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Polymicrogyria and Schizencephaly v0.195 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
Polymicrogyria and Schizencephaly v0.194 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
Polymicrogyria and Schizencephaly v0.194 TCP1 Ain Roesley Marked gene: TCP1 as ready
Polymicrogyria and Schizencephaly v0.194 TCP1 Ain Roesley Gene: tcp1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.194 TCP1 Ain Roesley Classified gene: TCP1 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.194 TCP1 Ain Roesley Gene: tcp1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.193 TCP1 Ain Roesley gene: TCP1 was added
gene: TCP1 was added to Polymicrogyria and Schizencephaly. 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
Polymicrogyria and Schizencephaly v0.192 CEP83 Zornitza Stark Marked gene: CEP83 as ready
Polymicrogyria and Schizencephaly v0.192 CEP83 Zornitza Stark Gene: cep83 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.192 CEP83 Zornitza Stark gene: CEP83 was added
gene: CEP83 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP83 were set to 39219159
Phenotypes for gene: CEP83 were set to Nephronophthisis 18, MIM# 615862
Review for gene: CEP83 was set to RED
Added comment: Single individual reported with nephronophthisis and PMG and ID. Compound het variants in CEP83.
Sources: Literature
Polymicrogyria and Schizencephaly v0.191 CSMD1 Zornitza Stark Marked gene: CSMD1 as ready
Polymicrogyria and Schizencephaly v0.191 CSMD1 Zornitza Stark Gene: csmd1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.191 CSMD1 Zornitza Stark Classified gene: CSMD1 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.191 CSMD1 Zornitza Stark Gene: csmd1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.190 CSMD1 Krithika Murali gene: CSMD1 was added
gene: CSMD1 was added to Polymicrogyria and Schizencephaly. 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 Autisim and ID GCEP.
Sources: Literature
Polymicrogyria and Schizencephaly v0.189 MFN2 Elena Savva Classified gene: MFN2 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.189 MFN2 Elena Savva Gene: mfn2 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.188 MFN2 Elena Savva Marked gene: MFN2 as ready
Polymicrogyria and Schizencephaly v0.188 MFN2 Elena Savva Gene: mfn2 has been removed from the panel.
Polymicrogyria and Schizencephaly v0.188 MFN2 Andrew Fennell gene: MFN2 was added
gene: MFN2 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFN2 were set to PMID: 37804319
Phenotypes for gene: MFN2 were set to Mitochondrial disease, MONDO:0044970, MFN2-related
Review for gene: MFN2 was set to AMBER
Added comment: A single report of fetus with severe antenatal encephalopathy with lissencephaly, polymicrogyria, and cerebellar atrophy. The authors identified a homozygous in-frame deletion leading to exon 16 skipping and in-frame loss of 50 amino acids 13 (p.Gln574_Val624del). Functional evidence of mitochondrial dysfunction (clumping) and respiratory chain complex deficiencies.
Sources: Literature
Polymicrogyria and Schizencephaly v0.188 EOMES Zornitza Stark Phenotypes for gene: EOMES were changed from Microcephaly to Microcephaly, MONDO:0001149, EOMES-related
Polymicrogyria and Schizencephaly v0.187 EOMES Zornitza Stark edited their review of gene: EOMES: Changed phenotypes: Microcephaly, MONDO:0001149, EOMES-related
Polymicrogyria and Schizencephaly v0.187 ENO1 Zornitza Stark Phenotypes for gene: ENO1 were changed from Polymicrogyria to Polymicrogyria, MONDO:0000087, ENO1-related
Polymicrogyria and Schizencephaly v0.186 RAC1 Zornitza Stark changed review comment from: Additional individuals reported in PMID 35139179: polymicrogyria observed.
Sources: Literature; to: Additional individuals reported in PMID 35139179: polymicrogyria observed. Variants clustered between Q61 and R68 within the switch II region of RAC1, and are postulated to be activating.
Sources: Literature
Polymicrogyria and Schizencephaly v0.186 RAC1 Zornitza Stark Marked gene: RAC1 as ready
Polymicrogyria and Schizencephaly v0.186 RAC1 Zornitza Stark Gene: rac1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.186 RAC1 Zornitza Stark Classified gene: RAC1 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.186 RAC1 Zornitza Stark Gene: rac1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.185 RAC1 Zornitza Stark gene: RAC1 was added
gene: RAC1 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: RAC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAC1 were set to 35139179
Phenotypes for gene: RAC1 were set to Mental retardation, autosomal dominant 48, MIM# 617751
Review for gene: RAC1 was set to GREEN
Added comment: Additional individuals reported in PMID 35139179: polymicrogyria observed.
Sources: Literature
Polymicrogyria and Schizencephaly v0.184 Zornitza Stark HPO terms changed from to Polymicrogyria, HP:0002126;Schizencephaly, HP:0010636
List of related panels changed from to Polymicrogyria; HP:0002126;Schizencephaly; HP:0010636
Polymicrogyria and Schizencephaly v0.183 KIF26A Zornitza Stark Phenotypes for gene: KIF26A were changed from Cerebral malformation MONDO:0016054, KIF26-related to Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156
Polymicrogyria and Schizencephaly v0.182 KIF26A Zornitza Stark edited their review of gene: KIF26A: Changed phenotypes: Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156
Polymicrogyria and Schizencephaly v0.182 KIF26A Zornitza Stark Marked gene: KIF26A as ready
Polymicrogyria and Schizencephaly v0.182 KIF26A Zornitza Stark Gene: kif26a has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.182 KIF26A Zornitza Stark Phenotypes for gene: KIF26A were changed from Congenital brain malformations, no OMIM # to Cerebral malformation MONDO:0016054, KIF26-related
Polymicrogyria and Schizencephaly v0.181 KIF26A Zornitza Stark reviewed gene: KIF26A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral malformation MONDO:0016054, KIF26-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.181 KIF26A Chirag Patel Classified gene: KIF26A as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.181 KIF26A Chirag Patel Gene: kif26a has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.180 KIF26A Chirag Patel gene: KIF26A was added
gene: KIF26A was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: KIF26A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF26A were set to PMID: 36228617
Phenotypes for gene: KIF26A were set to Congenital brain malformations, no OMIM #
Review for gene: KIF26A was set to GREEN
Added comment: 5 unrelated patients with biallelic loss-of-function variants in KIF26A (found through WES), exhibiting a spectrum of congenital brain malformations (schizencephaly, corpus callosum anomalies, polymicrgyria, and ventriculomegaly). Combining mice and human iPSC-derived organoid models, they discovered that loss of KIF26A causes excitatory neuron-specific defects in radial migration, localization, dendritic and axonal growth, and apoptosis, offering a convincing explanation of the disease etiology in patients. Single-cell RNA sequencing in KIF26A knockout organoids revealed transcriptional changes in MAPK, MYC, and E2F pathways.
Sources: Literature
Polymicrogyria and Schizencephaly v0.179 DEPDC5 Zornitza Stark Marked gene: DEPDC5 as ready
Polymicrogyria and Schizencephaly v0.179 DEPDC5 Zornitza Stark Gene: depdc5 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.179 DEPDC5 Zornitza Stark Classified gene: DEPDC5 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.179 DEPDC5 Zornitza Stark Gene: depdc5 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.178 DEPDC5 Dean Phelan gene: DEPDC5 was added
gene: DEPDC5 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: DEPDC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DEPDC5 were set to PMID: 36067010; 32848577
Phenotypes for gene: DEPDC5 were set to Neurodevelopmental disorder, DEPDC5-related, MONDO:0700092
Mode of pathogenicity for gene: DEPDC5 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: DEPDC5 was set to GREEN
Added comment: PMID: 36067010 - Homozygous missense variants were identified in five families (3x Irish Traveller families with same variant; and 1x Tunisian and 1x Lebanese families with the same variant; ie. 2 different variants only) in 9 children with consistent phenotypic features including extensive bilateral polymicrogyria, congenital macrocephaly, early onset refractory epilepsy and severe developmental delay. Skin biopsy immunohistochemistry suggested hyperactivation of the mTOR pathway. Disease mechanism is LOF as DEPDC5 is a repressor/inhibitor within the mTOR pathway.

PMID: 32848577 - A different homozygous missense variant was identified in a child with focal cortical dysplasia and childhood onset epilepsy.
Sources: Literature
Polymicrogyria and Schizencephaly v0.178 RAC3 Alison Yeung Marked gene: RAC3 as ready
Polymicrogyria and Schizencephaly v0.178 RAC3 Alison Yeung Gene: rac3 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.178 RAC3 Alison Yeung Classified gene: RAC3 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.178 RAC3 Alison Yeung Gene: rac3 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.178 RAC3 Alison Yeung Classified gene: RAC3 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.178 RAC3 Alison Yeung Gene: rac3 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.177 RAC3 Alison Yeung gene: RAC3 was added
gene: RAC3 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: RAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAC3 were set to 35851598
Phenotypes for gene: RAC3 were set to Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, MIM#618577
Review for gene: RAC3 was set to GREEN
Added comment: Polymicrogyria commonly reported in cohort of 10 patients
Sources: Literature
Polymicrogyria and Schizencephaly v0.176 COL3A1 Zornitza Stark Marked gene: COL3A1 as ready
Polymicrogyria and Schizencephaly v0.176 COL3A1 Zornitza Stark Gene: col3a1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.176 COL3A1 Zornitza Stark Classified gene: COL3A1 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.176 COL3A1 Zornitza Stark Gene: col3a1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.175 COL3A1 Krithika Murali gene: COL3A1 was added
gene: COL3A1 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: COL3A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL3A1 were set to 28742248; 19455184; 25205403
Phenotypes for gene: COL3A1 were set to Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343; Ehlers-Danlos syndrome, vascular type, MIM# 130050
Review for gene: COL3A1 was set to GREEN
Added comment: Well established phenotype with polymicrogyria with biallelic variants in COL3A1, at least 6 individuals from 5 unrelated families are described.
Sources: Literature
Polymicrogyria and Schizencephaly v0.175 LAMC3 Zornitza Stark Marked gene: LAMC3 as ready
Polymicrogyria and Schizencephaly v0.175 LAMC3 Zornitza Stark Gene: lamc3 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.175 LAMC3 Zornitza Stark Phenotypes for gene: LAMC3 were changed from to Cortical malformations, occipital, MIM#614115
Polymicrogyria and Schizencephaly v0.174 LAMC3 Zornitza Stark Publications for gene: LAMC3 were set to
Polymicrogyria and Schizencephaly v0.173 LAMC3 Zornitza Stark Mode of inheritance for gene: LAMC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.172 LAMC3 Zornitza Stark reviewed gene: LAMC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21572413, 34354730; Phenotypes: Cortical malformations, occipital, MIM#614115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.172 MAN2C1 Zornitza Stark Phenotypes for gene: MAN2C1 were changed from neurodevelopmental disorder, MAN2C1-related, MONDO:0700092 to Congenital disorder of deglycosylation 2, MIM# 619775
Polymicrogyria and Schizencephaly v0.171 MAN2C1 Zornitza Stark reviewed gene: MAN2C1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of deglycosylation 2, MIM# 619775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.171 MAN2C1 Alison Yeung Classified gene: MAN2C1 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.171 MAN2C1 Alison Yeung Gene: man2c1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.171 MAN2C1 Alison Yeung Classified gene: MAN2C1 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.171 MAN2C1 Alison Yeung Gene: man2c1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.172 MAN2C1 Alison Yeung Phenotypes for gene: MAN2C1 were changed from neurodevelopmental disorder, MAN2C1-related, MONDO:0700092 to neurodevelopmental disorder, MAN2C1-related, MONDO:0700092
Polymicrogyria and Schizencephaly v0.171 MAN2C1 Alison Yeung Marked gene: MAN2C1 as ready
Polymicrogyria and Schizencephaly v0.171 MAN2C1 Alison Yeung Gene: man2c1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.171 MAN2C1 Alison Yeung Classified gene: MAN2C1 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.171 MAN2C1 Alison Yeung Gene: man2c1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.171 MAN2C1 Alison Yeung Phenotypes for gene: MAN2C1 were changed from neurodevelopmental disorder MONDO:0700092 MAN2C1-related to neurodevelopmental disorder, MAN2C1-related, MONDO:0700092
Polymicrogyria and Schizencephaly v0.171 MAN2C1 Alison Yeung Classified gene: MAN2C1 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.171 MAN2C1 Alison Yeung Gene: man2c1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.170 MAN2C1 Michelle Torres gene: MAN2C1 was added
gene: MAN2C1 was added to Polymicrogyria and Schizencephaly. Sources: Literature,Research
Mode of inheritance for gene: MAN2C1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2C1 were set to 35045343
Phenotypes for gene: MAN2C1 were set to neurodevelopmental disorder MONDO:0700092 MAN2C1-related
Review for gene: MAN2C1 was set to GREEN
Added comment: Six individuals from four different families, including two fetuses, exhibiting dysmorphic facial features, congenital anomalies such as tongue hamartoma, variable degrees of intellectual disability, and brain anomalies including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis. Variants include PTC and missense.
*3 unrelated individuals presented polymicrogyria
Sources: Literature, Research
Polymicrogyria and Schizencephaly v0.170 HSD17B4 Zornitza Stark Marked gene: HSD17B4 as ready
Polymicrogyria and Schizencephaly v0.170 HSD17B4 Zornitza Stark Gene: hsd17b4 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.170 HSD17B4 Zornitza Stark Phenotypes for gene: HSD17B4 were changed from D-bifunctional protein deficiency - #261515; Perrault syndrome 1 - #233400 to D-bifunctional protein deficiency - MIM#261515
Polymicrogyria and Schizencephaly v0.169 HSD17B4 Zornitza Stark Classified gene: HSD17B4 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.169 HSD17B4 Zornitza Stark Gene: hsd17b4 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.168 HSD17B4 Krithika Murali changed review comment from: Associated with DBP deficiency - severe phenotype characterized by infantile-onset of hypotonia, seizures, dysmorphic features and most die before age 2 years. Less severe presentations have been termed type IV deficiency or Perrault syndrome.

Polymicrogyria has been reported with DBP deficiency (PMID 32904102 and 2921319)

Sources: Literature; to: Associated with DBP deficiency - severe phenotype characterized by infantile-onset of hypotonia, seizures, dysmorphic features and most die before age 2 years. Less severe presentations have been termed type IV deficiency or Perrault syndrome.

Polymicrogyria has been reported with DBP deficiency (PMID 32904102 and 2921319)

Sources: Literature
Polymicrogyria and Schizencephaly v0.168 HSD17B4 Krithika Murali changed review comment from: Associated with DBP deficiency - severe phenotype characterized by infantile-onset of hypotonia, seizures, dysmorphic features and most die before age 2 years. Less severe presentations have been termed type IV deficiency or Perrault syndrome.

Polymicrogyria has been reported with DBP deficiency (PMID 32904102)
Sources: Literature; to: Associated with DBP deficiency - severe phenotype characterized by infantile-onset of hypotonia, seizures, dysmorphic features and most die before age 2 years. Less severe presentations have been termed type IV deficiency or Perrault syndrome.

Polymicrogyria has been reported with DBP deficiency (PMID 32904102 and 2921319)

Sources: Literature
Polymicrogyria and Schizencephaly v0.168 HSD17B4 Krithika Murali gene: HSD17B4 was added
gene: HSD17B4 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSD17B4 were set to 27790638; 32904102
Phenotypes for gene: HSD17B4 were set to D-bifunctional protein deficiency - #261515; Perrault syndrome 1 - #233400
Review for gene: HSD17B4 was set to GREEN
Added comment: Associated with DBP deficiency - severe phenotype characterized by infantile-onset of hypotonia, seizures, dysmorphic features and most die before age 2 years. Less severe presentations have been termed type IV deficiency or Perrault syndrome.

Polymicrogyria has been reported with DBP deficiency (PMID 32904102)
Sources: Literature
Polymicrogyria and Schizencephaly v0.168 PI4KA Zornitza Stark Publications for gene: PI4KA were set to 25855803
Polymicrogyria and Schizencephaly v0.167 PI4KA Paul De Fazio reviewed gene: PI4KA: Rating: AMBER; Mode of pathogenicity: None; Publications: 34415322; Phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Polymicrogyria and Schizencephaly v0.167 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy, polymicrogyria to Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy 98 , MIM#619605
Polymicrogyria and Schizencephaly v0.166 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Changed phenotypes: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602, Developmental and epileptic encephalopathy 98, MIM# 619605
Polymicrogyria and Schizencephaly v0.166 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from Hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations; Developmental and epileptic encephalopathy, polymicrogyria to Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy, polymicrogyria
Polymicrogyria and Schizencephaly v0.165 ATP1A2 Zornitza Stark Publications for gene: ATP1A2 were set to 31608932
Polymicrogyria and Schizencephaly v0.164 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Changed phenotypes: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602, Developmental and epileptic encephalopathy, polymicrogyria
Polymicrogyria and Schizencephaly v0.164 ADGRG1 Zornitza Stark Tag 5'UTR tag was added to gene: ADGRG1.
Polymicrogyria and Schizencephaly v0.164 ADGRG1 Zornitza Stark changed review comment from: 12 families reported in the original paper.; to: 12 families reported in the original paper.

Note promoter deletion is common.
Polymicrogyria and Schizencephaly v0.164 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations to Hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations; Developmental and epileptic encephalopathy, polymicrogyria
Polymicrogyria and Schizencephaly v0.163 ATP1A2 Zornitza Stark Mode of inheritance for gene: ATP1A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.162 ATP1A2 Zornitza Stark changed review comment from: Three individuals from two unrelated families reported with balleliic LoF variants in this gene and hydrops/congenital abnormalities. Mouse model is perinatal lethal. This is a distinct phenotype from the mono allelic variants associated with alternating hemiplegia.; to: Three individuals from two unrelated families reported with balleliic LoF variants in this gene and hydrops/congenital abnormalities. Mouse model is perinatal lethal. This is a distinct phenotype from the mono allelic variants associated with alternating hemiplegia.

33880529: six individuals with de novo missense variants reported and DD/EE/PMG.
Polymicrogyria and Schizencephaly v0.162 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Changed publications: 31608932, 33880529; Changed phenotypes: Hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations, Developmental and epileptic encephalopathy, polymicrogyria; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.162 ATP1A3 Zornitza Stark Publications for gene: ATP1A3 were set to PMID: 33762331
Polymicrogyria and Schizencephaly v0.161 ATP1A3 Zornitza Stark changed review comment from: Eight individuals with de novo variants reported.; to: Eight individuals with de novo variants reported.

PMID 33880529: further 16 individuals reported.
Polymicrogyria and Schizencephaly v0.161 ATP1A3 Zornitza Stark edited their review of gene: ATP1A3: Changed publications: 33762331, 33880529; Changed phenotypes: Polymicrogyria, epilepsy, developmental delay, epileptic encephalopathy
Polymicrogyria and Schizencephaly v0.161 WDR62 Zornitza Stark Marked gene: WDR62 as ready
Polymicrogyria and Schizencephaly v0.161 WDR62 Zornitza Stark Gene: wdr62 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.161 WDR62 Zornitza Stark Phenotypes for gene: WDR62 were changed from to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317; MONDO:0011435
Polymicrogyria and Schizencephaly v0.160 WDR62 Zornitza Stark Publications for gene: WDR62 were set to
Polymicrogyria and Schizencephaly v0.159 WDR62 Zornitza Stark Mode of inheritance for gene: WDR62 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.158 WDR62 Zornitza Stark reviewed gene: WDR62: Rating: GREEN; Mode of pathogenicity: None; Publications: 20890279, 20729831, 20890278, 21496009, 21834044, 22775483, 32677750, 31788460; Phenotypes: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317, MONDO:0011435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.158 ATP1A3 Zornitza Stark Classified gene: ATP1A3 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.158 ATP1A3 Zornitza Stark Gene: atp1a3 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.157 ATP1A3 Zornitza Stark Marked gene: ATP1A3 as ready
Polymicrogyria and Schizencephaly v0.157 ATP1A3 Zornitza Stark Gene: atp1a3 has been removed from the panel.
Polymicrogyria and Schizencephaly v0.157 ATP1A3 Zornitza Stark reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33762331; Phenotypes: Polymicrogyria, epilepsy, developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.157 ATP1A3 Chloe Stutterd gene: ATP1A3 was added
gene: ATP1A3 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A3 were set to PMID: 33762331
Phenotypes for gene: ATP1A3 were set to Polymicrogyria; epilepsy; developmental delay
Review for gene: ATP1A3 was set to GREEN
Added comment: Sources: Literature
Polymicrogyria and Schizencephaly v0.157 ENO1 Zornitza Stark Marked gene: ENO1 as ready
Polymicrogyria and Schizencephaly v0.157 ENO1 Zornitza Stark Gene: eno1 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.157 ENO1 Zornitza Stark Classified gene: ENO1 as Red List (low evidence)
Polymicrogyria and Schizencephaly v0.157 ENO1 Zornitza Stark Gene: eno1 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.156 ENO1 Kristin Rigbye gene: ENO1 was added
gene: ENO1 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: ENO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ENO1 were set to 32488097
Phenotypes for gene: ENO1 were set to Polymicrogyria
Review for gene: ENO1 was set to RED
Added comment: ENO1 identified as a polymicrogyria candidate gene from the smallest case of 1p36 duplication reported to date, in a 35yo F (onset at 8mo) presenting intellectual disability, microcephaly, epilepsy and perisylvian polymicrogyria. The duplication only encompassed 2 genes, ENO1 and RERE, and gene expression analysis performed using the patient cells revealed reduced expression, mimicking haploinsufficiency. Eno1 inactivation in rats was shown to cause a brain development defect. According to OMIM, ENO1 is deleted in glioblastoma, which is tolerated by the expression of ENO2.
Sources: Literature
Polymicrogyria and Schizencephaly v0.156 SHMT2 Zornitza Stark Phenotypes for gene: SHMT2 were changed from Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121; Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly
Polymicrogyria and Schizencephaly v0.155 SHMT2 Zornitza Stark edited their review of gene: SHMT2: Changed phenotypes: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121, Congenital microcephaly, Infantile axial hypotonia, Spastic paraparesis, Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Abnormal cortical gyration, Hypertrophic cardiomyopathy, Abnormality of the face, Proximal placement of thumb, 2-3 toe syndactyly
Polymicrogyria and Schizencephaly v0.155 Zornitza Stark Panel types changed to Australian Genomics; Victorian Clinical Genetics Services; Rare Disease
Polymicrogyria and Schizencephaly v0.154 SHMT2 Zornitza Stark Marked gene: SHMT2 as ready
Polymicrogyria and Schizencephaly v0.154 SHMT2 Zornitza Stark Gene: shmt2 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.154 SHMT2 Zornitza Stark Classified gene: SHMT2 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.154 SHMT2 Zornitza Stark Gene: shmt2 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.153 SHMT2 Zornitza Stark gene: SHMT2 was added
gene: SHMT2 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: SHMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SHMT2 were set to 33015733
Phenotypes for gene: SHMT2 were set to Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly
Review for gene: SHMT2 was set to GREEN
Added comment: García‑Cazorla et al. (2020 - PMID: 33015733) report 5 individuals (from 4 families) with a novel brain and heart developmental syndrome caused by biallelic SHMT2 pathogenic variants.

All affected subjects presented similar phenotype incl. microcephaly at birth (5/5 with OFC < -2 SD though in 2/5 cases N OFC was observed later), DD and ID (1/5 mild-moderate, 1/5 moderate, 3/5 severe), motor dysfunction in the form of spastic (5/5) paraparesis, ataxia/dysmetria (3/4), intention tremor (in 3/?) and/or peripheral neuropathy (2 sibs). They exhibited corpus callosum hypoplasia (5/5) and perisylvian microgyria-like pattern (4/5). Cardiac problems were reported in all, with hypertrophic cardiomyopathy in 4/5 (from 3 families) and atrial-SD in the 5th individual (1/5). Common dysmorphic features incl. long palpebral/fissures, eversion of lateral third of lower eylids, arched eyebrows, long eyelashes, thin upper lip, short Vth finger, fetal pads, mild 2-3 toe syndactyly, proximally placed thumbs.

Biallelic variants were identified following exome sequencing in all (other investigations not mentioned). Identified variants were in all cases missense SNVs or in-frame del, which together with evidence from population databases and mouse model might suggest a hypomorphic effect of variants and intolerance/embryonic lethality for homozygous LoF ones.

SHMT2 encodes the mitohondrial form of serine hydroxymethyltransferase. The enzyme transfers one-carbon units from serine to tetrahydrofolate (THF) and generates glycine and 5,10,methylene-THF.

Mitochondrial defect was suggested by presence of ragged red fibers in myocardial biopsy of one patient. Quadriceps and myocardial biopsies of the same individual were overall suggestive of myopathic changes.

While plasma metabolites were within N range and SHMT2 protein levels not significantly altered in patient fibroblasts, the authors provide evidence for impaired enzymatic function eg. presence of the SHMT2 substrate (THF) in patient but not control (mitochondria-enriched) fibroblasts , decrease in glycine/serine ratios, impared folate metabolism. Patient fibroblasts displayed impaired oxidative capacity (reduced ATP levels in a medium without glucose, diminished oxygen consumption rates). Mitochondrial membrane potential and ROS levels were also suggestive of redox malfunction.

Shmt2 ko in mice was previously shown to be embryonically lethal attributed to severe mitochondrial respiration defects, although there was no observed brain metabolic defect.

The authors performed Shmt2 knockdown in motoneurons in Drosophila, demonstrating neuromuscular junction (# of satellite boutons) and motility defects (climbing distance/velocity).
Sources: Literature
Polymicrogyria and Schizencephaly v0.152 MAST1 Zornitza Stark Marked gene: MAST1 as ready
Polymicrogyria and Schizencephaly v0.152 MAST1 Zornitza Stark Gene: mast1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.152 MAST1 Zornitza Stark Phenotypes for gene: MAST1 were changed from OMIM#618273 to Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, MIM# 618273
Polymicrogyria and Schizencephaly v0.151 MAST1 Zornitza Stark Classified gene: MAST1 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.151 MAST1 Zornitza Stark Gene: mast1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.150 MAST1 Zornitza Stark reviewed gene: MAST1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, MIM# 618273; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.150 PTEN Zornitza Stark changed review comment from: More than 10 individuals reported.; to: More than 10 individuals reported with PMG.
Polymicrogyria and Schizencephaly v0.150 PTEN Zornitza Stark Marked gene: PTEN as ready
Polymicrogyria and Schizencephaly v0.150 PTEN Zornitza Stark Gene: pten has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.150 PTEN Zornitza Stark Phenotypes for gene: PTEN were changed from OMIM#605309 to Macrocephaly/autism syndrome, MIM# 605309
Polymicrogyria and Schizencephaly v0.149 PTEN Zornitza Stark Classified gene: PTEN as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.149 PTEN Zornitza Stark Gene: pten has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.148 PTEN Zornitza Stark reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: 32959437; Phenotypes: Macrocephaly/autism syndrome, MIM# 605309; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.148 MED25 Zornitza Stark Marked gene: MED25 as ready
Polymicrogyria and Schizencephaly v0.148 MED25 Zornitza Stark Gene: med25 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.148 MED25 Zornitza Stark Phenotypes for gene: MED25 were changed from OMIM#616449 to Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449
Polymicrogyria and Schizencephaly v0.147 MED25 Zornitza Stark Classified gene: MED25 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.147 MED25 Zornitza Stark Gene: med25 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.146 MED25 Zornitza Stark reviewed gene: MED25: Rating: AMBER; Mode of pathogenicity: None; Publications: 32816121; Phenotypes: Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.146 MAST1 Chloe Stutterd gene: MAST1 was added
gene: MAST1 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAST1 were set to 32818970; 30449657
Phenotypes for gene: MAST1 were set to OMIM#618273
Review for gene: MAST1 was set to GREEN
Added comment: Tripathy et al. (PMID:30449657) describe cortical malformation as dysgyria but images consistent with PMG.
Sources: Literature
Polymicrogyria and Schizencephaly v0.146 PTEN Chloe Stutterd gene: PTEN was added
gene: PTEN was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTEN were set to 32959437
Phenotypes for gene: PTEN were set to OMIM#605309
Review for gene: PTEN was set to GREEN
Added comment: Sources: Literature
Polymicrogyria and Schizencephaly v0.146 MED25 Chloe Stutterd gene: MED25 was added
gene: MED25 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED25 were set to 32324310; 32816121
Phenotypes for gene: MED25 were set to OMIM#616449
Review for gene: MED25 was set to AMBER
Added comment: Sources: Literature
Polymicrogyria and Schizencephaly v0.146 NEDD4L Zornitza Stark Classified gene: NEDD4L as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.146 NEDD4L Zornitza Stark Gene: nedd4l has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.145 NEDD4L Zornitza Stark Marked gene: NEDD4L as ready
Polymicrogyria and Schizencephaly v0.145 NEDD4L Zornitza Stark Gene: nedd4l has been removed from the panel.
Polymicrogyria and Schizencephaly v0.145 NEDD4L Zornitza Stark Phenotypes for gene: NEDD4L were changed from Periventricular nodular heterotopia; polymicrogyria; syndactyly to Periventricular nodular heterotopia 7, MIM# 617201; polymicrogyria; syndactyly
Polymicrogyria and Schizencephaly v0.144 COL4A2 Zornitza Stark Marked gene: COL4A2 as ready
Polymicrogyria and Schizencephaly v0.144 COL4A2 Zornitza Stark Gene: col4a2 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.144 COL4A2 Zornitza Stark Phenotypes for gene: COL4A2 were changed from 614483 to Brain small vessel disease 2, MIM#614483
Polymicrogyria and Schizencephaly v0.143 COL4A2 Zornitza Stark Classified gene: COL4A2 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.143 COL4A2 Zornitza Stark Gene: col4a2 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.142 COL4A2 Chloe Stutterd gene: COL4A2 was added
gene: COL4A2 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL4A2 were set to 30315939
Phenotypes for gene: COL4A2 were set to 614483
Review for gene: COL4A2 was set to AMBER
Added comment: Two unrelated individuals reported with PMG.
Third unrelated family identified in MCRI study not yet published
Sources: Literature
Polymicrogyria and Schizencephaly v0.142 NEDD4L Chloe Stutterd gene: NEDD4L was added
gene: NEDD4L was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: NEDD4L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NEDD4L were set to 27694961; 28515470; 30393983
Phenotypes for gene: NEDD4L were set to Periventricular nodular heterotopia; polymicrogyria; syndactyly
Review for gene: NEDD4L was set to GREEN
Added comment: Sources: Literature
Polymicrogyria and Schizencephaly v0.142 KIF5C Zornitza Stark Marked gene: KIF5C as ready
Polymicrogyria and Schizencephaly v0.142 KIF5C Zornitza Stark Gene: kif5c has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.142 KIF5C Zornitza Stark Phenotypes for gene: KIF5C were changed from to Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282
Polymicrogyria and Schizencephaly v0.141 KIF5C Zornitza Stark Publications for gene: KIF5C were set to
Polymicrogyria and Schizencephaly v0.140 KIF5C Zornitza Stark Mode of inheritance for gene: KIF5C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.139 KIF5C Zornitza Stark reviewed gene: KIF5C: Rating: GREEN; Mode of pathogenicity: None; Publications: 23603762, 23033978, 32562872; Phenotypes: Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.139 GRIN2B Zornitza Stark Phenotypes for gene: GRIN2B were changed from GRIN2B-related neurodevelopmental disorder to GRIN2B-related neurodevelopmental disorder; Mental retardation, autosomal dominant 6, MIM# 613970
Polymicrogyria and Schizencephaly v0.138 GRIN2B Zornitza Stark reviewed gene: GRIN2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 6, MIM# 613970; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.138 GRIN1 Zornitza Stark Marked gene: GRIN1 as ready
Polymicrogyria and Schizencephaly v0.138 GRIN1 Zornitza Stark Added comment: Comment when marking as ready: All variants occurred between residues 559 and 828, and there may be an association between variant location and PMG.
Polymicrogyria and Schizencephaly v0.138 GRIN1 Zornitza Stark Gene: grin1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.138 GRIN1 Zornitza Stark Phenotypes for gene: GRIN1 were changed from GRIN1-related neurodevelopmental disorder to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254
Polymicrogyria and Schizencephaly v0.137 L1CAM Zornitza Stark Marked gene: L1CAM as ready
Polymicrogyria and Schizencephaly v0.137 L1CAM Zornitza Stark Gene: l1cam has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.137 L1CAM Zornitza Stark Phenotypes for gene: L1CAM were changed from to L1CAM-related disease
Polymicrogyria and Schizencephaly v0.136 L1CAM Zornitza Stark Publications for gene: L1CAM were set to
Polymicrogyria and Schizencephaly v0.135 L1CAM Zornitza Stark Mode of inheritance for gene: L1CAM was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Polymicrogyria and Schizencephaly v0.134 L1CAM Zornitza Stark Classified gene: L1CAM as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.134 L1CAM Zornitza Stark Gene: l1cam has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.133 RAB3GAP2 Zornitza Stark Marked gene: RAB3GAP2 as ready
Polymicrogyria and Schizencephaly v0.133 RAB3GAP2 Zornitza Stark Gene: rab3gap2 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.133 RAB3GAP2 Zornitza Stark Phenotypes for gene: RAB3GAP2 were changed from to Warburg micro syndrome 2 614225
Polymicrogyria and Schizencephaly v0.132 RAB3GAP2 Zornitza Stark Publications for gene: RAB3GAP2 were set to
Polymicrogyria and Schizencephaly v0.131 RAB3GAP2 Zornitza Stark Mode of inheritance for gene: RAB3GAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.130 TUBA8 Zornitza Stark Marked gene: TUBA8 as ready
Polymicrogyria and Schizencephaly v0.130 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.130 PEX16 Zornitza Stark Marked gene: PEX16 as ready
Polymicrogyria and Schizencephaly v0.130 PEX16 Zornitza Stark Gene: pex16 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.130 PEX16 Zornitza Stark Classified gene: PEX16 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.130 PEX16 Zornitza Stark Gene: pex16 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.129 PEX14 Zornitza Stark Marked gene: PEX14 as ready
Polymicrogyria and Schizencephaly v0.129 PEX14 Zornitza Stark Gene: pex14 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.129 PEX14 Zornitza Stark Classified gene: PEX14 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.129 PEX14 Zornitza Stark Gene: pex14 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.128 PEX13 Zornitza Stark Marked gene: PEX13 as ready
Polymicrogyria and Schizencephaly v0.128 PEX13 Zornitza Stark Gene: pex13 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.128 PEX13 Zornitza Stark Classified gene: PEX13 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.128 PEX13 Zornitza Stark Gene: pex13 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.127 PEX12 Zornitza Stark Marked gene: PEX12 as ready
Polymicrogyria and Schizencephaly v0.127 PEX12 Zornitza Stark Gene: pex12 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.127 PEX12 Zornitza Stark Classified gene: PEX12 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.127 PEX12 Zornitza Stark Gene: pex12 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.126 PEX19 Zornitza Stark Marked gene: PEX19 as ready
Polymicrogyria and Schizencephaly v0.126 PEX19 Zornitza Stark Gene: pex19 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.126 PEX19 Zornitza Stark Classified gene: PEX19 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.126 PEX19 Zornitza Stark Gene: pex19 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.125 PEX13 Ain Roesley gene: PEX13 was added
gene: PEX13 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX13 were set to 21031596; 19449432
Phenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11A (Zellweger) (MIM#614883)
Penetrance for gene: PEX13 were set to unknown
Review for gene: PEX13 was set to AMBER
Added comment: Accounts for ~1.5% of Zellweger Spectrum Disorder (ZSD) (GeneReviews), for which Polymicrogyria is a feature

PMID: 19449432;
- 1x ZSD proband with PMG
Sources: Literature
Polymicrogyria and Schizencephaly v0.125 PEX14 Paul De Fazio gene: PEX14 was added
gene: PEX14 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX14 were set to 21031596; 18285423; 15146459; 30224891
Phenotypes for gene: PEX14 were set to Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876
Review for gene: PEX14 was set to AMBER
gene: PEX14 was marked as current diagnostic
Added comment: Accounts for ~0.5% of Zellweger Spectrum Disorder (GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1448/). At least 3 independent patients have been reported with a homozygous nonsense variant, a rare missense variant, and a whole-exon deletion (PMID: 18285423, 15146459, 30224891) so gene-disease association is established.

Reports of patients with polymicrogyria specifically were not identified, but as Zellweger has the potential to present with polymicrogyria this gene has been rated Amber.
Sources: Literature
Polymicrogyria and Schizencephaly v0.125 PEX12 Ain Roesley gene: PEX12 was added
gene: PEX12 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX12 were set to 21031596
Phenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3A (Zellweger) (MIM#614859)
Penetrance for gene: PEX12 were set to unknown
Review for gene: PEX12 was set to AMBER
Added comment: Accounts for ~7.6% of Zellweger Spectrum Disorder (ZSD) (GeneReviews), for which Polymicrogyria is a feature
Sources: Literature
Polymicrogyria and Schizencephaly v0.125 PEX11B Zornitza Stark Marked gene: PEX11B as ready
Polymicrogyria and Schizencephaly v0.125 PEX11B Zornitza Stark Added comment: Comment when marking as ready: Aware of another family tested through our service, but agree gene-disease association limited, and no specific reports of PMG.
Polymicrogyria and Schizencephaly v0.125 PEX11B Zornitza Stark Gene: pex11b has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.125 PEX16 Paul De Fazio gene: PEX16 was added
gene: PEX16 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX16 were set to 21031596
Phenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876
Review for gene: PEX16 was set to AMBER
gene: PEX16 was marked as current diagnostic
Added comment: Accounts for ~1.1% of Zellweger Spectrum Disorder (GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1448/). Reports of patients with polymicrogyria specifically were not identified, but as Zellweger has the potential to present with polymicrogyria this gene has been rated Amber.
Sources: Literature
Polymicrogyria and Schizencephaly v0.125 PEX11B Zornitza Stark Classified gene: PEX11B as Red List (low evidence)
Polymicrogyria and Schizencephaly v0.125 PEX11B Zornitza Stark Gene: pex11b has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.124 PEX10 Zornitza Stark Marked gene: PEX10 as ready
Polymicrogyria and Schizencephaly v0.124 PEX10 Zornitza Stark Gene: pex10 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.124 PEX10 Zornitza Stark Classified gene: PEX10 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.124 PEX10 Zornitza Stark Gene: pex10 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.123 PEX2 Zornitza Stark Marked gene: PEX2 as ready
Polymicrogyria and Schizencephaly v0.123 PEX2 Zornitza Stark Gene: pex2 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.123 PEX2 Zornitza Stark Classified gene: PEX2 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.123 PEX2 Zornitza Stark Gene: pex2 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.122 PEX26 Zornitza Stark Marked gene: PEX26 as ready
Polymicrogyria and Schizencephaly v0.122 PEX26 Zornitza Stark Gene: pex26 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.122 PEX26 Zornitza Stark Classified gene: PEX26 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.122 PEX26 Zornitza Stark Gene: pex26 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.121 PEX19 Paul De Fazio gene: PEX19 was added
gene: PEX19 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX19 were set to 21031596
Phenotypes for gene: PEX19 were set to Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886
Review for gene: PEX19 was set to AMBER
gene: PEX19 was marked as current diagnostic
Added comment: Accounts for ~0.6% of Zellweger Spectrum Disorder (GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1448/). Reports of patients with polymicrogyria specifically were not identified, but as Zellweger has the potential to present with polymicrogyria this gene has been rated Amber.
Sources: Literature
Polymicrogyria and Schizencephaly v0.121 PEX3 Zornitza Stark Marked gene: PEX3 as ready
Polymicrogyria and Schizencephaly v0.121 PEX3 Zornitza Stark Gene: pex3 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.121 PEX3 Zornitza Stark Classified gene: PEX3 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.121 PEX3 Zornitza Stark Gene: pex3 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.120 PEX11B Ain Roesley gene: PEX11B was added
gene: PEX11B was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX11B were set to 22581968
Phenotypes for gene: PEX11B were set to ?Peroxisome biogenesis disorder 14B (MIM#614920)
Penetrance for gene: PEX11B were set to unknown
Review for gene: PEX11B was set to RED
Added comment: Accounts for ~0.1% of Zellweger Spectrum Disorder (ZSD) (GeneReviews), for which Polymicrogyria is a feature

PMID: 22581968;
Sinlge patient reported
Sources: Literature
Polymicrogyria and Schizencephaly v0.120 PEX10 Ain Roesley gene: PEX10 was added
gene: PEX10 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX10 were set to 21031596
Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger) (MIM#614870)
Penetrance for gene: PEX10 were set to unknown
Review for gene: PEX10 was set to AMBER
Added comment: Accounts for ~3.4% of Zellweger Spectrum Disorder (ZSD) (GeneReviews), for which Polymicrogyria is a feature
Sources: Literature
Polymicrogyria and Schizencephaly v0.120 PEX2 Paul De Fazio gene: PEX2 was added
gene: PEX2 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX2 were set to 21031596
Phenotypes for gene: PEX2 were set to Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866
Review for gene: PEX2 was set to AMBER
gene: PEX2 was marked as current diagnostic
Added comment: Accounts for ~3.1% of Zellweger Spectrum Disorder (GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1448/). Reports of patients with polymicrogyria specifically were not identified, but as Zellweger has the potential to present with polymicrogyria this gene has been rated Amber.
Sources: Literature
Polymicrogyria and Schizencephaly v0.120 PEX26 Paul De Fazio gene: PEX26 was added
gene: PEX26 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX26 were set to 21031596
Phenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872
Review for gene: PEX26 was set to AMBER
gene: PEX26 was marked as current diagnostic
Added comment: Accounts for ~4.2% of Zellweger Spectrum Disorder (GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1448/). Reports of patients with polymicrogyria specifically were not identified, but as Zellweger has the potential to present with polymicrogyria this gene has been rated Amber.
Sources: Literature
Polymicrogyria and Schizencephaly v0.120 PEX3 Paul De Fazio edited their review of gene: PEX3: Changed rating: AMBER; Changed phenotypes: Peroxisome biogenesis disorder 10A (Zellweger) 614882
Polymicrogyria and Schizencephaly v0.120 PEX3 Paul De Fazio gene: PEX3 was added
gene: PEX3 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX3 were set to 21031596
Phenotypes for gene: PEX3 were set to Peroxisome biogenesis disorder 10A (Zellweger) 614882
gene: PEX3 was marked as current diagnostic
Added comment: Accounts for ~0.7% of Zellweger Spectrum Disorder (GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1448/). Reports of patients with polymicrogyria specifically were not identified, but as Zellweger has the potential to present with polymicrogyria this gene has been rated Amber.
Sources: Literature
Polymicrogyria and Schizencephaly v0.120 PEX1 Zornitza Stark Marked gene: PEX1 as ready
Polymicrogyria and Schizencephaly v0.120 PEX1 Zornitza Stark Gene: pex1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.120 PEX1 Zornitza Stark Classified gene: PEX1 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.120 PEX1 Zornitza Stark Gene: pex1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.119 PEX5 Zornitza Stark Marked gene: PEX5 as ready
Polymicrogyria and Schizencephaly v0.119 PEX5 Zornitza Stark Gene: pex5 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.119 PEX5 Zornitza Stark Classified gene: PEX5 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.119 PEX5 Zornitza Stark Gene: pex5 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.118 PEX1 Ain Roesley gene: PEX1 was added
gene: PEX1 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX1 were set to 21031596
Phenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1A (Zellweger) (MIM#214100)
Penetrance for gene: PEX1 were set to unknown
Review for gene: PEX1 was set to GREEN
Added comment: Accounts for ~60.5% of Zellweger Spectrum Disorder (ZSD) (GeneReviews), for which Polymicrogyria is a feature
Sources: Literature
Polymicrogyria and Schizencephaly v0.118 PEX5 Paul De Fazio gene: PEX5 was added
gene: PEX5 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX5 were set to 21031596
Phenotypes for gene: PEX5 were set to Peroxisome biogenesis disorder 2A (Zellweger) (MIM#214110)
Review for gene: PEX5 was set to AMBER
gene: PEX5 was marked as current diagnostic
Added comment: Accounts for ~2% of Zellweger Spectrum Disorder (GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1448/). Reports of patients with polymicrogyria specifically were not identified, but as Zellweger has the potential to present with polymicrogyria this gene has been rated Amber.
Sources: Literature
Polymicrogyria and Schizencephaly v0.118 SHH Zornitza Stark Marked gene: SHH as ready
Polymicrogyria and Schizencephaly v0.118 SHH Zornitza Stark Gene: shh has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.118 SHH Zornitza Stark Tag disputed tag was added to gene: SHH.
Polymicrogyria and Schizencephaly v0.118 SHH Zornitza Stark Phenotypes for gene: SHH were changed from to Schizencephaly (MIM#269160)
Polymicrogyria and Schizencephaly v0.117 PEX6 Seb Lunke Marked gene: PEX6 as ready
Polymicrogyria and Schizencephaly v0.117 PEX6 Seb Lunke Gene: pex6 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.117 PEX6 Seb Lunke Classified gene: PEX6 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.117 PEX6 Seb Lunke Gene: pex6 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.116 SHH Zornitza Stark Publications for gene: SHH were set to
Polymicrogyria and Schizencephaly v0.115 SHH Zornitza Stark Mode of inheritance for gene: SHH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.114 SIX3 Seb Lunke Marked gene: SIX3 as ready
Polymicrogyria and Schizencephaly v0.114 SIX3 Seb Lunke Gene: six3 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.114 SIX3 Seb Lunke Mode of inheritance for gene: SIX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Polymicrogyria and Schizencephaly v0.113 SIX3 Seb Lunke Publications for gene: SIX3 were set to
Polymicrogyria and Schizencephaly v0.113 SHH Zornitza Stark Classified gene: SHH as Red List (low evidence)
Polymicrogyria and Schizencephaly v0.113 SHH Zornitza Stark Gene: shh has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.112 SHH Zornitza Stark Classified gene: SHH as Red List (low evidence)
Polymicrogyria and Schizencephaly v0.112 SHH Zornitza Stark Gene: shh has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.112 SIX3 Seb Lunke Classified gene: SIX3 as Red List (low evidence)
Polymicrogyria and Schizencephaly v0.112 SIX3 Seb Lunke Added comment: Comment on list classification: Missense variants too common in gnomAD. Left with one novel nonsense, insufficient evidence for association with schizencephaly at this stage.
Polymicrogyria and Schizencephaly v0.112 SIX3 Seb Lunke Gene: six3 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.111 SNAP29 Seb Lunke Marked gene: SNAP29 as ready
Polymicrogyria and Schizencephaly v0.111 SNAP29 Seb Lunke Gene: snap29 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.111 SNAP29 Seb Lunke Classified gene: SNAP29 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.111 SNAP29 Seb Lunke Gene: snap29 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.110 SRD5A3 Seb Lunke Marked gene: SRD5A3 as ready
Polymicrogyria and Schizencephaly v0.110 SRD5A3 Seb Lunke Gene: srd5a3 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.110 SRD5A3 Seb Lunke Classified gene: SRD5A3 as Red List (low evidence)
Polymicrogyria and Schizencephaly v0.110 SRD5A3 Seb Lunke Gene: srd5a3 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.109 NSDHL Zornitza Stark Marked gene: NSDHL as ready
Polymicrogyria and Schizencephaly v0.109 NSDHL Zornitza Stark Gene: nsdhl has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.109 NSDHL Zornitza Stark Phenotypes for gene: NSDHL were changed from to CK syndrome 300831
Polymicrogyria and Schizencephaly v0.108 NSDHL Zornitza Stark Publications for gene: NSDHL were set to
Polymicrogyria and Schizencephaly v0.107 DAG1 Seb Lunke Marked gene: DAG1 as ready
Polymicrogyria and Schizencephaly v0.107 DAG1 Seb Lunke Gene: dag1 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.107 NSDHL Zornitza Stark Mode of inheritance for gene: NSDHL was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Polymicrogyria and Schizencephaly v0.107 DAG1 Seb Lunke Classified gene: DAG1 as Red List (low evidence)
Polymicrogyria and Schizencephaly v0.107 DAG1 Seb Lunke Gene: dag1 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.106 NSDHL Zornitza Stark Classified gene: NSDHL as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.106 NSDHL Zornitza Stark Gene: nsdhl has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.106 DAG1 Seb Lunke Classified gene: DAG1 as Red List (low evidence)
Polymicrogyria and Schizencephaly v0.106 DAG1 Seb Lunke Gene: dag1 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.105 TMEM216 Zornitza Stark Marked gene: TMEM216 as ready
Polymicrogyria and Schizencephaly v0.105 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.105 TMEM216 Zornitza Stark Phenotypes for gene: TMEM216 were changed from Joubert syndrome 2 (MIM#608091) to Joubert syndrome 2 (MIM#608091)
Polymicrogyria and Schizencephaly v0.104 TMEM216 Zornitza Stark Publications for gene: TMEM216 were set to 20512146
Polymicrogyria and Schizencephaly v0.103 TMEM216 Zornitza Stark Mode of inheritance for gene: TMEM216 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.102 TMEM216 Zornitza Stark Classified gene: TMEM216 as Red List (low evidence)
Polymicrogyria and Schizencephaly v0.102 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.101 TMEM216 Zornitza Stark Marked gene: TMEM216 as ready
Polymicrogyria and Schizencephaly v0.101 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.101 TMEM216 Zornitza Stark Phenotypes for gene: TMEM216 were changed from to Joubert syndrome 2 (MIM#608091)
Polymicrogyria and Schizencephaly v0.100 TMEM216 Zornitza Stark Publications for gene: TMEM216 were set to
Polymicrogyria and Schizencephaly v0.99 TMEM216 Zornitza Stark Mode of inheritance for gene: TMEM216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.98 PEX6 Paul De Fazio gene: PEX6 was added
gene: PEX6 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX6 were set to 21031596; 9877282; 26700162
Phenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862)
Review for gene: PEX6 was set to GREEN
gene: PEX6 was marked as current diagnostic
Added comment: Variants in this gene account for 14.5% of Zellweger Spectrum Disorder patients according to GeneReviews (https://www.ncbi.nlm.nih.gov/books/NBK1448/). Genetic spectrum of 77 patients reviewed in PMID: 19877282.

PMID: 26700162, 22894767, and 28452594 describe three patients with polymicrogyria. Did not look further for others but they possibly exist.
Sources: Literature
Polymicrogyria and Schizencephaly v0.98 TMEM216 Zornitza Stark Classified gene: TMEM216 as Red List (low evidence)
Polymicrogyria and Schizencephaly v0.98 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.97 SHH Paul De Fazio reviewed gene: SHH: Rating: RED; Mode of pathogenicity: None; Publications: 19533790; Phenotypes: Schizencephaly (MIM#269160); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Polymicrogyria and Schizencephaly v0.97 SIX3 Paul De Fazio reviewed gene: SIX3: Rating: AMBER; Mode of pathogenicity: None; Publications: 20157829; Phenotypes: Schizencephaly (MIM#269160); Mode of inheritance: None; Current diagnostic: yes
Polymicrogyria and Schizencephaly v0.97 SNAP29 Paul De Fazio gene: SNAP29 was added
gene: SNAP29 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNAP29 were set to 29051910; 21073448; 30793783
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
gene: SNAP29 was marked as current diagnostic
Added comment: Associated with CEDNIK syndrome. Both pachygyria and polymicrogyria, and additionally dysgenesis of the corpus callosum, are reported in multiple patients from unrelated families with pathogenic variants in this gene (at least 5 patients from 3 families with both pachygyria and polymicrogyria, and at least 5 patients from 3 families with polymicrogyria alone (PMID: 29051910, 30793783)).
Sources: Literature
Polymicrogyria and Schizencephaly v0.97 SRD5A3 Paul De Fazio gene: SRD5A3 was added
gene: SRD5A3 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SRD5A3 were set to 18271001; 20637498; 31638560; 27480077
Phenotypes for gene: SRD5A3 were set to Congenital disorder of glycosylation, type Iq (MIM#612379)
Review for gene: SRD5A3 was set to RED
gene: SRD5A3 was marked as current diagnostic
Added comment: Associated with a CDG. Brain abnormalities reported include vermis hypoplasia, hypoplastic corpus callosum, cerebral atrophy. Polymicrogyria has been reported in 2 individuals from the same family in PMID: 18271001, but given that it is only this one family I have rated it red.
Sources: Literature
Polymicrogyria and Schizencephaly v0.97 DAG1 Ain Roesley gene: DAG1 was added
gene: DAG1 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAG1 were set to 24052401
Phenotypes for gene: DAG1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538)
Penetrance for gene: DAG1 were set to unknown
Review for gene: DAG1 was set to RED
Added comment: Also known as Walker-Warburg syndrome

PMID: 24052401;
- two Libyan siblings
- MRI showed thin cortical layer resembling diffuse polymicrogyria with frontal agyria
Sources: Literature
Polymicrogyria and Schizencephaly v0.97 NSDHL Belinda Chong reviewed gene: NSDHL: Rating: AMBER; Mode of pathogenicity: None; Publications: 19377476, 19842190, 21129721; Phenotypes: CK syndrome 300831; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Polymicrogyria and Schizencephaly v0.97 TMEM216 Paul De Fazio reviewed gene: TMEM216: Rating: RED; Mode of pathogenicity: None; Publications: 20512146; Phenotypes: Joubert syndrome 2 (MIM#608091); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Polymicrogyria and Schizencephaly v0.97 AKT3 Zornitza Stark Marked gene: AKT3 as ready
Polymicrogyria and Schizencephaly v0.97 AKT3 Zornitza Stark Gene: akt3 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.97 AKT3 Zornitza Stark Phenotypes for gene: AKT3 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937)
Polymicrogyria and Schizencephaly v0.96 AKT3 Zornitza Stark Publications for gene: AKT3 were set to
Polymicrogyria and Schizencephaly v0.95 AKT3 Zornitza Stark Mode of inheritance for gene: AKT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.94 SMO Zornitza Stark Marked gene: SMO as ready
Polymicrogyria and Schizencephaly v0.94 SMO Zornitza Stark Gene: smo has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.94 SMO Zornitza Stark Classified gene: SMO as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.94 SMO Zornitza Stark Gene: smo has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.93 SMO Zornitza Stark Tag somatic tag was added to gene: SMO.
Polymicrogyria and Schizencephaly v0.93 TMX2 Zornitza Stark reviewed gene: TMX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.93 TMX2 Zornitza Stark Marked gene: TMX2 as ready
Polymicrogyria and Schizencephaly v0.93 TMX2 Zornitza Stark Gene: tmx2 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.93 TMX2 Zornitza Stark Classified gene: TMX2 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.93 TMX2 Zornitza Stark Gene: tmx2 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.92 AKT3 Ain Roesley changed review comment from: PMID: 28969385;
- 15/20 patients with constitutional mutation in AKT3 presented with polymicrogyria; to: PMID: 28969385;
- 15/20 patients with constitutional mutation in AKT3 presented with polymicrogyria
- de novo and missense
Polymicrogyria and Schizencephaly v0.92 AKT3 Ain Roesley reviewed gene: AKT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28969385; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Polymicrogyria and Schizencephaly v0.92 SMO Paul De Fazio gene: SMO was added
gene: SMO was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: SMO was set to Unknown
Publications for gene: SMO were set to 27236920; 24859340
Phenotypes for gene: SMO were set to Curry-Jones syndrome, somatic mosaic MIM#601707
Mode of pathogenicity for gene: SMO 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: SMO was set to AMBER
gene: SMO was marked as current diagnostic
Added comment: PMID 27236920 summarises the clinical and molecular findings in 8 unrelated individuals (including individuals reported previously). All 8 had the same somatic mosaic missense variant c.1234C>T p.(Leu412Phe) (absent from gnomAD). 2 had polymicrogyria. Other brain abnormalities reported include agenesis of the corpus callosum, hemimegalencephaly, ventriculomegaly. 1 individual was reported to have a normal brain.

In mouse embryonic fibroblasts, this variant results in constitutive activation (PMID: 24859340).

Other, biallelic germline variants in this gene are associated with Pallister-Hall-like syndrome (MIM#241800) but the MRI findings in individuals with this syndrome don't appear to be applicable to this panel.
Sources: Literature
Polymicrogyria and Schizencephaly v0.92 TMX2 Paul De Fazio changed review comment from: PMID 31735293: 5 unrelated individuals (out of 14 total from 10 families) with biallelic variants had polymicrogyria on MRI. Other individuals had brain atrophy or pachygyria. One individual had a normal MRI.

PMID 31586943: 8 individuals from 4 families had the same homozygous missense variant (10 heterozygotes in gnomAD.). All of the individuals had lissencephaly, NOT polymycrogyria. This variant was also identified in one individual from PMID 31735293, who did have polymicrogyria.
Sources: Literature; to: Summary: 14 families reported with biallelic variants and neurodevelopmental disorder, but individuals from 5 families had polymicrogyria.

PMID 31735293: 5 unrelated individuals (out of 14 total from 10 families) with biallelic variants had polymicrogyria on MRI. Other individuals had brain atrophy or pachygyria. One individual had a normal MRI.

PMID 31586943: 8 individuals from 4 families had the same homozygous missense variant (10 heterozygotes in gnomAD.). All of the individuals had lissencephaly, NOT polymycrogyria. This variant was also identified in one individual from PMID 31735293, who did have polymicrogyria.
Sources: Literature
Polymicrogyria and Schizencephaly v0.92 TMX2 Paul De Fazio gene: TMX2 was added
gene: TMX2 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMX2 were set to 31735293; 31586943
Phenotypes for gene: TMX2 were set to Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730
Review for gene: TMX2 was set to AMBER
gene: TMX2 was marked as current diagnostic
Added comment: PMID 31735293: 5 unrelated individuals (out of 14 total from 10 families) with biallelic variants had polymicrogyria on MRI. Other individuals had brain atrophy or pachygyria. One individual had a normal MRI.

PMID 31586943: 8 individuals from 4 families had the same homozygous missense variant (10 heterozygotes in gnomAD.). All of the individuals had lissencephaly, NOT polymycrogyria. This variant was also identified in one individual from PMID 31735293, who did have polymicrogyria.
Sources: Literature
Polymicrogyria and Schizencephaly v0.92 SCN3A Zornitza Stark Publications for gene: SCN3A were set to 30146301
Polymicrogyria and Schizencephaly v0.91 SCN3A Zornitza Stark Deleted their comment
Polymicrogyria and Schizencephaly v0.91 SCN3A Zornitza Stark edited their review of gene: SCN3A: Added comment: Six unrelated families reported with prominent speech and oral motor dysfunction but no epilepsy, some multiplex in PMID: 30146301. Additionally malformations of cortical development reported in ~75% of a cohort of 22 individuals with a broader neurodevelomental phenotype, including epilepsy, PMID: 32515017; Changed rating: GREEN; Changed publications: 32515017, 30146301; Changed phenotypes: Polymicrogyria, malformations of cortical development, epilepsy; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.91 SCN3A Zornitza Stark Marked gene: SCN3A as ready
Polymicrogyria and Schizencephaly v0.91 SCN3A Zornitza Stark Added comment: Comment when marking as ready: Six unrelated families reported, some multiplex.
Polymicrogyria and Schizencephaly v0.91 SCN3A Zornitza Stark Gene: scn3a has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.91 SCN3A Zornitza Stark Classified gene: SCN3A as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.91 SCN3A Zornitza Stark Gene: scn3a has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.90 SCN3A Chloe Stutterd edited their review of gene: SCN3A: Changed publications: 30146301, 29740860
Polymicrogyria and Schizencephaly v0.90 SCN3A Chloe Stutterd gene: SCN3A was added
gene: SCN3A was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: SCN3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN3A were set to 30146301
Phenotypes for gene: SCN3A were set to Polymicrogyria; epileptic encephalopathy
Review for gene: SCN3A was set to GREEN
gene: SCN3A was marked as current diagnostic
Added comment: Sources: Literature
Polymicrogyria and Schizencephaly v0.90 MCF2 Zornitza Stark Marked gene: MCF2 as ready
Polymicrogyria and Schizencephaly v0.90 MCF2 Zornitza Stark Gene: mcf2 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.90 MCF2 Zornitza Stark gene: MCF2 was added
gene: MCF2 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: MCF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MCF2 were set to 31846234
Phenotypes for gene: MCF2 were set to Perisylvian polymicrogyria
Review for gene: MCF2 was set to RED
Added comment: Single individual reported, inherited missense variant from unaffected mother, some support from mouse model.
Sources: Literature
Polymicrogyria and Schizencephaly v0.89 MAP1B Zornitza Stark Phenotypes for gene: MAP1B were changed from Intellectual disability; seizures; PVNH; dysmorphic features to Intellectual disability; seizures; PVNH; dysmorphic features; Periventricular nodular heterotopia 9, MIM# 618918
Polymicrogyria and Schizencephaly v0.88 MAP1B Zornitza Stark edited their review of gene: MAP1B: Changed phenotypes: Intellectual disability, seizures, PVNH, dysmorphic features, Periventricular nodular heterotopia 9, MIM# 618918
Polymicrogyria and Schizencephaly v0.88 KIF1BP Zornitza Stark Marked gene: KIF1BP as ready
Polymicrogyria and Schizencephaly v0.88 KIF1BP Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name is KIFBP.
Polymicrogyria and Schizencephaly v0.88 KIF1BP Zornitza Stark Gene: kif1bp has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.88 KIF1BP Zornitza Stark Phenotypes for gene: KIF1BP were changed from Goldberg-Shprintzen megacolon syndrome MIM#609460 to Goldberg-Shprintzen megacolon syndrome MIM#609460
Polymicrogyria and Schizencephaly v0.87 KIF1BP Zornitza Stark Phenotypes for gene: KIF1BP were changed from to Goldberg-Shprintzen megacolon syndrome MIM#609460
Polymicrogyria and Schizencephaly v0.86 KIF1BP Zornitza Stark Mode of inheritance for gene: KIF1BP was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.86 KIF1BP Zornitza Stark Mode of inheritance for gene: KIF1BP was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.85 KIF1BP Zornitza Stark Publications for gene: KIF1BP were set to
Polymicrogyria and Schizencephaly v0.84 KIF1BP Zornitza Stark Tag new gene name tag was added to gene: KIF1BP.
Polymicrogyria and Schizencephaly v0.84 KIF1BP Zornitza Stark Mode of inheritance for gene: KIF1BP was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.84 KIF1BP Zornitza Stark Mode of inheritance for gene: KIF1BP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.83 KIF1BP Chloe Stutterd reviewed gene: KIF1BP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23427148, 15883926; Phenotypes: Polymicrogryia in Goldberg-Shprintzen megacolon syndrome MIM#609460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.83 GPSM2 Bryony Thompson Marked gene: GPSM2 as ready
Polymicrogyria and Schizencephaly v0.83 GPSM2 Bryony Thompson Gene: gpsm2 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.83 GPSM2 Bryony Thompson Classified gene: GPSM2 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.83 GPSM2 Bryony Thompson Gene: gpsm2 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.82 GPSM2 Bryony Thompson gene: GPSM2 was added
gene: GPSM2 was added to Polymicrogyria and Schizencephaly. Sources: Expert list
Mode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPSM2 were set to 22578326
Phenotypes for gene: GPSM2 were set to Chudley-McCullough syndrome MIM#604213
Review for gene: GPSM2 was set to GREEN
Added comment: Polymicrogyria is a prominent feature of the condtion, reported in at least 10/10 families.
Sources: Expert list
Polymicrogyria and Schizencephaly v0.81 CCND2 Bryony Thompson Marked gene: CCND2 as ready
Polymicrogyria and Schizencephaly v0.81 CCND2 Bryony Thompson Gene: ccnd2 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.81 CCND2 Bryony Thompson Classified gene: CCND2 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.81 CCND2 Bryony Thompson Gene: ccnd2 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.80 CCND2 Bryony Thompson gene: CCND2 was added
gene: CCND2 was added to Polymicrogyria and Schizencephaly. 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 24705253
Phenotypes for gene: CCND2 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 MIM#615938
Mode of pathogenicity for gene: CCND2 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: CCND2 was set to GREEN
Added comment: Polymicrogyria is a prominent feature of the condition. At least 12 cases with de novo or parental mosaic missense with expected gain of function.
Sources: Expert list
Polymicrogyria and Schizencephaly v0.79 RAB3GAP1 Zornitza Stark Marked gene: RAB3GAP1 as ready
Polymicrogyria and Schizencephaly v0.79 RAB3GAP1 Zornitza Stark Gene: rab3gap1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.79 RAB3GAP1 Zornitza Stark Phenotypes for gene: RAB3GAP1 were changed from to Warburg micro syndrome 1, MIM# 600118
Polymicrogyria and Schizencephaly v0.78 RAB3GAP1 Zornitza Stark Publications for gene: RAB3GAP1 were set to
Polymicrogyria and Schizencephaly v0.77 RAB3GAP1 Zornitza Stark Mode of inheritance for gene: RAB3GAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.76 RAB18 Zornitza Stark Marked gene: RAB18 as ready
Polymicrogyria and Schizencephaly v0.76 RAB18 Zornitza Stark Gene: rab18 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.76 RAB18 Zornitza Stark Phenotypes for gene: RAB18 were changed from to Warburg micro syndrome 3, MIM# 614222
Polymicrogyria and Schizencephaly v0.75 RAB18 Zornitza Stark Publications for gene: RAB18 were set to
Polymicrogyria and Schizencephaly v0.74 RAB18 Zornitza Stark Mode of inheritance for gene: RAB18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.73 RAB3GAP2 Lauren Akesson reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23420520, 20967465; Phenotypes: Warburg micro syndrome 2 614225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.73 RAB3GAP1 Lauren Akesson reviewed gene: RAB3GAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23420520; Phenotypes: Warburg micro syndrome 1 600118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.73 RAB18 Lauren Akesson reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21473985, 23420520; Phenotypes: Warburg micro syndrome 3 614222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.73 ADGRG1 Zornitza Stark Marked gene: ADGRG1 as ready
Polymicrogyria and Schizencephaly v0.73 ADGRG1 Zornitza Stark Gene: adgrg1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.73 ADGRG1 Zornitza Stark Phenotypes for gene: ADGRG1 were changed from to Polymicrogyria, bilateral frontoparietal, MIM#606854
Polymicrogyria and Schizencephaly v0.72 ADGRG1 Zornitza Stark Publications for gene: ADGRG1 were set to
Polymicrogyria and Schizencephaly v0.71 ADGRG1 Zornitza Stark Mode of inheritance for gene: ADGRG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.70 ADGRG1 Zornitza Stark reviewed gene: ADGRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16240336; Phenotypes: Polymicrogyria, bilateral frontoparietal, MIM#606854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.70 PAX6 Zornitza Stark Marked gene: PAX6 as ready
Polymicrogyria and Schizencephaly v0.70 PAX6 Zornitza Stark Gene: pax6 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.70 PAX6 Zornitza Stark Phenotypes for gene: PAX6 were changed from to ?Coloboma of optic nerve MIM# 120430; ?Coloboma, ocular MIM# 120200; ?Morning glory disc anomaly MIM# 120430; Aniridia MIM# 106210; Anterior segment dysgenesis 5, multiple subtypes MIM# 604229; Cataract with late-onset corneal dystrophy MIM# 106210; Foveal hypoplasia 1 MIM# 136520; Keratitis MIM# 148190; Optic nerve hypoplasia MIM# 165550
Polymicrogyria and Schizencephaly v0.69 PAX6 Zornitza Stark Publications for gene: PAX6 were set to
Polymicrogyria and Schizencephaly v0.68 PAX6 Zornitza Stark Mode of inheritance for gene: PAX6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.67 PAX6 Zornitza Stark Classified gene: PAX6 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.67 PAX6 Zornitza Stark Gene: pax6 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.66 NHEJ1 Zornitza Stark Marked gene: NHEJ1 as ready
Polymicrogyria and Schizencephaly v0.66 NHEJ1 Zornitza Stark Gene: nhej1 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.66 NHEJ1 Zornitza Stark Phenotypes for gene: NHEJ1 were changed from to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation (MIM# 611291)
Polymicrogyria and Schizencephaly v0.65 NHEJ1 Zornitza Stark Publications for gene: NHEJ1 were set to
Polymicrogyria and Schizencephaly v0.64 NHEJ1 Zornitza Stark Classified gene: NHEJ1 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.64 NHEJ1 Zornitza Stark Gene: nhej1 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.63 PAX6 Lauren Akesson reviewed gene: PAX6: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 12731001; Phenotypes: ?Coloboma of optic nerve MIM# 120430, ?Coloboma, ocular MIM# 120200, ?Morning glory disc anomaly MIM# 120430, Aniridia MIM# 106210, Anterior segment dysgenesis 5, multiple subtypes MIM# 604229, Cataract with late-onset corneal dystrophy MIM# 106210, Foveal hypoplasia 1 MIM# 136520, Keratitis MIM# 148190, Optic nerve hypoplasia MIM# 165550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.63 NHEJ1 Lauren Akesson reviewed gene: NHEJ1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 17191205; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation (MIM# 611291); Mode of inheritance: Unknown
Polymicrogyria and Schizencephaly v0.63 GRIN2B Zornitza Stark Marked gene: GRIN2B as ready
Polymicrogyria and Schizencephaly v0.63 GRIN2B Zornitza Stark Gene: grin2b has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.63 GRIN2B Zornitza Stark Phenotypes for gene: GRIN2B were changed from to GRIN2B-related neurodevelopmental disorder
Polymicrogyria and Schizencephaly v0.62 GRIN2B Zornitza Stark Publications for gene: GRIN2B were set to
Polymicrogyria and Schizencephaly v0.61 GRIN2B Zornitza Stark Mode of inheritance for gene: GRIN2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.60 GRIN1 Zornitza Stark Marked gene: GRIN1 as ready
Polymicrogyria and Schizencephaly v0.60 GRIN1 Zornitza Stark Gene: grin1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.60 GRIN1 Zornitza Stark Phenotypes for gene: GRIN1 were changed from to GRIN1-related neurodevelopmental disorder
Polymicrogyria and Schizencephaly v0.59 GRIN1 Zornitza Stark Publications for gene: GRIN1 were set to
Polymicrogyria and Schizencephaly v0.58 GRIN1 Zornitza Stark Mode of inheritance for gene: GRIN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.57 L1CAM Lauren Akesson reviewed gene: L1CAM: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 9926316, 27066571; Phenotypes: L1CAM-related disease; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Polymicrogyria and Schizencephaly v0.57 GRIN2B Lauren Akesson reviewed gene: GRIN2B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28377535; Phenotypes: GRIN2B-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.57 GRIN1 Lauren Akesson reviewed gene: GRIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29365063; Phenotypes: GRIN1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.57 FIG4 Zornitza Stark Marked gene: FIG4 as ready
Polymicrogyria and Schizencephaly v0.57 FIG4 Zornitza Stark Gene: fig4 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.57 FIG4 Zornitza Stark Phenotypes for gene: FIG4 were changed from to Polymicrogyria with epilepsy MIM# 612691
Polymicrogyria and Schizencephaly v0.56 FIG4 Zornitza Stark Publications for gene: FIG4 were set to
Polymicrogyria and Schizencephaly v0.55 FIG4 Zornitza Stark Mode of inheritance for gene: FIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.54 FIG4 Zornitza Stark Classified gene: FIG4 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.54 FIG4 Zornitza Stark Gene: fig4 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.53 FIG4 Lauren Akesson reviewed gene: FIG4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 18758830, 24598713; Phenotypes: ? Polymicrogyria with epilepsy MIM# 612691; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.53 EMX2 Zornitza Stark Marked gene: EMX2 as ready
Polymicrogyria and Schizencephaly v0.53 EMX2 Zornitza Stark Gene: emx2 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.53 EMX2 Zornitza Stark Phenotypes for gene: EMX2 were changed from to Schizencephaly MIM# 269160
Polymicrogyria and Schizencephaly v0.52 EMX2 Zornitza Stark Publications for gene: EMX2 were set to 8528262; 9359037; 9153481
Polymicrogyria and Schizencephaly v0.51 EMX2 Zornitza Stark Publications for gene: EMX2 were set to
Polymicrogyria and Schizencephaly v0.50 EMX2 Zornitza Stark Mode of inheritance for gene: EMX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.49 EMX2 Zornitza Stark Classified gene: EMX2 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.49 EMX2 Zornitza Stark Gene: emx2 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.48 EMX2 Zornitza Stark Tag disputed tag was added to gene: EMX2.
Polymicrogyria and Schizencephaly v0.48 COL18A1 Zornitza Stark Marked gene: COL18A1 as ready
Polymicrogyria and Schizencephaly v0.48 COL18A1 Zornitza Stark Gene: col18a1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.48 COL18A1 Zornitza Stark Phenotypes for gene: COL18A1 were changed from to Knobloch syndrome, type 1 MIM# 267750
Polymicrogyria and Schizencephaly v0.47 COL18A1 Zornitza Stark Publications for gene: COL18A1 were set to
Polymicrogyria and Schizencephaly v0.46 COL18A1 Zornitza Stark Mode of inheritance for gene: COL18A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.45 EMX2 Lauren Akesson reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 8528262, 9359037, 9153481; Phenotypes: Schizencephaly MIM# 269160; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.45 COL18A1 Lauren Akesson reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25456301, 19160445, 17546652; Phenotypes: Knobloch syndrome, type 1 MIM# 267750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.45 PI4KA Zornitza Stark Marked gene: PI4KA as ready
Polymicrogyria and Schizencephaly v0.45 PI4KA Zornitza Stark Gene: pi4ka has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.45 PI4KA Zornitza Stark Phenotypes for gene: PI4KA were changed from to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531
Polymicrogyria and Schizencephaly v0.44 PI4KA Zornitza Stark Publications for gene: PI4KA were set to
Polymicrogyria and Schizencephaly v0.43 PI4KA Zornitza Stark Mode of inheritance for gene: PI4KA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.42 PI4KA Zornitza Stark Classified gene: PI4KA as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.42 PI4KA Zornitza Stark Gene: pi4ka has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.41 PI4KA Zornitza Stark reviewed gene: PI4KA: Rating: AMBER; Mode of pathogenicity: None; Publications: 25855803; Phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.41 AHI1 Zornitza Stark Marked gene: AHI1 as ready
Polymicrogyria and Schizencephaly v0.41 AHI1 Zornitza Stark Gene: ahi1 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.41 AHI1 Zornitza Stark Phenotypes for gene: AHI1 were changed from to Joubert syndrome 3, MIM# 608629
Polymicrogyria and Schizencephaly v0.40 AHI1 Zornitza Stark Publications for gene: AHI1 were set to
Polymicrogyria and Schizencephaly v0.39 AHI1 Zornitza Stark Mode of inheritance for gene: AHI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.38 AHI1 Zornitza Stark Classified gene: AHI1 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.38 AHI1 Zornitza Stark Gene: ahi1 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.37 ASTN1 Zornitza Stark Marked gene: ASTN1 as ready
Polymicrogyria and Schizencephaly v0.37 ASTN1 Zornitza Stark Gene: astn1 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.37 ASTN1 Zornitza Stark Phenotypes for gene: ASTN1 were changed from to Polymicrogyria; hypoplastic corpus callosum
Polymicrogyria and Schizencephaly v0.36 ASTN1 Zornitza Stark Publications for gene: ASTN1 were set to
Polymicrogyria and Schizencephaly v0.35 ASTN1 Zornitza Stark Mode of inheritance for gene: ASTN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.34 ASTN1 Zornitza Stark Classified gene: ASTN1 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.34 ASTN1 Zornitza Stark Gene: astn1 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.33 ASTN1 Lauren Akesson reviewed gene: ASTN1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID 29706646; Phenotypes: Polymicrogyria, hypoplastic corpus callosum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.33 AHI1 Lauren Akesson reviewed gene: AHI1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 15467982; Phenotypes: Joubert syndrome 3, MIM# 608629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.33 BICD2 Zornitza Stark Marked gene: BICD2 as ready
Polymicrogyria and Schizencephaly v0.33 BICD2 Zornitza Stark Added comment: Comment when marking as ready: Mild polymicrogyria described in SMA, 2B.
Polymicrogyria and Schizencephaly v0.33 BICD2 Zornitza Stark Gene: bicd2 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.33 BICD2 Zornitza Stark Phenotypes for gene: BICD2 were changed from to Spinal muscular atrophy, lower extremity-predominant, 2B. MIM: 618291
Polymicrogyria and Schizencephaly v0.32 BICD2 Zornitza Stark Publications for gene: BICD2 were set to
Polymicrogyria and Schizencephaly v0.31 BICD2 Zornitza Stark Mode of inheritance for gene: BICD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.30 BICD2 Elena Savva reviewed gene: BICD2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28635954, 32057122; Phenotypes: Spinal muscular atrophy, lower extremity-predominant, 2A. MIM: 615290, Spinal muscular atrophy, lower extremity-predominant, 2B. MIM: 618291; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Polymicrogyria and Schizencephaly v0.30 TUBA8 Zornitza Stark Phenotypes for gene: TUBA8 were changed from to Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180
Polymicrogyria and Schizencephaly v0.29 TUBA8 Zornitza Stark Publications for gene: TUBA8 were set to
Polymicrogyria and Schizencephaly v0.28 TUBA8 Zornitza Stark Mode of inheritance for gene: TUBA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.27 TUBA8 Zornitza Stark Classified gene: TUBA8 as Red List (low evidence)
Polymicrogyria and Schizencephaly v0.27 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.26 TUBA8 Zornitza Stark reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.26 SRPX2 Zornitza Stark Marked gene: SRPX2 as ready
Polymicrogyria and Schizencephaly v0.26 SRPX2 Zornitza Stark Gene: srpx2 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.26 SRPX2 Zornitza Stark Phenotypes for gene: SRPX2 were changed from to Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643
Polymicrogyria and Schizencephaly v0.25 SRPX2 Zornitza Stark Publications for gene: SRPX2 were set to
Polymicrogyria and Schizencephaly v0.24 SRPX2 Zornitza Stark Mode of inheritance for gene: SRPX2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Polymicrogyria and Schizencephaly v0.23 SRPX2 Zornitza Stark Classified gene: SRPX2 as Red List (low evidence)
Polymicrogyria and Schizencephaly v0.23 SRPX2 Zornitza Stark Gene: srpx2 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.22 SRPX2 Zornitza Stark reviewed gene: SRPX2: Rating: RED; Mode of pathogenicity: None; Publications: 16497722, 23933820, 23871722; Phenotypes: Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Polymicrogyria and Schizencephaly v0.22 EML1 Zornitza Stark Marked gene: EML1 as ready
Polymicrogyria and Schizencephaly v0.22 EML1 Zornitza Stark Gene: eml1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.22 EML1 Zornitza Stark Phenotypes for gene: EML1 were changed from to Band heterotopia (MIM# 600348)
Polymicrogyria and Schizencephaly v0.21 EML1 Zornitza Stark Publications for gene: EML1 were set to
Polymicrogyria and Schizencephaly v0.20 EML1 Zornitza Stark Mode of inheritance for gene: EML1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.19 EML1 Zornitza Stark reviewed gene: EML1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31710781; Phenotypes: Band heterotopia (MIM# 600348); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.19 INTS8 Zornitza Stark Marked gene: INTS8 as ready
Polymicrogyria and Schizencephaly v0.19 INTS8 Zornitza Stark Gene: ints8 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.19 INTS8 Zornitza Stark Phenotypes for gene: INTS8 were changed from Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572 to Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572
Polymicrogyria and Schizencephaly v0.18 INTS8 Zornitza Stark Phenotypes for gene: INTS8 were changed from to Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572
Polymicrogyria and Schizencephaly v0.18 INTS8 Zornitza Stark Publications for gene: INTS8 were set to
Polymicrogyria and Schizencephaly v0.17 INTS8 Zornitza Stark Mode of inheritance for gene: INTS8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.17 INTS8 Zornitza Stark Classified gene: INTS8 as Red List (low evidence)
Polymicrogyria and Schizencephaly v0.17 INTS8 Zornitza Stark Gene: ints8 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.16 INTS8 Zornitza Stark reviewed gene: INTS8: Rating: RED; Mode of pathogenicity: None; Publications: 28542170; Phenotypes: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.16 MAPK8IP3 Zornitza Stark Marked gene: MAPK8IP3 as ready
Polymicrogyria and Schizencephaly v0.16 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.16 MAPK8IP3 Zornitza Stark Classified gene: MAPK8IP3 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.16 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.15 MAPK8IP3 Zornitza Stark gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAPK8IP3 were set to 30612693
Phenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431
Review for gene: MAPK8IP3 was set to GREEN
Added comment: 13 unrelated individuals reported, with de novo truncating or missense variants (one recurrent). Brain anomalies such as perisylvian polymicrogyria, cerebral or cerebellar atrophy, and hypoplasia of the corpus callosum were consistent among individuals harboring recurrent de novo missense variants.
Sources: Literature
Polymicrogyria and Schizencephaly v0.14 MAP1B Zornitza Stark Marked gene: MAP1B as ready
Polymicrogyria and Schizencephaly v0.14 MAP1B Zornitza Stark Gene: map1b has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.14 MAP1B Zornitza Stark Phenotypes for gene: MAP1B were changed from to Intellectual disability; seizures; PVNH; dysmorphic features
Polymicrogyria and Schizencephaly v0.13 MAP1B Zornitza Stark Publications for gene: MAP1B were set to
Polymicrogyria and Schizencephaly v0.12 MAP1B Zornitza Stark Mode of inheritance for gene: MAP1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.11 Zornitza Stark Panel name changed from Polymicrogyria and schizencephaly_AustralianGenomics_VCGS to Polymicrogyria and Schizencephaly
Panel types changed to Victorian Clinical Genetics Services
Polymicrogyria and Schizencephaly v0.10 COL4A1 Zornitza Stark Marked gene: COL4A1 as ready
Polymicrogyria and Schizencephaly v0.10 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.10 COL4A1 Zornitza Stark Phenotypes for gene: COL4A1 were changed from to 1. Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 AD; 2. Brain small vessel disease with or without ocular anomalies, 175780, AD; 3. Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564, AD; 4. ?Retinal arteries, tortuosity of, 180000, AD; 5. {Hemorrhage, intracerebral, susceptibility to}, 614519
Polymicrogyria and Schizencephaly v0.9 COL4A1 Zornitza Stark Publications for gene: COL4A1 were set to
Polymicrogyria and Schizencephaly v0.8 COL4A1 Zornitza Stark Mode of inheritance for gene: COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.7 COL4A1 Michelle Torres reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23065703, PMID: 31719132; Phenotypes: 1. Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 AD, 2. Brain small vessel disease with or without ocular anomalies, 175780, AD, 3. Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564, AD, 4. ?Retinal arteries, tortuosity of, 180000, AD, 5. {Hemorrhage, intracerebral, susceptibility to}, 614519; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.7 ATP1A2 Zornitza Stark Marked gene: ATP1A2 as ready
Polymicrogyria and Schizencephaly v0.7 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.7 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from to hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations
Polymicrogyria and Schizencephaly v0.6 ATP1A2 Zornitza Stark Publications for gene: ATP1A2 were set to
Polymicrogyria and Schizencephaly v0.5 ATP1A2 Zornitza Stark Mode of inheritance for gene: ATP1A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.4 ATP1A2 Zornitza Stark reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31608932; Phenotypes: hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.4 EOMES Zornitza Stark Marked gene: EOMES as ready
Polymicrogyria and Schizencephaly v0.4 EOMES Zornitza Stark Gene: eomes has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.4 EOMES Zornitza Stark Phenotypes for gene: EOMES were changed from to Microcephaly
Polymicrogyria and Schizencephaly v0.3 EOMES Zornitza Stark Mode of inheritance for gene: EOMES was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.3 EOMES Zornitza Stark Classified gene: EOMES as Red List (low evidence)
Polymicrogyria and Schizencephaly v0.3 EOMES Zornitza Stark Gene: eomes has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.2 EOMES Zornitza Stark Classified gene: EOMES as Red List (low evidence)
Polymicrogyria and Schizencephaly v0.2 EOMES Zornitza Stark Gene: eomes has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.2 EOMES Zornitza Stark Classified gene: EOMES as Red List (low evidence)
Polymicrogyria and Schizencephaly v0.2 EOMES Zornitza Stark Gene: eomes has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.1 EOMES Zornitza Stark Mode of inheritance for gene: EOMES was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.1 EOMES Zornitza Stark Publications for gene: EOMES were set to
Polymicrogyria and Schizencephaly v0.1 EOMES Zornitza Stark Classified gene: EOMES as Red List (low evidence)
Polymicrogyria and Schizencephaly v0.1 EOMES Zornitza Stark Gene: eomes has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.0 EOMES Zornitza Stark reviewed gene: EOMES: Rating: RED; Mode of pathogenicity: None; Publications: 17353897; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.0 MAP1B Zornitza Stark reviewed gene: MAP1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31317654, 30150678, 30214071; Phenotypes: Intellectual disability, seizures, PVNH, dysmorphic features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Polymicrogyria and Schizencephaly v0.0 WDR62 Zornitza Stark gene: WDR62 was added
gene: WDR62 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: WDR62 was set to Unknown
Polymicrogyria and Schizencephaly v0.0 TUBB3 Zornitza Stark gene: TUBB3 was added
gene: TUBB3 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TUBB3 was set to Unknown
Polymicrogyria and Schizencephaly v0.0 TUBB2B Zornitza Stark gene: TUBB2B was added
gene: TUBB2B was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TUBB2B was set to Unknown
Polymicrogyria and Schizencephaly v0.0 TUBB Zornitza Stark gene: TUBB was added
gene: TUBB was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TUBB was set to Unknown
Polymicrogyria and Schizencephaly v0.0 TUBA8 Zornitza Stark gene: TUBA8 was added
gene: TUBA8 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TUBA8 was set to Unknown
Polymicrogyria and Schizencephaly v0.0 TUBA1A Zornitza Stark gene: TUBA1A was added
gene: TUBA1A was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TUBA1A was set to Unknown
Polymicrogyria and Schizencephaly v0.0 TMEM216 Zornitza Stark gene: TMEM216 was added
gene: TMEM216 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TMEM216 was set to Unknown
Polymicrogyria and Schizencephaly v0.0 SRPX2 Zornitza Stark gene: SRPX2 was added
gene: SRPX2 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SRPX2 was set to Unknown
Polymicrogyria and Schizencephaly v0.0 SIX3 Zornitza Stark gene: SIX3 was added
gene: SIX3 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SIX3 was set to Unknown
Polymicrogyria and Schizencephaly v0.0 SHH Zornitza Stark gene: SHH was added
gene: SHH was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SHH was set to Unknown
Polymicrogyria and Schizencephaly v0.0 RTTN Zornitza Stark gene: RTTN was added
gene: RTTN was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: RTTN was set to Unknown
Polymicrogyria and Schizencephaly v0.0 RAB3GAP2 Zornitza Stark gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: RAB3GAP2 was set to Unknown
Polymicrogyria and Schizencephaly v0.0 RAB3GAP1 Zornitza Stark gene: RAB3GAP1 was added
gene: RAB3GAP1 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: RAB3GAP1 was set to Unknown
Polymicrogyria and Schizencephaly v0.0 RAB18 Zornitza Stark gene: RAB18 was added
gene: RAB18 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: RAB18 was set to Unknown
Polymicrogyria and Schizencephaly v0.0 PIK3R2 Zornitza Stark gene: PIK3R2 was added
gene: PIK3R2 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: PIK3R2 was set to Unknown
Polymicrogyria and Schizencephaly v0.0 PIK3CA Zornitza Stark gene: PIK3CA was added
gene: PIK3CA was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: PIK3CA was set to Unknown
Polymicrogyria and Schizencephaly v0.0 PI4KA Zornitza Stark gene: PI4KA was added
gene: PI4KA was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: PI4KA was set to Unknown
Polymicrogyria and Schizencephaly v0.0 PAX6 Zornitza Stark gene: PAX6 was added
gene: PAX6 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: PAX6 was set to Unknown
Polymicrogyria and Schizencephaly v0.0 OCLN Zornitza Stark gene: OCLN was added
gene: OCLN was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: OCLN was set to Unknown
Polymicrogyria and Schizencephaly v0.0 NSDHL Zornitza Stark gene: NSDHL was added
gene: NSDHL was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: NSDHL was set to Unknown
Polymicrogyria and Schizencephaly v0.0 NHEJ1 Zornitza Stark gene: NHEJ1 was added
gene: NHEJ1 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: NHEJ1 was set to Unknown
Polymicrogyria and Schizencephaly v0.0 NDE1 Zornitza Stark gene: NDE1 was added
gene: NDE1 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: NDE1 was set to Unknown
Polymicrogyria and Schizencephaly v0.0 MAP1B Zornitza Stark gene: MAP1B was added
gene: MAP1B was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: MAP1B was set to Unknown
Polymicrogyria and Schizencephaly v0.0 LAMC3 Zornitza Stark gene: LAMC3 was added
gene: LAMC3 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: LAMC3 was set to Unknown
Polymicrogyria and Schizencephaly v0.0 L1CAM Zornitza Stark gene: L1CAM was added
gene: L1CAM was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: L1CAM was set to Unknown
Polymicrogyria and Schizencephaly v0.0 KIF5C Zornitza Stark gene: KIF5C was added
gene: KIF5C was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: KIF5C was set to Unknown
Polymicrogyria and Schizencephaly v0.0 KIF1BP Zornitza Stark gene: KIF1BP was added
gene: KIF1BP was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: KIF1BP was set to Unknown
Polymicrogyria and Schizencephaly v0.0 INTS8 Zornitza Stark gene: INTS8 was added
gene: INTS8 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: INTS8 was set to Unknown
Polymicrogyria and Schizencephaly v0.0 GRIN2B Zornitza Stark gene: GRIN2B was added
gene: GRIN2B was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: GRIN2B was set to Unknown
Polymicrogyria and Schizencephaly v0.0 GRIN1 Zornitza Stark gene: GRIN1 was added
gene: GRIN1 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: GRIN1 was set to Unknown
Polymicrogyria and Schizencephaly v0.0 FIG4 Zornitza Stark gene: FIG4 was added
gene: FIG4 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FIG4 was set to Unknown
Polymicrogyria and Schizencephaly v0.0 EOMES Zornitza Stark gene: EOMES was added
gene: EOMES was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: EOMES was set to Unknown
Polymicrogyria and Schizencephaly v0.0 EMX2 Zornitza Stark gene: EMX2 was added
gene: EMX2 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: EMX2 was set to Unknown
Polymicrogyria and Schizencephaly v0.0 EML1 Zornitza Stark gene: EML1 was added
gene: EML1 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: EML1 was set to Unknown
Polymicrogyria and Schizencephaly v0.0 DYNC1H1 Zornitza Stark gene: DYNC1H1 was added
gene: DYNC1H1 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: DYNC1H1 was set to Unknown
Polymicrogyria and Schizencephaly v0.0 COL4A1 Zornitza Stark gene: COL4A1 was added
gene: COL4A1 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: COL4A1 was set to Unknown
Polymicrogyria and Schizencephaly v0.0 COL18A1 Zornitza Stark gene: COL18A1 was added
gene: COL18A1 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: COL18A1 was set to Unknown
Polymicrogyria and Schizencephaly v0.0 BICD2 Zornitza Stark gene: BICD2 was added
gene: BICD2 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: BICD2 was set to Unknown
Polymicrogyria and Schizencephaly v0.0 ATP1A2 Zornitza Stark gene: ATP1A2 was added
gene: ATP1A2 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ATP1A2 was set to Unknown
Polymicrogyria and Schizencephaly v0.0 ASTN1 Zornitza Stark gene: ASTN1 was added
gene: ASTN1 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ASTN1 was set to Unknown
Polymicrogyria and Schizencephaly v0.0 ARX Zornitza Stark gene: ARX was added
gene: ARX was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ARX was set to Unknown
Polymicrogyria and Schizencephaly v0.0 AKT3 Zornitza Stark gene: AKT3 was added
gene: AKT3 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: AKT3 was set to Unknown
Polymicrogyria and Schizencephaly v0.0 AHI1 Zornitza Stark gene: AHI1 was added
gene: AHI1 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: AHI1 was set to Unknown
Polymicrogyria and Schizencephaly v0.0 ADGRG1 Zornitza Stark gene: ADGRG1 was added
gene: ADGRG1 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ADGRG1 was set to Unknown
Polymicrogyria and Schizencephaly v0.0 Zornitza Stark Added panel Polymicrogyria and schizencephaly_AustralianGenomics_VCGS