 6 Pakistani individuals from 3 families with paroxysmal dyskinesia, developmental delay, cognitive abnormalities, speech impairment, and seizures with variable disease onset. Seizures included tonic clonic/generalised, upper limb only or myoclonic pattern/focal seizures. All individuals had the same homozygous missense variant p.(Phe505Ser), called a founder variant.
Sources: Literature
Genetic Epilepsy v0.2096 PDCD10 Lauren Rogers gene: PDCD10 was added
gene: PDCD10 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PDCD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PDCD10 were set to 25354366; 26246098
Phenotypes for gene: PDCD10 were set to Cerebral cavernous malformations-3 MIM#603285
Review for gene: PDCD10 was set to AMBER
Added comment: PMID: 25354366: in a cohort of 11 Italian individuals with multiple/familial cerebral cavernous malformations, and PDCD10 variants, 4 individuals had seizures, including left-sided focal sensory-motor seizures. The associated variants were a de novo p.(R35X) variant, c.376_380del; 392_393ins, p.(E54X) and a whole gene deletion. The father with the whole gene deletion had a child with the variant who does not have seizures.

PMID: 26246098: A case report of an Italian family with three individuals (2x sisters and daughter) with cerebral cavernous malformations associated with meningioma. They had a a p.(Gln112PhefsX13) variant. The daughter had a severe form of epilepsy and both sisters had seizures.
Sources: Literature
Genetic Epilepsy v0.2096 PANK2 Lauren Rogers gene: PANK2 was added
gene: PANK2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PANK2 were set to 27303611; 18462962
Phenotypes for gene: PANK2 were set to Neurodegeneration with brain iron accumulation 1 MIM#234200
Review for gene: PANK2 was set to RED
Added comment: PMID: 27303611: A case report of 1x child with neurodegeneration with brain iron accumulation 1, with seizure onset age 4 with frequent falls, not gaining milestones, progressive muscle dystonia, neuro-regression, and multiple injury marks of different stages. They had 2nd degree consanguineous parents. They were compound heterozygous for p.(Leu385CysfsX13) and p.(Arg440Pro).

PMID: 18462962: A case report of 1x child neurodegeneration with brain iron accumulation 1, with refractory severe dystonia resulting in essentially complete loss of motor control, and an episode of a reported single generalized tonic clonic seizure. They were homozygous for a p.(Ala382Val)
Sources: Literature
Genetic Epilepsy v0.2096 OGT Lauren Rogers reviewed gene: OGT: Rating: RED; Mode of pathogenicity: None; Publications: 29769320, 37334838; Phenotypes: Intellectual developmental disorder, X-linked 106 MIM#300997; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.2096 PRICKLE1 Elena Savva Publications for gene: PRICKLE1 were set to 34597683; 30564977; 30345727; 29790814; 26727662; 31035234
Genetic Epilepsy v0.2096 PRICKLE1 Elena Savva Classified gene: PRICKLE1 as Amber List (moderate evidence)
Genetic Epilepsy v0.2096 PRICKLE1 Elena Savva Gene: prickle1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2095 PGM3 Elena Savva Publications for gene: PGM3 were set to 33193641
Genetic Epilepsy v0.2094 ODC1 Lauren Rogers reviewed gene: ODC1: Rating: RED; Mode of pathogenicity: None; Publications: 34477286; Phenotypes: Bachmann-Bupp syndrome MIM#619075; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2094 PAK2 Lauren Rogers gene: PAK2 was added
gene: PAK2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PAK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAK2 were set to 33693784
Phenotypes for gene: PAK2 were set to Knobloch 2 syndrome MIM#618458
Review for gene: PAK2 was set to RED
Added comment: Antonarakis et al., 2021 (PMID: 33693784) reported two affected siblings from a non-consanguineous New Zealand family. Both had retinal detachment and interstitial parenchymal pulmonary changes on chest X-rays, but only one child had additional significant features such as cataract, posterior encephalocele, severe DD/ID with ASD, and epilepsy. WES revealed a heterozygous PAK2 variant (c.1303 G>A, p.Glu435Lys) in both individuals that apparently occurred de novo indicating parental germ-line mosaicism; however, mosaicism could not be detected by deep sequencing of blood parental DNA. Functional studies showed that the variant, located in the kinase domain, results in a partial loss of the kinase activity.
Sources: Literature
Genetic Epilepsy v0.2094 RALGAPB Lisa Norbart reviewed gene: RALGAPB: Rating: AMBER; Mode of pathogenicity: None; Publications: 32853829; Phenotypes: Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genetic Epilepsy v0.2094 RBL2 Lisa Norbart reviewed gene: RBL2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2094 PRICKLE2 Lisa Norbart reviewed gene: PRICKLE2: Rating: AMBER; Mode of pathogenicity: None; Publications: 34092786, 21276947, 26942291, 26942292; Phenotypes: Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genetic Epilepsy v0.2094 PRICKLE1 Lisa Norbart reviewed gene: PRICKLE1: Rating: AMBER; Mode of pathogenicity: None; Publications: 18976727, 30564977; Phenotypes: Epilepsy, progressive myoclonic 1B, MIM# 612437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2094 PPP1CB Lisa Norbart reviewed gene: PPP1CB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome-like disorder with loose anagen hair 2 MIM#617506; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genetic Epilepsy v0.2094 PGM3 Lisa Norbart reviewed gene: PGM3: Rating: AMBER; Mode of pathogenicity: None; Publications: 24589341; Phenotypes: Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2094 OTUD7A Lisa Norbart reviewed gene: OTUD7A: Rating: AMBER; Mode of pathogenicity: None; Publications: 31997314, 29395075, 29395074, 33381903; Phenotypes: Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2094 PRRT2 Zornitza Stark Marked gene: PRRT2 as ready
Genetic Epilepsy v0.2094 PRRT2 Zornitza Stark Gene: prrt2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2094 PRRT2 Zornitza Stark Phenotypes for gene: PRRT2 were changed from to Convulsions, familial infantile, with paroxysmal choreoathetosis 602066; Episodic kinesigenic dyskinesia 1 128200; Seizures, benign familial infantile, 2 605751
Genetic Epilepsy v0.2093 PRRT2 Zornitza Stark Publications for gene: PRRT2 were set to
Genetic Epilepsy v0.2092 PRRT2 Zornitza Stark Mode of inheritance for gene: PRRT2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.2091 PTS Zornitza Stark Marked gene: PTS as ready
Genetic Epilepsy v0.2091 PTS Zornitza Stark Gene: pts has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2091 PTS Zornitza Stark Phenotypes for gene: PTS were changed from to Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640
Genetic Epilepsy v0.2090 PTS Zornitza Stark Mode of inheritance for gene: PTS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2089 PTS Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Seizures are part of the phenotype.
Genetic Epilepsy v0.2089 PTPN23 Zornitza Stark Marked gene: PTPN23 as ready
Genetic Epilepsy v0.2089 PTPN23 Zornitza Stark Gene: ptpn23 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2089 PTPN23 Zornitza Stark Phenotypes for gene: PTPN23 were changed from to Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890
Genetic Epilepsy v0.2088 PTPN23 Zornitza Stark Publications for gene: PTPN23 were set to
Genetic Epilepsy v0.2087 PTPN23 Zornitza Stark Mode of inheritance for gene: PTPN23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2086 PSAP Zornitza Stark Marked gene: PSAP as ready
Genetic Epilepsy v0.2086 PSAP Zornitza Stark Gene: psap has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2086 PSAP Zornitza Stark Phenotypes for gene: PSAP were changed from to Combined SAP deficiency, MIM# 611721; Encephalopathy due to prosaposin deficiency, MONDO:0012719; Krabbe disease, atypical, MIM# 611722; MONDO:0012720; Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900; MONDO:0009590; Gaucher disease, atypical, MIM# 610539; MONDO:0012517
Genetic Epilepsy v0.2085 PSAP Zornitza Stark Publications for gene: PSAP were set to
Genetic Epilepsy v0.2084 PSAP Zornitza Stark Mode of inheritance for gene: PSAP was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.2083 PRODH Zornitza Stark Marked gene: PRODH as ready
Genetic Epilepsy v0.2083 PRODH Zornitza Stark Gene: prodh has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2083 PRODH Zornitza Stark Phenotypes for gene: PRODH were changed from to Hyperprolinemia, type I, MIM# 239500; Proline oxidase deficiency
Genetic Epilepsy v0.2082 PRODH Zornitza Stark Publications for gene: PRODH were set to
Genetic Epilepsy v0.2081 PRODH Zornitza Stark Mode of inheritance for gene: PRODH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2080 PRODH Zornitza Stark changed review comment from: At least 5 unrelated families reported.
Sources: Expert list; to: At least 5 unrelated families reported. Epilepsy is part of the phenotype.
Sources: Expert list
Genetic Epilepsy v0.2080 PRICKLE1 Zornitza Stark Marked gene: PRICKLE1 as ready
Genetic Epilepsy v0.2080 PRICKLE1 Zornitza Stark Gene: prickle1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2080 PRICKLE1 Zornitza Stark Phenotypes for gene: PRICKLE1 were changed from to Epilepsy, progressive myoclonic 1B, MIM# 612437
Genetic Epilepsy v0.2079 PRICKLE1 Zornitza Stark Publications for gene: PRICKLE1 were set to
Genetic Epilepsy v0.2078 PRICKLE1 Zornitza Stark Mode of inheritance for gene: PRICKLE1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.2077 PPP3CA Zornitza Stark Marked gene: PPP3CA as ready
Genetic Epilepsy v0.2077 PPP3CA Zornitza Stark Gene: ppp3ca has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2077 PPP3CA Zornitza Stark Publications for gene: PPP3CA were set to
Genetic Epilepsy v0.2076 PPP3CA Zornitza Stark Phenotypes for gene: PPP3CA were changed from Developmental and epileptic encephalopathy 91, MIM#617711 to Developmental and epileptic encephalopathy 91, MIM#617711
Genetic Epilepsy v0.2075 PPP3CA Zornitza Stark Phenotypes for gene: PPP3CA were changed from to Developmental and epileptic encephalopathy 91, MIM#617711
Genetic Epilepsy v0.2075 PPP3CA Zornitza Stark Mode of inheritance for gene: PPP3CA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2074 PPT1 Zornitza Stark Marked gene: PPT1 as ready
Genetic Epilepsy v0.2074 PPT1 Zornitza Stark Gene: ppt1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2074 PPT1 Zornitza Stark Phenotypes for gene: PPT1 were changed from to Ceroid lipofuscinosis, neuronal, 1, MIM# 256730; MONDO:0009744
Genetic Epilepsy v0.2073 PPT1 Zornitza Stark Publications for gene: PPT1 were set to
Genetic Epilepsy v0.2072 PPT1 Zornitza Stark Mode of inheritance for gene: PPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2071 PPT1 Zornitza Stark changed review comment from: Well established gene-disease association. Variable age of onset and severity.; to: Well established gene-disease association. Variable age of onset and severity Seizures are part of the phenotype.
Genetic Epilepsy v0.2071 FAM50A Zornitza Stark changed review comment from: Lee et al (2020 - PMID: 32703943) provide evidence that Armfield X-Linked intellectual disability syndrome is caused by monoallelic FAM50A pathogenic variants. The current review is based only on this reference. The authors provide clinical details on 6 affected individuals from 5 families. Features included postnatal growth delay, DD and ID (6/6 - also evident for those without formal IQ assesment), seizures (3/6 from 2 families), prominent forehead with presence of other facial features and variable head circumference (5th to >97th %le), ocular anomalies (5/6 - strabismus/nystagmus/Axenfeld-Rieger), cardiac (3/6 - ASD/Fallot) and genitourinary anomalies (3/6). In the first of these families (Armfield et al 1999 - PMID: 10398235), linkage analysis followed by additional studies (Sanger, NGS of 718 genes on chrX, X-exome NGS - several refs provided) allowed the identification of a FAM50A variant. Variants in other families were identified by singleton (1 fam) or trio-ES (3 fam). In affected individuals from 3 families, the variant had occurred de novo. Carrier females in the other families were unaffected (based on pedigrees and/or the original publication). XCI was rather biased in most obligate carrier females from the 1st family (although this ranged from 95:5 to 60:40). Missense variants were reported in all affected subjects incl. Trp206Gly, Asp255Gly, Asp255Asn (dn), Glu254Gly (dn), Arg273Trp (dn) (NM_004699.3). Previous studies have demonstrated that FAM50A has ubiquitous expression in human fetal and adult tissues (incl. brain in fetal ones). Immunostaining suggests a nuclear localization for the protein (NIH/3T3 cells). Comparison of protein levels in LCLs from affected males and controls did not demonstrate significant differences. Protein localization for 3 variants (transfection of COS-7 cells) was shown to be similar to wt. Complementation studies in zebrafish provided evidence that the identified variants confer partial loss of function (rescue of the morpholino phenotype with co-injection of wt but not mt mRNA). The zebrafish ko model seemed to recapitulate the abnormal development of cephalic structures and was indicative of diminished/defective neurogenesis. Transcriptional dysregulation was demonstrated in zebrafish (altered levels and mis-splicing). Upregulation of spliceosome effectors was demonstrated in ko zebrafish. Similarly, mRNA expression and splicing defects were demonstrated in LCLs from affected individuals. FAM50A pulldown followed by mass spectrometry in transfected HEK293T cells demonstrated enrichment of binding proteins involved in RNA processing and co-immunoprecipitation assays (transfected U-87 cells) suggested that FAM50A interacts with spliceosome U5 and C-complex proteins. Overall aberrant spliceosome C-complex function is suggested as the underlying pathogenetic mechanism. Several other neurodevelopmental syndromes are caused by variants in genes encoding C-complex affiliated proteins (incl. EFTUD2, EIF4A3, THOC2, etc.).
Sources: Literature; to: Lee et al (2020 - PMID: 32703943) 6 affected individuals from 5 families.

Seizures in 3/6 from 2 families.
Genetic Epilepsy v0.2071 FAM50A Zornitza Stark edited their review of gene: FAM50A: Changed rating: AMBER
Genetic Epilepsy v0.2071 HNRNPK Zornitza Stark Marked gene: HNRNPK as ready
Genetic Epilepsy v0.2071 HNRNPK Zornitza Stark Gene: hnrnpk has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2071 HNRNPK Zornitza Stark Classified gene: HNRNPK as Amber List (moderate evidence)
Genetic Epilepsy v0.2071 HNRNPK Zornitza Stark Gene: hnrnpk has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2070 HNRNPK Zornitza Stark gene: HNRNPK was added
gene: HNRNPK was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPK were set to 30998304; 26173930; 29904177; 26954065; 28771707
Phenotypes for gene: HNRNPK were set to Au-Kline syndrome MIM#616580
Review for gene: HNRNPK was set to AMBER
Added comment: Seizures are reported in a minority of individuals affected by Au-Kline syndrome.
Sources: Expert list
Genetic Epilepsy v0.2069 HIVEP2 Zornitza Stark Marked gene: HIVEP2 as ready
Genetic Epilepsy v0.2069 HIVEP2 Zornitza Stark Gene: hivep2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2069 HIVEP2 Zornitza Stark Classified gene: HIVEP2 as Green List (high evidence)
Genetic Epilepsy v0.2069 HIVEP2 Zornitza Stark Gene: hivep2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2068 HIVEP2 Zornitza Stark gene: HIVEP2 was added
gene: HIVEP2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: HIVEP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HIVEP2 were set to 27003583
Phenotypes for gene: HIVEP2 were set to Intellectual developmental disorder, autosomal dominant 43, MIM# 616977
Review for gene: HIVEP2 was set to GREEN
Added comment: Seizures reported in at least 3 affected individuals.
Sources: Expert list
Genetic Epilepsy v0.2067 HDAC8 Zornitza Stark Marked gene: HDAC8 as ready
Genetic Epilepsy v0.2067 HDAC8 Zornitza Stark Gene: hdac8 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2067 HDAC8 Zornitza Stark Classified gene: HDAC8 as Amber List (moderate evidence)
Genetic Epilepsy v0.2067 HDAC8 Zornitza Stark Gene: hdac8 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2066 HDAC8 Zornitza Stark gene: HDAC8 was added
gene: HDAC8 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: HDAC8 were set to Cornelia de Lange syndrome 5, MIM# 300882
Review for gene: HDAC8 was set to AMBER
Added comment: Seizures reported in 25% of individuals with CdL though what proportion of individuals with HDAC8-related disease have seizures is uncertain.
Sources: Expert list
Genetic Epilepsy v0.2065 GRIA1 Zornitza Stark Marked gene: GRIA1 as ready
Genetic Epilepsy v0.2065 GRIA1 Zornitza Stark Gene: gria1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2065 GRIA1 Zornitza Stark gene: GRIA1 was added
gene: GRIA1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: GRIA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GRIA1 were set to 35675825
Phenotypes for gene: GRIA1 were set to Intellectual developmental disorder, autosomal dominant 67, MIM# 619927; Intellectual developmental disorder, autosomal recessive 76, MIM# 619931
Review for gene: GRIA1 was set to RED
Added comment: RED/AMBER for the bi-allelic association: single family reported.

Recurrent missense for the mono-allelic association. However phenotype was predominantly ID. Seizures in one individual only.
Sources: Expert list
Genetic Epilepsy v0.2064 GPT2 Zornitza Stark Marked gene: GPT2 as ready
Genetic Epilepsy v0.2064 GPT2 Zornitza Stark Gene: gpt2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2064 GPT2 Zornitza Stark Classified gene: GPT2 as Green List (high evidence)
Genetic Epilepsy v0.2064 GPT2 Zornitza Stark Gene: gpt2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2063 GPT2 Zornitza Stark gene: GPT2 was added
gene: GPT2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: GPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPT2 were set to 27601654; 25758935; 31471722
Phenotypes for gene: GPT2 were set to Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281
Review for gene: GPT2 was set to GREEN
Added comment: 10 families reported. Typically presents with ID, HSP and microcephaly but seizures reported in some.
Sources: Expert list
Genetic Epilepsy v0.2062 GPSM2 Zornitza Stark Marked gene: GPSM2 as ready
Genetic Epilepsy v0.2062 GPSM2 Zornitza Stark Gene: gpsm2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2062 GPSM2 Zornitza Stark Classified gene: GPSM2 as Amber List (moderate evidence)
Genetic Epilepsy v0.2062 GPSM2 Zornitza Stark Gene: gpsm2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2061 GPSM2 Zornitza Stark gene: GPSM2 was added
gene: GPSM2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPSM2 were set to 20602914; 22578326; 28387217; 27180139; 27064331
Phenotypes for gene: GPSM2 were set to Chudley-McCullough syndrome, MIM# 604213
Review for gene: GPSM2 was set to AMBER
Added comment: Chudley-McCullough syndrome is an autosomal recessive neurologic disorder characterized by early-onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia/PMG. Some individuals have hydrocephalus. Development is generally normal. Over 10 families reported, supportive functional data.

Seizures reported but rare.
Sources: Expert list
Genetic Epilepsy v0.2060 NAGA Rylee Peters reviewed gene: NAGA: Rating: RED; Mode of pathogenicity: None; Publications: 8782044, 31468281, 15619430, 31890708, 11313741; Phenotypes: Kanzaki disease, MIM# 609242, Schindler disease, type I and type II 609241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2060 NR2F1 Rylee Peters gene: NR2F1 was added
gene: NR2F1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: NR2F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NR2F1 were set to 32275123
Phenotypes for gene: NR2F1 were set to Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722
Review for gene: NR2F1 was set to GREEN
Added comment: PMID: 32275123
- Cohort of 54 individuals with a deletion of or likely pathogenic variant in NR2F1, including previously published individuals with Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS).
-24/46 (52%) individuals described with seizures, some of which include infantile spasms.
- Rech et al. (2020) also described that mutations in the DBD were associated with a higher prevalence of motor delay, the inability to walk unassisted, the absence of speech, seizures, and sensitivity to touch compared to other types of mutations.
Sources: Literature
Genetic Epilepsy v0.2060 NF1 Rylee Peters changed review comment from: Seizures occur in about 5% of individuals with NF1, with a slightly higher prevalence in adults than in children (PMIDs: 32613422, 34944956).

PMID: 34944956 - Cohort of NF1 patients; Epilepsy was reported in 37/784 cases. 24/37 individuals with NF1 and epilepsy had an NF1 mutation, 1 individual was negative (NGS+MLPA), remaining 12 individuals were not tested.
Sources: Literature; to: Seizures occur in about 5% of individuals with NF1, with a slightly higher prevalence in adults than in children (PMIDs: 32613422, 34944956, GeneReviews).

PMID: 34944956 - Cohort of NF1 patients; Epilepsy was reported in 37/784 cases. 24/37 individuals with NF1 and epilepsy had an NF1 mutation, 1 individual was negative (NGS+MLPA), remaining 12 individuals were not tested.
Sources: Literature
Genetic Epilepsy v0.2060 NF1 Rylee Peters gene: NF1 was added
gene: NF1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NF1 were set to 34944956
Phenotypes for gene: NF1 were set to Neurofibromatosis, type 1 (MIM#162200)
Review for gene: NF1 was set to RED
Added comment: Seizures occur in about 5% of individuals with NF1, with a slightly higher prevalence in adults than in children (PMIDs: 32613422, 34944956).

PMID: 34944956 - Cohort of NF1 patients; Epilepsy was reported in 37/784 cases. 24/37 individuals with NF1 and epilepsy had an NF1 mutation, 1 individual was negative (NGS+MLPA), remaining 12 individuals were not tested.
Sources: Literature
Genetic Epilepsy v0.2060 NALCN Rylee Peters gene: NALCN was added
gene: NALCN was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: NALCN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NALCN were set to 30167850
Phenotypes for gene: NALCN were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419)
Review for gene: NALCN was set to GREEN
Added comment: PMID: 30167850
– Cohort of individuals with novel NALCN or UNC80 variants; includes 16 individuals with biallelic NALCN variants and 1 individual with a de novo NALCN variant.
- All individuals (16/16) with biallelic NALCN variants presented with neonatal hypotonia, failure to thrive, ID, and muscular hypotonia. Other clinical features include severe ID (14/16), nonverbal (14/16), non-walking (13/16), chronic constipation (14/16), extrapyramidal/abnormal movements (12/16), strabismus (12/16), sleeping difficulties (10/16), increased tendency to infections (9/16), and some individuals presented with seizures (7/16).
- Table 1 describes clinical features of individuals with biallelic NALCN variants, showing 13/19 previously published individuals also had seizures.
Sources: Literature
Genetic Epilepsy v0.2060 MCM3AP Rylee Peters gene: MCM3AP was added
gene: MCM3AP was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MCM3AP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCM3AP were set to 32202298
Phenotypes for gene: MCM3AP were set to Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (MIM#618124)
Review for gene: MCM3AP was set to RED
Added comment: - 2 families with probands compound heterozygous for variants in MCM3AP and a phenotype consistent with peripheral neuropathy with or without impaired intellectual development (MIM#618124).
- Two siblings from one family have severe generalised epilepsy and mild spastic diplegia.
- Functional studies using skin fibroblasts from these and other affected patients showed that disease variants result in depletion of GANP (encoded by MCM3AP) except when they alter critical residues in the Sac3 mRNA binding domain. GANP depletion was associated with more severe phenotypes compared with the Sac3 variants.
Sources: Literature
Genetic Epilepsy v0.2060 LRPPRC Rylee Peters gene: LRPPRC was added
gene: LRPPRC was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRPPRC were set to 21266382; 26510951; 38046674; 29152527
Phenotypes for gene: LRPPRC were set to Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) (MIM#220111)
Review for gene: LRPPRC was set to AMBER
Added comment: PMID: 21266382
- Cohort of patients with French-Canadian Leigh disease (MIM#220111). 55 of 56 patients were homozygous for the A354V mutation in LRPPRC.
- Condition is distinct for metabolic crises. 6/44 affected patients experienced seizures.
- During presentation of metabolic crises, 5 patients presented seizures. During neurological crises, 9 patients presented seizures.
- 10 patients were living at the time of the study and have had a stable clinical course (since puberty), with mild ID and seizures (3/6 patients).

PMID: 26510951
- 10 individuals (7 unrelated families) with recessive LRPPRC variants (identified via WES and candidate gene sequencing) with phenotypes resembling French-Canadian Leigh syndrome patients.
- 1/10 patients compound heterozygous for premature termination variants, experienced several brief generalised seizures and developed a severe encephalopathy and persistent metabolic acidosis.
- Functional characterisation of patients' fibroblasts and skeletal muscle homogenates (homozygous p.Arg1276_Lys1300del and compound heterozygous p.Glu497*; p.Gly1050Argfs*4 individuals) showed decreased levels of mutant LRPPRC protein and impaired Complex IV enzyme activity, associated with abnormal COX assembly and reduced steady-state levels of numerous oxidative phosphorylation subunits.

PMID: 38046674
- Case report; 1 individual with novel homozygous splice donor variant (c.469+2T>A) in LRPPRC causing Leigh syndrome with epilepsy. Parents are consanguineous and are unaffected carriers. The affected child had intrauterine developmental delays, absence of the corpus callosum and was suspected of exhibiting neurodevelopmental disorder, specifically experiencing seizures.

PMID: 29152527
- 1 individual with novel compound heterozygous missense variants with mild French-Canadian Type Leigh Syndrome. Developed refractory multifocal epilepsy at 3 years of age requiring multiple antiepileptics and ketogenic diet to control his seizures.
Sources: Literature
Genetic Epilepsy v0.2060 LMNB1 Rylee Peters reviewed gene: LMNB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32910914, 33033404; Phenotypes: Microcephaly 26, primary, autosomal dominant (MIM#619179); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2060 LETM1 Rylee Peters reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36055214; Phenotypes: Mitochondrial disease MONDO#0044970, LETM1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2060 PEX10 Lauren Rogers gene: PEX10 was added
gene: PEX10 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX10 were set to 32069232
Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger), MIM#614870
Review for gene: PEX10 was set to RED
Added comment: PMID: 32069232: A case report of a 4 month old boy with Zellweger syndrome, with myoclonic seizures, hypotonia and hepatosplenomegaly, who was homozygous for a p.(C296F) variant.
Sources: Literature
Genetic Epilepsy v0.2060 PCLO Lauren Rogers gene: PCLO was added
gene: PCLO was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PCLO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCLO were set to 25832664; 32122952
Phenotypes for gene: PCLO were set to Pontocerebellar hypoplasia, type 3, MIM#608027
Review for gene: PCLO was set to RED
Added comment: PMID: 25832664: Seizures are part of the phenotype, but a single consanguineous family reported with bi-allelic variant in this gene.

PMID: 32122952: Knockout PCLO rats had a smaller cerebral cortex, a reduced volume of the cerebellum and pons, as well as impaired motor control and the presence of seizures BUT they don’t talk about seizures in the results, only introduction and discussion
Sources: Literature
Genetic Epilepsy v0.2060 PEX13 Lauren Rogers gene: PEX13 was added
gene: PEX13 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX13 were set to 19449432; 37962062; 34055681; 37962062; 30919572; 33547378; 35854306
Phenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11A (Zellweger)
Review for gene: PEX13 was set to GREEN
Added comment: PMID: 19449432: 2x unrelated Saudi children of consanguineous parents with Zellweger syndrome. Both children had seizures alongside other features of Zellweger and died young. One patient had a homozygous deletion (147,308 bp) encompassing the entire PEX3 gene and the other had a homozygous p.(G36DfsX61) variant.

PMID: 37962062: A consanguineous patient had severe hypotonia, seizures, hepatic dysfunction, failure to thrive, and dysmorphic features. They had a homozygous p.(Ala165Pro) variant and died at 14 months.

PMID: 34055681: An individual with global developmental delay, focal seizures, peritrigonal white matter disease and thinning corpus callosum with a homozygous p.(Met1Val) variant.

PMID: 37962062: 1x individual with hypotonia, seizures, developmental delay and suspicious abnormal signal in the bilateral basal ganglia with a homozygous p.(A165P) variant.

PMID: 30919572: 1x individual with developmental delay and seizures, cerebral atrophy and white matter volume loss. Homozygous for a p.(G23R) variant.

PMID: 33547378: 1x individual with a homozygous p.(K177del) variant with motor regression, seizure at 2 months, digestive problems, hypotonia, hypodontia, abnormal white matter and demyelination.

PMID: 35854306: 1x individual with a homozygous p.(W313*) variant with phycomotor delay, motor impairments, intellectual disability, language impairment and seizures, cortical malformations.
Sources: Literature
Genetic Epilepsy v0.2060 PAX6 Lauren Rogers gene: PAX6 was added
gene: PAX6 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PAX6 were set to 34200146; 17417613; 12731001
Phenotypes for gene: PAX6 were set to Aniridia (MIM#106210)
Review for gene: PAX6 was set to AMBER
Added comment: PMID: 34200146: A case report of 1x male born with anophthalmia, who underwent hypoglycemic seizures starting at 5 months old, and showed a prediabetic condition at 60 months. They were heterozygous for a p.(S63C) variant.

PMID: 17417613: in a cohort of 78 individuals affected by aniridia; those with diverse ocular manifestations; and those with Peters' anomaly, and unaffected relatives. 1 large family with congenital ocular abnormalities, 14/36 had a PAX6 p.(S74G) variant. Most affected patients of this family had minor or major bilateral foveal hypoplasia. At least four individuals of this family had epilepsy, while others displayed variable neurological deficits along with severe cognitive deficiencies.

PMID: 12731001: In a cohort of 24 individuals with ocular abnormalities and defined PAX6 variants, 4x individuals with a single or recurrent unprovoked seizures. 1x individual had isolated unilateral polymicrogyria with a C-terminal extension, gave a history of frequent complex partial seizures compatible with temporal lobe epilepsy. Variant was inherited from mother who had a subtle gyral abnormality of the left temporal lobe, most probably polymicrogyria but she did not give a history of seizure. For the other patients it is not clear which are associated with the epilepsy patients.
Sources: Literature
Genetic Epilepsy v0.2060 PAK3 Lauren Rogers gene: PAK3 was added
gene: PAK3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PAK3 were set to 17853471; 12884430; 29246092; 25666757
Phenotypes for gene: PAK3 were set to Intellectual developmental disorder, X-linked 30 (MIM#300558)
Review for gene: PAK3 was set to AMBER
Added comment: PMID: 17853471: Report of 1 family with intellectual disability (5 affected males and 4 carrier females), EEG was reported for 4 affected males and 1 carrier female; only one had epilepsy, another individual had one seizure but no epileptic discharges on EEG. The familial variant in affected males and carrier females was p.(W446S).

PMID: 12884430: In an Australian multigenerational family with mild to borderline non-syndromic X-linked intellectual disability, 1/13 affected males had myoclonic epilepsy. The familial variant in affected males and carrier females was p.(A365E) determined via linkage analysis.

PMID: 29246092: A case report of one individual with intellectual disability, severe auto-mutilation and epilepsy had a p.(Ser527Gly) variant.

PMID: 25666757: In a cohort of 183 individuals with cerebral palsy, 1 male individual had hemiplegic cerebral palsy and epilepsy and showed cognitive abilities in the upper limit of the low average range. They had a PAK3 p.(R493C) variant.
Sources: Literature
Genetic Epilepsy v0.2060 OFD1 Lauren Rogers gene: OFD1 was added
gene: OFD1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: OFD1 were set to 23033313; 31373179
Phenotypes for gene: OFD1 were set to Orofaciodigital syndrome I (MIM#311200)
Review for gene: OFD1 was set to AMBER
Added comment: PMID: 23033313: Cohort of 25 with OFD1 variants with orofaciodigital syndrome I. 4/25 had epilepsy. One female individual had a p.(His50Alafs*2) variant, the other variants it is not clear which were associated with the epilepsy patients.

PMID: 31373179: In a cohort of 3 males with primary ciliary dyskinesia, 1 individual had seizures, dysmorphic features, intellectual disability, minimally verbal and minimally able to ambulate, chronic cerebral atrophy, hypotonia, and apnea. He had a de novo hemizygous p.(Glu995*) variant.
Sources: Literature
Genetic Epilepsy v0.2060 PTCH1 Elena Savva Marked gene: PTCH1 as ready
Genetic Epilepsy v0.2060 PTCH1 Elena Savva Gene: ptch1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2060 PTCH1 Elena Savva Classified gene: PTCH1 as Red List (low evidence)
Genetic Epilepsy v0.2060 PTCH1 Elena Savva Gene: ptch1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2059 PTCH1 Belinda Chong gene: PTCH1 was added
gene: PTCH1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTCH1 were set to 11941477; 17001668; 29575684; 36171624
Phenotypes for gene: PTCH1 were set to Holoprosencephaly 7, MIM# 610828
Review for gene: PTCH1 was set to RED
Added comment: Currently red for this panel.

PMID: 11941477 - In a female with holoprosencephaly, seizures, and bilateral cleft lip, a heterozygous c.2467A>G variant was identified in the PTCH gene. However, this variant is classified as benign in ClinVar.

PMID: 36171624 - A 10-month-old Chinese female patient with mobility disorders on the right limbs and recurrent seizures. Epidermal nevus syndrome was diagnosed, the patient also has a de novo mutation (c.109G > T) in PTCH1 gene and cerebral infarction.
Sources: Literature
Genetic Epilepsy v0.2059 CTU2 Zornitza Stark Marked gene: CTU2 as ready
Genetic Epilepsy v0.2059 CTU2 Zornitza Stark Gene: ctu2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2059 CTU2 Zornitza Stark Classified gene: CTU2 as Green List (high evidence)
Genetic Epilepsy v0.2059 CTU2 Zornitza Stark Gene: ctu2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2058 CYP27A1 Zornitza Stark Marked gene: CYP27A1 as ready
Genetic Epilepsy v0.2058 CYP27A1 Zornitza Stark Gene: cyp27a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2058 CYP27A1 Zornitza Stark Classified gene: CYP27A1 as Green List (high evidence)
Genetic Epilepsy v0.2058 CYP27A1 Zornitza Stark Gene: cyp27a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2057 DAG1 Zornitza Stark Marked gene: DAG1 as ready
Genetic Epilepsy v0.2057 DAG1 Zornitza Stark Gene: dag1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2057 DAG1 Zornitza Stark Classified gene: DAG1 as Red List (low evidence)
Genetic Epilepsy v0.2057 DAG1 Zornitza Stark Gene: dag1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2057 DAG1 Zornitza Stark Classified gene: DAG1 as Red List (low evidence)
Genetic Epilepsy v0.2057 DAG1 Zornitza Stark Gene: dag1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2056 RBFOX1 Zornitza Stark Marked gene: RBFOX1 as ready
Genetic Epilepsy v0.2056 RBFOX1 Zornitza Stark Gene: rbfox1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2056 RBFOX1 Zornitza Stark Classified gene: RBFOX1 as Green List (high evidence)
Genetic Epilepsy v0.2056 RBFOX1 Zornitza Stark Gene: rbfox1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2055 DAG1 Andrew Fennell gene: DAG1 was added
gene: DAG1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAG1 were set to PMID: 24052401; 25934851; 30450679
Phenotypes for gene: DAG1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818; Walker-Warburg syndrome and tectocerebellar dysgraphia
Review for gene: DAG1 was set to RED
Added comment: Only 7 individuals reported with MDDGA9 and none had seizures. MDDGC9 phenotype is related to limb-girdle dystrophy and also has no association with seizures.
Sources: Literature
Genetic Epilepsy v0.2055 CYP27A1 Andrew Fennell gene: CYP27A1 was added
gene: CYP27A1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP27A1 were set to PMID: 16816916; 20301583; 22658436
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis MIM#213700; Disorders of bile acid biosynthesis
Review for gene: CYP27A1 was set to GREEN
Added comment: PMID: 16816916 - Approximately 50% of CTX patients reported to have seizures in older literature.

PMID: 20301583 - GeneReviews quotes seizures are present in 33% of cases.

PMID 22336472, 22658436, 33414089 - Multiple single case reports of individuals with seizures onset earlier in the disease process ranging from 2.5yo to 12yo.
Sources: Literature
Genetic Epilepsy v0.2055 CTU2 Andrew Fennell gene: CTU2 was added
gene: CTU2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTU2 were set to PMID: 27480277; 33559988
Phenotypes for gene: CTU2 were set to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142
Review for gene: CTU2 was set to GREEN
Added comment: PMID: 33559988 - 6 individuals from 5 different families (2 individuals previously reported in PMID 27480277) with DREAM-PL reported to have seizures. The age of onset ranges from birth to 9yo.
Sources: Literature
Genetic Epilepsy v0.2055 GMPPB Zornitza Stark Marked gene: GMPPB as ready
Genetic Epilepsy v0.2055 GMPPB Zornitza Stark Gene: gmppb has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2055 GMPPB Zornitza Stark Classified gene: GMPPB as Green List (high evidence)
Genetic Epilepsy v0.2055 GMPPB Zornitza Stark Gene: gmppb has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2054 GMPPB Zornitza Stark gene: GMPPB was added
gene: GMPPB was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GMPPB were set to 30257713
Phenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350
Review for gene: GMPPB was set to GREEN
Added comment: Established gene-disease association, spectrum of severity. Seizures reported as part of the severe end of the spectrum.
Sources: Expert list
Genetic Epilepsy v0.2053 GMPPA Zornitza Stark Marked gene: GMPPA as ready
Genetic Epilepsy v0.2053 GMPPA Zornitza Stark Gene: gmppa has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2053 GMPPA Zornitza Stark Classified gene: GMPPA as Amber List (moderate evidence)
Genetic Epilepsy v0.2053 GMPPA Zornitza Stark Gene: gmppa has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2053 GMPPA Zornitza Stark Classified gene: GMPPA as Amber List (moderate evidence)
Genetic Epilepsy v0.2053 GMPPA Zornitza Stark Gene: gmppa has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2052 GMPPA Zornitza Stark gene: GMPPA was added
gene: GMPPA was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GMPPA were set to 24035193; 28574218
Phenotypes for gene: GMPPA were set to Alacrima, achalasia, and mental retardation syndrome (MIM# 615510)
Review for gene: GMPPA was set to AMBER
Added comment: 10 families reported, of which one had seizures.
Sources: Expert list
Genetic Epilepsy v0.2051 GABRA4 Zornitza Stark Publications for gene: GABRA4 were set to 35152403
Genetic Epilepsy v0.2050 GABRA4 Zornitza Stark edited their review of gene: GABRA4: Changed publications: 35152403, 35781801
Genetic Epilepsy v0.2050 DARS2 Zornitza Stark Publications for gene: DARS2 were set to 17384640; 15002045; 16788019; 30352563
Genetic Epilepsy v0.2049 DARS2 Zornitza Stark Classified gene: DARS2 as Amber List (moderate evidence)
Genetic Epilepsy v0.2049 DARS2 Zornitza Stark Gene: dars2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2048 CRADD Zornitza Stark Classified gene: CRADD as Green List (high evidence)
Genetic Epilepsy v0.2048 CRADD Zornitza Stark Gene: cradd has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2047 CRADD Zornitza Stark reviewed gene: CRADD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly, MIM# 614499; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2047 ISPD Zornitza Stark Publications for gene: ISPD were set to
Genetic Epilepsy v0.2046 ISPD Zornitza Stark Classified gene: ISPD as Green List (high evidence)
Genetic Epilepsy v0.2046 ISPD Zornitza Stark Gene: ispd has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2045 CTSF Zornitza Stark Marked gene: CTSF as ready
Genetic Epilepsy v0.2045 CTSF Zornitza Stark Gene: ctsf has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2045 CTSF Elena Savva Phenotypes for gene: CTSF were changed from Ceroid lipofuscinosis, neuronal, 13 (Kufs type) MIM#615362 to Ceroid lipofuscinosis, neuronal, 13 (Kufs type) MIM#615362
Genetic Epilepsy v0.2044 CTSF Elena Savva Phenotypes for gene: CTSF were changed from to Ceroid lipofuscinosis, neuronal, 13 (Kufs type) MIM#615362
Genetic Epilepsy v0.2044 CTSF Elena Savva Classified gene: CTSF as Green List (high evidence)
Genetic Epilepsy v0.2044 CTSF Elena Savva Gene: ctsf has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2043 CRADD Elena Savva Classified gene: CRADD as Amber List (moderate evidence)
Genetic Epilepsy v0.2043 CRADD Elena Savva Gene: cradd has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2043 CSNK2A1 Elena Savva Classified gene: CSNK2A1 as Green List (high evidence)
Genetic Epilepsy v0.2043 CSNK2A1 Elena Savva Gene: csnk2a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2042 CSNK2A1 Elena Savva Classified gene: CSNK2A1 as Green List (high evidence)
Genetic Epilepsy v0.2042 CSNK2A1 Elena Savva Gene: csnk2a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2041 CSNK2A1 Elena Savva Marked gene: CSNK2A1 as ready
Genetic Epilepsy v0.2041 CSNK2A1 Elena Savva Gene: csnk2a1 has been removed from the panel.
Genetic Epilepsy v0.2041 CRADD Elena Savva Classified gene: CRADD as Amber List (moderate evidence)
Genetic Epilepsy v0.2041 CRADD Elena Savva Gene: cradd has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2040 CRADD Elena Savva Marked gene: CRADD as ready
Genetic Epilepsy v0.2040 CRADD Elena Savva Gene: cradd has been removed from the panel.
Genetic Epilepsy v0.2040 CPT2 Elena Savva Marked gene: CPT2 as ready
Genetic Epilepsy v0.2040 CPT2 Elena Savva Gene: cpt2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2040 CPT2 Elena Savva Classified gene: CPT2 as Green List (high evidence)
Genetic Epilepsy v0.2040 CPT2 Elena Savva Gene: cpt2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2040 CSF1R Elena Savva Classified gene: CSF1R as Green List (high evidence)
Genetic Epilepsy v0.2040 CSF1R Elena Savva Gene: csf1r has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2039 CSF1R Elena Savva Mode of pathogenicity for gene: CSF1R was changed from None to None
Genetic Epilepsy v0.2039 CSF1R Elena Savva Classified gene: CSF1R as Green List (high evidence)
Genetic Epilepsy v0.2039 CSF1R Elena Savva Gene: csf1r has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2038 CSF1R Elena Savva Marked gene: CSF1R as ready
Genetic Epilepsy v0.2038 CSF1R Elena Savva Gene: csf1r has been removed from the panel.
Genetic Epilepsy v0.2038 CTSF Andrew Fennell gene: CTSF was added
gene: CTSF was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSF were set to PMID: 23297359; 25274848; 27668283; 27524508; 35139754
Review for gene: CTSF was set to GREEN
Added comment: PMID: 23297359 - Four affected individuals from three different families all with seizures of varying types and frequency (two in family Ku4, one in family Ku10, one in family Ku16).

PMID: 25274848 - 5/6 affected individuals from a single family presented with tonic-clonic seizures as a first manifestation of their disease aged 21-66 years. All progressed to dementia. All were homozygous for c.213+1G>C.

PMID: 27668283 - 1/4 affected siblings, presented with myoclonic seizures at 35yo.

PMID: 27524508 - single report of 39yo female with chronic psychosis and new seizures.
Sources: Literature
Genetic Epilepsy v0.2038 CSNK2A1 Andrew Fennell gene: CSNK2A1 was added
gene: CSNK2A1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CSNK2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CSNK2A1 were set to PMID: 35679446; 36588763
Phenotypes for gene: CSNK2A1 were set to Okur-Chung neurodevelopmental syndrome, MIM# 617062
Review for gene: CSNK2A1 was set to GREEN
Added comment: PMID 36588763 - Review of previously reported cases noted 9/31 (29%) individuals with Okur-Chung neurodevelopmental syndrome reported to have seizures.

PMID: 35679446 - GeneReviews article includes seizures among the more common features of the disorder, present in 11/36 cases reported to date. No specific type of seizure has been noted. Intractable seizures are reported in some individuals while only one case status has been reported.
Sources: Literature
Genetic Epilepsy v0.2038 CSF1R Andrew Fennell gene: CSF1R was added
gene: CSF1R was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CSF1R was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: CSF1R were set to PMID: 22197934; 24336230; 30982608; 30982609
Phenotypes for gene: CSF1R were set to Brain abnormalities, neurodegeneration, and dysosteosclerosis, (MIM#618476)
Review for gene: CSF1R was set to GREEN
Added comment: Monoallelic disease is onset in 3rd or 4th decades whereas biallelic disease is associated with early-onset disease in infancy or childhood.

Monoallelic association:
PMID: 22197934 - 13/23 individuals from 9 different families reported to have seizures.
PMID: 24336230 - 2/7 individuals with seizures reported from a Japanese cohort.

Biallelic association:
PMID: 30982608 - Two individuals with a seizure history. First was an infant who presented with prenatal structural brain abnormalities, including ACC, ventriculomegaly, and pontocerebellar hypoplasia, and died at 10 months had intractable epilepsy. Second individuals presented with generalized tonic-clonic seizures aged 12 years old associated with regression and loss of all skills.

PMID: 30982609 - Two individuals with seizures were reported from a cohort of 7 individuals. A-III-1 was a male infant who developed seizures in early infancy (after 3 months of age). Individual C-III-4 was a male who developed focal seizures in early infancy.
Sources: Literature
Genetic Epilepsy v0.2038 ISPD Andrew Fennell reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24120487, 35863218; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2038 CRADD Andrew Fennell gene: CRADD was added
gene: CRADD was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CRADD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRADD were set to PMID: 27773430; 30914828
Phenotypes for gene: CRADD were set to Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly, MIM# 614499
Review for gene: CRADD was set to AMBER
Added comment: PMID: 27773430 - 3/13 individuals with IDD34 were reported to have seizures.

PMID: 30914828 - 2/22 individuals with a Finnish founder mutation were reported to have seizures
Sources: Literature
Genetic Epilepsy v0.2038 CPT2 Andrew Fennell gene: CPT2 was added
gene: CPT2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPT2 were set to PMID: 20301431; 35028265; 36478999
Phenotypes for gene: CPT2 were set to CPT II deficiency, infantile 600649; CPT II deficiency, lethal neonatal 608836; CPT II deficiency, myopathic, stress-induced 255110
Review for gene: CPT2 was set to GREEN
Added comment: GeneReviews quotes seizures as a core component of the phenotype in lethal neonatal and severe infantile forms of the disorder.

PMID: 36478999 - single report of a 10yo male with CPT2 who developed focal seizures during an acute episode.

PMID: 35028265 - single report of a male who presented at 5 months of age with infantile‐onset carnitine palmitoyltransferase 2 (CPT2) deficiency. He also had X‐linked nephrogenic diabetes insipidus. He developed focal seizures at 17yo.
Sources: Literature
Genetic Epilepsy v0.2038 DARS2 Andrew Fennell reviewed gene: DARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 34104671; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2038 ALG12 Zornitza Stark Marked gene: ALG12 as ready
Genetic Epilepsy v0.2038 ALG12 Zornitza Stark Gene: alg12 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2038 ALG12 Zornitza Stark Classified gene: ALG12 as Red List (low evidence)
Genetic Epilepsy v0.2038 ALG12 Zornitza Stark Gene: alg12 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2037 ASXL3 Zornitza Stark Classified gene: ASXL3 as Green List (high evidence)
Genetic Epilepsy v0.2037 ASXL3 Zornitza Stark Gene: asxl3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2037 ASXL3 Zornitza Stark Marked gene: ASXL3 as ready
Genetic Epilepsy v0.2037 ASXL3 Zornitza Stark Gene: asxl3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2037 ASXL3 Zornitza Stark Classified gene: ASXL3 as Green List (high evidence)
Genetic Epilepsy v0.2037 ASXL3 Zornitza Stark Gene: asxl3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2036 ABCA2 John Coleman reviewed gene: ABCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37777370, 30237576, 29302074, 31047799; Phenotypes: Intellectual developmental disorder with poor growth and with or without seizures or ataxia, OMIM 618808; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2036 TRAPPC2L Zornitza Stark Publications for gene: TRAPPC2L were set to 30120216; 32843486
Genetic Epilepsy v0.2035 TMEM163 Zornitza Stark Publications for gene: TMEM163 were set to PMID: 35953447
Genetic Epilepsy v0.2034 BICD2 Zornitza Stark Marked gene: BICD2 as ready
Genetic Epilepsy v0.2034 BICD2 Zornitza Stark Gene: bicd2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2034 BICD2 Zornitza Stark Phenotypes for gene: BICD2 were changed from spinal muscular atrophy MONDO:0001516 to Neurodevelopmental disorder, BICD2-related (MONDO#0700092)
Genetic Epilepsy v0.2033 BICD2 Zornitza Stark Classified gene: BICD2 as Amber List (moderate evidence)
Genetic Epilepsy v0.2033 BICD2 Zornitza Stark Gene: bicd2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2032 BCKDK Zornitza Stark Marked gene: BCKDK as ready
Genetic Epilepsy v0.2032 BCKDK Zornitza Stark Gene: bckdk has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2032 BCKDK Zornitza Stark Classified gene: BCKDK as Green List (high evidence)
Genetic Epilepsy v0.2032 BCKDK Zornitza Stark Gene: bckdk has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2031 B4GAT1 Zornitza Stark Marked gene: B4GAT1 as ready
Genetic Epilepsy v0.2031 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2031 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Amber List (moderate evidence)
Genetic Epilepsy v0.2031 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2030 B3GALNT2 Zornitza Stark Marked gene: B3GALNT2 as ready
Genetic Epilepsy v0.2030 B3GALNT2 Zornitza Stark Gene: b3galnt2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2030 B3GALNT2 Zornitza Stark Classified gene: B3GALNT2 as Green List (high evidence)
Genetic Epilepsy v0.2030 B3GALNT2 Zornitza Stark Gene: b3galnt2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2029 PRUNE1 Zornitza Stark Marked gene: PRUNE1 as ready
Genetic Epilepsy v0.2029 PRUNE1 Zornitza Stark Gene: prune1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2029 PRUNE1 Zornitza Stark Classified gene: PRUNE1 as Green List (high evidence)
Genetic Epilepsy v0.2029 PRUNE1 Zornitza Stark Gene: prune1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2028 ALG12 John Coleman gene: ALG12 was added
gene: ALG12 was added to Genetic Epilepsy. Sources: NHS GMS,Literature
Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG12 were set to (PMID: 33618527)
Phenotypes for gene: ALG12 were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; OMIM: 607144
Review for gene: ALG12 was set to RED
Added comment: Causes AR congenital disorder of gylcosolation type Ig. Listed as red list on panel app UK for Genetic Epilepsy. Epilepsy/ seizures not reported on OMIM phenotype. Seizure listed on Gene-reviews under CDG Ig however citations for this are linked to papers about CDG overall/ biochemical evidence rather than ALG12 variants. Pubmed search for "ALG12" and "epilepsy" shows no results. Search for "ALG12" and "seizure" linked to one paper only (PMID: 33618527), again only mention of seizure in this paper is related to CDGs in general and not a specific patient with ALG12/ CDG Type Ig. No established evidence of seizures or epilepsy in ALG12/ CDG type Ig phenotype.
Sources: NHS GMS, Literature
Genetic Epilepsy v0.2028 ASXL3 John Coleman gene: ASXL3 was added
gene: ASXL3 was added to Genetic Epilepsy. Sources: NHS GMS,ClinGen,Literature
Mode of inheritance for gene: ASXL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ASXL3 were set to PMID:33151654; 34436830; 29367179
Phenotypes for gene: ASXL3 were set to Bainbridge-Ropers syndrome, OMIM:615115
Review for gene: ASXL3 was set to GREEN
Added comment: Listed as Green entity on panel app uk. De novo loss of function variants and dominant negative variants reported. 1/3rd of patients with epilepsy according to Clingen and Genereviews. 11/39 phenotyped patients in a large cohort (PMID: 34436830) had seizures. Various types - absence, GTC, onset in pediatric age group or adult. Generally treatment responsive. Some adults with intractable difficult to treat seizures. Smaller cohort of 3 unrelated individuals (29367179) with seizures, 2 had PTC variants and 1 patient had a splice variant.
Sources: NHS GMS, ClinGen, Literature
Genetic Epilepsy v0.2028 TRAPPC2L Belinda Chong reviewed gene: TRAPPC2L: Rating: RED; Mode of pathogenicity: None; Publications: 36849228, 30120216, 32843486; Phenotypes: Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, MIM#618331; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2028 TRA2B Belinda Chong reviewed gene: TRA2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 36549593; Phenotypes: Neurodevelopmental disorder, TRA2B-related (MONDO#0700092); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genetic Epilepsy v0.2028 TMEM163 Belinda Chong reviewed gene: TMEM163: Rating: GREEN; Mode of pathogenicity: None; Publications: 35455965, 35953447; Phenotypes: Leukodystrophy, hypomyelinating, 25 MIM#620243; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genetic Epilepsy v0.2028 BICD2 Lilian Downie gene: BICD2 was added
gene: BICD2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: BICD2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: BICD2 were set to PMID: 35896821, PMID: 28635954, PMID: 32057122, PMID: 25497877, PMID: 35338243
Phenotypes for gene: BICD2 were set to spinal muscular atrophy MONDO:0001516
Review for gene: BICD2 was set to AMBER
Added comment: mostly AD cases reported, new more severe presentation reported x2 with biallelic variants: seizures part of the AR phenotype in both cases

From the literature of AD SMA cases:
PMID: PMID: 32057122 2x patients from same family with seizures as part of the phenotype
PMID: 28635954 patient suspected clinically as having seizures but not proven
PMID: 25497877 large cohort (N=32 patients from 9 families) no seizures
Sources: Expert list
Genetic Epilepsy v0.2028 BCKDK Lilian Downie gene: BCKDK was added
gene: BCKDK was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: BCKDK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCKDK were set to PMID: 22956686, PMID: 35216372, PMID: 36729635
Phenotypes for gene: BCKDK were set to Branched-chain keto acid dehydrogenase kinase deficiency MIM#614923
Review for gene: BCKDK was set to GREEN
Added comment: Epilepsy well reported part of this phenotype
Sources: Expert list
Genetic Epilepsy v0.2028 B4GAT1 Lilian Downie gene: B4GAT1 was added
gene: B4GAT1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: B4GAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GAT1 were set to PMID 23877401, PMID: 23359570
Phenotypes for gene: B4GAT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM#615287
Review for gene: B4GAT1 was set to AMBER
Added comment: PMID 23877401 multiple family members affected, 1 with seizures
PMID: 23359570 affected 2yo with seizures
Sources: Expert list
Genetic Epilepsy v0.2028 B3GALNT2 Lilian Downie gene: B3GALNT2 was added
gene: B3GALNT2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GALNT2 were set to PMID: 29791932, PMID: 29273094, PMID: 35127920
Phenotypes for gene: B3GALNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11 MIM#615181
Review for gene: B3GALNT2 was set to GREEN
Added comment: Severe congenital muscular dystrophy and ID phenotype. Seizures not consistent feature with early phenotypic reports
PMID: 29791932 epileptic encephalopathy
PMID: 29273094 5 individuals with ID and seizures from single large consanguineous family but they had no or mild muscle symptoms so quite different from previously reported phenotype
PMID: 35127920 not a great article but does have a table summarising the previous cases and 9/21 had seizures.
Sources: Expert list
Genetic Epilepsy v0.2028 PRUNE1 Chris Ciotta gene: PRUNE1 was added
gene: PRUNE1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PRUNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRUNE1 were set to PMID: 28334956; 26539891; 30556349; 29940663; 29797509
Phenotypes for gene: PRUNE1 were set to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MIM#617481
Review for gene: PRUNE1 was set to GREEN
Added comment: PRUNE1 is associated with neurodevelopmental disorder with microcephaly, hypotonia and variable brain anomalies (MIM#617481). Seizures are a listed phenotype in OMIM in some patients.
- Seizures were seen in 6/13 individuals (PMID:28334956) from Oman, Iran, India and Italy, the variants identified in individuals with seizures were absent from gnomAD besides the commonly reported Asp109Asn variant (41 hets, 0 Homs in V4) which has also been extensively reported in ClinVar (10x pathogenic reports).
- Seizures were also reported in 7/9 Cree children from the Canadian province of Manitoba (PMID:30556349), they all shared a likely founder homozygous c.521-2A>G splicing variant. The normally spliced product was absent in RNA prepared from two individuals with exon 5 skipping or multiple exon skipping leading to a frameshift and premature termination observed as outcomes of this variant.
- Epilepsy was reported in 11/12 unrelated individuals (paediatric patients with neurological symptoms from Munich) with bi-allelic variants in PRUNE1 (PMID:29940663).
Sources: Literature
Genetic Epilepsy v0.2028 NDUFV2 Lauren Rogers reviewed gene: NDUFV2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2028 NDUFA8 Lauren Rogers reviewed gene: NDUFA8: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 37 - 619272, Epilepsy, Microcephaly, Developmental Delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2028 NAT8L Lauren Rogers reviewed gene: NAT8L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: N-acetylaspartate deficiency - MIM#614063; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2028 OSTC Lauren Rogers reviewed gene: OSTC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Oligosaccharyltransferase complex-congenital disorders of glycosylation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2028 STX1A Zornitza Stark Publications for gene: STX1A were set to
Genetic Epilepsy v0.2027 ATP5E Zornitza Stark Marked gene: ATP5E as ready
Genetic Epilepsy v0.2027 ATP5E Zornitza Stark Gene: atp5e has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2027 ATP5E Zornitza Stark Classified gene: ATP5E as Amber List (moderate evidence)
Genetic Epilepsy v0.2027 ATP5E Zornitza Stark Gene: atp5e has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2026 ATP5G3 Zornitza Stark Marked gene: ATP5G3 as ready
Genetic Epilepsy v0.2026 ATP5G3 Zornitza Stark Gene: atp5g3 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2026 ATP5G3 Zornitza Stark Classified gene: ATP5G3 as Red List (low evidence)
Genetic Epilepsy v0.2026 ATP5G3 Zornitza Stark Gene: atp5g3 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2025 ATP5G3 Zornitza Stark edited their review of gene: ATP5G3: Changed publications: 34954817
Genetic Epilepsy v0.2025 ATP5G3 Zornitza Stark reviewed gene: ATP5G3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia, early-onset, and/or spastic paraplegia MIM#619681; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2025 ATP5O Zornitza Stark Tag new gene name tag was added to gene: ATP5O.
Genetic Epilepsy v0.2025 AUTS2 Zornitza Stark Marked gene: AUTS2 as ready
Genetic Epilepsy v0.2025 AUTS2 Zornitza Stark Gene: auts2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2025 AUTS2 Zornitza Stark Classified gene: AUTS2 as Red List (low evidence)
Genetic Epilepsy v0.2025 AUTS2 Zornitza Stark Gene: auts2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2024 SYNCRIP Zornitza Stark Phenotypes for gene: SYNCRIP were changed from Global developmental delay; Intellectual disability; Autism; Myoclonic atonic seizures; Abnormality of nervous system morphology to Neurodevelopmental disorder, MONDO:0700092, SYNCRIP-related; Global developmental delay; Intellectual disability; Autism; Myoclonic atonic seizures; Abnormality of nervous system morphology
Genetic Epilepsy v0.2023 CPT1A Zornitza Stark Publications for gene: CPT1A were set to 12189492; 33565078
Genetic Epilepsy v0.2022 CPT1A Zornitza Stark Classified gene: CPT1A as Green List (high evidence)
Genetic Epilepsy v0.2022 CPT1A Zornitza Stark Gene: cpt1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2021 CWF19L1 Zornitza Stark Publications for gene: CWF19L1 were set to 33012273
Genetic Epilepsy v0.2020 CWF19L1 Zornitza Stark Classified gene: CWF19L1 as Green List (high evidence)
Genetic Epilepsy v0.2020 CWF19L1 Zornitza Stark Gene: cwf19l1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2019 CWF19L1 Andrew Fennell reviewed gene: CWF19L1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36453471, 37752213; Phenotypes: Spinocerebellar ataxia, autosomal recessive 17, MIM# 616127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2019 CPT1A Andrew Fennell reviewed gene: CPT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34869124, 20696606; Phenotypes: CPT deficiency, hepatic, type IA, MIM# 255120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2019 TCEAL1 Belinda Chong reviewed gene: TCEAL1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36368327; Phenotypes: Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, MIM# 301094; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.2019 SYNCRIP Belinda Chong reviewed gene: SYNCRIP: Rating: AMBER; Mode of pathogenicity: None; Publications: 34157790, 30504930, 27479843, 23020937; Phenotypes: Global developmental delay, Intellectual disability, Autism, Myoclonic atonic seizures, Abnormality of nervous system morphology; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genetic Epilepsy v0.2019 SV2B Belinda Chong reviewed gene: SV2B: Rating: RED; Mode of pathogenicity: None; Publications: 23617838, 23937191; Phenotypes: seizures; Mode of inheritance: Unknown
Genetic Epilepsy v0.2019 AUTS2 Lilian Downie gene: AUTS2 was added
gene: AUTS2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: AUTS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AUTS2 were set to PMID: 34573342, PMID: 33346930, PMID: 27075013, PMID: 23332918, PMID: 12160723
Phenotypes for gene: AUTS2 were set to Intellectual developmental disorder, autosomal dominant 26 MIM#615834
Review for gene: AUTS2 was set to RED
Added comment: PMID: 33346930 1 patient with epilepsy
PMID: 12160723 gene discovery paper with twins epilepsy was a feature as per description in PMID: 23332918 but the actual paper doesn't describe seizures.
Seizures are not part of the phenotype in the other reported cases.
Sources: Expert list
Genetic Epilepsy v0.2019 ATP5O Lilian Downie reviewed gene: ATP5O: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35621276, 34954817; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2019 ATP5G3 Lilian Downie gene: ATP5G3 was added
gene: ATP5G3 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: ATP5G3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP5G3 were set to PMIDS: 34636445, 34954817
Phenotypes for gene: ATP5G3 were set to Dystonia, early-onset, and/or spastic paraplegia MIM#619681
Review for gene: ATP5G3 was set to RED
Added comment: Reviewed for epilepsy gene list review - no new evidence for seizures as part of this dystonia phenotype
Sources: Expert list
Genetic Epilepsy v0.2019 ATP5E Lilian Downie gene: ATP5E was added
gene: ATP5E was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: ATP5E was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP5E were set to PMID: 34954817, PMID: 22231385
Phenotypes for gene: ATP5E were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053
Review for gene: ATP5E was set to AMBER
Added comment: Reviewed as included on the review list for genetic epilepsy
2/3 patients had seizures in the paper PMID 34954817
1 type not specified, the 2nd GTCS
1 patient in PMID: 22231385, no seizures
no new evidence
Sources: Expert list
Genetic Epilepsy v0.2019 ATP5A1 Lilian Downie reviewed gene: ATP5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 34954817; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A MIM#620358; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2019 STX1A Belinda Chong reviewed gene: STX1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 37029317, 36564538; Phenotypes: Neurodevelopmental disorder MONDO#0700092, STX1A-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.2019 SPEN Belinda Chong reviewed gene: SPEN: Rating: AMBER; Mode of pathogenicity: None; Publications: 33596411; Phenotypes: Radio-Tartaglia syndrome MIM#619312; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genetic Epilepsy v0.2019 CAPRIN1 Zornitza Stark Phenotypes for gene: CAPRIN1 were changed from Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636 to Neurodevelopmental disorder, CAPRIN1-related MONDO:0700092; Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636
Genetic Epilepsy v0.2018 CAPRIN1 Zornitza Stark edited their review of gene: CAPRIN1: Added comment: Two individuals reported with the same de novo c.1535C > T (p.Pro512Leu) variant and a progressive course.; Changed publications: 36136249
Genetic Epilepsy v0.2018 CAPRIN1 Zornitza Stark Phenotypes for gene: CAPRIN1 were changed from Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636 to Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636
Genetic Epilepsy v0.2018 CAPRIN1 Zornitza Stark Phenotypes for gene: CAPRIN1 were changed from Neurodevelopmental disorder, CAPRIN1-related MONDO:0700092 to Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636
Genetic Epilepsy v0.2017 CAPRIN1 Zornitza Stark reviewed gene: CAPRIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2017 GLI3 Zornitza Stark Marked gene: GLI3 as ready
Genetic Epilepsy v0.2017 GLI3 Zornitza Stark Gene: gli3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2017 GLI3 Zornitza Stark Classified gene: GLI3 as Green List (high evidence)
Genetic Epilepsy v0.2017 GLI3 Zornitza Stark Gene: gli3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2016 GLI3 Zornitza Stark gene: GLI3 was added
gene: GLI3 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GLI3 were set to Pallister-Hall syndrome, MIM# 146510
Review for gene: GLI3 was set to GREEN
Added comment: Seizures in the setting of hypothalamic hamartomas associated with the Pallister-Hall syndrome (PHS) phenotype which is caused by truncating mutations in the middle third of the gene that produce a truncated functional repressor protein.
Sources: Expert Review
Genetic Epilepsy v0.2015 GCDH Zornitza Stark Marked gene: GCDH as ready
Genetic Epilepsy v0.2015 GCDH Zornitza Stark Gene: gcdh has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2015 GCDH Zornitza Stark Classified gene: GCDH as Green List (high evidence)
Genetic Epilepsy v0.2015 GCDH Zornitza Stark Gene: gcdh has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2014 GCDH Zornitza Stark gene: GCDH was added
gene: GCDH was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCDH were set to 25875215
Phenotypes for gene: GCDH were set to Glutaric aciduria, type I MIM#231670
Review for gene: GCDH was set to GREEN
Added comment: Well established gene-disease association. Seizures present in around 7% of affected individuals.
Sources: Literature
Genetic Epilepsy v0.2013 GATM Zornitza Stark Marked gene: GATM as ready
Genetic Epilepsy v0.2013 GATM Zornitza Stark Gene: gatm has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2013 GATM Zornitza Stark Classified gene: GATM as Amber List (moderate evidence)
Genetic Epilepsy v0.2013 GATM Zornitza Stark Gene: gatm has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2012 GATM Zornitza Stark gene: GATM was added
gene: GATM was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GATM were set to 36856349; 12468279; 20682460; 22386973
Phenotypes for gene: GATM were set to Cerebral creatine deficiency syndrome 3, MIM# 612718
Review for gene: GATM was set to AMBER
Added comment: Seizures described in cerebral creatine disorders in general.
Sources: Expert Review
Genetic Epilepsy v0.2011 GABRA4 Zornitza Stark Marked gene: GABRA4 as ready
Genetic Epilepsy v0.2011 GABRA4 Zornitza Stark Gene: gabra4 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2011 GABRA4 Zornitza Stark gene: GABRA4 was added
gene: GABRA4 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GABRA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRA4 were set to 35152403
Phenotypes for gene: GABRA4 were set to Developmental and epileptic encephalopathy MONDO:0100062, GABRA4-related
Review for gene: GABRA4 was set to RED
Added comment: Single individual with de novo missense variant reported, supportive functional data.
Sources: Literature
Genetic Epilepsy v0.2010 FRA10AC1 Zornitza Stark Classified gene: FRA10AC1 as Amber List (moderate evidence)
Genetic Epilepsy v0.2010 FRA10AC1 Zornitza Stark Gene: fra10ac1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2009 FRA10AC1 Zornitza Stark Marked gene: FRA10AC1 as ready
Genetic Epilepsy v0.2009 FRA10AC1 Zornitza Stark Gene: fra10ac1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2009 FRA10AC1 Zornitza Stark Classified gene: FRA10AC1 as Amber List (moderate evidence)
Genetic Epilepsy v0.2009 FRA10AC1 Zornitza Stark Gene: fra10ac1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2008 FRA10AC1 Zornitza Stark gene: FRA10AC1 was added
gene: FRA10AC1 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: FRA10AC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRA10AC1 were set to 34694367; 35871492; 35821753
Phenotypes for gene: FRA10AC1 were set to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113
Review for gene: FRA10AC1 was set to AMBER
Added comment: 6 families reported, 10 individuals with neurodevelopmental phenotype. 2 had seizures.
Sources: Expert Review
Genetic Epilepsy v0.2007 RBFOX1 Dean Phelan gene: RBFOX1 was added
gene: RBFOX1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: RBFOX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RBFOX1 were set to PMID: 37962958
Phenotypes for gene: RBFOX1 were set to Neurodevelopmental disorder (MONDO:0700092), RBFOX1-related
Review for gene: RBFOX1 was set to GREEN
Added comment: PMID: 37962958
De novo missense variants identified in six unrelated patients with neurodevelopmental disorder and severe seizures.
Sources: Literature
Genetic Epilepsy v0.2007 CRELD1 Zornitza Stark Publications for gene: CRELD1 were set to
Genetic Epilepsy v0.2006 FUK Zornitza Stark Classified gene: FUK as Green List (high evidence)
Genetic Epilepsy v0.2006 FUK Zornitza Stark Gene: fuk has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2005 FUK Zornitza Stark edited their review of gene: FUK: Added comment: PMID: 35718084: Reporting on 3 unrelated patients from literature and 1 new patient. All reported to have mild-severe intellectual disability, developmental delay and brain abnormalities, and 3/4 present with seizures. Phenotypes are childhood onset. Homozygous and compound heterozygous variants have been reported.

PMID: 36426412: Reporting on new 1 patient (homozygous missense). Not affected by intellectual disability, developmental delay, or brain abnormalities. Presents with seizures. Loss of function suggested due to depletion of the FUK gene expression.; Changed rating: GREEN; Changed publications: 30503518, 35718084, 36426412
Genetic Epilepsy v0.2005 SV2A Zornitza Stark Marked gene: SV2A as ready
Genetic Epilepsy v0.2005 SV2A Zornitza Stark Gene: sv2a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2005 SV2A Zornitza Stark Phenotypes for gene: SV2A were changed from Epilepsy, MONDO:0005027 to Neurodevelopmental disorder, MONDO:0700092, SV2A-related
Genetic Epilepsy v0.2004 SV2A Zornitza Stark Classified gene: SV2A as Amber List (moderate evidence)
Genetic Epilepsy v0.2004 SV2A Zornitza Stark Gene: sv2a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2003 SV2A Karina Sandoval changed review comment from: Monoallelic variants cause epilepsy. Biallelic variant in this 5yo (Hom p.Arg383Gln) reported to cause severe phenotype of drug-resistant epileptic encephalopathy with microcephaly, DD, movement disorder and growth retardation. Consanguineous.
This paper references 5 other families with both AR & AD
Family #1 – p.Arg383Gln, AR, 2 affected in family, parents healthy carriers
Family #2 – p.Arg570Cys, AD, 2 affected, inherited from affected mother (in gnomAD v2 1 het, absent from gnomAD v3)
Family #3 – p.Gly660Arg, AD, de novo
Family #4 – p.Gly660Arg, AD, segregated in 11 family members
Family #5 (this study) – p.Arg289Ter, AR, parents and 2 sibs asymptomatic carriers
Sources: Literature; to: Monoallelic variants cause epilepsy. Biallelic variant in this 5yo with p.Arg289Ter and another 5yo from another paper with homozygous p.Arg383Gln, reported to cause severe phenotype of drug-resistant epileptic encephalopathy with microcephaly, DD, movement disorder and growth retardation.
This paper references 5 other families with both AR & AD
Family #1 – p.Arg383Gln, AR, 2 affected in family, parents healthy carriers
Family #2 – p.Arg570Cys, AD, 2 affected, inherited from affected mother (in gnomAD v2 1 het, absent from gnomAD v3)
Family #3 – p.Gly660Arg, AD, de novo
Family #4 – p.Gly660Arg, AD, segregated in 11 family members
Family #5 (this study) – p.Arg289Ter, AR, parents and 2 sibs asymptomatic carriers
Sources: Literature
Genetic Epilepsy v0.2003 SV2A Karina Sandoval changed review comment from: Monoallelic variants cause epilepsy. Biallelic variant in this 5yo (Hom p.Arg383Gln) reported to cause severe phenotype of drug-resistant epileptic encephalopathy with microcephaly, DD, movement disorder and growth retardation. Consanguineous.
This paper references 5 other families with both AR & AD
Family #1 – p.Arg383Gln, AR, 2 affected in family, parents healthy carriers
Family #2 – p.Arg570Cys, AD, 2 affected, inherited from affected mother
Family #3 – p.Gly660Arg, AD, de novo
Family #4 – p.Gly660Arg, AD, segregated in 11 family members
Family #5 (this study) – p.Arg289Ter, AR, parents and 2 sibs asymptomatic carriers
Sources: Literature; to: Monoallelic variants cause epilepsy. Biallelic variant in this 5yo (Hom p.Arg383Gln) reported to cause severe phenotype of drug-resistant epileptic encephalopathy with microcephaly, DD, movement disorder and growth retardation. Consanguineous.
This paper references 5 other families with both AR & AD
Family #1 – p.Arg383Gln, AR, 2 affected in family, parents healthy carriers
Family #2 – p.Arg570Cys, AD, 2 affected, inherited from affected mother (in gnomAD v2 1 het, absent from gnomAD v3)
Family #3 – p.Gly660Arg, AD, de novo
Family #4 – p.Gly660Arg, AD, segregated in 11 family members
Family #5 (this study) – p.Arg289Ter, AR, parents and 2 sibs asymptomatic carriers
Sources: Literature
Genetic Epilepsy v0.2003 SV2A Karina Sandoval gene: SV2A was added
gene: SV2A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SV2A was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SV2A were set to PMID: 37985816
Phenotypes for gene: SV2A were set to Epilepsy, MONDO:0005027
Review for gene: SV2A was set to AMBER
Added comment: Monoallelic variants cause epilepsy. Biallelic variant in this 5yo (Hom p.Arg383Gln) reported to cause severe phenotype of drug-resistant epileptic encephalopathy with microcephaly, DD, movement disorder and growth retardation. Consanguineous.
This paper references 5 other families with both AR & AD
Family #1 – p.Arg383Gln, AR, 2 affected in family, parents healthy carriers
Family #2 – p.Arg570Cys, AD, 2 affected, inherited from affected mother
Family #3 – p.Gly660Arg, AD, de novo
Family #4 – p.Gly660Arg, AD, segregated in 11 family members
Family #5 (this study) – p.Arg289Ter, AR, parents and 2 sibs asymptomatic carriers
Sources: Literature
Genetic Epilepsy v0.2003 CRELD1 Naomi Baker reviewed gene: CRELD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37947183; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), CRELD1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2003 KCNJ3 Zornitza Stark Marked gene: KCNJ3 as ready
Genetic Epilepsy v0.2003 KCNJ3 Zornitza Stark Gene: kcnj3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2003 KCNJ3 Zornitza Stark Classified gene: KCNJ3 as Amber List (moderate evidence)
Genetic Epilepsy v0.2003 KCNJ3 Zornitza Stark Gene: kcnj3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2002 KCNJ3 Zornitza Stark Classified gene: KCNJ3 as Amber List (moderate evidence)
Genetic Epilepsy v0.2002 KCNJ3 Zornitza Stark Gene: kcnj3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2001 KCNJ3 Daniel Flanagan changed review comment from: Two de novo missense variants, p.(Leu333Ser) and p.(Arg313Gln), were identified in two unrelated probands with epilepsy. 1/2 had developmental delay. Whole-cell patch-clamp functional studies showed a significantly reduction in current amplitude and density.
Sources: Expert list; to: Two de novo missense variants, p.(Leu333Ser) and p.(Arg313Gln), were identified in two unrelated probands with epilepsy. 1/2 had developmental delay. Whole-cell patch-clamp functional studies showed a significantly reduction in current amplitude and density.

Kcnj3-knockout mice display hyperactivity and decreased anxiety, while a knock-in mouse line displays spontaneous seizure-like activity.

Sources: Expert list
Genetic Epilepsy v0.2001 KCNJ3 Daniel Flanagan gene: KCNJ3 was added
gene: KCNJ3 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: KCNJ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNJ3 were set to PMID: 37963718
Phenotypes for gene: KCNJ3 were set to Epilepsy (MONDO#0005027), KCNJ3-related
Review for gene: KCNJ3 was set to AMBER
Added comment: Two de novo missense variants, p.(Leu333Ser) and p.(Arg313Gln), were identified in two unrelated probands with epilepsy. 1/2 had developmental delay. Whole-cell patch-clamp functional studies showed a significantly reduction in current amplitude and density.
Sources: Expert list
Genetic Epilepsy v0.2001 GRIA3 Zornitza Stark Publications for gene: GRIA3 were set to 32977175; 17989220
Genetic Epilepsy v0.2000 GRIA3 Zornitza Stark Mode of inheritance for gene: GRIA3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.1999 GRIA3 Zornitza Stark edited their review of gene: GRIA3: Added comment: New manuscript describing ~40 individuals with variants in GRIA3, including affected females. Some variants demonstrated to be LoF and others GoF. LoF variants generally caused a milder phenotype.; Changed publications: 32977175, 17989220, 38038360; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.1999 FOXP1 Zornitza Stark Marked gene: FOXP1 as ready
Genetic Epilepsy v0.1999 FOXP1 Zornitza Stark Gene: foxp1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1999 FOXP1 Zornitza Stark Classified gene: FOXP1 as Green List (high evidence)
Genetic Epilepsy v0.1999 FOXP1 Zornitza Stark Gene: foxp1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1998 FOXP1 Zornitza Stark gene: FOXP1 was added
gene: FOXP1 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXP1 were set to 26633542; 28741757; 34109629
Phenotypes for gene: FOXP1 were set to Intellectual developmental disorder with language impairment with or without autistic features, MIM# 613670
Review for gene: FOXP1 was set to GREEN
Added comment: Well established gene-disease association. Seizures in ~12% according to Gene Reviews.
Sources: Expert Review
Genetic Epilepsy v0.1997 TRAPPC4 Zornitza Stark Phenotypes for gene: TRAPPC4 were changed from intellectual disability; epilepsy; spasticity; microcephaly to Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, MIM# 618741
Genetic Epilepsy v0.1996 TRAPPC4 Zornitza Stark edited their review of gene: TRAPPC4: Changed phenotypes: Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, MIM# 618741
Genetic Epilepsy v0.1996 AMACR Zornitza Stark Phenotypes for gene: AMACR were changed from ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY MIM#614307 to Alpha-methylacyl-CoA racemase deficiency, MIM# 614307
Genetic Epilepsy v0.1995 KRAS Zornitza Stark Tag somatic tag was added to gene: KRAS.
Genetic Epilepsy v0.1995 KRAS Elena Savva Marked gene: KRAS as ready
Genetic Epilepsy v0.1995 KRAS Elena Savva Gene: kras has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1995 KRAS Elena Savva Phenotypes for gene: KRAS were changed from to Oculoectodermal syndrome, somatic MIM#600268; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic MIM#163200
Genetic Epilepsy v0.1995 KRAS Elena Savva Publications for gene: KRAS were set to
Genetic Epilepsy v0.1995 KRAS Elena Savva Mode of pathogenicity for gene: KRAS was changed from to Other
Genetic Epilepsy v0.1995 KRAS Elena Savva Mode of inheritance for gene: KRAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genetic Epilepsy v0.1994 KRAS Elena Savva edited their review of gene: KRAS: Added comment: PMID: 37126322 - somatic variants Drug-Resistant mesial temporal lobe epilepsy, variants are all located in mutational hot spots for cancer and neurodevelopmental disorders. Probands x2 (p.G12D) had mesial temporal sclerosis and/or focal cortical dysplasia

PMID: 37722300 - 14-month-old boy with Schimmelpenning syndrome (KRAS p.G12D, postzygotic somatic mutation) with refractory epilepsy; Changed publications: PMID: 37126322, 37722300; Changed phenotypes: Oculoectodermal syndrome, somatic MIM#600268, Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic MIM#163200
Genetic Epilepsy v0.1994 AMACR Elena Savva Phenotypes for gene: AMACR were changed from Alpha-methylacyl-CoA racemase deficiency (MIM#614307) to ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY MIM#614307
Genetic Epilepsy v0.1993 AMACR Elena Savva Phenotypes for gene: AMACR were changed from ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY - 614307 to Alpha-methylacyl-CoA racemase deficiency (MIM#614307)
Genetic Epilepsy v0.1992 AMACR Elena Savva Publications for gene: AMACR were set to (PMID:35428665; 21576695; 11060344; 21686617
Genetic Epilepsy v0.1991 COL4A2 Zornitza Stark Phenotypes for gene: COL4A2 were changed from Cerebral Palsy MONDO#0006497, COL4A2-related; Brain small vessel disease 2 MIM# 614483 to Cerebral Palsy MONDO#0006497, COL4A2-related; Brain small vessel disease 2 MIM# 614483
Genetic Epilepsy v0.1990 COL4A2 Zornitza Stark Marked gene: COL4A2 as ready
Genetic Epilepsy v0.1990 COL4A2 Zornitza Stark Gene: col4a2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1990 COL4A2 Zornitza Stark Phenotypes for gene: COL4A2 were changed from Cerebral Palsy MONDO#0006497, COL4A2-related; Brain small vessel disease 2 MIM# 614483 to Cerebral Palsy MONDO#0006497, COL4A2-related; Brain small vessel disease 2 MIM# 614483
Genetic Epilepsy v0.1990 COL4A2 Zornitza Stark Phenotypes for gene: COL4A2 were changed from to Cerebral Palsy MONDO#0006497, COL4A2-related; Brain small vessel disease 2 MIM# 614483
Genetic Epilepsy v0.1989 COL4A2 Zornitza Stark Publications for gene: COL4A2 were set to
Genetic Epilepsy v0.1988 COL4A2 Zornitza Stark Mode of inheritance for gene: COL4A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1987 COL4A2 Zornitza Stark reviewed gene: COL4A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral Palsy MONDO#0006497, COL4A2-related, Brain small vessel disease 2 MIM# 614483; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1987 COL4A1 Zornitza Stark Marked gene: COL4A1 as ready
Genetic Epilepsy v0.1987 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1987 COL4A1 Zornitza Stark Phenotypes for gene: COL4A1 were changed from to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773; Brain small vessel disease with or without ocular anomalies MIM#175780; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564
Genetic Epilepsy v0.1986 COL4A1 Zornitza Stark Publications for gene: COL4A1 were set to
Genetic Epilepsy v0.1985 COL4A1 Zornitza Stark Mode of inheritance for gene: COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1984 COL4A1 Zornitza Stark changed review comment from: Seizures are secondary.; to: Seizures are secondary but described. Included for completeness.
Genetic Epilepsy v0.1984 COL4A1 Zornitza Stark reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773, Brain small vessel disease with or without ocular anomalies MIM#175780, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1984 ALG2 Zornitza Stark Marked gene: ALG2 as ready
Genetic Epilepsy v0.1984 ALG2 Zornitza Stark Gene: alg2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1984 ALG2 Zornitza Stark Phenotypes for gene: ALG2 were changed from CONGENITAL MYASTHENIC SYNDROME - MIM # 616228; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii - MIM ## 607906 to Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228; Congenital disorder of glycosylation, type Ii, MIM# 607906
Genetic Epilepsy v0.1983 ALG2 Zornitza Stark Classified gene: ALG2 as Red List (low evidence)
Genetic Epilepsy v0.1983 ALG2 Zornitza Stark Gene: alg2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1982 ALG2 Zornitza Stark reviewed gene: ALG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228, Congenital disorder of glycosylation, type Ii, MIM# 607906; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1982 AMACR Zornitza Stark Marked gene: AMACR as ready
Genetic Epilepsy v0.1982 AMACR Zornitza Stark Gene: amacr has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1982 AMACR Zornitza Stark Classified gene: AMACR as Green List (high evidence)
Genetic Epilepsy v0.1982 AMACR Zornitza Stark Gene: amacr has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1981 ARID1A Zornitza Stark Marked gene: ARID1A as ready
Genetic Epilepsy v0.1981 ARID1A Zornitza Stark Gene: arid1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1981 ARID1A Zornitza Stark Phenotypes for gene: ARID1A were changed from Coffin-Siris Syndrome 2 to Coffin-Siris syndrome 2 #614607
Genetic Epilepsy v0.1980 ARID1A Zornitza Stark Classified gene: ARID1A as Green List (high evidence)
Genetic Epilepsy v0.1980 ARID1A Zornitza Stark Gene: arid1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1979 ARID1A Zornitza Stark reviewed gene: ARID1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coffin-Siris syndrome 2 #614607; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1979 AP3D1 Zornitza Stark Marked gene: AP3D1 as ready
Genetic Epilepsy v0.1979 AP3D1 Zornitza Stark Gene: ap3d1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1979 AP3D1 Zornitza Stark Phenotypes for gene: AP3D1 were changed from HERMANSKY-PUDLAK SYNDROME 10 to Hermansky-Pudlak syndrome 10, MIM# 617050
Genetic Epilepsy v0.1978 AP3D1 Zornitza Stark Classified gene: AP3D1 as Amber List (moderate evidence)
Genetic Epilepsy v0.1978 AP3D1 Zornitza Stark Gene: ap3d1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1977 AP3D1 Zornitza Stark reviewed gene: AP3D1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 10, MIM# 617050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1977 ARSA Zornitza Stark Marked gene: ARSA as ready
Genetic Epilepsy v0.1977 ARSA Zornitza Stark Gene: arsa has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1977 ARSA Zornitza Stark Classified gene: ARSA as Green List (high evidence)
Genetic Epilepsy v0.1977 ARSA Zornitza Stark Gene: arsa has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1976 ARSA Zornitza Stark reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Metachromatic leukodystrophy - # 250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1976 ASPM Zornitza Stark Marked gene: ASPM as ready
Genetic Epilepsy v0.1976 ASPM Zornitza Stark Gene: aspm has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1976 ASPM Zornitza Stark Classified gene: ASPM as Green List (high evidence)
Genetic Epilepsy v0.1976 ASPM Zornitza Stark Gene: aspm has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1975 ASPM Zornitza Stark reviewed gene: ASPM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary autosomal recessive Microcephaly 5 - OMIM #608716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1975 ASPM John Coleman gene: ASPM was added
gene: ASPM was added to Genetic Epilepsy. Sources: Expert Review,Literature,ClinGen
Mode of inheritance for gene: ASPM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASPM were set to (PMID:32239881; 19770472; 18452193; 16141009)
Phenotypes for gene: ASPM were set to Primary autosomal recessive Microcephaly 5 - OMIM #608716
Added comment: Known microcephaly gene (AR). Seizures reported in around 15% of cases (GENEREVIEWS). Seizures reported on OMIM. Clingen curated seizures is a feature of this gene. Primary feature microcephaly. Various seizure types focal or tonic and tonic-clonic generalized seizures have been reported. 3 of 18 patients in a neurology cohort with later onset seizures PMID 19770472, another case of a female age 5 with 2 seizures, not needing treatment PMID 18452193, and a third publication with 2 of 3 affected family members with seizure phenotype tonic clonic/ clonic PMID 16141009.
Sources: Expert Review, Literature, ClinGen
Genetic Epilepsy v0.1975 ARSA John Coleman gene: ARSA was added
gene: ARSA was added to Genetic Epilepsy. Sources: Expert Review,Literature
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARSA were set to (PMID: 33195324; 10987380; 37359369; 20301309; 36324388; 19021637)
Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy - # 250100; Arylsulfatase A deficiency
Added comment: Arylsulfatase A deficiency (also known as metachromatic leukodystrophy or MLD) is characterized by three clinical subtypes: late-infantile MLD, juvenile MLD, and adult MLD. Typical features: lysosomal storage disorder, CNS abnormalities, dev delay and regression. Neuropsychiatric features. Seizures reported in all subtypes (GENEREVIEWS, OMIM, Review article 33195324). Later onset cases (2 in 10987380), 2 early onset cases (37359369) in consanguineous families. Also reported in a male with compunder heterozygous variants (36324388). 3 out of 6 patients in a Polish pediatric cohort with different mutations had seizures (clonic, tonic clonic) onset from as early as 7 months.
Sources: Expert Review, Literature
Genetic Epilepsy v0.1975 ARID1A John Coleman changed review comment from: Coffin siris type 2 - seizures present in some but not all patients. Known haploinsufficiency of ARID1A and association with seizures presentation & type (34942405). Seizure reported on OMIM. Multiple reports of affected and unaffected. Seizures in 2/9 patients in case series (25168959). 6 year old female with classic features of CS and fever provoked tonic clonic seizures (33303725). A female Chinese patient 24 days old with ARID1A and seizures with hypotonia (35571021- supplementary table 1). Paper from Zurich with 1 patient described in a CS cohort with ARID1A and seizures (23906836). Review article of 63 CS patients described another 1 of 4 patients with seizures (23929686)
Sources: Literature, Expert Review; to: Coffin Siris type 2 - seizures present in some but not all patients. Known haploinsufficiency of ARID1A and association with seizures presentation & type (34942405). Seizure reported on OMIM. Multiple reports of affected and unaffected. Seizures in 2/9 patients in case series (25168959). 6 year old female with classic features of CS and fever provoked tonic clonic seizures (33303725). A female Chinese patient 24 days old with ARID1A and seizures with hypotonia (35571021- supplementary table 1). Paper from Zurich with 1 patient described in a CS cohort with ARID1A and seizures (23906836). Review article of 63 CS patients described another 1 of 4 patients with seizures (23929686)
Sources: Literature, Expert Review
Genetic Epilepsy v0.1975 ARID1A John Coleman changed review comment from: Coffin siris type 2 - seizures present in some but not all patients. Known haploinsufficiency of ARID1A and association with seizures (34942405). Seizure reported on OMIM. Multiple reports of variable seizures. Seizures in 2/9 patients in case series (25168959). 6 year old female with classic features of CS and fever provoked tonic clonic seizures (33303725). A female Chinese patient 24 days old with ARID1A and seizures with hypotonia (35571021- supplementary table 1). Paper from Zurich with 1 patient described in a CS cohort with ARID1A and seizures (23906836). Review article of 63 CS patients described another 1 of 4 patients with seizures (23929686)
Sources: Literature, Expert Review; to: Coffin siris type 2 - seizures present in some but not all patients. Known haploinsufficiency of ARID1A and association with seizures presentation & type (34942405). Seizure reported on OMIM. Multiple reports of affected and unaffected. Seizures in 2/9 patients in case series (25168959). 6 year old female with classic features of CS and fever provoked tonic clonic seizures (33303725). A female Chinese patient 24 days old with ARID1A and seizures with hypotonia (35571021- supplementary table 1). Paper from Zurich with 1 patient described in a CS cohort with ARID1A and seizures (23906836). Review article of 63 CS patients described another 1 of 4 patients with seizures (23929686)
Sources: Literature, Expert Review
Genetic Epilepsy v0.1975 ARID1A John Coleman gene: ARID1A was added
gene: ARID1A was added to Genetic Epilepsy. Sources: Literature,Expert Review
Mode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARID1A were set to (PMID:34942405; 25168959; 33303725; 35571021; 23906836; 23929686)
Phenotypes for gene: ARID1A were set to Coffin-Siris Syndrome 2
Review for gene: ARID1A was set to GREEN
Added comment: Coffin siris type 2 - seizures present in some but not all patients. Known haploinsufficiency of ARID1A and association with seizures (34942405). Seizure reported on OMIM. Multiple reports of variable seizures. Seizures in 2/9 patients in case series (25168959). 6 year old female with classic features of CS and fever provoked tonic clonic seizures (33303725). A female Chinese patient 24 days old with ARID1A and seizures with hypotonia (35571021- supplementary table 1). Paper from Zurich with 1 patient described in a CS cohort with ARID1A and seizures (23906836). Review article of 63 CS patients described another 1 of 4 patients with seizures (23929686)
Sources: Literature, Expert Review
Genetic Epilepsy v0.1975 AP3D1 John Coleman gene: AP3D1 was added
gene: AP3D1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: AP3D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP3D1 were set to (PMID: 26744459; 30472485; 19032734; 36445457
Phenotypes for gene: AP3D1 were set to HERMANSKY-PUDLAK SYNDROME 10
Review for gene: AP3D1 was set to AMBER
Added comment: First family Turkish consanguineous with with severe neurologic impairment, albinism, and immunodeficiency. PTC variant. Progressive epilepsy with intractable seizures (myoclonic jerks/ tonic clonic) and passed away 3.5 years (PMID: 26744459). Features of this case included infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures. Another consanguineous family with Frameshift variants with 1 male and 2 females with seizures seizures (male 10 years, females shortly after birth), tonic clonic (PMID: 30472485) and other features of Hermansky-Pudlak Syndrome 10 (including platelet defects, oculocutaneous albinism, and immunodeficiency). Mouse model (19032734) shows knock out of AP3D1 shows albinism characteristics, difference in input resistance of the neurons, a difference in the synaptic short-term plasticity of glutamatergic autapses showing a larger synaptic depression than controls. 2023 paper (PMID 36445457) shows a family with missense homozygous variants - they present with hearing loss, 2 siblings with neurodevelopmental delay and 2 with abnormality of the brain structurally, no reported seizures in this family. 2 affected families with PTCs but seizure phenotype not clear in all cases. Imp: moderate evidence
Sources: Literature
Genetic Epilepsy v0.1975 AMACR John Coleman gene: AMACR was added
gene: AMACR was added to Genetic Epilepsy. Sources: Literature,Expert Review
Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMACR were set to (PMID:35428665; 21576695; 11060344; 21686617
Phenotypes for gene: AMACR were set to ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY - 614307
Penetrance for gene: AMACR were set to unknown
Review for gene: AMACR was set to GREEN
Added comment: Autosomal recessive affecting AMACR enzyme which is active in the mitochondrial & peroxisome. AMACR deficiency and Congenital Bile Acid Synthesis Defect 4 are distinctive phenotypes. Epilepsy a feature of AMACR deficiency on OMIM. AMACR deficiency reported in adults with later onset tonic clonic seizures in a 58 year old male, also had cerebellar features. Second case of female in her 70s with lacosamide responsive seizures and other neurological manifestations. Case series (Thompson et al 2009) - 44 year old male seizures onset at age 18, 52 year old female seizure onset 50s, and 57 y/o female tonic clonic seizures onset at age 13. Variable condition.
Sources: Literature, Expert Review
Genetic Epilepsy v0.1975 ALG2 John Coleman gene: ALG2 was added
gene: ALG2 was added to Genetic Epilepsy. Sources: Literature,NHS GMS
Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG2 were set to (PMID:12684507; 28733338; 28007376)
Phenotypes for gene: ALG2 were set to CONGENITAL MYASTHENIC SYNDROME - MIM # 616228; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii - MIM ## 607906
Review for gene: ALG2 was set to RED
Added comment: Red list on NHS panel app. Literature search shows one case with reported seizures although limited phenotype given at 1 year, patient was normal at birth apart from coloboma (Thiel 2003). no other cases on pubmed or literature wider search. Phenotype appears to present with varying onset of myasthenic syndrome with myopathic features. ALG2 not specifically linked with epilepsy phenotype in the literature the way other CDGS are. Developmental delay also a neurodevelopmental feature.
Sources: Literature, NHS GMS
Genetic Epilepsy v0.1975 TRMT10A Zornitza Stark Marked gene: TRMT10A as ready
Genetic Epilepsy v0.1975 TRMT10A Zornitza Stark Gene: trmt10a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1975 TRMT10A Zornitza Stark Phenotypes for gene: TRMT10A were changed from microcephaly; diabetes; intellectual disability; epilepsy to Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033
Genetic Epilepsy v0.1974 TRMT10A Zornitza Stark Classified gene: TRMT10A as Green List (high evidence)
Genetic Epilepsy v0.1974 TRMT10A Zornitza Stark Gene: trmt10a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1973 SAMD12 Zornitza Stark Tag STR tag was added to gene: SAMD12.
Genetic Epilepsy v0.1973 ACTB Zornitza Stark Marked gene: ACTB as ready
Genetic Epilepsy v0.1973 ACTB Zornitza Stark Gene: actb has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1973 ACTB Zornitza Stark Phenotypes for gene: ACTB were changed from Seizures; Epilepsy to Baraitser-Winter syndrome 1 243310 Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475
Genetic Epilepsy v0.1972 ACTB Zornitza Stark Classified gene: ACTB as Green List (high evidence)
Genetic Epilepsy v0.1972 ACTB Zornitza Stark Gene: actb has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1971 ACY1 Zornitza Stark Marked gene: ACY1 as ready
Genetic Epilepsy v0.1971 ACY1 Zornitza Stark Gene: acy1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1971 ACY1 Zornitza Stark Phenotypes for gene: ACY1 were changed from Seizures; Epilepsy; Febrile Seizures to Aminoacylase 1 deficiency, MIM# 609924
Genetic Epilepsy v0.1970 ACY1 Zornitza Stark Classified gene: ACY1 as Green List (high evidence)
Genetic Epilepsy v0.1970 ACY1 Zornitza Stark Gene: acy1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1969 ADCY5 Zornitza Stark Marked gene: ADCY5 as ready
Genetic Epilepsy v0.1969 ADCY5 Zornitza Stark Gene: adcy5 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1969 ADCY5 Zornitza Stark Phenotypes for gene: ADCY5 were changed from to Dyskinesia with orofacial involvement MIM#606703
Genetic Epilepsy v0.1968 ADCY5 Zornitza Stark Classified gene: ADCY5 as Red List (low evidence)
Genetic Epilepsy v0.1968 ADCY5 Zornitza Stark Gene: adcy5 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1967 ADCY5 Zornitza Stark reviewed gene: ADCY5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskinesia with orofacial involvement MIM#606703; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1967 ADNP Zornitza Stark Marked gene: ADNP as ready
Genetic Epilepsy v0.1967 ADNP Zornitza Stark Gene: adnp has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1967 ADNP Zornitza Stark Phenotypes for gene: ADNP were changed from Seizures; Epilpesy; Focal Seizures; Absence seizures to Helsmoortel-van der Aa syndrome MIM#615873
Genetic Epilepsy v0.1966 ADNP Zornitza Stark Classified gene: ADNP as Green List (high evidence)
Genetic Epilepsy v0.1966 ADNP Zornitza Stark Gene: adnp has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1965 BET1 Zornitza Stark Phenotypes for gene: BET1 were changed from Muscular dystrophy; Epilepsy to Muscular dystrophy MONDO:0020121
Genetic Epilepsy v0.1964 BET1 Zornitza Stark Classified gene: BET1 as Red List (low evidence)
Genetic Epilepsy v0.1964 BET1 Zornitza Stark Gene: bet1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1963 CLCN2 Zornitza Stark Publications for gene: CLCN2 were set to 23707145; 19191339; 20037607; 19710712
Genetic Epilepsy v0.1962 AFDN Zornitza Stark Phenotypes for gene: AFDN were changed from to Epilepsy, MONDO:0015653
Genetic Epilepsy v0.1961 AFDN Zornitza Stark Marked gene: AFDN as ready
Genetic Epilepsy v0.1961 AFDN Zornitza Stark Gene: afdn has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1961 AFDN Zornitza Stark Classified gene: AFDN as Red List (low evidence)
Genetic Epilepsy v0.1961 AFDN Zornitza Stark Gene: afdn has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1960 AFDN Zornitza Stark Tag SV/CNV tag was added to gene: AFDN.
Genetic Epilepsy v0.1960 CNTN2 Zornitza Stark Phenotypes for gene: CNTN2 were changed from Epilepsy, MONDO:0015653, CNTN2-related to Epilepsy, MONDO:0015653, CNTN2-related; Epilepsy, myoclonic, familial adult, 5 MIM#615400
Genetic Epilepsy v0.1959 CNTN2 Zornitza Stark Classified gene: CNTN2 as Green List (high evidence)
Genetic Epilepsy v0.1959 CNTN2 Zornitza Stark Gene: cntn2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1958 AGA Zornitza Stark Marked gene: AGA as ready
Genetic Epilepsy v0.1958 AGA Zornitza Stark Gene: aga has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1958 AGA Zornitza Stark Phenotypes for gene: AGA were changed from to Aspartylglucosaminuria, MIM# 208400
Genetic Epilepsy v0.1957 AGA Zornitza Stark Classified gene: AGA as Green List (high evidence)
Genetic Epilepsy v0.1957 AGA Zornitza Stark Gene: aga has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1956 ALDH3A2 Zornitza Stark Marked gene: ALDH3A2 as ready
Genetic Epilepsy v0.1956 ALDH3A2 Zornitza Stark Gene: aldh3a2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1956 ALDH3A2 Zornitza Stark Phenotypes for gene: ALDH3A2 were changed from to Sjogren-Larsson syndrome, MIM# 270200
Genetic Epilepsy v0.1955 ALDH3A2 Zornitza Stark Classified gene: ALDH3A2 as Green List (high evidence)
Genetic Epilepsy v0.1955 ALDH3A2 Zornitza Stark Gene: aldh3a2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1954 FA2H Zornitza Stark Marked gene: FA2H as ready
Genetic Epilepsy v0.1954 FA2H Zornitza Stark Gene: fa2h has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1954 FA2H Zornitza Stark Classified gene: FA2H as Green List (high evidence)
Genetic Epilepsy v0.1954 FA2H Zornitza Stark Gene: fa2h has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1953 FA2H Zornitza Stark gene: FA2H was added
gene: FA2H was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FA2H were set to 29423566
Phenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive, MIM#611026
Review for gene: FA2H was set to GREEN
Added comment: Well established gene-disease association, both peripheral and central features, childhood-onset, progressive. Epilepsy reported in multiple individuals.
Sources: Expert Review
Genetic Epilepsy v0.1952 EMC1 Zornitza Stark Marked gene: EMC1 as ready
Genetic Epilepsy v0.1952 EMC1 Zornitza Stark Gene: emc1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1952 EMC1 Zornitza Stark Classified gene: EMC1 as Green List (high evidence)
Genetic Epilepsy v0.1952 EMC1 Zornitza Stark Gene: emc1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1951 EMC1 Zornitza Stark gene: EMC1 was added
gene: EMC1 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: EMC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EMC1 were set to 35234901; 26942288
Phenotypes for gene: EMC1 were set to Neurodevelopmental disorder, MONDO:0700092, EMC1-related
Review for gene: EMC1 was set to GREEN
Added comment: Chung et al 2022 (PMID: 35234901) report 3 unrelated children with severe to profound developmental delay, truncal hypotonia, seizures and cortical visual impairment. A c.1745C > A; p.Pro582His (de novo) variant in EMC1 was found in 2 of the individuals. The other child had EMC1 c.1745C > G; p.Pro582Arg (mosaic; not inherited from mother, father deceased). Variants were identified by WES and confirmed by Sanger sequencing. In a Drosophila model the identified variants didn't rescue the lethality of a null allele. They also found variations in dosage of the wild-type EMC1, specifically in glia, lead to pupal lethality.

Note variants in this gene are associated with an AR condition as well, but seizures not part of the phenotype.
Sources: Expert Review
Genetic Epilepsy v0.1950 ALDH3A2 John Coleman edited their review of gene: ALDH3A2: Changed rating: GREEN; Changed phenotypes: Epilepsy, Seizures, Generalized Tonic Clonic Seizures
Genetic Epilepsy v0.1950 ALDH3A2 John Coleman changed review comment from: Established gene with variable neurocutaneous phenotype. Causes an inborn error of lipid metabolism. Can present in seizures estimated 35-40% in review paper. Multiple published cases with GTC being the predominant seizure type. Seizures a common feature reported on OMIM. Multiple epilepsy cases reported across various differing cohorts (Northern Europe, Belgium, German, Egypt). Curated on the multiple other panels including intellectual delay, itchyiosis, Mendeliome, leukodystophy, and metabolic disoders.

Sources: Expert Review, Literature; to: Established gene with variable neurocutaneous phenotype. Causes an inborn error of lipid metabolism. Can present in seizures estimated 35-40% in review paper. Multiple published cases with GTC being the predominant seizure type. Seizures a common feature reported on OMIM. Multiple epilepsy cases reported across various differing cohorts (Northern Europe, Belgium, German, Egypt). Curated on the multiple other panels including intellectual delay, Ichthyosis, Mendeliome, leukodystrophy, and metabolic disorders.

Sources: Expert Review, Literature
Genetic Epilepsy v0.1950 ALDH3A2 John Coleman changed review comment from: Established gene with variable neurocutaneous phenotype. Can present in seizures estimaed 35-40% in review paper. Multiple published cases with GTC
Sources: Expert Review, Literature; to: Established gene with variable neurocutaneous phenotype. Causes an inborn error of lipid metabolism. Can present in seizures estimated 35-40% in review paper. Multiple published cases with GTC being the predominant seizure type. Seizures a common feature reported on OMIM. Multiple epilepsy cases reported across various differing cohorts (Northern Europe, Belgium, German, Egypt). Curated on the multiple other panels including intellectual delay, itchyiosis, Mendeliome, leukodystophy, and metabolic disoders.

Sources: Expert Review, Literature
Genetic Epilepsy v0.1950 ALDH3A2 John Coleman gene: ALDH3A2 was added
gene: ALDH3A2 was added to Genetic Epilepsy. Sources: Expert Review,Literature
Mode of inheritance for gene: ALDH3A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ALDH3A2 were set to (PMID:32021380,30372562
Added comment: Established gene with variable neurocutaneous phenotype. Can present in seizures estimaed 35-40% in review paper. Multiple published cases with GTC
Sources: Expert Review, Literature
Genetic Epilepsy v0.1950 AGA John Coleman edited their review of gene: AGA: Changed phenotypes: Seizures, Epilepsy
Genetic Epilepsy v0.1950 AGA John Coleman gene: AGA was added
gene: AGA was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGA were set to (PMID: 33439067; 8333236; 19175389; 15036433; 8064811; 8946839; 1756604)
Review for gene: AGA was set to GREEN
Added comment: ASPARTYLGLUCOSAMINURIA (amino acid disorder) a severe lysosomal recessive disorder presenting with CNS, skeletal and connective tissue manifestations. Seizures or epilpesy of various types recorded across the literature. A Finnish cohort reported 1 child and 22 adults with epilepsy. Likely a founder finish mutation common with some cases in Norway and Sweden reported. Case reports of startle epilepsy and Sleep-related hypermotor seizures in aspartylglucosaminuria are also present. Japanese family with 2 siblings with seizures reported outside of common Finnish variant.
Sources: Literature
Genetic Epilepsy v0.1950 CNTN2 Lilian Downie reviewed gene: CNTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37359369; Phenotypes: ?Epilepsy, myoclonic, familial adult, 5 MIM#615400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1950 AFDN John Coleman gene: AFDN was added
gene: AFDN was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: AFDN was set to Unknown
Publications for gene: AFDN were set to (PMID: 31690835; 9679199)
Review for gene: AFDN was set to RED
Added comment: Limited information regarding this gene. 1 published case with epilepsy reported on clinvar however this is part of a CNV deletion involving multiple other genes at the locus. No neurological phenotype reported apart from a gene as part of larger CNV changes at the locus (terminal 6q deletions) with multiple other genes implicated. Clinical phenotype not on ClinGen, No neurological phenotype reported on OMIM. Pubmed and other literature search returns no results for "AFDN" and "seizures", "seizure" or "AFDN" and "epilepsy". Not included on other testing panels (panelapp UK). Previous cytogenetic and animal models suggested implication in T6,11 with MLL.
Sources: Literature
Genetic Epilepsy v0.1950 CLCN2 Lilian Downie reviewed gene: CLCN2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 36374051; Phenotypes: Epilepsy susceptibility MIM#607628; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1950 BET1 Lilian Downie reviewed gene: BET1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34779586; Phenotypes: Muscular dystrophy MONDO:0020121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1950 ADNP John Coleman gene: ADNP was added
gene: ADNP was added to Genetic Epilepsy. Sources: Literature,Expert Review
Mode of inheritance for gene: ADNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADNP were set to (PMID: 27054228; 24531329)
Phenotypes for gene: ADNP were set to Seizures; Epilpesy; Focal Seizures; Absence seizures
Review for gene: ADNP was set to GREEN
Added comment: ADNP related disorders. Review paper showing 12 of 78 patient cohort with seizures of various types - focal, absence. Other features: hypotonia, developmental delay, mild-to-severe intellectual disability, facial dysmorphic features, behavioral problems, sleep disturbance, brain abnormalities, feeding issues, gastrointestinal problems, visual dysfunction, musculoskeletal anomalies, endocrine issues including short stature and hormonal deficiencies, cardiac and urinary tract anomalies & hearing loss. An older cohort showed 2 of 10 individuals with seizures. Seizures is not the predominant phenotype but a feature in some cases.
Sources: Literature, Expert Review
Genetic Epilepsy v0.1950 ADCY5 John Coleman gene: ADCY5 was added
gene: ADCY5 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ADCY5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ADCY5 were set to (PMID: 36003298; 33564903; 27061943)
Review for gene: ADCY5 was set to AMBER
Added comment: AD and AR dyskinesia phenotype. Only one confirmed case of epilepsy of 119 cases, 2 suspected but unconfirmed. Strong dyskinesia phenotype that may have similar overlapping features. Epilepsy/ seizures not a reported phenotype on OMIM. No other cases reported on literature search. Gene not curated on ClinGen. Dystonia, myoclonus and choreoathetosis the predominant phenotype (gene included in Mediliome, CP, channelopathies, dystonia and dyskinesia panels). Caution regarding overlap of epilepsy features and phenotyping but appears to have distinct dyskinesia phenotype. ?Moderate Vs limited evidence.
Sources: Literature
Genetic Epilepsy v0.1950 ACY1 John Coleman edited their review of gene: ACY1: Changed rating: GREEN
Genetic Epilepsy v0.1950 ACY1 John Coleman changed review comment from: Known ACY1 amino acid disorder with neurological phenotype. Seizures reported as a feature on OMIM. Phenotype includes seizures both febrile and afebrile. One paper with 3 families (1 German, 1 English and 1 Romani) with seizure phenotype. 2 other publications with seizure phenotype. Seizures reported strongly with intercurrent illness.
Sources: Literature; to: Known ACY1 amino acid disorder with neurological phenotype. Seizures reported as a feature on OMIM. Phenotype includes seizures both febrile and afebrile. One paper with 3 families (1 German, 1 English and 1 Romani) with seizure phenotype. 2 other publications with seizure phenotype. Seizures reported strongly with intercurrent illness.
Sources: Literature
Genetic Epilepsy v0.1950 ACY1 John Coleman gene: ACY1 was added
gene: ACY1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACY1 were set to (PMID: 16465618,16274666, 24117009)
Phenotypes for gene: ACY1 were set to Seizures; Epilepsy; Febrile Seizures
Penetrance for gene: ACY1 were set to unknown
Added comment: Known ACY1 amino acid disorder with neurological phenotype. Seizures reported as a feature on OMIM. Phenotype includes seizures both febrile and afebrile. One paper with 3 families (1 German, 1 English and 1 Romani) with seizure phenotype. 2 other publications with seizure phenotype. Seizures reported strongly with intercurrent illness.
Sources: Literature
Genetic Epilepsy v0.1950 ACTB John Coleman gene: ACTB was added
gene: ACTB was added to Genetic Epilepsy. Sources: Literature,Expert Review
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTB were set to (PMID:22366783,25052316,31970217)
Phenotypes for gene: ACTB were set to Seizures; Epilepsy
Review for gene: ACTB was set to GREEN
Added comment: Missense variants cause gain of function and are associated with Baraitser-Winter syndrome. PTC variants result in haploinsufficiency (loss of function) and cause a similar, but distinct phenotype to Baraitser-Winter syndrome. Seizures reported in 50% of cases with ACTB (GENEREVIEWS). 9 individuals with Baraitser-Winter with epilepsy in one paper and 13 with epilepsy in another review. Estimated 50% with Baraitser-Winter with seizures. Seizures also reported in one case of the LOF distinctive Dystonia-deafness syndrome (Brazilian woman).
Sources: Literature, Expert Review
Genetic Epilepsy v0.1950 WNK3 Zornitza Stark Phenotypes for gene: WNK3 were changed from Neurodevelopmental disorder, WNK3-related (MONDO#0700092) to Prieto syndrome, MIM# 309610
Genetic Epilepsy v0.1949 WNK3 Zornitza Stark edited their review of gene: WNK3: Changed phenotypes: Prieto syndrome, MIM# 309610
Genetic Epilepsy v0.1949 ABHD16A Zornitza Stark Marked gene: ABHD16A as ready
Genetic Epilepsy v0.1949 ABHD16A Zornitza Stark Gene: abhd16a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1949 ABHD16A Zornitza Stark Phenotypes for gene: ABHD16A were changed from seizures; myoclonic seizures; developmental delay to Spastic paraplegia 86, autosomal recessive, MIM# 619735; seizures; myoclonic seizures; developmental delay
Genetic Epilepsy v0.1948 ABHD16A Zornitza Stark Classified gene: ABHD16A as Amber List (moderate evidence)
Genetic Epilepsy v0.1948 ABHD16A Zornitza Stark Gene: abhd16a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1947 ABHD16A Zornitza Stark reviewed gene: ABHD16A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 86, autosomal recessive, MIM# 619735; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1947 ABHD16A John Coleman changed review comment from: 11 individuals from 6 families with loss of function, bi-allelic variants in ABHD16A. 2 unrelated families (1 French-Canadian, 1 Armenian) with different homozygous variants have seizures reported. 1 patient with myoclonic seizure type reported. No direct phenotype for other patient. Immunoblot from the fibroblasts demonstrated recued ABHD16A for these families. Strong neurodevelopmental phenotype. Other paper with Homozygotes family 1 of 4 individuals presenting with febrile convulsions. ABHD16A is a phospholipase that converts PS to Lyso PS. It is present in all cell types but most abundant in neurological tissue and involved in a key process of neurophysiology. Present in callosome, intellectual disability and HSP panels.
Sources: Literature; to: 11 individuals from 6 families with loss of function, bi-allelic variants in ABHD16A. 2 unrelated families (1 French-Canadian, 1 Armenian) with different homozygous variants have seizures reported. 1 patient with myoclonic seizure type reported. No direct phenotype for other patient. Immunoblot from the fibroblasts demonstrated recued ABHD16A for these families. Strong neurodevelopmental phenotype. Other paper with Homozygotes family 1 of 4 individuals presenting with febrile convulsions. ABHD16A is a phospholipase that converts PS to Lyso PS. It is present in all cell types but most abundant in neurological tissue and involved in a key process of neurophysiology. Present in callosome, intellectual disability and HSP panels. ?Moderate
Sources: Literature
Genetic Epilepsy v0.1947 ABHD16A John Coleman changed review comment from: 11 individuals from 6 families with loss of function, bi-allelic variants in ABHD16A. 2 unrelated families (1 French-Canadian, 1 Armenian) with different homozygous variants have seizures reported. 1 patient with myoclonic seizure type reported. No direct phenotype for other patient. Immunoblot from the fibroblasts demonstrated recued ABHD16A for these families. Strong neurodevelopmental phenotype. Other paper with Homozygotes family 1 of 4 individuals presenting with febrile convulsions ABHD16A is a phospholipase that converts PS to Lyso PS. It is present in all cell types but most abundant in neurological tissue and involved in a key process of neurophysiology. Present in callosome, intellectual disability and HSP panels.
Sources: Literature; to: 11 individuals from 6 families with loss of function, bi-allelic variants in ABHD16A. 2 unrelated families (1 French-Canadian, 1 Armenian) with different homozygous variants have seizures reported. 1 patient with myoclonic seizure type reported. No direct phenotype for other patient. Immunoblot from the fibroblasts demonstrated recued ABHD16A for these families. Strong neurodevelopmental phenotype. Other paper with Homozygotes family 1 of 4 individuals presenting with febrile convulsions. ABHD16A is a phospholipase that converts PS to Lyso PS. It is present in all cell types but most abundant in neurological tissue and involved in a key process of neurophysiology. Present in callosome, intellectual disability and HSP panels.
Sources: Literature
Genetic Epilepsy v0.1947 ABHD16A John Coleman gene: ABHD16A was added
gene: ABHD16A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD16A were set to (PMID: 34587489,34489854; 32462874)
Phenotypes for gene: ABHD16A were set to seizures; myoclonic seizures; developmental delay
Penetrance for gene: ABHD16A were set to Incomplete
Review for gene: ABHD16A was set to RED
Added comment: 11 individuals from 6 families with loss of function, bi-allelic variants in ABHD16A. 2 unrelated families (1 French-Canadian, 1 Armenian) with different homozygous variants have seizures reported. 1 patient with myoclonic seizure type reported. No direct phenotype for other patient. Immunoblot from the fibroblasts demonstrated recued ABHD16A for these families. Strong neurodevelopmental phenotype. Other paper with Homozygotes family 1 of 4 individuals presenting with febrile convulsions ABHD16A is a phospholipase that converts PS to Lyso PS. It is present in all cell types but most abundant in neurological tissue and involved in a key process of neurophysiology. Present in callosome, intellectual disability and HSP panels.
Sources: Literature
Genetic Epilepsy v0.1947 TRMT10A Shekeeb Mohammad gene: TRMT10A was added
gene: TRMT10A was added to Genetic Epilepsy. Sources: Literature,Expert Review,Expert list
Mode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT10A were set to 26535115; 4995728
Phenotypes for gene: TRMT10A were set to microcephaly; diabetes; intellectual disability; epilepsy
Penetrance for gene: TRMT10A were set to unknown
Review for gene: TRMT10A was set to GREEN
gene: TRMT10A was marked as current diagnostic
Added comment: Epilepsy is reported with cortical malformations, or due to glycaemic control issues but also at varying ages without malformations or low/high blood sugar.
Sources: Literature, Expert Review, Expert list
Genetic Epilepsy v0.1947 KCNA3 Zornitza Stark Publications for gene: KCNA3 were set to
Genetic Epilepsy v0.1946 KCNA3 Zornitza Stark reviewed gene: KCNA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 37964487; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, KCNA3-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1946 PLA2G6 Zornitza Stark Marked gene: PLA2G6 as ready
Genetic Epilepsy v0.1946 PLA2G6 Zornitza Stark Gene: pla2g6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1946 PLA2G6 Zornitza Stark Classified gene: PLA2G6 as Green List (high evidence)
Genetic Epilepsy v0.1946 PLA2G6 Zornitza Stark Gene: pla2g6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1945 PLA2G6 Zornitza Stark gene: PLA2G6 was added
gene: PLA2G6 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLA2G6 were set to 30340910
Phenotypes for gene: PLA2G6 were set to Neurodegeneration with brain iron accumulation 2B MIM#610217
Review for gene: PLA2G6 was set to GREEN
Added comment: Sixteen cases of PLA2G6-associated neurodegeneration (PLAN) were examined in PMID: 30340910. Seizures were evident in 5/10 cases with infantile PLAN and in 3/6 cases with childhood PLAN. A total of nine PLA2G6 variants were associated with a phenotype that included seizures.
Sources: Expert Review
Genetic Epilepsy v0.1944 COG3 Zornitza Stark Phenotypes for gene: COG3 were changed from Neurodevelopmental disorder (MONDO#0700092), COG3-related to Congenital disorder of glycosylation, type IIbb, MIM# 620546
Genetic Epilepsy v0.1943 COG3 Zornitza Stark reviewed gene: COG3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIbb, MIM# 620546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1943 KCNH5 Zornitza Stark Phenotypes for gene: KCNH5 were changed from Neurodevelopmental disorder MONDO#0700092, KCNH5-related to Developmental and epileptic encephalopathy 112, MIM# 620537
Genetic Epilepsy v0.1942 KCNH5 Zornitza Stark Publications for gene: KCNH5 were set to https://www.medrxiv.org/content/10.1101/2022.04.26.22274147v1
Genetic Epilepsy v0.1941 KCNH5 Zornitza Stark reviewed gene: KCNH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 36307226; Phenotypes: Developmental and epileptic encephalopathy 112, MIM# 620537; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1941 U2AF2 Zornitza Stark Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) to Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535
Genetic Epilepsy v0.1940 COL18A1 Zornitza Stark Marked gene: COL18A1 as ready
Genetic Epilepsy v0.1940 COL18A1 Zornitza Stark Gene: col18a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1940 COL18A1 Zornitza Stark Phenotypes for gene: COL18A1 were changed from to Knobloch syndrome, type 1, MIM# 267750
Genetic Epilepsy v0.1939 COL18A1 Zornitza Stark Publications for gene: COL18A1 were set to
Genetic Epilepsy v0.1938 COL18A1 Zornitza Stark Mode of inheritance for gene: COL18A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1937 COG7 Zornitza Stark Marked gene: COG7 as ready
Genetic Epilepsy v0.1937 COG7 Zornitza Stark Gene: cog7 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1937 COG7 Zornitza Stark Phenotypes for gene: COG7 were changed from to Congenital disorder of glycosylation, type IIe , MIM#608779
Genetic Epilepsy v0.1936 COG7 Zornitza Stark Publications for gene: COG7 were set to
Genetic Epilepsy v0.1935 COG7 Zornitza Stark Mode of inheritance for gene: COG7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1934 CNTNAP2 Zornitza Stark Marked gene: CNTNAP2 as ready
Genetic Epilepsy v0.1934 CNTNAP2 Zornitza Stark Gene: cntnap2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1934 CNTNAP2 Zornitza Stark Phenotypes for gene: CNTNAP2 were changed from to Cortical dysplasia-focal epilepsy syndrome, MIM# 610042
Genetic Epilepsy v0.1933 CNTNAP2 Zornitza Stark Publications for gene: CNTNAP2 were set to
Genetic Epilepsy v0.1932 CNTNAP2 Zornitza Stark Mode of inheritance for gene: CNTNAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1931 COG3 Elena Savva Classified gene: COG3 as Amber List (moderate evidence)
Genetic Epilepsy v0.1931 COG3 Elena Savva Gene: cog3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1931 COG3 Elena Savva Classified gene: COG3 as Amber List (moderate evidence)
Genetic Epilepsy v0.1931 COG3 Elena Savva Gene: cog3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1931 COG3 Elena Savva Classified gene: COG3 as Amber List (moderate evidence)
Genetic Epilepsy v0.1931 COG3 Elena Savva Gene: cog3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1930 MAST4 Ain Roesley Classified gene: MAST4 as Green List (high evidence)
Genetic Epilepsy v0.1930 MAST4 Ain Roesley Gene: mast4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1930 COG3 Elena Savva Marked gene: COG3 as ready
Genetic Epilepsy v0.1930 COG3 Elena Savva Gene: cog3 has been removed from the panel.
Genetic Epilepsy v0.1930 MAST4 Ain Roesley Classified gene: MAST4 as Green List (high evidence)
Genetic Epilepsy v0.1930 MAST4 Ain Roesley Gene: mast4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1929 MAST4 Ain Roesley Marked gene: MAST4 as ready
Genetic Epilepsy v0.1929 MAST4 Ain Roesley Gene: mast4 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1929 MAST4 Ain Roesley gene: MAST4 was added
gene: MAST4 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MAST4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAST4 were set to 36910266; 33057194
Phenotypes for gene: MAST4 were set to neurodevelopmental disorder MONDO:0700092, MAST4-related
Penetrance for gene: MAST4 were set to Complete
Review for gene: MAST4 was set to GREEN
gene: MAST4 was marked as current diagnostic
Added comment: PMID: 36910266 - 4 families with 4 affecteds, all de novo missense

2x borderline microcephaly (-2SD)
2x gross motor delay
2x dysmorphism
4x ID + seizures
3x abnormal brain MRI findings

PMID: 33057194 - 5x de novos, 4x missense + 1x PTC
Cohort of individuals with severe developmental disorder
individual phenotypic information not provided


Recurrent variants are Thr1471Ile (3x) and Ser1181Phe)
Sources: Literature
Genetic Epilepsy v0.1928 ATP2B2 Zornitza Stark Marked gene: ATP2B2 as ready
Genetic Epilepsy v0.1928 ATP2B2 Zornitza Stark Gene: atp2b2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1928 ATP2B2 Zornitza Stark Classified gene: ATP2B2 as Green List (high evidence)
Genetic Epilepsy v0.1928 ATP2B2 Zornitza Stark Gene: atp2b2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1927 COG3 Daniel Flanagan gene: COG3 was added
gene: COG3 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: COG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG3 were set to PMID: 37711075
Phenotypes for gene: COG3 were set to Neurodevelopmental disorder (MONDO#0700092), COG3-related
Review for gene: COG3 was set to AMBER
Added comment: Two COG3 homozygous missense variants in four individuals from two unrelated consanguineous families. Clinical phenotypes of affected individuals include global developmental delay, severe intellectual disability, microcephaly, epilepsy, facial dysmorphism, and variable neurological findings.
Sources: Expert list
Genetic Epilepsy v0.1927 ATP2B2 Andrew Fennell gene: ATP2B2 was added
gene: ATP2B2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ATP2B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP2B2 were set to PMID: 37675773
Phenotypes for gene: ATP2B2 were set to Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related
Mode of pathogenicity for gene: ATP2B2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: ATP2B2 was set to GREEN
Added comment: 7 unrelated individuals reported with a variable phenotype including dystonia, ataxia, intellectual disability, behavioural symptoms, and seizures.

All patients have either missense variants or frameshift variants in the penultimate exon not expected to lead to NMD. This is in contrast to patients with isolated deafness previously reported to have nonsense, frameshift, or splice-site variants outside of this region.
Sources: Literature
Genetic Epilepsy v0.1927 ZBTB47 Elena Savva Classified gene: ZBTB47 as Green List (high evidence)
Genetic Epilepsy v0.1927 ZBTB47 Elena Savva Gene: zbtb47 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1926 ZBTB47 Elena Savva Classified gene: ZBTB47 as Green List (high evidence)
Genetic Epilepsy v0.1926 ZBTB47 Elena Savva Gene: zbtb47 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1925 ZBTB47 Elena Savva Marked gene: ZBTB47 as ready
Genetic Epilepsy v0.1925 ZBTB47 Elena Savva Gene: zbtb47 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1925 ZBTB47 Elena Savva gene: ZBTB47 was added
gene: ZBTB47 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ZBTB47 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZBTB47 were set to 37743782
Phenotypes for gene: ZBTB47 were set to Neurodevelopmental disorder (MONDO#0700092), ZBTB47-related
Review for gene: ZBTB47 was set to GREEN
Added comment: PMID 37743782:
- 5 patients with de novo missense, 4/5 have a recurring p.Gly477Lys. Probands have intellectual disability (5/5), seizures (5/5), hypotonia (5/5), gait abnormalities, and variable movement abnormalities (5/5).
- Missense variants are positioned close to His and Cys residues involved in forming C2H2 zinc fingers.
- No functional studies performed
- Minimal PTCs in gnomAD
Sources: Literature
Genetic Epilepsy v0.1924 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Intellectual disability-hypotonic facies syndrome, X-linked, MIM# 309580 to ATR-X-related syndrome MONDO:0016980
Genetic Epilepsy v0.1923 ATRX Zornitza Stark edited their review of gene: ATRX: Changed phenotypes: ATR-X-related syndrome MONDO:0016980
Genetic Epilepsy v0.1923 CSNK1E Zornitza Stark Phenotypes for gene: CSNK1E were changed from Epileptic encephalopathy to Developmental and epileptic encephalopathy, MONDO:0100062, CSNK1E-related
Genetic Epilepsy v0.1922 CSNK1E Zornitza Stark edited their review of gene: CSNK1E: Changed phenotypes: Developmental and epileptic encephalopathy, MONDO:0100062, CSNK1E-related
Genetic Epilepsy v0.1922 CNTN2 Zornitza Stark Publications for gene: CNTN2 were set to 23518707
Genetic Epilepsy v0.1921 CNTN2 Zornitza Stark Phenotypes for gene: CNTN2 were changed from Epilepsy to Epilepsy, MONDO:0015653, CNTN2-related
Genetic Epilepsy v0.1920 DEPDC5 Zornitza Stark Phenotypes for gene: DEPDC5 were changed from Epilepsy, familial focal, with variable foci 1 MIM#604364; Neurodevelopmental disorder, DEPDC5-related, MONDO:0700092 to Epilepsy, familial focal, with variable foci 1 MIM#604364; Developmental and epileptic encephalopathy 111, MIM# 620504
Genetic Epilepsy v0.1919 ALG10 Zornitza Stark Phenotypes for gene: ALG10 were changed from Progressive myoclonus epilepsy; CDG to Congenital disorder of glycosylation, MONDO:0015286, ALG10-related
Genetic Epilepsy v0.1918 ALG10 Zornitza Stark edited their review of gene: ALG10: Changed phenotypes: Congenital disorder of glycosylation, MONDO:0015286, ALG10-related
Genetic Epilepsy v0.1918 AGMO Zornitza Stark Phenotypes for gene: AGMO were changed from microcephaly; intellectual disability; epilepsy to Neurodevelopmental disorder, MONDO:0700092, AGMO-related
Genetic Epilepsy v0.1917 SCAF4 Zornitza Stark Phenotypes for gene: SCAF4 were changed from Mild intellectual disability; seizures; behavioral abnormalities to Fliedner-Zweier syndrome, MIM#620511
Genetic Epilepsy v0.1916 SCAF4 Zornitza Stark reviewed gene: SCAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fliedner-Zweier syndrome, MIM#620511; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1916 GABBR1 Zornitza Stark Phenotypes for gene: GABBR1 were changed from Neurodevelopmental disorder, GABBR1-related, MONDO:0700092 to Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502
Genetic Epilepsy v0.1915 PIP5K1C Zornitza Stark Marked gene: PIP5K1C as ready
Genetic Epilepsy v0.1915 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1915 PIP5K1C Zornitza Stark Classified gene: PIP5K1C as Green List (high evidence)
Genetic Epilepsy v0.1915 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1914 PIP5K1C Zornitza Stark gene: PIP5K1C was added
gene: PIP5K1C was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: PIP5K1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIP5K1C were set to 37451268
Phenotypes for gene: PIP5K1C were set to Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related
Review for gene: PIP5K1C was set to GREEN
Added comment: Three de novo heterozygous missense variants in PIP5K1C (p.Glu146Lys, p.Tyr205Cys & p.Tyr221Cys) were identified in nine unrelated children exhibiting intellectual disability, developmental delay, acquired microcephaly, seizures, visual abnormalities, and dysmorphic features. Intellectual disability was reported in all nine children and seizures were present in seven children, of which three had developmental and epileptic encephalopathy. In addition, there is functional evidence available, which includes an in vivo zebrafish model that recapitulates the human phenotype (developmental defects affecting the forebrain, including the eyes, as well as craniofacial abnormalities) (PMID:37451268).
Sources: Expert Review
Genetic Epilepsy v0.1913 COL4A3BP Zornitza Stark Marked gene: COL4A3BP as ready
Genetic Epilepsy v0.1913 COL4A3BP Zornitza Stark Gene: col4a3bp has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1913 COL4A3BP Zornitza Stark Classified gene: COL4A3BP as Green List (high evidence)
Genetic Epilepsy v0.1913 COL4A3BP Zornitza Stark Gene: col4a3bp has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1912 RAB5C Rylee Peters changed review comment from: 12 individuals with nine different heterozygous de novo variants in RAB5C.
9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).
All has mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD).
Sources: Literature; to: 12 individuals with nine different heterozygous de novo variants in RAB5C.
9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).
All have mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD).
Sources: Literature
Genetic Epilepsy v0.1912 RAB5C Ain Roesley Marked gene: RAB5C as ready
Genetic Epilepsy v0.1912 RAB5C Ain Roesley Gene: rab5c has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1912 RAB5C Ain Roesley Classified gene: RAB5C as Green List (high evidence)
Genetic Epilepsy v0.1912 RAB5C Ain Roesley Gene: rab5c has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1911 COL4A3BP Ee Ming Wong gene: COL4A3BP was added
gene: COL4A3BP was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: COL4A3BP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL4A3BP were set to PMID: 36976648
Phenotypes for gene: COL4A3BP were set to Intellectual developmental disorder 34 (MIM#616351)
Mode of pathogenicity for gene: COL4A3BP was set to Other
Review for gene: COL4A3BP was set to GREEN
gene: COL4A3BP was marked as current diagnostic
Added comment: - current HGNC symbol: CERT1
- Thirty-one unrelated individuals with twenty-two distinct missense variants. The majority of variants were de novo
- Several variants transfected into HeLa cells demonstrated gain of CERT activity
- CERT gain of function in Drosophila melanogaster led to head and brain size defects and impaired locomotor activity, which was corrected by pharmacological inhibition of CERT
Sources: Literature
Genetic Epilepsy v0.1911 RAB5C Rylee Peters gene: RAB5C was added
gene: RAB5C was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: RAB5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB5C were set to PMID: 37552066
Phenotypes for gene: RAB5C were set to Neurodevelopmental disorder MONDO:0700092, RAB5C-related
Penetrance for gene: RAB5C were set to Complete
Review for gene: RAB5C was set to GREEN
gene: RAB5C was marked as current diagnostic
Added comment: 12 individuals with nine different heterozygous de novo variants in RAB5C.
9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).
All has mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD).
Sources: Literature
Genetic Epilepsy v0.1911 PPP1R3F Zornitza Stark Marked gene: PPP1R3F as ready
Genetic Epilepsy v0.1911 PPP1R3F Zornitza Stark Gene: ppp1r3f has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1911 PPP1R3F Zornitza Stark Classified gene: PPP1R3F as Green List (high evidence)
Genetic Epilepsy v0.1911 PPP1R3F Zornitza Stark Gene: ppp1r3f has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1910 PPP1R3F Andrew Fennell gene: PPP1R3F was added
gene: PPP1R3F was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PPP1R3F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PPP1R3F were set to 37531237
Phenotypes for gene: PPP1R3F were set to Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related
Review for gene: PPP1R3F was set to GREEN
Added comment: 13 unrelated hemizygous individuals with a neurodevelopmental disorder were reported, with functional evidence.
6/13 (46%) were reported with heterogeneous seizure types including generalized, nocturnal, tonic, atonic, focal, myoclonic, and atypical absence.
Sources: Literature
Genetic Epilepsy v0.1910 ATP5O Zornitza Stark Marked gene: ATP5O as ready
Genetic Epilepsy v0.1910 ATP5O Zornitza Stark Gene: atp5o has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1910 ATP5O Zornitza Stark Classified gene: ATP5O as Green List (high evidence)
Genetic Epilepsy v0.1910 ATP5O Zornitza Stark Gene: atp5o has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1909 ATP5O Zornitza Stark gene: ATP5O was added
gene: ATP5O was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: ATP5O was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP5O were set to 35621276; 34954817
Phenotypes for gene: ATP5O were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359
Review for gene: ATP5O was set to GREEN
Added comment: Three unrelated families reported. Presenting features included DD, hypotonia, seizures.
Sources: Expert list
Genetic Epilepsy v0.1908 PABPC1 Zornitza Stark Marked gene: PABPC1 as ready
Genetic Epilepsy v0.1908 PABPC1 Zornitza Stark Gene: pabpc1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1908 PABPC1 Zornitza Stark Classified gene: PABPC1 as Green List (high evidence)
Genetic Epilepsy v0.1908 PABPC1 Zornitza Stark Gene: pabpc1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1907 PABPC1 Zornitza Stark gene: PABPC1 was added
gene: PABPC1 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: PABPC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PABPC1 were set to 35511136
Phenotypes for gene: PABPC1 were set to Neurodevelopmental disorder, PABPC1-related (MONDO#0700092)
Review for gene: PABPC1 was set to GREEN
Added comment: PMID: 35511136 - 4 probands with an overlapping phenotype of DD, expressive speech delay, and autistic features and heterozygous de novo variants that cluster in the PABP domain of PABPC1. Intellectual disability ranged in the cases from profound (1/4), IQ: 61 (1/4) and IQ: 79 (2/4). Seizures were apparent in the all of the three cases where it was assessed.

Electroporation of mouse embryo brains showed that Pabpc1 knockdown decreases the proliferation of neural progenitor cells. Wild-type Pabpc1 could rescue this disturbance, whereas 3 of the 4 variants did not.
Sources: Expert Review
Genetic Epilepsy v0.1906 CRELD1 Zornitza Stark Marked gene: CRELD1 as ready
Genetic Epilepsy v0.1906 CRELD1 Zornitza Stark Gene: creld1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1906 CRELD1 Zornitza Stark Classified gene: CRELD1 as Green List (high evidence)
Genetic Epilepsy v0.1906 CRELD1 Zornitza Stark Gene: creld1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1905 CRELD1 Zornitza Stark gene: CRELD1 was added
gene: CRELD1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: CRELD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRELD1 were set to Developmental and epileptic encephalopathy, MONDO:0100062, CRELD1-related
Review for gene: CRELD1 was set to GREEN
Added comment: Emerging evidence of association between bi-allelic variants and DEE (>10 families).
Sources: Expert list
Genetic Epilepsy v0.1904 UBAP2L Zornitza Stark Phenotypes for gene: UBAP2L were changed from Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494; Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system to Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494; Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system
Genetic Epilepsy v0.1904 UBAP2L Zornitza Stark Phenotypes for gene: UBAP2L were changed from Neurodevelopmental disorder, MONDO:0700092, UBAP2L-related; Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system to Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494; Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system
Genetic Epilepsy v0.1903 UBAP2L Zornitza Stark edited their review of gene: UBAP2L: Changed phenotypes: Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494
Genetic Epilepsy v0.1903 ATP13A2 Zornitza Stark Marked gene: ATP13A2 as ready
Genetic Epilepsy v0.1903 ATP13A2 Zornitza Stark Gene: atp13a2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1903 ATP13A2 Zornitza Stark Classified gene: ATP13A2 as Green List (high evidence)
Genetic Epilepsy v0.1903 ATP13A2 Zornitza Stark Gene: atp13a2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1902 ATP13A2 Zornitza Stark gene: ATP13A2 was added
gene: ATP13A2 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP13A2 were set to 30868101; 21362476; 31588715; 22388936
Phenotypes for gene: ATP13A2 were set to Kufor-Rakeb syndrome MIM#606693
Review for gene: ATP13A2 was set to GREEN
Added comment: Progressive neurological disorder, seizures in some patients.
Sources: Expert Review
Genetic Epilepsy v0.1901 ZNF335 Zornitza Stark Marked gene: ZNF335 as ready
Genetic Epilepsy v0.1901 ZNF335 Zornitza Stark Gene: znf335 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1901 ZNF335 Zornitza Stark Classified gene: ZNF335 as Green List (high evidence)
Genetic Epilepsy v0.1901 ZNF335 Zornitza Stark Gene: znf335 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1900 ZNF335 Zornitza Stark gene: ZNF335 was added
gene: ZNF335 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: ZNF335 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF335 were set to 23178126; 27540107; 29652087
Phenotypes for gene: ZNF335 were set to Microcephaly 10, primary, autosomal recessive (MIM#615095)
Review for gene: ZNF335 was set to GREEN
Added comment: At least 6 unrelated families reported in literature with different biallelic variants in ZNF335. Microcephaly is the primary feature, but also commonly in association with a variable epilepsy phenotype.

Stouffs et al. (PMID:29652087) report 2 unrelated cases: patient A, demonstrating refractory seizures leading to death at age 5 days, whereas patient B lacked any clinical seizures, but had frequent spasms that have yet to be recorded by EEG. The proband in Sato et al. (PMID:27540107) had rare focal seizures controlled by treatment. Although not noted by Yang et al. (PMID:231781260), affected individuals in that family had seizures described as paroxysmal myoclonic jerks (personal communication with Stouffs et al). The case by Rana et al. (PMID:31187448) presented multifocal drug-resistant epilepsy, and while details were limited in McSherry et al. (PMID:30500859), authors did also note seizures.
Sources: Expert Review
Genetic Epilepsy v0.1899 USP18 Zornitza Stark Marked gene: USP18 as ready
Genetic Epilepsy v0.1899 USP18 Zornitza Stark Gene: usp18 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1899 USP18 Zornitza Stark Classified gene: USP18 as Green List (high evidence)
Genetic Epilepsy v0.1899 USP18 Zornitza Stark Gene: usp18 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1898 USP18 Zornitza Stark gene: USP18 was added
gene: USP18 was added to Genetic Epilepsy. Sources: Expert Review
treatable tags were added to gene: USP18.
Mode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP18 were set to 12833411; 27325888; 31940699
Phenotypes for gene: USP18 were set to Pseudo-TORCH syndrome 2, MIM#617397
Review for gene: USP18 was set to GREEN
Added comment: - PMID: 27325888 (2016) - Three sibs from a consanguineous Turkish family with a homozygous variant (c.652C>T, p.Q218X) in USP18. Antenatal presentation in one sib led to termination of pregnancy at 22 wk of gestation, and in the remaining two children presentation was neonatal and resulted in death within 2 weeks of life. In the latter two individuals manifestations included severe intracerebral haemorrhages, liver dysfunction, ascites, and lactic acidosis. One sib additionally had severe thrombocytopenia with petechiae, while the other developed seizures.

Two German sibs, previously reported in PMID: 12833411 (2013), were found to be compound het for the same p.Q218X variant and a cryptic 3-prime deletion of the USP18 gene. They presented thrombocytopenia, petechiae, ascites, hepatomegaly, and systemic calcifications. Within the first days of life, they developed seizures and died from severe cerebral haemorrhage.

Haplotype analysis of the region containing the Q218X mutation suggested a common ancestor between the 2 families and a founder effect.

- PMID: 31940699 (2020) - One Saudi Arabian boy with a homozygous splice-site variant (c.1073+1G>A) in USP18, presented hydrocephalus with seizures, intraventricular haemorrhage, brain calcifications, necrotizing cellulitis, systemic inflammation, multiple organ failure, and respiratory failure. This was the only patient to survive beyond the perinatal period owing to supportive care and prompt treatment with ruxolitinib. At the time of publication, the child was 3-years-old and was in full remission of clinical manifestations while continuing to receive oral ruxolitinib. He continues to grow normally, however authors note delay in developmental milestones.
Sources: Expert Review
Genetic Epilepsy v0.1897 TUBGCP2 Zornitza Stark Marked gene: TUBGCP2 as ready
Genetic Epilepsy v0.1897 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1897 TUBGCP2 Zornitza Stark Classified gene: TUBGCP2 as Green List (high evidence)
Genetic Epilepsy v0.1897 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1896 TUBGCP2 Zornitza Stark gene: TUBGCP2 was added
gene: TUBGCP2 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP2 were set to 31630790
Phenotypes for gene: TUBGCP2 were set to Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM # 618737
Review for gene: TUBGCP2 was set to GREEN
Added comment: PMID: 31630790 (2019) - Five patients from four families with biallelic variants in the TUBGCP2 gene. Affected individuals shared phenotypic features that included progressive microcephaly (4/4), developmental delay (5/5, mild-severe), generalised seizures (4/5, onset at 6yrs-9m, 5m, and 7m). All patients exhibited lissencephaly-spectrum phenotypes with varying degrees of cortical malformations on brain imaging including pachygyria and subcortical band heterotopia.

All variants segregated with disease in each family. Analysis of fibroblasts derived from one patient with a splice site variant revealed several abnormal transcripts, predicted to result in LoF. No further functional studies of other variants or patient cells were performed.
Sources: Expert Review
Genetic Epilepsy v0.1895 RNF113A Zornitza Stark Marked gene: RNF113A as ready
Genetic Epilepsy v0.1895 RNF113A Zornitza Stark Gene: rnf113a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1895 RNF113A Zornitza Stark Classified gene: RNF113A as Green List (high evidence)
Genetic Epilepsy v0.1895 RNF113A Zornitza Stark Gene: rnf113a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1894 RNF113A Zornitza Stark gene: RNF113A was added
gene: RNF113A was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: RNF113A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: RNF113A were set to 25612912; 31880405; 31793730; 29133357; 30506991; 15256591; 24026126; 23555887
Phenotypes for gene: RNF113A were set to Trichothiodystrophy 5, nonphotosensitive, MIM#300953
Review for gene: RNF113A was set to GREEN
Added comment: Seizures reported in a proportion of affected individuals.
Sources: Expert Review
Genetic Epilepsy v0.1893 RARS Zornitza Stark Marked gene: RARS as ready
Genetic Epilepsy v0.1893 RARS Zornitza Stark Gene: rars has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1893 RARS Zornitza Stark Classified gene: RARS as Green List (high evidence)
Genetic Epilepsy v0.1893 RARS Zornitza Stark Gene: rars has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1892 RARS Zornitza Stark gene: RARS was added
gene: RARS was added to Genetic Epilepsy. Sources: Expert Review
new gene name tags were added to gene: RARS.
Mode of inheritance for gene: RARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RARS were set to 31814314
Phenotypes for gene: RARS were set to Leukodystrophy, hypomyelinating, 9 (# 616140)
Review for gene: RARS was set to GREEN
Added comment: PMID 31814314: Clinical presentation and severity can be highly variable. However, among the 15 patients of relevant age (5/20 deceased at an early age), ID was observed in 13 (in 6/13 mild-moderate, in 7/13 severe/profound). Epilepsy was reported in half (10/20) with seizures being refractory to treatment in most and the phenotype corresponding to an infantile epileptic encephalopathy. DD and seizures were the presenting feature in 7 and 5 patients respectively, while in other cases presenting features were less specific (eg. failure to thrive in 1/20, irritabilty in 2/20).
Sources: Expert Review
Genetic Epilepsy v0.1891 PGM2L1 Zornitza Stark Marked gene: PGM2L1 as ready
Genetic Epilepsy v0.1891 PGM2L1 Zornitza Stark Gene: pgm2l1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1891 PGM2L1 Zornitza Stark Classified gene: PGM2L1 as Green List (high evidence)
Genetic Epilepsy v0.1891 PGM2L1 Zornitza Stark Gene: pgm2l1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1890 PGM2L1 Zornitza Stark gene: PGM2L1 was added
gene: PGM2L1 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: PGM2L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGM2L1 were set to 33979636
Phenotypes for gene: PGM2L1 were set to Neurodevelopmental disorder, MONDO:0700092, PGM2L1-related
Review for gene: PGM2L1 was set to GREEN
Added comment: PMID: 33979636:
- Bi-allelic PTVs in 4 unrelated individuals. All four affected individuals had severe developmental and speech delay, dysmorphic facial features, ear anomalies, high arched palate, strabismus, hypotonia, and keratosis pilaris. Early obesity and seizures were present in three individuals.
- Studies on patient fibroblasts and cell lines indicated that PGM2L1 deficiency causes a decrease, but not a disappearance, of the sugar bisphosphates needed for the formation of NDP-sugars and that there is no evidence that this leads to a glycosylation defect.
Sources: Expert Review
Genetic Epilepsy v0.1889 MINPP1 Zornitza Stark Marked gene: MINPP1 as ready
Genetic Epilepsy v0.1889 MINPP1 Zornitza Stark Gene: minpp1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1889 MINPP1 Zornitza Stark Classified gene: MINPP1 as Green List (high evidence)
Genetic Epilepsy v0.1889 MINPP1 Zornitza Stark Gene: minpp1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1888 MINPP1 Zornitza Stark gene: MINPP1 was added
gene: MINPP1 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: MINPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MINPP1 were set to 33257696
Phenotypes for gene: MINPP1 were set to Pontocerebellar hypoplasia, type 16, MIM# 619527
Review for gene: MINPP1 was set to GREEN
Added comment: 8 individuals from 6 unrelated families reported with bi-allelic LOF variants. All presented with almost complete absence of motor and cognitive development, progressive or congenital microcephaly, spastic tetraplegia or dystonia, and vision impairments. For most, the first symptoms included neonatal severe axial hypotonia and epilepsy that started during the first months or years of life. Prenatal symptoms of microcephaly associated with increased thalami echogenicity were detected in one, while the seven other individuals presented with progressive microcephaly. Some exhibited rapidly progressive phenotype and the affected children died in their infancy or middle-childhood. Strikingly, all the affected children had a unique brain MRI showing a mild to severe PCH, fluid-filled posterior fossa, with dilated lateral ventricles. In addition, severe atrophy at the level of the basal ganglia or thalami often associated with typical T2 hypersignal were identified in all the patients MRI.

Supportive functional data showing accumulation of highly phosphorylated inositols, mostly inositol hexakisphosphate (IP6), detected in HEK293 cells, fibroblasts, iPSCs and differentiating neurons lacking MINPP1. In mutant cells, higher IP6 level is expected to be associated with an increased chelation of intracellular cations, such as iron or calcium, resulting in decreased levels of available ions.
Sources: Expert Review
Genetic Epilepsy v0.1887 GLRA2 Zornitza Stark Marked gene: GLRA2 as ready
Genetic Epilepsy v0.1887 GLRA2 Zornitza Stark Gene: glra2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1887 GLRA2 Zornitza Stark Classified gene: GLRA2 as Green List (high evidence)
Genetic Epilepsy v0.1887 GLRA2 Zornitza Stark Gene: glra2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1886 GLRA2 Zornitza Stark gene: GLRA2 was added
gene: GLRA2 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: GLRA2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GLRA2 were set to 35294868
Phenotypes for gene: GLRA2 were set to Intellectual developmental disorder, X-linked, syndromic, Pilorge type, MIM# 301076
Review for gene: GLRA2 was set to GREEN
Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. PMID: 35294868 reports eight GLRA2 variants in affected females (n=8) and males (n=5). The variants in the females were de novo and c.887C>T,
p.Thr296Met (NC_000023.10, chrX: g.14627284C>T) was present in six individuals (PMID: 35294868, table 2) and was found to have a gain-of-function effect, which is in contrast to c.754C>T, p.Arg252Cys and c.407A>G, p.Asn136Ser (PMID: 2637014). All of the 13 GLRA2 variant carriers in PMID: 35294868 had developmental delay/intellectual disability and epilepsy was evident in 7/13 of the cases (PMID: 35294868, table 2). Supportive functional studies were also presented.
Sources: Expert Review
Genetic Epilepsy v0.1885 DTYMK Zornitza Stark Marked gene: DTYMK as ready
Genetic Epilepsy v0.1885 DTYMK Zornitza Stark Gene: dtymk has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1885 DTYMK Zornitza Stark Classified gene: DTYMK as Amber List (moderate evidence)
Genetic Epilepsy v0.1885 DTYMK Zornitza Stark Gene: dtymk has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1884 DTYMK Zornitza Stark gene: DTYMK was added
gene: DTYMK was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: DTYMK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DTYMK were set to Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847)
Review for gene: DTYMK was set to AMBER
Added comment: Four individuals from three families reported. Two individuals had seizures (febrile seizures in one and myoclonic jerks in the other).
Sources: Expert Review
Genetic Epilepsy v0.1883 DDC Zornitza Stark Marked gene: DDC as ready
Genetic Epilepsy v0.1883 DDC Zornitza Stark Gene: ddc has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1883 DDC Zornitza Stark Classified gene: DDC as Green List (high evidence)
Genetic Epilepsy v0.1883 DDC Zornitza Stark Gene: ddc has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1882 DDC Zornitza Stark gene: DDC was added
gene: DDC was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency, MIM# 608643
Review for gene: DDC was set to GREEN
Added comment: Seizures are rare but oculogyric crises, a key feature of this disorder, can be mistaken for seizures. Included for completeness.
Sources: Expert list
Genetic Epilepsy v0.1881 ATP6V0C Zornitza Stark Phenotypes for gene: ATP6V0C were changed from Epilepsy; Intellectual Disability; microcephaly to Epilepsy, early-onset, with or without developmental delay, MIM#620465; Epilepsy; Intellectual Disability; microcephaly
Genetic Epilepsy v0.1880 ATP6V0C Zornitza Stark edited their review of gene: ATP6V0C: Changed phenotypes: Epilepsy, early-onset, with or without developmental delay, MIM#620465, Intellectual disability, seizures
Genetic Epilepsy v0.1880 RNH1 Zornitza Stark Phenotypes for gene: RNH1 were changed from Neurodevelopmental disorder, MONDO:0700092, RNH1-related; encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related to Neurodevelopmental disorder, MONDO:0700092, RNH1-related; {Encephalopathy, acute, infection-induced, susceptibiliyt to, 12}, MIM# 620461
Genetic Epilepsy v0.1879 AQP4 Zornitza Stark Marked gene: AQP4 as ready
Genetic Epilepsy v0.1879 AQP4 Zornitza Stark Gene: aqp4 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1879 AQP4 Zornitza Stark Phenotypes for gene: AQP4 were changed from ?Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448 to Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448
Genetic Epilepsy v0.1878 AQP4 Zornitza Stark Classified gene: AQP4 as Amber List (moderate evidence)
Genetic Epilepsy v0.1878 AQP4 Zornitza Stark Gene: aqp4 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1877 AQP4 Zornitza Stark reviewed gene: AQP4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1877 GPRC5B Ain Roesley Classified gene: GPRC5B as Green List (high evidence)
Genetic Epilepsy v0.1877 GPRC5B Ain Roesley Gene: gprc5b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1877 GPRC5B Ain Roesley Marked gene: GPRC5B as ready
Genetic Epilepsy v0.1877 GPRC5B Ain Roesley Gene: gprc5b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1877 GPRC5B Ain Roesley Classified gene: GPRC5B as Green List (high evidence)
Genetic Epilepsy v0.1877 GPRC5B Ain Roesley Gene: gprc5b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1876 AQP4 Lucy Spencer gene: AQP4 was added
gene: AQP4 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: AQP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AQP4 were set to PMID: 37143309
Phenotypes for gene: AQP4 were set to ?Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448
Review for gene: AQP4 was set to AMBER
Added comment: PMID: 37143309
Cohort of 5 patients with an MRI based diagnosis of megalencephalic leukoencephalopathy with subcortical cysts (MLC). Missense variant in AQP4 seen homozygous in 2 siblings and het in the parents. Patients had macrocephaly, developmental delay, hypotonia, epilepsy, and cognitive deficit.

Western blots on generated MDCK cell lines showed no detectable expression of AQP4 protein from the cells with the patients variant. Immunofluorescence also showed no membrane expression. Overexpression studies in HEK293T cells showed WT was seen as mainly monomers or dimers where as variant protein formed large aggregates- likely due to the saturation of protein degradation pathways because of the overexpression.
Sources: Literature
Genetic Epilepsy v0.1876 GPRC5B Lucy Spencer gene: GPRC5B was added
gene: GPRC5B was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GPRC5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GPRC5B were set to 37143309
Phenotypes for gene: GPRC5B were set to Megalencephalic leukoencephalopathy with subcortical cysts 3 MIM#620447
Review for gene: GPRC5B was set to GREEN
Added comment: PMID: 37143309
Cohort of 5 patients with an MRI based diagnosis of megalencephalic leukoencephalopathy with subcortical cysts (MLC). 3 unrelated patients had variants in GPRC5B, 2 have the same inframe dup Ile175dup and the third has an in frame dup of Ala177. All 3 were de novo and unaffected siblings did not have the variants. All patients have macrocephaly, delayed motor development, seizures, all had varying degrees of cognitive deficits. 2 also had spasticity, ataxia and dystonia. MRI showed MLC, abnormal and swollen cerebral white matter.

Patient cell lines showed reduced regulatory volume decrease, and western blot showed a strong increase in GRPC5B levels in patient lymphoblasts. Together, these findings indicate disturbed volume regulation in lymphoblasts from patients with GPRC5B variants, potentially due to increased GPRC5B levels. Transfected cells caused increased volume-regulated anion channel activity.
Sources: Literature
Genetic Epilepsy v0.1876 EIF4A2 Zornitza Stark Phenotypes for gene: EIF4A2 were changed from Neurodevelopmental disorder (MONDO:0700092), EIF4A2-related to Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, MIM# 620455
Genetic Epilepsy v0.1875 TMEM63B Zornitza Stark Marked gene: TMEM63B as ready
Genetic Epilepsy v0.1875 TMEM63B Zornitza Stark Gene: tmem63b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1875 TMEM63B Zornitza Stark Classified gene: TMEM63B as Green List (high evidence)
Genetic Epilepsy v0.1875 TMEM63B Zornitza Stark Gene: tmem63b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1874 TMEM63B Zornitza Stark gene: TMEM63B was added
gene: TMEM63B was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TMEM63B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM63B were set to 37421948
Phenotypes for gene: TMEM63B were set to developmental and epileptic encephalopathy, MONDO:0100062, TMEM63B-related
Review for gene: TMEM63B was set to GREEN
Added comment: 17 unrelated individuals with severe early-onset developmental and epileptic encephalopathy (DEE), intellectual disability, and severe motor and cortical visual impairment were identified with ten distinct heterozygous variants inTMEM63B. The variants occurred de novo in 16/17 individuals for whom parental DNA was available and either missense or in-frame. All individuals had global developmental delay, with moderate-to-profound intellectual disability and severe motor impairment. All individuals had early-onset drug-resistant epilepsy, whose onset ranged from birth to 3 years but occurred within the first year in 14/17 (82%) and in the first month of life in 6/17 (35%).
Sources: Literature
Genetic Epilepsy v0.1873 TEFM Zornitza Stark Marked gene: TEFM as ready
Genetic Epilepsy v0.1873 TEFM Zornitza Stark Gene: tefm has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1873 TEFM Zornitza Stark Classified gene: TEFM as Green List (high evidence)
Genetic Epilepsy v0.1873 TEFM Zornitza Stark Gene: tefm has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1872 TEFM Zornitza Stark gene: TEFM was added
gene: TEFM was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TEFM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TEFM were set to 36823193
Phenotypes for gene: TEFM were set to Combined oxidative phosphorylation deficiency 58, MIM# 620451
Review for gene: TEFM was set to GREEN
Added comment: Seven individuals from 5 families reported. Presentation predominantly with encephalopathy, seizures and ID, in addition to lactic acidosis.
Sources: Literature
Genetic Epilepsy v0.1871 KCNA3 Zornitza Stark Marked gene: KCNA3 as ready
Genetic Epilepsy v0.1871 KCNA3 Zornitza Stark Gene: kcna3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1871 KCNA3 Zornitza Stark Phenotypes for gene: KCNA3 were changed from Neurodevelopmental disorder with epilepsy to Neurodevelopmental disorder, MONDO:0700092, KCNA3-related
Genetic Epilepsy v0.1870 SART3 Zornitza Stark Classified gene: SART3 as Green List (high evidence)
Genetic Epilepsy v0.1870 SART3 Zornitza Stark Gene: sart3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1869 KCNA3 Chirag Patel Classified gene: KCNA3 as Green List (high evidence)
Genetic Epilepsy v0.1869 KCNA3 Chirag Patel Gene: kcna3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1869 KCNA3 Chirag Patel Classified gene: KCNA3 as Green List (high evidence)
Genetic Epilepsy v0.1869 KCNA3 Chirag Patel Gene: kcna3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1869 KCNA3 Chirag Patel Classified gene: KCNA3 as Green List (high evidence)
Genetic Epilepsy v0.1869 KCNA3 Chirag Patel Gene: kcna3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1868 KCNA3 Chirag Patel gene: KCNA3 was added
gene: KCNA3 was added to Genetic Epilepsy. Sources: Other
Mode of inheritance for gene: KCNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNA3 were set to Neurodevelopmental disorder with epilepsy
Review for gene: KCNA3 was set to GREEN
gene: KCNA3 was marked as current diagnostic
Added comment: ESHG 2023:
10 individuals with de novo missense variants in KCNA3 (K+ channel)
Variable electrophysiology studies of effect of variants (5 x LOF, 4 x GOF, 1 no change)
Presentation: abnormal speech development (8/8), ID (6/8), epilepsy (5/8), and ASD (7/8)
Sources: Other
Genetic Epilepsy v0.1867 SART3 Krithika Murali Marked gene: SART3 as ready
Genetic Epilepsy v0.1867 SART3 Krithika Murali Added comment: Comment when marking as ready: PMID: 37296101 - 3 individuals from 3 unrelated families reported with seizures.
Genetic Epilepsy v0.1867 SART3 Krithika Murali Gene: sart3 has been removed from the panel.
Genetic Epilepsy v0.1867 SART3 Daniel Flanagan gene: SART3 was added
gene: SART3 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SART3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SART3 were set to PMID: 37296101
Phenotypes for gene: SART3 were set to Neurodevelopmental disorder (MONDO#0700092), SART3-related; 46,XY disorder of sex development (MONDO:0020040), SART3-related
Review for gene: SART3 was set to GREEN
Added comment: Nine individuals from six families presenting with intellectual disability, global developmental delay, a subset of brain anomalies, together with gonadal dysgenesis in 46,XY individuals. Additionally, two individuals had seizures and two had epileptiform activity reported on EEG.

Human induced pluripotent stem cells carrying patient variants in SART3 show disruption to multiple signalling pathways, upregulation of spliceosome components and demonstrate aberrant gonadal and neuronal differentiation in vitro.
Sources: Expert list
Genetic Epilepsy v0.1867 RPH3A Elena Savva Classified gene: RPH3A as Green List (high evidence)
Genetic Epilepsy v0.1867 RPH3A Elena Savva Gene: rph3a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1866 RPH3A Elena Savva Classified gene: RPH3A as Green List (high evidence)
Genetic Epilepsy v0.1866 RPH3A Elena Savva Gene: rph3a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1866 RPH3A Elena Savva Classified gene: RPH3A as Green List (high evidence)
Genetic Epilepsy v0.1866 RPH3A Elena Savva Gene: rph3a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1865 RPH3A Elena Savva Marked gene: RPH3A as ready
Genetic Epilepsy v0.1865 RPH3A Elena Savva Gene: rph3a has been removed from the panel.
Genetic Epilepsy v0.1865 RPH3A Lucy Spencer gene: RPH3A was added
gene: RPH3A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: RPH3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPH3A were set to 37403762; 29441694
Phenotypes for gene: RPH3A were set to Neurodevelopmental disorder (MONDO#0700092), RPH3A-related
Review for gene: RPH3A was set to GREEN
Added comment: PMID: 37403762- 6 patients with RPH3A variant. All 6 have ID, 4 have epilepsy, 2 with obesity, 1 with dysmorphic features. All 6 have missense variants, 3 shown to be de novo, the other 3 parents were not available for testing. I patient also had language and motor impairment, breathing issues and mixed hypo/hypertonia- he also had variants in CUL4B, PRKAG2, SCN4A, none of these genes cause seizures (which he had).

Patch clamp studies on 2 of the missense showed they increased either the number of NMDA receptors on neuron membrane surface or increased their conductance. Study suggests that the variants interrupt the normal role of RPH3A activity at the synaptic NMDAR complex which is needed for the induction of synaptic plasticity and NMDAR-dependant behaviours

Also previously 1 biallelic patient was reported, PMID: 29441694- 1 girl with learning disabilities, tremors, ataxia, hyperglycemia and muscle fatigability. Chet for 2 RPH3A missense. Functional analysis showed strong and marginal impairment of protein binding for each variant.
Sources: Literature
Genetic Epilepsy v0.1865 GCSH Zornitza Stark Phenotypes for gene: GCSH were changed from Glycine encephalopathy MIM#605899; neurodevelopmental disorder MONDO#0700092, GCHS-related to Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423
Genetic Epilepsy v0.1864 STXBP1 Michelle Torres reviewed gene: STXBP1: Rating: AMBER; Mode of pathogenicity: Other; Publications: 31855252; Phenotypes: Developmental and epileptic encephalopathy 4, MIM# 612164; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1864 RHOBTB2 Zornitza Stark Publications for gene: RHOBTB2 were set to 29768694; 29276004
Genetic Epilepsy v0.1863 RHOBTB2 Zornitza Stark Mode of inheritance for gene: RHOBTB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1862 RHOBTB2 Zornitza Stark edited their review of gene: RHOBTB2: Added comment: PMID 37165955: 16 individuals with de novo heterozygous missense variants in the BTB domain region and a severe DEE as previously reported. In addition, 6 individuals with de novo missense variants in the GTPase domain and a more variable neurodevelopmental phenotypes with or without epilepsy. In contrast to variants in the BTB domain region, variants in the GTPase domain do not impair proteasomal degradation of RHOBTB2 in vitro, indicating different functional consequences.
In addition, 9 families with observed bi-allelic splice-site and truncating variants with variable neurodevelopmental phenotypes, indicating that complete loss of RHOBTB2 is pathogenic as well.; Changed publications: 29768694, 29276004, 37165955; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1862 ANK2 Elena Savva Phenotypes for gene: ANK2 were changed from Complex neurodevelopmental disorder, MONDO:0100038, ANK2-related to Complex neurodevelopmental disorder, MONDO:0100038, ANK2-related
Genetic Epilepsy v0.1861 ANK2 Elena Savva Phenotypes for gene: ANK2 were changed from Complex neurodevelopmental disorder, MONDO:0100038, ANK2-related to Complex neurodevelopmental disorder, MONDO:0100038, ANK2-related
Genetic Epilepsy v0.1860 ANK2 Elena Savva Phenotypes for gene: ANK2 were changed from Epilepsy, MONDO:0005027, Complex neurodevelopmental disorder, MONDO:0100038 to Complex neurodevelopmental disorder, MONDO:0100038, ANK2-related
Genetic Epilepsy v0.1859 ANK2 Elena Savva Marked gene: ANK2 as ready
Genetic Epilepsy v0.1859 ANK2 Elena Savva Gene: ank2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1859 ANK2 Elena Savva Classified gene: ANK2 as Green List (high evidence)
Genetic Epilepsy v0.1859 ANK2 Elena Savva Gene: ank2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1858 ANK2 Elena Savva Classified gene: ANK2 as Green List (high evidence)
Genetic Epilepsy v0.1858 ANK2 Elena Savva Gene: ank2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1857 UNC79 Zornitza Stark Phenotypes for gene: UNC79 were changed from Neurodevelopmental disorder (MONDO:0700092), UNC70-related to Neurodevelopmental disorder (MONDO:0700092), UNC79-related
Genetic Epilepsy v0.1856 UNC79 Elena Savva Phenotypes for gene: UNC79 were changed from Neurodevelopmental disorder (MONDO:0700092), UNC70-related to Neurodevelopmental disorder (MONDO:0700092), UNC70-related
Genetic Epilepsy v0.1856 UNC79 Elena Savva Phenotypes for gene: UNC79 were changed from Neurodevelopmental disorder (MONDO:0700092), UNC70-related to Neurodevelopmental disorder (MONDO:0700092), UNC70-related
Genetic Epilepsy v0.1856 UNC79 Elena Savva Phenotypes for gene: UNC79 were changed from Neurodevelopmental disorder (MONDO:0700092), UNC70-related to Neurodevelopmental disorder (MONDO:0700092), UNC70-related
Genetic Epilepsy v0.1855 UNC79 Elena Savva Classified gene: UNC79 as Green List (high evidence)
Genetic Epilepsy v0.1855 UNC79 Elena Savva Gene: unc79 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1855 UNC79 Elena Savva Phenotypes for gene: UNC79 were changed from Complex neurodevelopmental disorder - MONDO:0100038 to Neurodevelopmental disorder (MONDO:0700092), UNC70-related
Genetic Epilepsy v0.1855 UNC79 Elena Savva Classified gene: UNC79 as Green List (high evidence)
Genetic Epilepsy v0.1855 UNC79 Elena Savva Gene: unc79 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1854 UNC79 Elena Savva Marked gene: UNC79 as ready
Genetic Epilepsy v0.1854 UNC79 Elena Savva Gene: unc79 has been removed from the panel.
Genetic Epilepsy v0.1854 RNH1 Ain Roesley Classified gene: RNH1 as Green List (high evidence)
Genetic Epilepsy v0.1854 RNH1 Ain Roesley Gene: rnh1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1854 RNH1 Ain Roesley Publications for gene: RNH1 were set to PMID: 36935417; 37191094
Genetic Epilepsy v0.1854 RNH1 Ain Roesley Classified gene: RNH1 as Green List (high evidence)
Genetic Epilepsy v0.1854 RNH1 Ain Roesley Gene: rnh1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1854 RNH1 Ain Roesley Publications for gene: RNH1 were set to PMID: 36935417; 37191094
Genetic Epilepsy v0.1853 RNH1 Ain Roesley Publications for gene: RNH1 were set to PMID: 36935417
Genetic Epilepsy v0.1853 U2AF2 Elena Savva Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) to Neurodevelopmental disorder, U2AF2-related (MONDO:0700092)
Genetic Epilepsy v0.1853 UNC79 Krithika Murali edited their review of gene: UNC79: Changed phenotypes: Neurodevelopmental disorder - MONDO:0700092
Genetic Epilepsy v0.1853 RNH1 Ain Roesley Phenotypes for gene: RNH1 were changed from Neurodevelopmental disorder, MONDO:0700092, RNH1-related to Neurodevelopmental disorder, MONDO:0700092, RNH1-related; encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related
Genetic Epilepsy v0.1853 U2AF2 Elena Savva Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) to Neurodevelopmental disorder, U2AF2-related (MONDO:0700092)
Genetic Epilepsy v0.1853 U2AF2 Elena Savva Publications for gene: U2AF2 were set to 34112922; 37092751; 36747105; 37134193
Genetic Epilepsy v0.1853 U2AF2 Elena Savva Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) to Neurodevelopmental disorder, U2AF2-related (MONDO:0700092)
Genetic Epilepsy v0.1852 U2AF2 Elena Savva Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder MONDO:0700092, MMGT1-related to Neurodevelopmental disorder, U2AF2-related (MONDO:0700092)
Genetic Epilepsy v0.1852 U2AF2 Elena Savva Publications for gene: U2AF2 were set to 34112922
Genetic Epilepsy v0.1852 U2AF2 Elena Savva Classified gene: U2AF2 as Green List (high evidence)
Genetic Epilepsy v0.1852 U2AF2 Elena Savva Gene: u2af2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1852 U2AF2 Elena Savva Classified gene: U2AF2 as Green List (high evidence)
Genetic Epilepsy v0.1852 U2AF2 Elena Savva Gene: u2af2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1851 UNC79 Krithika Murali gene: UNC79 was added
gene: UNC79 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: UNC79 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UNC79 were set to PMID:37183800
Phenotypes for gene: UNC79 were set to Complex neurodevelopmental disorder - MONDO:0100038
Review for gene: UNC79 was set to AMBER
Added comment: PMID:37183800 Bayat et al 2023 report 6 unrelated patients with heterozygous NMD-predicted LoF variants in UNC79 - x1 canonical splice site variant, x5 nonsense/frameshift. 5 were confirmed de novo, 1 not identified in mother - father unavailable for testing. All variants absent in gnomAD and v2 pLI score for UNC79 is 1.

Patients with UNC79 variants were identified through GeneMatcher or an international network of Epilepsy and Genetics departments. x1 patient underwent duo exome sequencing, remaining had trio exome sequencing - no other causative variants identified.

Phenotypic features included:
- 4/6 autistic features
- 5/6 patients mild-moderate ID
- 4/6 behavioural issues (aggression, stereotypies)
- 4/6 epilepsy (focal to bilateral tonic-clonic seizures)
- 5/6 hypotonia

unc79 knockdown drosophila flies exhibited significantly higher rate of seizure-like behaviour than controls. unc79 haploinsufficiency shown to lead to significant reduction in protein levels of both unc79 and unc80 in mouse brains anddeficiency in hippocampal-dependent learning and memory in mice.

Authors have reviewed their own evidence in relation to the gene-disease criteria detailed by Strande et al 2017 and note that their clinical and experimental data provides moderate-level evidence supporting the association between UNC79 and a neurodevelopment disorder
including ASD.

Evidence emerging is promising, however Amber association favoured due to clinical phenotypic range reported between affected individuals and their lack of specificity.
Sources: Literature
Genetic Epilepsy v0.1851 ANK2 Karina Sandoval gene: ANK2 was added
gene: ANK2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANK2 were set to PMID:37195288
Phenotypes for gene: ANK2 were set to Epilepsy, MONDO:0005027, Complex neurodevelopmental disorder, MONDO:0100038
Review for gene: ANK2 was set to GREEN
Added comment: Paper included 12 individuals with LoF variants. 11 were confirmed de novo. Paper found broad NND comprising of ID, ASD and early onset epilepsy, both mild and severed ID & epilepsy.
Variants included 4 nonsense, 3 fs, 3 canonical splice, and 2 partial gene dels.
Early childhood epilepsy was reported in 7 of 12 patients. 4 patients had neonatal onset epilepsy. 1 patient had bilateral tonic-clinic seizures at 3 years of age. Another patient had focal epilepsy with focal motor seizures.
Sources: Literature
Genetic Epilepsy v0.1851 RNH1 Dean Phelan reviewed gene: RNH1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37191094; Phenotypes: encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1851 U2AF2 Paul De Fazio edited their review of gene: U2AF2: Changed publications: 34112922, 37092751, 36747105, 37134193
Genetic Epilepsy v0.1851 U2AF2 Paul De Fazio reviewed gene: U2AF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34112922,37092751,36747105,37134193; Phenotypes: Neurodevelopmental disorder, U2AF2-related (MONDO:0700092); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Genetic Epilepsy v0.1851 UNC13A Ain Roesley Marked gene: UNC13A as ready
Genetic Epilepsy v0.1851 UNC13A Ain Roesley Gene: unc13a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1851 UNC13A Ain Roesley Classified gene: UNC13A as Green List (high evidence)
Genetic Epilepsy v0.1851 UNC13A Ain Roesley Gene: unc13a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1850 UNC13A Ain Roesley gene: UNC13A was added
gene: UNC13A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: UNC13A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UNC13A were set to 28192369
Phenotypes for gene: UNC13A were set to neurodevelopmental disorder MONDO#0700092, UNC13A-related
Penetrance for gene: UNC13A were set to Complete
Review for gene: UNC13A was set to GREEN
gene: UNC13A was marked as current diagnostic
Added comment: Total of 3 probands with de novo Pro814Leu

Clinvar (believed to be a different proband reported in Lipstein 2017 in whom regression was never observed) :
Delayed speech and language development, Cerebellar ataxia, Tremor, Febrile seizure (within the age range of 3 months to 6 years), Developmental regression

VCGS internal cohort:
GDD, speech apraxia, febrile seizures, tremor, aortic root aneurysm, dilatation of the renal pelvis and Arnold-Chiari type I malformation

Lipstein 2017:
abnormal movements, developmental delay and autism
Sources: Literature
Genetic Epilepsy v0.1849 ESAM Zornitza Stark Phenotypes for gene: ESAM were changed from Neurodevelopmental disorder (MONDO#0700092), ESAM-related to Neurodevelopmental disorder with intracranial haemorrhage, seizures, and spasticity, MIM# 620371
Genetic Epilepsy v0.1848 ESAM Zornitza Stark reviewed gene: ESAM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with intracranial haemorrhage, seizures, and spasticity, MIM# 620371; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1848 SLITRK2 Zornitza Stark Phenotypes for gene: SLITRK2 were changed from Neurodevelopmental disorder, SLITRK2-related MONDO:0700092 to Intellectual developmental disorder, X-linked 111, MIM# 301107
Genetic Epilepsy v0.1847 SLITRK2 Zornitza Stark reviewed gene: SLITRK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 111, MIM# 301107; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.1847 CNOT9 Zornitza Stark Marked gene: CNOT9 as ready
Genetic Epilepsy v0.1847 CNOT9 Zornitza Stark Gene: cnot9 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1847 CNOT9 Zornitza Stark Mode of inheritance for gene: CNOT9 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1846 CNOT9 Zornitza Stark Classified gene: CNOT9 as Green List (high evidence)
Genetic Epilepsy v0.1846 CNOT9 Zornitza Stark Gene: cnot9 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1846 CNOT9 Zornitza Stark Classified gene: CNOT9 as Green List (high evidence)
Genetic Epilepsy v0.1846 CNOT9 Zornitza Stark Gene: cnot9 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1845 CNOT9 Karina Sandoval edited their review of gene: CNOT9: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1845 CNOT9 Karina Sandoval gene: CNOT9 was added
gene: CNOT9 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CNOT9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CNOT9 were set to PMID: 37092538
Phenotypes for gene: CNOT9 were set to Neurodevelopmental disorder, MONDO:0700092
Review for gene: CNOT9 was set to GREEN
Added comment: 7 individuals with de novo variants. In silico predictions of functional relevance. All affected persons have DD/ID, with five of them showing seizures. Other symptoms include.

Symptoms: Neuro dev disorder. ID, Epilepsy. All affected persons have DD/ID, with five of them showing seizures. Other symptoms include muscular hypotonia, facial dysmorphism, and behavioral abnormalities.
Sources: Literature
Genetic Epilepsy v0.1845 POLR1A Elena Savva Classified gene: POLR1A as Amber List (moderate evidence)
Genetic Epilepsy v0.1845 POLR1A Elena Savva Gene: polr1a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1845 POLR1A Elena Savva Classified gene: POLR1A as Amber List (moderate evidence)
Genetic Epilepsy v0.1845 POLR1A Elena Savva Gene: polr1a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1845 POLR1A Elena Savva Classified gene: POLR1A as Amber List (moderate evidence)
Genetic Epilepsy v0.1845 POLR1A Elena Savva Gene: polr1a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1845 POLR1A Elena Savva Classified gene: POLR1A as Amber List (moderate evidence)
Genetic Epilepsy v0.1845 POLR1A Elena Savva Gene: polr1a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1844 POLR1A Elena Savva Marked gene: POLR1A as ready
Genetic Epilepsy v0.1844 POLR1A Elena Savva Gene: polr1a has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1844 POLR1A Elena Savva gene: POLR1A was added
gene: POLR1A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: POLR1A were set to PMID: 37075751
Phenotypes for gene: POLR1A were set to Acrofacial dysostosis, Cincinnati type MIM#616462
Review for gene: POLR1A was set to AMBER
Added comment: PMID: 37075751 - reports individuals with epilepsy but an infrequent occurrence, found in 1/4 of the cohort
Sources: Literature
Genetic Epilepsy v0.1843 DNM1 Zornitza Stark Marked gene: DNM1 as ready
Genetic Epilepsy v0.1843 DNM1 Zornitza Stark Gene: dnm1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1843 DNM1 Zornitza Stark Phenotypes for gene: DNM1 were changed from Developmental and epileptic encephalopathy 31, OMIM:616346 to Developmental and epileptic encephalopathy 31A, autosomal dominant, MIM# 616346; Developmental and epileptic encephalopathy 31B, autosomal recessive, MIM# 620352
Genetic Epilepsy v0.1842 DNM1 Zornitza Stark edited their review of gene: DNM1: Changed phenotypes: Developmental and epileptic encephalopathy 31A, autosomal dominant, MIM# 616346, Developmental and epileptic encephalopathy 31B, autosomal recessive, MIM# 620352
Genetic Epilepsy v0.1842 DNAH14 Zornitza Stark Tag disputed tag was added to gene: DNAH14.
Genetic Epilepsy v0.1842 DNAH14 Elena Savva Classified gene: DNAH14 as Red List (low evidence)
Genetic Epilepsy v0.1842 DNAH14 Elena Savva Gene: dnah14 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1842 DNAH14 Elena Savva Classified gene: DNAH14 as Red List (low evidence)
Genetic Epilepsy v0.1842 DNAH14 Elena Savva Gene: dnah14 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1841 DNAH14 Elena Savva reviewed gene: DNAH14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1841 MED11 Zornitza Stark Phenotypes for gene: MED11 were changed from neurodevelopmental disorder MONDO#0700092, MED11-related to Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, MIM# 620327
Genetic Epilepsy v0.1840 MED11 Zornitza Stark reviewed gene: MED11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, MIM# 620327; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1840 CAMSAP1 Zornitza Stark Phenotypes for gene: CAMSAP1 were changed from lissencephaly spectrum disorders (MONDO:0018838), CAMSAP1-related to Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316
Genetic Epilepsy v0.1839 CAMSAP1 Zornitza Stark reviewed gene: CAMSAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1839 RNH1 Zornitza Stark Phenotypes for gene: RNH1 were changed from RNH1-related disorder to Neurodevelopmental disorder, MONDO:0700092, RNH1-related
Genetic Epilepsy v0.1838 RNH1 Zornitza Stark reviewed gene: RNH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, RNH1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1838 RNH1 Seb Lunke Marked gene: RNH1 as ready
Genetic Epilepsy v0.1838 RNH1 Seb Lunke Gene: rnh1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1838 RNH1 Seb Lunke Classified gene: RNH1 as Red List (low evidence)
Genetic Epilepsy v0.1838 RNH1 Seb Lunke Gene: rnh1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1837 ESAM Seb Lunke Marked gene: ESAM as ready
Genetic Epilepsy v0.1837 ESAM Seb Lunke Gene: esam has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1837 ESAM Seb Lunke Classified gene: ESAM as Green List (high evidence)
Genetic Epilepsy v0.1837 ESAM Seb Lunke Gene: esam has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1836 ESAM Chern Lim gene: ESAM was added
gene: ESAM was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESAM were set to 36996813
Phenotypes for gene: ESAM were set to Neurodevelopmental disorder (MONDO#0700092), ESAM-related
Review for gene: ESAM was set to GREEN
gene: ESAM was marked as current diagnostic
Added comment: PMID 36996813
- Thirteen affected individuals, including four fetuses, from eight unrelated families, with homozygous loss-of-function-type variants in ESAM – 2 of the variants are frameshifts, 1x nonsense, 1x canonical splice.
- Affected individuals have profound global developmental delay/unspecified intellectual disability, epilepsy, absent or severely delayed speech, varying degrees of spasticity, ventriculomegaly, and ICH/cerebral calcifications, the latter being also observed in the fetuses.
- One of the frameshift variant c.115del (p.Arg39Glyfs*33), was detected in six individuals from four unrelated families from the same geographic region in Turkey (southeastern Anatolia), suggesting a founder effect.
- The c.451+1G>A variant was detected in three individuals from two independent families with the same ethnic origin (Arab Bedouin)
Sources: Literature
Genetic Epilepsy v0.1836 RNH1 Krithika Murali edited their review of gene: RNH1: Changed rating: RED
Genetic Epilepsy v0.1836 RNH1 Krithika Murali gene: RNH1 was added
gene: RNH1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: RNH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNH1 were set to PMID: 36935417
Phenotypes for gene: RNH1 were set to RNH1-related disorder
Review for gene: RNH1 was set to AMBER
Added comment: PMID: 36935417 report two siblings from a consanguineous Somali family with homozygous RNH1 splice site variant (c.615-2A>C) with congenital cataracts, global developmental delay, hypotonia, seizures (focal and generalised) and regression in the context of infection. RT-PCR and RNASeq of skeletal muscle supported exon 7 skipping with an in-frame deletion involving 57 amino acids with reduced expression on Western blot analysis.
Sources: Literature
Genetic Epilepsy v0.1836 SLC31A1 Zornitza Stark Phenotypes for gene: SLC31A1 were changed from Neurodevelopmental disorder, SLC31A1-related (MONDO#0700092) to Neurodegeneration and seizures due to copper transport defect, MIM# 620306
Genetic Epilepsy v0.1835 SLC31A1 Zornitza Stark Publications for gene: SLC31A1 were set to PMID: 35913762
Genetic Epilepsy v0.1834 SLC31A1 Zornitza Stark reviewed gene: SLC31A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration and seizures due to copper transport defect, MIM# 620306; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1834 AGO1 Zornitza Stark Phenotypes for gene: AGO1 were changed from Neurodevelopmental disorder MONDO:0700092, AGO1-related; non-syndromic ID and seizures to Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, MIM# 620292
Genetic Epilepsy v0.1833 AGO1 Zornitza Stark edited their review of gene: AGO1: Changed phenotypes: Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, MIM# 620292
Genetic Epilepsy v0.1833 TRPM3 Zornitza Stark Phenotypes for gene: TRPM3 were changed from Neurodevelopmental disorder, MONDO:0700092, TRPM3-related to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, MIM# 620224
Genetic Epilepsy v0.1832 TRPM3 Zornitza Stark edited their review of gene: TRPM3: Changed phenotypes: Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, MIM# 620224
Genetic Epilepsy v0.1832 CAMLG Seb Lunke Classified gene: CAMLG as Red List (low evidence)
Genetic Epilepsy v0.1832 CAMLG Seb Lunke Gene: camlg has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1831 CAMLG Seb Lunke Marked gene: CAMLG as ready
Genetic Epilepsy v0.1831 CAMLG Seb Lunke Gene: camlg has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1831 CAMLG Seb Lunke Classified gene: CAMLG as Red List (low evidence)
Genetic Epilepsy v0.1831 CAMLG Seb Lunke Gene: camlg has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1830 CAMLG Manny Jacobs gene: CAMLG was added
gene: CAMLG was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CAMLG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAMLG were set to 35262690
Phenotypes for gene: CAMLG were set to Congenital disorder of glycosylation type IIz, OMIM #: 620201
Penetrance for gene: CAMLG were set to unknown
Review for gene: CAMLG was set to RED
Added comment: PMID: 35262690 (2022)
Report one patient with hom splice variant. No other reported patients.
GDD, seizures, contractures, hypotonia and brain malformations.
Sources: Literature
Genetic Epilepsy v0.1830 TCEAL1 Zornitza Stark Phenotypes for gene: TCEAL1 were changed from Neurodevelopmental disorder, MONDO:0700092, TCEAL1-related hypotonia, abnormal gait, developmental delay, intellectual disability, autism, dysmorphic facial features. to Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, MIM# 301094
Genetic Epilepsy v0.1829 TCEAL1 Zornitza Stark reviewed gene: TCEAL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, MIM# 301094; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.1829 BSN Krithika Murali changed review comment from: Ye et al 2022, Neurogenetics identified 4 unrelated individuals with epilepsy and compound heterozygous BSN variants via trio WES (combination of null and missense). Homozygous knockout mouse models showed abnormal CNS transmission and seizure activity. None of the identified variants were present in population databases as homozygotes. One individual had ID and microcephaly but all other individuals with biallelic variants had normal development.

In addition, heterozygous variants were identified in unrelated affected individuals - 2 apparently co-segregating missense variants and 2 de novo null variants. These variants were either absent in population databases or rare. The authors note that affected individuals with heterozygous variants had milder disease - either requiring no therapy or monotherapy only. Heterozygous knockout mice had no phenotype and there were not enough affected individuals in the families to truly determine co-segregation. In addition, carrier parents of individuals with biallelic variants did not appear to be affected.

Association between biallelic variants and epilepsy stronger than for monoallelic.
Sources: Literature; to: Ye et al 2022, Neurogenetics https://jmg.bmj.com/content/early/2022/12/12/jmg-2022-108865
Identified 4 unrelated individuals with epilepsy and compound heterozygous BSN variants via trio WES (combination of null and missense). Homozygous knockout mouse models showed abnormal CNS transmission and seizure activity. None of the identified variants were present in population databases as homozygotes. One individual had ID and microcephaly but all other individuals with biallelic variants had normal development.

In addition, heterozygous variants were identified in unrelated affected individuals - 2 apparently co-segregating missense variants and 2 de novo null variants. These variants were either absent in population databases or rare. The authors note that affected individuals with heterozygous variants had milder disease - either requiring no therapy or monotherapy only. Heterozygous knockout mice had no phenotype and there were not enough affected individuals in the families to truly determine co-segregation. In addition, carrier parents of individuals with biallelic variants did not appear to be affected.

Association between biallelic variants and epilepsy stronger than for monoallelic.
Sources: Literature
Genetic Epilepsy v0.1829 BSN Zornitza Stark Marked gene: BSN as ready
Genetic Epilepsy v0.1829 BSN Zornitza Stark Added comment: Comment when marking as ready: We are aware of additional mono allelic cases.
Genetic Epilepsy v0.1829 BSN Zornitza Stark Gene: bsn has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1829 BSN Zornitza Stark Mode of inheritance for gene: BSN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1828 BSN Zornitza Stark Classified gene: BSN as Green List (high evidence)
Genetic Epilepsy v0.1828 BSN Zornitza Stark Gene: bsn has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1827 EIF4A2 Zornitza Stark Marked gene: EIF4A2 as ready
Genetic Epilepsy v0.1827 EIF4A2 Zornitza Stark Gene: eif4a2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1827 EIF4A2 Zornitza Stark Classified gene: EIF4A2 as Green List (high evidence)
Genetic Epilepsy v0.1827 EIF4A2 Zornitza Stark Gene: eif4a2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1826 SLC31A1 Alison Yeung Classified gene: SLC31A1 as Amber List (moderate evidence)
Genetic Epilepsy v0.1826 SLC31A1 Alison Yeung Gene: slc31a1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1825 SLC31A1 Alison Yeung Classified gene: SLC31A1 as Amber List (moderate evidence)
Genetic Epilepsy v0.1825 SLC31A1 Alison Yeung Gene: slc31a1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1824 SLC31A1 Daniel Flanagan edited their review of gene: SLC31A1: Added comment: Homozygous c.236T>C; p.(Leu79Pro) identified in a newborn of consanguineous parents. Variant absent from gnomAD. Prenatal ultrasound showed a male fetus with short femoral bones, an apparently enlarged heart-to-thorax ratio, and a wide cisterna magna. The infant was born with pulmonary hypoplasia. At 2 weeks of age, multifocal brain hemorrhages were diagnosed and the infant developed seizures. The infant died at 1 month of age. The Mother had three healthy children while nine pregnancies had been extrauterine gravidities or ended in first or mid-trimester spontaneous abortions.; Changed rating: AMBER; Changed publications: PMID: 35913762, 36562171
Genetic Epilepsy v0.1824 BSN Krithika Murali gene: BSN was added
gene: BSN was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: BSN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BSN were set to Epilepsy MONDO:0005027
Review for gene: BSN was set to GREEN
Added comment: Ye et al 2022, Neurogenetics identified 4 unrelated individuals with epilepsy and compound heterozygous BSN variants via trio WES (combination of null and missense). Homozygous knockout mouse models showed abnormal CNS transmission and seizure activity. None of the identified variants were present in population databases as homozygotes. One individual had ID and microcephaly but all other individuals with biallelic variants had normal development.

In addition, heterozygous variants were identified in unrelated affected individuals - 2 apparently co-segregating missense variants and 2 de novo null variants. These variants were either absent in population databases or rare. The authors note that affected individuals with heterozygous variants had milder disease - either requiring no therapy or monotherapy only. Heterozygous knockout mice had no phenotype and there were not enough affected individuals in the families to truly determine co-segregation. In addition, carrier parents of individuals with biallelic variants did not appear to be affected.

Association between biallelic variants and epilepsy stronger than for monoallelic.
Sources: Literature
Genetic Epilepsy v0.1824 EIF4A2 Dean Phelan gene: EIF4A2 was added
gene: EIF4A2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: EIF4A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: EIF4A2 were set to PMID: 36528028
Phenotypes for gene: EIF4A2 were set to Neurodevelopmental disorder (MONDO:0700092), EIF4A2-related
Mode of pathogenicity for gene: EIF4A2 was set to Other
Review for gene: EIF4A2 was set to GREEN
Added comment: PMID: 36528028
- EIF4A2 variants were observed in 15 individuals from 14 families. Affected individuals had a range of symptoms including global developmental delay (9/15), ID (7/15), epilepsy (11/15) and structural brain alterations (10/15). Monoallelic and biallelic variants were reported and functional studies showed both LOF and GOF disease mechanisms.
Sources: Literature
Genetic Epilepsy v0.1824 TRA2B Seb Lunke Classified gene: TRA2B as Green List (high evidence)
Genetic Epilepsy v0.1824 TRA2B Seb Lunke Gene: tra2b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1824 TRA2B Seb Lunke Classified gene: TRA2B as Green List (high evidence)
Genetic Epilepsy v0.1824 TRA2B Seb Lunke Gene: tra2b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1823 TRA2B Seb Lunke Marked gene: TRA2B as ready
Genetic Epilepsy v0.1823 TRA2B Seb Lunke Gene: tra2b has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1823 TRA2B Elena Savva gene: TRA2B was added
gene: TRA2B was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TRA2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRA2B were set to PMID: 36549593
Phenotypes for gene: TRA2B were set to Neurodevelopmental disorder, TRA2B-related (MONDO#0700092)
Review for gene: TRA2B was set to GREEN
Added comment: PMID: 36549593
- 12 individuals with ID and dev delay. Additional features include infantile spams 6/12, hypotonia 12/12, dilated brain ventricles 6/12, microcephaly 5/12
- All variants result in the loss of 1/2 transcripts (start-losses or PTCs upstream of a second translation start position). Shorter transcript expression is increased, longer transcript expression is decreased.
- Apparently het mice K/O are normal, but complete K/O cannot develop embryonically.
- DN mechanism suggested
Sources: Literature
Genetic Epilepsy v0.1822 Zornitza Stark List of related panels changed from to Seizure; HP:0001250
Genetic Epilepsy v0.1821 CLDN5 Zornitza Stark Marked gene: CLDN5 as ready
Genetic Epilepsy v0.1821 CLDN5 Zornitza Stark Gene: cldn5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1821 CLDN5 Zornitza Stark Phenotypes for gene: CLDN5 were changed from seizures; developmental delay; microcephaly; brain calcifications to Syndromic disorder, MONDO:0002254, CLDN5-related
Genetic Epilepsy v0.1820 CLDN5 Zornitza Stark Mode of pathogenicity for gene: CLDN5 was changed from None to None
Genetic Epilepsy v0.1819 CLDN5 Zornitza Stark Mode of pathogenicity for gene: CLDN5 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None
Genetic Epilepsy v0.1818 CLDN5 Zornitza Stark Classified gene: CLDN5 as Green List (high evidence)
Genetic Epilepsy v0.1818 CLDN5 Zornitza Stark Gene: cldn5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1817 CLDN5 Zornitza Stark reviewed gene: CLDN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Syndromic disorder, MONDO:0002254, CLDN5-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1817 CLDN5 Suliman Khan gene: CLDN5 was added
gene: CLDN5 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CLDN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLDN5 were set to PMID: 36477332
Phenotypes for gene: CLDN5 were set to seizures; developmental delay; microcephaly; brain calcifications
Penetrance for gene: CLDN5 were set to Complete
Mode of pathogenicity for gene: CLDN5 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: CLDN5 was set to GREEN
Added comment: PMID: 36477332 identified de novo heterozygous missense variants in CLDN5 in fifteen unrelated patients who presented with a shared constellation of features including developmental delay, seizures (primarily infantile onset focal epilepsy), microcephaly and a recognizable pattern of pontine atrophy and brain calcifications.
Sources: Literature
Genetic Epilepsy v0.1817 CACNA2D1 Zornitza Stark Phenotypes for gene: CACNA2D1 were changed from Developmental and epileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related to Developmental and epileptic encephalopathy 110, MIM# 620149
Genetic Epilepsy v0.1816 FZR1 Zornitza Stark Phenotypes for gene: FZR1 were changed from Developmental and epileptic encephalopathy, FZR1-related, MONDO:0100062 to Developmental and epileptic encephalopathy 109, MIM# 620145
Genetic Epilepsy v0.1815 FZR1 Zornitza Stark reviewed gene: FZR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 109, MIM# 620145; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1815 ASH1L Zornitza Stark Marked gene: ASH1L as ready
Genetic Epilepsy v0.1815 ASH1L Zornitza Stark Gene: ash1l has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1815 ASH1L Zornitza Stark Classified gene: ASH1L as Green List (high evidence)
Genetic Epilepsy v0.1815 ASH1L Zornitza Stark Gene: ash1l has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1814 ASH1L Zornitza Stark gene: ASH1L was added
gene: ASH1L was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ASH1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ASH1L were set to 34373061; 25961944; 34782621; 32469098
Phenotypes for gene: ASH1L were set to Mental retardation, autosomal dominant 52, MIM#617796
Review for gene: ASH1L was set to GREEN
Added comment: Liu et al 2021 - twin sisters with mild intellectual disability and seizures. WES identified a de novo nonsense variant in exon 3.
In this paper they look at previously reported variants and others reported in patients presenting with a seizure phenotype -Table 2:
p.Glu2143* - autism spectrum disorder (seizure) - ref 7
p.Arg2391His - Intellectual disability (seizure) - ref 7
p.Arg2421* - intellectual disability/developmental delay (seizure) - ref 7
(Ref 7 - Krumm et al, 2015, Nat Genet, 47:582-88).

Krumm et al, 2015 - cohort of patients with myoclonic atonic seizures (MAE) - table 2 shows that 1 patient idenitifed in this cohort (de novo) and that two additional patients were identified in the Iossifov proband (family 13678 - nonsense - can't see anything re epilepsy phenotype) and de rubeis proband (no mention in this paper that they had epilepsy pheno - PMID 25363760) - all de novo (2 nonsense 1 fs)

Qin et al 2021 - The elevated PFC pyramidal neuronal excitability, increased E/I ratio, and excessive synchronised cortical network activity of Ash1L-deficient mice is linked to seizures, which recapitulates the phenotype of some autistic children carrying ASH1L variants.

Tang et al, 2020 - table 3 candidate variants - ASH1L - de novo variant p.Arg1342* - 7 year old male with seizure onset at 6 months refractory to treatment, also mod- severe ID, ASD and ADHD.

3 definite families where de novo nonsense/fs variants have been reported in individuals with an epilepsy phenotype as well as ASD/ ID in the literature, patients reported in decipher with seizure phenotype and ASHIL variant (2 de novo nonsense, 1 de novo fs reported as pathogenic), and mouse studies support role for ASHIL in epeilepsy phenotype.
Sources: Literature
Genetic Epilepsy v0.1813 ARF3 Zornitza Stark Phenotypes for gene: ARF3 were changed from Global developmental delay; Intellectual disability; Seizures; Morphological abnormality of the central nervous system to Neurodevelopmental disorder (MONDO:0700092), ARF3-related; Global developmental delay; Intellectual disability; Seizures; Morphological abnormality of the central nervous system
Genetic Epilepsy v0.1812 ARF3 Zornitza Stark Publications for gene: ARF3 were set to 34346499
Genetic Epilepsy v0.1811 ARF3 Zornitza Stark Classified gene: ARF3 as Green List (high evidence)
Genetic Epilepsy v0.1811 ARF3 Zornitza Stark Gene: arf3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1810 TCEAL1 Zornitza Stark Marked gene: TCEAL1 as ready
Genetic Epilepsy v0.1810 TCEAL1 Zornitza Stark Gene: tceal1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1810 TCEAL1 Zornitza Stark Classified gene: TCEAL1 as Amber List (moderate evidence)
Genetic Epilepsy v0.1810 TCEAL1 Zornitza Stark Gene: tceal1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1809 TCEAL1 Melanie Marty edited their review of gene: TCEAL1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, TCEAL1-related, hypotonia, abnormal gait, developmental delay, intellectual disability, autism, dysmorphic facial features
Genetic Epilepsy v0.1809 TCEAL1 Melanie Marty gene: TCEAL1 was added
gene: TCEAL1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TCEAL1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: TCEAL1 were set to PMID: 36368327
Phenotypes for gene: TCEAL1 were set to Neurodevelopmental disorder, MONDO:0700092, TCEAL1-related hypotonia, abnormal gait, developmental delay, intellectual disability, autism, dysmorphic facial features.
Review for gene: TCEAL1 was set to AMBER
Added comment: 7 individuals (males and females) with de novo variants involving TCEAL1 with an X-linked
dominant neurodevelopmental syndrome. Individuals had hypotonia, abnormal gait, developmental delay/intellectual disability especially affecting expressive language, autistic-like behavior, and mildly dysmorphic facial features. Additional features included strabismus, refractive errors, variable nystagmus, gastroesophageal reflux, constipation, dysmotility, recurrent infections, seizures, and structural brain anomalies.

1 additional male individual with a maternally inherited missense variant (unaffected mother), which was considered a VUS. This individual had hypertonia and spasticity without syndromic features.

4 PTCs, 2 CNVs, 2 missense reported.

Only 2 individuals had seizures = amber for this panel at this stage.
Sources: Literature
Genetic Epilepsy v0.1809 ARF3 Dean Phelan reviewed gene: ARF3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36369169, 34346499; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), ARF3-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1809 SHROOM4 Alison Yeung Classified gene: SHROOM4 as Green List (high evidence)
Genetic Epilepsy v0.1809 SHROOM4 Alison Yeung Gene: shroom4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1808 SHROOM4 Alison Yeung gene: SHROOM4 was added
gene: SHROOM4 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SHROOM4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SHROOM4 were set to 35663265
Phenotypes for gene: SHROOM4 were set to epilepsy, idiopathic generalised, SHROOM4-related, MONDO:0005579
Review for gene: SHROOM4 was set to GREEN
Added comment: Six unrelated cases with idiopathic epilepsy without intellectual disability. SHROOM4 variants were all missense variants and were located around the N-terminal PDZ domain and the C-terminal ASD2 domain
Sources: Literature
Genetic Epilepsy v0.1807 GABRA3 Zornitza Stark Marked gene: GABRA3 as ready
Genetic Epilepsy v0.1807 GABRA3 Zornitza Stark Gene: gabra3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1807 GABRA3 Zornitza Stark Phenotypes for gene: GABRA3 were changed from Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, MIM# 301091 to Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, MIM# 301091
Genetic Epilepsy v0.1807 GABRA3 Zornitza Stark Phenotypes for gene: GABRA3 were changed from Neurodevelopmental disorder, MONDO:0700092, GABRA3-related; Epilepsy, intellectual disability, dysmorphic features, to Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, MIM# 301091
Genetic Epilepsy v0.1806 GABRA3 Zornitza Stark Phenotypes for gene: GABRA3 were changed from Neurodevelopmental disorder, MONDO:0700092, GABRA3-related; Epilepsy, intellectual disability, dysmorphic features, to Neurodevelopmental disorder, MONDO:0700092, GABRA3-related; Epilepsy, intellectual disability, dysmorphic features,
Genetic Epilepsy v0.1806 GABRA3 Zornitza Stark Phenotypes for gene: GABRA3 were changed from Epilepsy, intellectual disability, dysmorphic features, to Neurodevelopmental disorder, MONDO:0700092, GABRA3-related; Epilepsy, intellectual disability, dysmorphic features,
Genetic Epilepsy v0.1805 GABRA3 Zornitza Stark Classified gene: GABRA3 as Green List (high evidence)
Genetic Epilepsy v0.1805 GABRA3 Zornitza Stark Gene: gabra3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1804 GABRA3 Zornitza Stark Classified gene: GABRA3 as Green List (high evidence)
Genetic Epilepsy v0.1804 GABRA3 Zornitza Stark Gene: gabra3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1803 GABRA3 Sarah Pantaleo gene: GABRA3 was added
gene: GABRA3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GABRA3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GABRA3 were set to PMID: 29053855
Phenotypes for gene: GABRA3 were set to Epilepsy, intellectual disability, dysmorphic features,
Penetrance for gene: GABRA3 were set to Incomplete
Review for gene: GABRA3 was set to GREEN
Added comment: Six variants in GABRA3 encoding the alpha3-subunit of the GABA(A) receptor.
Five missense variants and one micro duplication were detected in four families and two sporadic cases presenting with a range of epileptic seizure types, a varying degree of intellectual disability and developmental delay, sometimes with dysmorphic features or nystagmus.
The variants co-segregated mostly but not completely with the phenotype in the families, indicating in some cases incomplete penetrance, involvement of other genes, or presence of phenocopies.
Overall, males were more severely affected and there were three asymptomatic female mutation carriers compared to only one male without a clinical phenotype.
Mechanism suggested - three detected missense variants are localised in the extracellular GABA-binding NH2-terminus, one in the M2-M3 linker and one in the M4 transmembrane segment of the alpha3-subunit. Functional studies in Xenopus leaves oocytes revealed a variable but significant reduction of GABA-evoked anion currents for all mutants compared to wild-type receptors. The degree of current reduction correlated partially with the phenotype.
Results reveal that rare loss-of-function variants in GABRA3 increase the risk for a varying combination of epilepsy, intellectual disability/developmental delay and dysmorphic features, presenting in some pedigrees with an X-linked inheritance pattern.
Sources: Literature
Genetic Epilepsy v0.1803 GPHN Zornitza Stark Publications for gene: GPHN were set to 22040219; 11095995; 26613940; 24561070; 23393157
Genetic Epilepsy v0.1802 GPHN Achchuthan Shanmugasundram reviewed gene: GPHN: Rating: GREEN; Mode of pathogenicity: None; Publications: 34617111; Phenotypes: developmental and epileptic encephalopathy, MONDO:0100062; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1802 MAST3 Zornitza Stark Phenotypes for gene: MAST3 were changed from Developmental and epileptic encephalopathy to Developmental and epileptic encephalopathy 108, MIM#620115
Genetic Epilepsy v0.1801 MAST3 Zornitza Stark edited their review of gene: MAST3: Changed phenotypes: Developmental and epileptic encephalopathy 108, MIM#620115
Genetic Epilepsy v0.1801 CACNA1I Zornitza Stark Phenotypes for gene: CACNA1I were changed from Neurodevelopmental disorder to Neurodevelopmental disorder with variable intellectual disability and speech impairment, with or without seizures (NEDISS), MIM#620114
Genetic Epilepsy v0.1800 CAMSAP1 Zornitza Stark Marked gene: CAMSAP1 as ready
Genetic Epilepsy v0.1800 CAMSAP1 Zornitza Stark Gene: camsap1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1800 CAMSAP1 Zornitza Stark Classified gene: CAMSAP1 as Green List (high evidence)
Genetic Epilepsy v0.1800 CAMSAP1 Zornitza Stark Gene: camsap1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1799 CAMSAP1 Naomi Baker gene: CAMSAP1 was added
gene: CAMSAP1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CAMSAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAMSAP1 were set to 36283405
Phenotypes for gene: CAMSAP1 were set to lissencephaly spectrum disorders (MONDO:0018838), CAMSAP1-related
Review for gene: CAMSAP1 was set to GREEN
Added comment: Five unrelated families with bi-allelic loss-of-function variants. Clinical features of the syndrome include a characteristic craniofacial appearance, primary microcephaly, lissencephaly, agenesis or severe hypogenesis of the corpus callosum, severe neurodevelopmental delay, cortical visual impairment, and seizures.
Sources: Literature
Genetic Epilepsy v0.1799 PI4K2A Seb Lunke Marked gene: PI4K2A as ready
Genetic Epilepsy v0.1799 PI4K2A Seb Lunke Gene: pi4k2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1799 PI4K2A Seb Lunke Classified gene: PI4K2A as Green List (high evidence)
Genetic Epilepsy v0.1799 PI4K2A Seb Lunke Gene: pi4k2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1798 KLHL20 Zornitza Stark Marked gene: KLHL20 as ready
Genetic Epilepsy v0.1798 KLHL20 Zornitza Stark Gene: klhl20 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1798 KLHL20 Zornitza Stark Classified gene: KLHL20 as Green List (high evidence)
Genetic Epilepsy v0.1798 KLHL20 Zornitza Stark Gene: klhl20 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1798 PI4K2A Seb Lunke gene: PI4K2A was added
gene: PI4K2A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PI4K2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PI4K2A were set to 30564627; 35880319; 19581584
Phenotypes for gene: PI4K2A were set to complex neurodevelopmental disorder with motor features, PI4K2A-related, MONDO:0100516
Review for gene: PI4K2A was set to GREEN
Added comment: Two reportedly unrelated, consanguine families with the same hom stop mutation in PI4K2A, p.(Arg309Ter). Probands with seizures, developmental delay, hypotonia/dystonia, myoclonus and developmental delay. MRI showed extensive brain abnormalities including dysgenesis of the corpus callosum, ventriculomegaly, and white matter volume loss.

Functional studies showed cellular mislocalisation of the Arg309Ter truncated protein construct compared to WT and an missense control.

An earlier paper from 2018 described two additional probands with a different stop mutation, p.(Ser22Ter), and overlapping phenotypic presentation.

in 2011, a Pi4k2a knock-out mouse model was described. "Knock-out animals initially appeared normal but later develop a progressive neurological dis-ease characterized by tremor, limb weakness, urinary incontinence and premature mortality. Histological analysis revealed massive axonal degeneration in the spinal cord in the descending corticospinal tracts."
Sources: Literature
Genetic Epilepsy v0.1797 MYCBP2 Zornitza Stark Marked gene: MYCBP2 as ready
Genetic Epilepsy v0.1797 MYCBP2 Zornitza Stark Gene: mycbp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1797 MYCBP2 Zornitza Stark Phenotypes for gene: MYCBP2 were changed from Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related; corpus callosum abnormalities to Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related; corpus callosum abnormalities
Genetic Epilepsy v0.1797 MYCBP2 Suliman Khan edited their review of gene: MYCBP2: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related corpus callosum abnormalities
Genetic Epilepsy v0.1797 MYCBP2 Zornitza Stark Phenotypes for gene: MYCBP2 were changed from intellectual disability, epilepsy, autistic features and callosum abnormalities to Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related; corpus callosum abnormalities
Genetic Epilepsy v0.1796 MYCBP2 Zornitza Stark Classified gene: MYCBP2 as Green List (high evidence)
Genetic Epilepsy v0.1796 MYCBP2 Zornitza Stark Gene: mycbp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1795 KLHL20 Dean Phelan gene: KLHL20 was added
gene: KLHL20 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KLHL20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLHL20 were set to PMID: 36214804
Phenotypes for gene: KLHL20 were set to Neurodevelopmental disorder (MONDO:0700092), KLHL20-related
Review for gene: KLHL20 was set to GREEN
Added comment: PMID: 36214804
- 14 patients with de novo missense variants in KLHL20. The patients had mild to severe ID, febrile seizures or epilepsy, autism spectrum disorder, hyperactivity and subtle dysmorphic facial features.
Sources: Literature
Genetic Epilepsy v0.1795 MYCBP2 Zornitza Stark reviewed gene: MYCBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36200388; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related, corpus callosum abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1795 MYCBP2 Suliman Khan gene: MYCBP2 was added
gene: MYCBP2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MYCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYCBP2 were set to PMID: 36200388
Phenotypes for gene: MYCBP2 were set to intellectual disability, epilepsy, autistic features and callosum abnormalities
Penetrance for gene: MYCBP2 were set to Complete
Review for gene: MYCBP2 was set to GREEN
Added comment: Sources: Literature
Genetic Epilepsy v0.1795 FRMD5 Zornitza Stark Phenotypes for gene: FRMD5 were changed from Neurodevelopmental disorder MONDO:0700092, FRMD5-related to Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094
Genetic Epilepsy v0.1794 FRMD5 Zornitza Stark edited their review of gene: FRMD5: Changed phenotypes: Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094
Genetic Epilepsy v0.1794 LETM1 Zornitza Stark Phenotypes for gene: LETM1 were changed from Mitochondrial disease MONDO#0044970, LETM1-related to Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089
Genetic Epilepsy v0.1793 LETM1 Zornitza Stark edited their review of gene: LETM1: Changed phenotypes: Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1793 GBA Zornitza Stark Marked gene: GBA as ready
Genetic Epilepsy v0.1793 GBA Zornitza Stark Gene: gba has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1793 GBA Zornitza Stark Phenotypes for gene: GBA were changed from to Gaucher disease, perinatal lethal, MIM# 608013; Gaucher disease, type I, MIM# 230800; Gaucher disease, type II, MIM# 230900; Gaucher disease, type III, MIM# 231000; Gaucher disease, type IIIC, MIM# 231005
Genetic Epilepsy v0.1792 GBA Zornitza Stark Mode of inheritance for gene: GBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1791 GBA Zornitza Stark reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Gaucher disease, perinatal lethal, MIM# 608013, Gaucher disease, type I, MIM# 230800, Gaucher disease, type II, MIM# 230900, Gaucher disease, type III, MIM# 231000, Gaucher disease, type IIIC, MIM# 231005; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1791 EIF2B5 Zornitza Stark Marked gene: EIF2B5 as ready
Genetic Epilepsy v0.1791 EIF2B5 Zornitza Stark Gene: eif2b5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1791 EIF2B5 Zornitza Stark Phenotypes for gene: EIF2B5 were changed from to leukoencephalopathy with vanishing white matter MONDO:0011380
Genetic Epilepsy v0.1790 EIF2B5 Zornitza Stark Publications for gene: EIF2B5 were set to 11704758; 12325082; 12707859; 14694060; 15136689; 18263758; 25843247; 25761052
Genetic Epilepsy v0.1789 EIF2B5 Zornitza Stark Publications for gene: EIF2B5 were set to
Genetic Epilepsy v0.1788 EIF2B5 Zornitza Stark Mode of inheritance for gene: EIF2B5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1787 EIF2B5 Zornitza Stark reviewed gene: EIF2B5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genetic Epilepsy v0.1787 CNKSR2 Zornitza Stark Phenotypes for gene: CNKSR2 were changed from Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008 to Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008
Genetic Epilepsy v0.1787 CNKSR2 Zornitza Stark Marked gene: CNKSR2 as ready
Genetic Epilepsy v0.1787 CNKSR2 Zornitza Stark Gene: cnksr2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1787 CNKSR2 Zornitza Stark Phenotypes for gene: CNKSR2 were changed from to Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008
Genetic Epilepsy v0.1786 CNKSR2 Zornitza Stark Publications for gene: CNKSR2 were set to
Genetic Epilepsy v0.1785 CNKSR2 Zornitza Stark Mode of inheritance for gene: CNKSR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.1784 CLN8 Zornitza Stark Marked gene: CLN8 as ready
Genetic Epilepsy v0.1784 CLN8 Zornitza Stark Gene: cln8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1784 CLN8 Zornitza Stark Phenotypes for gene: CLN8 were changed from to Ceroid lipofuscinosis, neuronal, 8, MIM# 600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003
Genetic Epilepsy v0.1783 CLN8 Zornitza Stark Publications for gene: CLN8 were set to
Genetic Epilepsy v0.1782 CLN8 Zornitza Stark Mode of inheritance for gene: CLN8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1781 CLN3 Zornitza Stark Marked gene: CLN3 as ready
Genetic Epilepsy v0.1781 CLN3 Zornitza Stark Gene: cln3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1781 CLN3 Zornitza Stark Phenotypes for gene: CLN3 were changed from to Ceroid lipofuscinosis, neuronal, 3, MIM# 204200; MONDO:0008767
Genetic Epilepsy v0.1780 CLN3 Zornitza Stark Publications for gene: CLN3 were set to
Genetic Epilepsy v0.1779 CLN3 Zornitza Stark Mode of inheritance for gene: CLN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1778 CLN3 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Seizures are part of the phenotype of this progressive neurometabolic disorder.
Genetic Epilepsy v0.1778 CC2D2A Zornitza Stark Marked gene: CC2D2A as ready
Genetic Epilepsy v0.1778 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1778 CC2D2A Zornitza Stark Phenotypes for gene: CC2D2A were changed from to Joubert syndrome 9, MIM#612285
Genetic Epilepsy v0.1777 CC2D2A Zornitza Stark Publications for gene: CC2D2A were set to
Genetic Epilepsy v0.1776 CC2D2A Zornitza Stark Mode of inheritance for gene: CC2D2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1775 CC2D2A Zornitza Stark commented on gene: CC2D2A: Seizures are a feature particularly of JBTS.
Genetic Epilepsy v0.1775 CASK Zornitza Stark Marked gene: CASK as ready
Genetic Epilepsy v0.1775 CASK Zornitza Stark Gene: cask has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1775 CASK Zornitza Stark Phenotypes for gene: CASK were changed from to FG syndrome 4 MIM#300422; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749; Mental retardation, with or without nystagmus MIM#300422
Genetic Epilepsy v0.1774 CASK Zornitza Stark Publications for gene: CASK were set to
Genetic Epilepsy v0.1773 CASK Zornitza Stark Mode of inheritance for gene: CASK was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.1772 CASK Zornitza Stark reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.1772 CACNA2D1 Zornitza Stark Marked gene: CACNA2D1 as ready
Genetic Epilepsy v0.1772 CACNA2D1 Zornitza Stark Gene: cacna2d1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1772 HNRNPR Zornitza Stark Phenotypes for gene: HNRNPR were changed from Intellectual disability; seizures to Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM# 620073
Genetic Epilepsy v0.1771 HNRNPR Zornitza Stark edited their review of gene: HNRNPR: Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM# 620073
Genetic Epilepsy v0.1771 GAMT Zornitza Stark Marked gene: GAMT as ready
Genetic Epilepsy v0.1771 GAMT Zornitza Stark Gene: gamt has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1771 GAMT Zornitza Stark Phenotypes for gene: GAMT were changed from to Cerebral creatine deficiency syndrome 2 MIM#612736; Disorders of creatinine metabolism
Genetic Epilepsy v0.1770 GAMT Zornitza Stark Publications for gene: GAMT were set to
Genetic Epilepsy v0.1769 GAMT Zornitza Stark Mode of inheritance for gene: GAMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1768 GAMT Zornitza Stark Tag treatable tag was added to gene: GAMT.
Genetic Epilepsy v0.1768 CACNA1A Zornitza Stark Marked gene: CACNA1A as ready
Genetic Epilepsy v0.1768 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1768 CACNA1A Zornitza Stark Phenotypes for gene: CACNA1A were changed from to Developmental and epileptic encephalopathy 42, MIM# 617106
Genetic Epilepsy v0.1767 CACNA1A Zornitza Stark Publications for gene: CACNA1A were set to
Genetic Epilepsy v0.1766 CACNA1A Zornitza Stark Mode of inheritance for gene: CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1765 CACNA1A Zornitza Stark Mode of inheritance for gene: CACNA1A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1765 CACNA1A Zornitza Stark Mode of inheritance for gene: CACNA1A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1764 CACNA1A Zornitza Stark Classified gene: CACNA1A as Green List (high evidence)
Genetic Epilepsy v0.1764 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1763 CACNA1A Zornitza Stark reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27476654; Phenotypes: Developmental and epileptic encephalopathy 42, MIM# 617106; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1763 CACNA1A Zornitza Stark Mode of inheritance for gene: CACNA1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1762 CACNA1A Zornitza Stark Classified gene: CACNA1A as Amber List (moderate evidence)
Genetic Epilepsy v0.1762 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1761 C2orf69 Zornitza Stark Marked gene: C2orf69 as ready
Genetic Epilepsy v0.1761 C2orf69 Zornitza Stark Gene: c2orf69 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1761 C12orf57 Zornitza Stark Marked gene: C12orf57 as ready
Genetic Epilepsy v0.1761 C12orf57 Zornitza Stark Added comment: Comment when marking as ready: Seizures are part of the phenotype.
Genetic Epilepsy v0.1761 C12orf57 Zornitza Stark Gene: c12orf57 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1761 C12orf57 Zornitza Stark Phenotypes for gene: C12orf57 were changed from to Temtamy syndrome MIM#218340
Genetic Epilepsy v0.1760 C12orf57 Zornitza Stark Publications for gene: C12orf57 were set to
Genetic Epilepsy v0.1759 C12orf57 Zornitza Stark Mode of inheritance for gene: C12orf57 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1758 BTD Zornitza Stark Marked gene: BTD as ready
Genetic Epilepsy v0.1758 BTD Zornitza Stark Gene: btd has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1758 BTD Zornitza Stark Phenotypes for gene: BTD were changed from to Biotinidase deficiency, MIM 253260
Genetic Epilepsy v0.1757 BTD Zornitza Stark Publications for gene: BTD were set to
Genetic Epilepsy v0.1756 BTD Zornitza Stark Mode of inheritance for gene: BTD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1755 BOLA3 Zornitza Stark Marked gene: BOLA3 as ready
Genetic Epilepsy v0.1755 BOLA3 Zornitza Stark Gene: bola3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1755 BOLA3 Zornitza Stark Phenotypes for gene: BOLA3 were changed from to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299
Genetic Epilepsy v0.1754 BOLA3 Zornitza Stark Publications for gene: BOLA3 were set to
Genetic Epilepsy v0.1753 BOLA3 Zornitza Stark Mode of inheritance for gene: BOLA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1752 BCS1L Zornitza Stark Marked gene: BCS1L as ready
Genetic Epilepsy v0.1752 BCS1L Zornitza Stark Gene: bcs1l has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1752 BCS1L Zornitza Stark Phenotypes for gene: BCS1L were changed from to Bjornstad syndrome, MIM# 262000; Leigh syndrome, MIM# 256000; BCS1L-related mitochondrial disease
Genetic Epilepsy v0.1751 BCS1L Zornitza Stark Publications for gene: BCS1L were set to 24172246; 17314340; 9545407
Genetic Epilepsy v0.1750 BCS1L Zornitza Stark Publications for gene: BCS1L were set to
Genetic Epilepsy v0.1749 BCS1L Zornitza Stark Mode of inheritance for gene: BCS1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1748 BCKDHB Zornitza Stark Marked gene: BCKDHB as ready
Genetic Epilepsy v0.1748 BCKDHB Zornitza Stark Gene: bckdhb has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1748 BCKDHB Zornitza Stark Phenotypes for gene: BCKDHB were changed from to Maple syrup urine disease, type Ib, MIM# 248600
Genetic Epilepsy v0.1747 BCKDHB Zornitza Stark Publications for gene: BCKDHB were set to
Genetic Epilepsy v0.1746 BCKDHB Zornitza Stark Mode of inheritance for gene: BCKDHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1745 BCKDHB Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, seizures are part of the phenotype.
Genetic Epilepsy v0.1745 ETHE1 Zornitza Stark Tag treatable tag was added to gene: ETHE1.
Genetic Epilepsy v0.1745 BCKDHA Zornitza Stark Marked gene: BCKDHA as ready
Genetic Epilepsy v0.1745 BCKDHA Zornitza Stark Gene: bckdha has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1745 BCKDHA Zornitza Stark Phenotypes for gene: BCKDHA were changed from to Maple syrup urine disease, type Ia, MIM# 248600
Genetic Epilepsy v0.1744 BCKDHA Zornitza Stark Publications for gene: BCKDHA were set to
Genetic Epilepsy v0.1743 BCKDHA Zornitza Stark Mode of inheritance for gene: BCKDHA was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1742 BCKDHA Zornitza Stark Mode of inheritance for gene: BCKDHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1741 BCKDHA Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Seizures are part of the phenotype.
Genetic Epilepsy v0.1741 ATRX Zornitza Stark Marked gene: ATRX as ready
Genetic Epilepsy v0.1741 ATRX Zornitza Stark Gene: atrx has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1741 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from to Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Intellectual disability-hypotonic facies syndrome, X-linked, MIM# 309580
Genetic Epilepsy v0.1740 ATRX Zornitza Stark Mode of inheritance for gene: ATRX was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.1739 ATRX Zornitza Stark reviewed gene: ATRX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-thalassemia/mental retardation syndrome, MIM# 301040, Intellectual disability-hypotonic facies syndrome, X-linked, MIM# 309580; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.1739 ATP6AP2 Zornitza Stark Marked gene: ATP6AP2 as ready
Genetic Epilepsy v0.1739 ATP6AP2 Zornitza Stark Gene: atp6ap2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1739 ATP6AP2 Zornitza Stark reviewed gene: ATP6AP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.1739 ATP6AP2 Zornitza Stark Phenotypes for gene: ATP6AP2 were changed from to Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423
Genetic Epilepsy v0.1738 ATP6AP2 Zornitza Stark Publications for gene: ATP6AP2 were set to
Genetic Epilepsy v0.1737 ATP6AP2 Zornitza Stark Mode of pathogenicity for gene: ATP6AP2 was changed from Other to Other
Genetic Epilepsy v0.1736 ATP6AP2 Zornitza Stark Mode of pathogenicity for gene: ATP6AP2 was changed from to Other
Genetic Epilepsy v0.1735 ATP6AP2 Zornitza Stark Mode of inheritance for gene: ATP6AP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.1734 ASPA Zornitza Stark Marked gene: ASPA as ready
Genetic Epilepsy v0.1734 ASPA Zornitza Stark Gene: aspa has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1734 ASPA Zornitza Stark Phenotypes for gene: ASPA were changed from Canavan disease MIM#271900; disorder of amino acid metabolism to Canavan disease MIM#271900; disorder of amino acid metabolism
Genetic Epilepsy v0.1733 ASPA Zornitza Stark Phenotypes for gene: ASPA were changed from Canavan disease MIM#271900; disorder of amino acid metabolism to Canavan disease MIM#271900; disorder of amino acid metabolism
Genetic Epilepsy v0.1732 ASPA Zornitza Stark Phenotypes for gene: ASPA were changed from to Canavan disease MIM#271900; disorder of amino acid metabolism
Genetic Epilepsy v0.1731 ASPA Zornitza Stark Publications for gene: ASPA were set to
Genetic Epilepsy v0.1730 ASPA Zornitza Stark Mode of inheritance for gene: ASPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1729 ARX Zornitza Stark Marked gene: ARX as ready
Genetic Epilepsy v0.1729 ARX Zornitza Stark Gene: arx has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1729 ARX Zornitza Stark Phenotypes for gene: ARX were changed from Epileptic encephalopathy, early infantile, 1 MIM#308350; Hydranencephaly with abnormal genitalia MIM#300215; Lissencephaly, X-linked 2 MIM#300215; Mental retardation, X-linked 29 and others MIM#300419; Partington syndrome MIM#309510; Proud syndrome MIM#300004 to Epileptic encephalopathy, early infantile, 1 MIM#308350; Hydranencephaly with abnormal genitalia MIM#300215; Lissencephaly, X-linked 2 MIM#300215; Mental retardation, X-linked 29 and others MIM#300419; Partington syndrome MIM#309510; Proud syndrome MIM#300004
Genetic Epilepsy v0.1728 ARX Zornitza Stark Phenotypes for gene: ARX were changed from to Epileptic encephalopathy, early infantile, 1 MIM#308350; Hydranencephaly with abnormal genitalia MIM#300215; Lissencephaly, X-linked 2 MIM#300215; Mental retardation, X-linked 29 and others MIM#300419; Partington syndrome MIM#309510; Proud syndrome MIM#300004
Genetic Epilepsy v0.1727 ARX Zornitza Stark Publications for gene: ARX were set to
Genetic Epilepsy v0.1726 ARX Zornitza Stark Mode of inheritance for gene: ARX was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.1725 ARV1 Zornitza Stark Marked gene: ARV1 as ready
Genetic Epilepsy v0.1725 ARV1 Zornitza Stark Gene: arv1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1725 ARV1 Zornitza Stark Phenotypes for gene: ARV1 were changed from to Developmental and epileptic encephalopathy 38, MIM# 617020
Genetic Epilepsy v0.1724 ARV1 Zornitza Stark Publications for gene: ARV1 were set to
Genetic Epilepsy v0.1723 ARV1 Zornitza Stark Mode of inheritance for gene: ARV1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1722 ARID1B Zornitza Stark Marked gene: ARID1B as ready
Genetic Epilepsy v0.1722 ARID1B Zornitza Stark Gene: arid1b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1722 ARID1B Zornitza Stark Phenotypes for gene: ARID1B were changed from to Coffin-Siris syndrome 1 MIM#135900
Genetic Epilepsy v0.1721 ARID1B Zornitza Stark Mode of inheritance for gene: ARID1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1720 ARFGEF2 Zornitza Stark Marked gene: ARFGEF2 as ready
Genetic Epilepsy v0.1720 ARFGEF2 Zornitza Stark Gene: arfgef2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1720 ARFGEF2 Zornitza Stark Phenotypes for gene: ARFGEF2 were changed from to Periventricular heterotopia with microcephaly (MIM#608097)
Genetic Epilepsy v0.1719 ARFGEF2 Zornitza Stark Publications for gene: ARFGEF2 were set to
Genetic Epilepsy v0.1718 ARFGEF2 Zornitza Stark Mode of inheritance for gene: ARFGEF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1717 AMT Zornitza Stark Marked gene: AMT as ready
Genetic Epilepsy v0.1717 AMT Zornitza Stark Gene: amt has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1717 AMT Zornitza Stark Phenotypes for gene: AMT were changed from to Glycine encephalopathy MIM#605899; disorder of glycine metabolism
Genetic Epilepsy v0.1716 AMT Zornitza Stark Publications for gene: AMT were set to
Genetic Epilepsy v0.1715 AMT Zornitza Stark Mode of inheritance for gene: AMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1714 AMPD2 Zornitza Stark Marked gene: AMPD2 as ready
Genetic Epilepsy v0.1714 AMPD2 Zornitza Stark Gene: ampd2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1714 AMPD2 Zornitza Stark Phenotypes for gene: AMPD2 were changed from to Pontocerebellar hypoplasia, type 9, MIM#615809
Genetic Epilepsy v0.1713 AMPD2 Zornitza Stark Publications for gene: AMPD2 were set to
Genetic Epilepsy v0.1712 ALPL Zornitza Stark Marked gene: ALPL as ready
Genetic Epilepsy v0.1712 ALPL Zornitza Stark Gene: alpl has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1712 ALPL Zornitza Stark Phenotypes for gene: ALPL were changed from to Hypophosphatasia, adult 146300 (AD, AR); Hypophosphatasia, childhood 241510 AR; Hypophosphatasia, infantile 241500 AR; Odontohypophosphatasia 146300 AD, AR
Genetic Epilepsy v0.1711 ALPL Zornitza Stark Publications for gene: ALPL were set to
Genetic Epilepsy v0.1710 ALPL Zornitza Stark Mode of pathogenicity for gene: ALPL was changed from to Other
Genetic Epilepsy v0.1709 ALPL Zornitza Stark Mode of inheritance for gene: ALPL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1708 AKT3 Zornitza Stark Marked gene: AKT3 as ready
Genetic Epilepsy v0.1708 AKT3 Zornitza Stark Gene: akt3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1708 AKT3 Zornitza Stark Phenotypes for gene: AKT3 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 MIM#615937
Genetic Epilepsy v0.1707 AKT3 Zornitza Stark Publications for gene: AKT3 were set to
Genetic Epilepsy v0.1706 AKT3 Zornitza Stark Mode of pathogenicity for gene: AKT3 was changed from to Other
Genetic Epilepsy v0.1705 AKT3 Zornitza Stark Mode of inheritance for gene: AKT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1704 ADSL Zornitza Stark Marked gene: ADSL as ready
Genetic Epilepsy v0.1704 ADSL Zornitza Stark Gene: adsl has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1704 ADSL Zornitza Stark Phenotypes for gene: ADSL were changed from to Adenylosuccinase deficiency MIM#103050
Genetic Epilepsy v0.1703 ADSL Zornitza Stark Publications for gene: ADSL were set to
Genetic Epilepsy v0.1702 ADSL Zornitza Stark Mode of inheritance for gene: ADSL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1701 ADAR Zornitza Stark Marked gene: ADAR as ready
Genetic Epilepsy v0.1701 ADAR Zornitza Stark Gene: adar has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1701 ADAR Zornitza Stark Phenotypes for gene: ADAR were changed from to Aicardi-Goutieres syndrome 6, MIM# 615010; Dyschromatosis symmetrica hereditaria, MIM# 127400
Genetic Epilepsy v0.1700 ADAR Zornitza Stark Mode of inheritance for gene: ADAR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1699 FRMD5 Zornitza Stark Marked gene: FRMD5 as ready
Genetic Epilepsy v0.1699 FRMD5 Zornitza Stark Gene: frmd5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1699 FRMD5 Zornitza Stark Classified gene: FRMD5 as Green List (high evidence)
Genetic Epilepsy v0.1699 FRMD5 Zornitza Stark Gene: frmd5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1698 FRMD5 Zornitza Stark gene: FRMD5 was added
gene: FRMD5 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: FRMD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FRMD5 were set to 36206744
Phenotypes for gene: FRMD5 were set to Neurodevelopmental disorder MONDO:0700092, FRMD5-related
Review for gene: FRMD5 was set to GREEN
Added comment: Eight individuals reported with missense variants in this gene, de novo in 6 where parents were available. Clinical presentation was with ID, seizures, ataxia. Fly model.
Sources: Literature
Genetic Epilepsy v0.1697 AMPD2 Bryony Thompson Mode of inheritance for gene: AMPD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1696 AMPD2 Bryony Thompson Deleted their review
Genetic Epilepsy v0.1696 AMPD2 Bryony Thompson commented on gene: AMPD2
Genetic Epilepsy v0.1696 AMPD2 Bryony Thompson Deleted their review
Genetic Epilepsy v0.1696 ATP1A2 Bryony Thompson Deleted their review
Genetic Epilepsy v0.1696 ATP1A2 Bryony Thompson commented on gene: ATP1A2
Genetic Epilepsy v0.1696 ATP1A2 Bryony Thompson Deleted their review
Genetic Epilepsy v0.1695 ADGRL1 Zornitza Stark Phenotypes for gene: ADGRL1 were changed from Neurodevelopmental disorder, ADGRL1-related (MONDO#0700092) to Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, MIM# 620065
Genetic Epilepsy v0.1694 ADGRL1 Zornitza Stark reviewed gene: ADGRL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, MIM# 620065; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted