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Ataxia - paediatric v1.30 CAPRIN1 Shekeeb Mohammad gene: CAPRIN1 was added
gene: CAPRIN1 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: CAPRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CAPRIN1 were set to 39878554
Phenotypes for gene: CAPRIN1 were set to Childhood Dementia; Myoclonus-Ataxia; Sensorimotor Neuropathy; cerebellar atrophy; cortical atrophy
Penetrance for gene: CAPRIN1 were set to unknown
Review for gene: CAPRIN1 was set to GREEN
gene: CAPRIN1 was marked as current diagnostic
Added comment: Sources: Literature
Ataxia - paediatric v1.30 EEFSEC Zornitza Stark Marked gene: EEFSEC as ready
Ataxia - paediatric v1.30 EEFSEC Zornitza Stark Gene: eefsec has been classified as Green List (High Evidence).
Ataxia - paediatric v1.30 EEFSEC Zornitza Stark Classified gene: EEFSEC as Green List (high evidence)
Ataxia - paediatric v1.30 EEFSEC Zornitza Stark Gene: eefsec has been classified as Green List (High Evidence).
Ataxia - paediatric v1.29 EEFSEC Zornitza Stark gene: EEFSEC was added
gene: EEFSEC was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: EEFSEC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EEFSEC were set to 39753114
Phenotypes for gene: EEFSEC were set to Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related
Review for gene: EEFSEC was set to GREEN
Added comment: Nine individuals from 8 unrelated families reported with bi-allelic variants in this gene and progressive neurodevelopmental disorder manifesting with global developmental delay, progressive spasticity, ataxia, and seizures. Cerebral MRI primarily demonstrated a cerebellar pathology, including hypoplasia and progressive atrophy. In line with the clinical phenotype, an eEFSec-RNAi Drosophila model displays progressive impairment of motor function, which is reflected in the synaptic defects in this model organisms.
Sources: Literature
Ataxia - paediatric v1.28 AP1S2 Ain Roesley Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5, MIM#304340 to Pettigrew syndrome, MIM# 304340
Ataxia - paediatric v1.27 PAX6 Chirag Patel Classified gene: PAX6 as Red List (low evidence)
Ataxia - paediatric v1.27 PAX6 Chirag Patel Gene: pax6 has been classified as Red List (Low Evidence).
Ataxia - paediatric v1.26 PAX6 Chirag Patel reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ataxia - paediatric v1.26 FDXR Zornitza Stark Marked gene: FDXR as ready
Ataxia - paediatric v1.26 FDXR Zornitza Stark Gene: fdxr has been classified as Green List (High Evidence).
Ataxia - paediatric v1.26 FDXR Zornitza Stark Classified gene: FDXR as Green List (high evidence)
Ataxia - paediatric v1.26 FDXR Zornitza Stark Gene: fdxr has been classified as Green List (High Evidence).
Ataxia - paediatric v1.25 FDXR Zornitza Stark gene: FDXR was added
gene: FDXR was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: FDXR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FDXR were set to 30250212; 28965846; 29040572; 33348459; 37046037; 37481223
Phenotypes for gene: FDXR were set to Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887
Review for gene: FDXR was set to GREEN
Added comment: Multiple reports of individuals with extra-ocular features, including ID and regression; microcephaly. Ataxia reported in multiple individuals, largely paediatric.
Sources: Literature
Ataxia - paediatric v1.24 TUBA4A Bryony Thompson Marked gene: TUBA4A as ready
Ataxia - paediatric v1.24 TUBA4A Bryony Thompson Gene: tuba4a has been classified as Green List (High Evidence).
Ataxia - paediatric v1.24 TUBA4A Bryony Thompson Classified gene: TUBA4A as Green List (high evidence)
Ataxia - paediatric v1.24 TUBA4A Bryony Thompson Gene: tuba4a has been classified as Green List (High Evidence).
Ataxia - paediatric v1.23 TUBA4A Bryony Thompson gene: TUBA4A was added
gene: TUBA4A was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: TUBA4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBA4A were set to 38884572; 37418012
Phenotypes for gene: TUBA4A were set to Hereditary ataxia MONDO:0100309, TUBA4A-related
Mode of pathogenicity for gene: TUBA4A was set to Other
Review for gene: TUBA4A was set to GREEN
Added comment: PMID: 38884572 - Multicentre cohort of 12 patients from 11 unrelated families presenting with ataxia age of onset 2-60 yrs (9 different missense variants). Spasticity was present in 7/12, 58.3%, cognitive decline in 4/12, 33,3%, and amyotrophy or upper limb muscular weakness in 2/12, 16.6%. 2 patients with p.Pro173Arg also had learning disabilities. 5 cases were confirmed de novo for the variants. Enrichment of rare missense in an ataxia cohort from UK 100k genomes - 6/1103 cases vs 2/20,904 controls, OR = 57.0847 [10.2- 576.7], p = 4.02e-7. Cultured fibroblasts from 3 patients harbouring distinct TUBA4A missense showed significant alterations in microtubule organisation and dynamics, suggestive of a dominant negative mechanism of disease.

PMID: 37418012 - 2 Italian spastic ataxia families with p.Glu415Lys, one family segregating the variant in 11 affected individuals and one de novo.
Sources: Literature
Ataxia - paediatric v1.22 MTCL1 Zornitza Stark Mode of inheritance for gene: MTCL1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v1.21 DAGLA Zornitza Stark Marked gene: DAGLA as ready
Ataxia - paediatric v1.21 DAGLA Zornitza Stark Gene: dagla has been classified as Green List (High Evidence).
Ataxia - paediatric v1.21 DAGLA Zornitza Stark Classified gene: DAGLA as Green List (high evidence)
Ataxia - paediatric v1.21 DAGLA Zornitza Stark Gene: dagla has been classified as Green List (High Evidence).
Ataxia - paediatric v1.20 DAGLA Zornitza Stark gene: DAGLA was added
gene: DAGLA was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: DAGLA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DAGLA were set to 35737950
Phenotypes for gene: DAGLA were set to Neuroocular syndrome 2, paroxysmal type, MIM# 168885
Review for gene: DAGLA was set to GREEN
Added comment: 9 individuals from 8 families reported with daily paroxysmal spells characterized by eye deviation or nystagmus with abnormal head posturing apparent from birth or early infancy. The episodes tend to be triggered after sleeping, and most patients show improvement of the ocular symptoms over time. Affected individuals also have hypotonia, mild developmental delay, dysarthria, and gait ataxia; most have mildly impaired intellectual development. Seizures are not observed.
Sources: Literature
Ataxia - paediatric v1.19 ACBD6 Zornitza Stark Phenotypes for gene: ACBD6 were changed from Neurodevelopmental disorder (MONDO#0700092), ACBD6-related to Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785
Ataxia - paediatric v1.18 ACBD6 Zornitza Stark reviewed gene: ACBD6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v1.18 ATP6V0A1 Elena Savva Phenotypes for gene: ATP6V0A1 were changed from Neurodevelopmental disorder, MONDO:0700092, ATP6V0A1-associated to Developmental and epileptic encephalopathy 104 MIM#619970; Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971
Ataxia - paediatric v1.17 COQ4 Zornitza Stark edited their review of gene: COQ4: Added comment: PMIDs 36047608;38014483;38013626: more than 10 families reported with more limited spastic ataxia phenotype, onset from infancy to adulthood.; Changed publications: 30225196, 33704555, 30847826, 36047608, 38014483, 38013626; Changed phenotypes: Coenzyme Q10 deficiency, primary, 7, MIM# 616276, Spastic ataxia 10, autosomal recessive, MIM# 620666
Ataxia - paediatric v1.17 SLC13A3 Zornitza Stark Marked gene: SLC13A3 as ready
Ataxia - paediatric v1.17 SLC13A3 Zornitza Stark Gene: slc13a3 has been classified as Green List (High Evidence).
Ataxia - paediatric v1.17 SLC13A3 Zornitza Stark Classified gene: SLC13A3 as Green List (high evidence)
Ataxia - paediatric v1.17 SLC13A3 Zornitza Stark Gene: slc13a3 has been classified as Green List (High Evidence).
Ataxia - paediatric v1.16 SLC13A3 Daniel Flanagan gene: SLC13A3 was added
gene: SLC13A3 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: SLC13A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC13A3 were set to https://www.neurology.org/doi/full/10.1212/NXG.0000000000200101 (No PMID)
Phenotypes for gene: SLC13A3 were set to Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384)
Review for gene: SLC13A3 was set to GREEN
Added comment: Seven patients reported with biallelic SLC13A3 variants, causing acute reversible leukoencephalopathy and α-ketoglutarate accumulation. Patients presented with acute neurological deterioration after a febrile illness. 5/7 with ataxia, 4/7 had seizures, 1/7 developmental delay.
Sources: Expert list
Ataxia - paediatric v1.16 PRICKLE1 Zornitza Stark Classified gene: PRICKLE1 as Red List (low evidence)
Ataxia - paediatric v1.16 PRICKLE1 Zornitza Stark Gene: prickle1 has been classified as Red List (Low Evidence).
Ataxia - paediatric v1.15 PRICKLE1 Zornitza Stark edited their review of gene: PRICKLE1: Added comment: LIMITED by ClinGen for AR PME.; Changed rating: RED
Ataxia - paediatric v1.15 PRICKLE1 Zornitza Stark Classified gene: PRICKLE1 as Amber List (moderate evidence)
Ataxia - paediatric v1.15 PRICKLE1 Zornitza Stark Gene: prickle1 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v1.14 PRICKLE1 Zornitza Stark edited their review of gene: PRICKLE1: Added comment: Note most reported variants are missense with little further supportive evidence and ClinVar variants in this gene are all VOUS/LB/B.; Changed rating: AMBER
Ataxia - paediatric v1.14 ACBD6 Elena Savva Classified gene: ACBD6 as Green List (high evidence)
Ataxia - paediatric v1.14 ACBD6 Elena Savva Gene: acbd6 has been classified as Green List (High Evidence).
Ataxia - paediatric v1.13 ACBD6 Elena Savva Classified gene: ACBD6 as Green List (high evidence)
Ataxia - paediatric v1.13 ACBD6 Elena Savva Gene: acbd6 has been classified as Green List (High Evidence).
Ataxia - paediatric v1.12 ACBD6 Elena Savva Marked gene: ACBD6 as ready
Ataxia - paediatric v1.12 ACBD6 Elena Savva Gene: acbd6 has been removed from the panel.
Ataxia - paediatric v1.12 ACBD6 Lucy Spencer gene: ACBD6 was added
gene: ACBD6 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: ACBD6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACBD6 were set to 37951597
Phenotypes for gene: ACBD6 were set to Neurodevelopmental disorder (MONDO#0700092), ACBD6-related
Review for gene: ACBD6 was set to GREEN
Added comment: PMID: 37951597
45 individuals from 28 families with a neurodevelopmental syndrome with complex and progressive movement disorder phenotype. 18 PTCs and splice, 1 missense 1 in frame insertion.

Phenotypes: weight was >50th percentile in 20/34 patients, all mod-severe GDD, facial dysmorphism in 38/40, mild cerebellar ataxia 35/41, limb spasticity/hypertonia 31/41, gait abnormalities in 33/35, dystonia in 30/31.
Sources: Literature
Ataxia - paediatric v1.12 ATP2B2 Zornitza Stark Marked gene: ATP2B2 as ready
Ataxia - paediatric v1.12 ATP2B2 Zornitza Stark Gene: atp2b2 has been classified as Green List (High Evidence).
Ataxia - paediatric v1.12 ATP2B2 Zornitza Stark Classified gene: ATP2B2 as Green List (high evidence)
Ataxia - paediatric v1.12 ATP2B2 Zornitza Stark Gene: atp2b2 has been classified as Green List (High Evidence).
Ataxia - paediatric v1.11 ATP2B2 Andrew Fennell gene: ATP2B2 was added
gene: ATP2B2 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: ATP2B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP2B2 were set to PMID: 37675773
Phenotypes for gene: ATP2B2 were set to Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related
Mode of pathogenicity for gene: ATP2B2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: ATP2B2 was set to GREEN
Added comment: 7 unrelated individuals reported with a variable phenotype including dystonia, ataxia, intellectual disability, behavioural symptoms, and seizures.

All patients have either missense variants or frameshift variants in the penultimate exon not expected to lead to NMD. This is in contrast to patients with isolated deafness previously reported to have nonsense, frameshift, or splice-site variants outside of this region.
Sources: Literature
Ataxia - paediatric v1.11 AGTPBP1 Zornitza Stark Marked gene: AGTPBP1 as ready
Ataxia - paediatric v1.11 AGTPBP1 Zornitza Stark Gene: agtpbp1 has been classified as Green List (High Evidence).
Ataxia - paediatric v1.11 AGTPBP1 Zornitza Stark Classified gene: AGTPBP1 as Green List (high evidence)
Ataxia - paediatric v1.11 AGTPBP1 Zornitza Stark Gene: agtpbp1 has been classified as Green List (High Evidence).
Ataxia - paediatric v1.10 AGTPBP1 Zornitza Stark gene: AGTPBP1 was added
gene: AGTPBP1 was added to Ataxia - paediatric. Sources: Expert Review
Mode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGTPBP1 were set to 30420557
Phenotypes for gene: AGTPBP1 were set to Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276
Review for gene: AGTPBP1 was set to GREEN
Added comment: Thirteen individuals with bi-allelic variants in this gene, complex neurological phenotype of dev delay/ID, cerebellar atrophy and neuropathy, severe progressive course in six.
Sources: Expert Review
Ataxia - paediatric v1.9 TTI1 Zornitza Stark Phenotypes for gene: TTI1 were changed from Neurodevelopmental disorder, MONDO:0700092, TTI1-related to Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445
Ataxia - paediatric v1.8 TTI1 Zornitza Stark Publications for gene: TTI1 were set to
Ataxia - paediatric v1.7 TTI1 Zornitza Stark reviewed gene: TTI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36724785; Phenotypes: Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v1.7 TPR Zornitza Stark Phenotypes for gene: TPR were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, TPR-related to Intellectual developmental disorder, autosomal recessive 79, MIM# 620393
Ataxia - paediatric v1.6 TPR Zornitza Stark edited their review of gene: TPR: Changed phenotypes: Intellectual developmental disorder, autosomal recessive 79, MIM# 620393
Ataxia - paediatric v1.6 TTI1 Zornitza Stark Phenotypes for gene: TTI1 were changed from to Neurodevelopmental disorder, MONDO:0700092, TTI1-related
Ataxia - paediatric v1.5 TTI1 Zornitza Stark Mode of inheritance for gene: TTI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v1.4 TTI1 Zornitza Stark Classified gene: TTI1 as Green List (high evidence)
Ataxia - paediatric v1.4 TTI1 Zornitza Stark Gene: tti1 has been classified as Green List (High Evidence).
Ataxia - paediatric v1.3 TTI1 Ee Ming Wong reviewed gene: TTI1: Rating: GREEN; Mode of pathogenicity: None; Publications: DOI:https://doi.org/10.1016/j.ajhg.2023.01.006; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, TTI1-related to; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Ataxia - paediatric v1.3 TPR Zornitza Stark Marked gene: TPR as ready
Ataxia - paediatric v1.3 TPR Zornitza Stark Gene: tpr has been classified as Red List (Low Evidence).
Ataxia - paediatric v1.3 TPR Zornitza Stark gene: TPR was added
gene: TPR was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: TPR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPR were set to 34494102
Phenotypes for gene: TPR were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, TPR-related
Review for gene: TPR was set to RED
Added comment: Two siblings harbouring variants c.6625C>T/ p.Arg2209Ter (identified in heterozygous state in both siblings and father) and c.2610 + 5G > A (identified in heterozygous state in both siblings and mother) were reported with ataxia, microcephaly and severe intellectual disability. Functional analyses in patient fibroblasts provide evidence that the variants affect TPR splicing, reduce steady-state TPR levels, abnormal nuclear pore composition and density, and altered global RNA distribution.
Sources: Literature
Ataxia - paediatric v1.2 FRMD5 Zornitza Stark Phenotypes for gene: FRMD5 were changed from Neurodevelopmental disorder MONDO:0700092, FRMD5-related to Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094
Ataxia - paediatric v1.1 FRMD5 Zornitza Stark edited their review of gene: FRMD5: Changed phenotypes: Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094
Ataxia - paediatric v1.1 LETM1 Zornitza Stark Phenotypes for gene: LETM1 were changed from Mitochondrial disease MONDO#0044970, LETM1-related to Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089
Ataxia - paediatric v1.0 LETM1 Zornitza Stark edited their review of gene: LETM1: Changed phenotypes: Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v1.0 Bryony Thompson promoted panel to version 1.0
Ataxia - paediatric v0.349 NPC1 Bryony Thompson Marked gene: NPC1 as ready
Ataxia - paediatric v0.349 NPC1 Bryony Thompson Gene: npc1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.349 NPC1 Bryony Thompson Publications for gene: NPC1 were set to
Ataxia - paediatric v0.348 NPC1 Bryony Thompson reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10480349, 17003072, 25497598, 33228797; Phenotypes: Niemann-Pick disease, type C1 MONDO:0009757, ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Ataxia - paediatric v0.348 HARS Bryony Thompson edited their review of gene: HARS: Changed publications: 32333447
Ataxia - paediatric v0.347 FRMD5 Zornitza Stark Marked gene: FRMD5 as ready
Ataxia - paediatric v0.347 FRMD5 Zornitza Stark Gene: frmd5 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.347 FRMD5 Zornitza Stark Classified gene: FRMD5 as Green List (high evidence)
Ataxia - paediatric v0.347 FRMD5 Zornitza Stark Gene: frmd5 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.346 FRMD5 Zornitza Stark gene: FRMD5 was added
gene: FRMD5 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: FRMD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FRMD5 were set to 36206744
Phenotypes for gene: FRMD5 were set to Neurodevelopmental disorder MONDO:0700092, FRMD5-related
Review for gene: FRMD5 was set to GREEN
Added comment: Eight individuals reported with missense variants in this gene, de novo in 6 where parents were available. Clinical presentation was with ID, seizures, ataxia. Fly model.
Sources: Literature
Ataxia - paediatric v0.345 LETM1 Zornitza Stark Marked gene: LETM1 as ready
Ataxia - paediatric v0.345 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.345 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Ataxia - paediatric v0.345 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.344 LETM1 Ee Ming Wong gene: LETM1 was added
gene: LETM1 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214
Phenotypes for gene: LETM1 were set to Mitochondrial disease MONDO#0044970, LETM1-related
Review for gene: LETM1 was set to GREEN
gene: LETM1 was marked as current diagnostic
Added comment: -18 affected individuals from 11 unrelated families harbouring ultra-rare bi-allelic missense and loss-of-function LETM1 variants
-Most of the affected individuals (14/18, 78%) had an infantile-onset disease manifestation,
and 4/18 (22%) presented first symptoms between the ages of 1.5 and 2 years
-Variant types included missense, frameshift, stop loss, in-frame deletion and splice defect
-From biochemical and morphological studies, bi-allelic LETM1 variants are associated with defective mitochondrial K efflux, swollen mitochondrial matrix structures, and loss of important mitochondrial oxidative phosphorylation protein components
Sources: Literature
Ataxia - paediatric v0.344 MTTP Zornitza Stark Tag treatable tag was added to gene: MTTP.
Ataxia - paediatric v0.344 COQ8A Zornitza Stark Tag treatable tag was added to gene: COQ8A.
Ataxia - paediatric v0.344 COQ4 Zornitza Stark Tag treatable tag was added to gene: COQ4.
Ataxia - paediatric v0.344 MMACHC Zornitza Stark Tag treatable tag was added to gene: MMACHC.
Ataxia - paediatric v0.344 ARSA Zornitza Stark Tag treatable tag was added to gene: ARSA.
Tag clinical trial tag was added to gene: ARSA.
Ataxia - paediatric v0.344 Zornitza Stark List of related panels changed from to Ataxia; HP:0001251
Ataxia - paediatric v0.343 UCHL1 Zornitza Stark Phenotypes for gene: UCHL1 were changed from Early onset ataxia and optic neuropathy; Autosomal recessive spastic paraplegia 79, 615491 to Spastic paraplegia 79, autosomal recessive, MIM#615491; Neurodegenerative disease, MONDO:0005559, UCHL1-related
Ataxia - paediatric v0.342 UCHL1 Zornitza Stark Publications for gene: UCHL1 were set to
Ataxia - paediatric v0.341 UCHL1 Zornitza Stark Mode of inheritance for gene: UCHL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ataxia - paediatric v0.340 UCHL1 Zornitza Stark edited their review of gene: UCHL1: Added comment: PMID 35986737: 34 individuals from 18 unrelated families, carrying 13 heterozygous loss-of-function variants (15 families) and an inframe insertion (3 families). Affected individuals mainly presented with spasticity (24/31), ataxia (28/31), neuropathy (11/21), and optic atrophy (9/17).; Changed publications: 28007905, 23359680, 11555633, 35986737; Changed phenotypes: Spastic paraplegia 79, autosomal recessive, MIM#615491, Neurodegenerative disease, MONDO:0005559, UCHL1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ataxia - paediatric v0.340 Zornitza Stark HPO terms changed from to Ataxia, HP:0001251
Ataxia - paediatric v0.339 GBA2 Zornitza Stark Marked gene: GBA2 as ready
Ataxia - paediatric v0.339 GBA2 Zornitza Stark Gene: gba2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.339 GBA2 Zornitza Stark Phenotypes for gene: GBA2 were changed from Spastic paraplegia 46, autosomal recessive, 614409; Spastic paraplegia 46, 614409 to Spastic paraplegia 46, autosomal recessive, MIM# 614409; MONDO:0013737
Ataxia - paediatric v0.338 GBA2 Zornitza Stark Publications for gene: GBA2 were set to
Ataxia - paediatric v0.337 GBA2 Chirag Patel reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23332916, 23332917, 29524657; Phenotypes: Spastic paraplegia 46, autosomal recessive, MIM# 614409, MONDO:0013737; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.337 PMPCA Zornitza Stark Marked gene: PMPCA as ready
Ataxia - paediatric v0.337 PMPCA Zornitza Stark Gene: pmpca has been classified as Green List (High Evidence).
Ataxia - paediatric v0.337 PMPCA Zornitza Stark Phenotypes for gene: PMPCA were changed from Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200 to Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200
Ataxia - paediatric v0.337 PMPCA Zornitza Stark Phenotypes for gene: PMPCA were changed from Autosomal recessive spinocerebellar ataxia 2, 213200 to Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200
Ataxia - paediatric v0.336 PMPCA Zornitza Stark Publications for gene: PMPCA were set to
Ataxia - paediatric v0.335 PMPCA Zornitza Stark reviewed gene: PMPCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25808372, 26657514, 33272776, 30617178; Phenotypes: Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.335 PMPCA Zornitza Stark Phenotypes for gene: PMPCA were changed from Autosomal recessive spinocerebellar ataxia 2, 213200; Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families. to Autosomal recessive spinocerebellar ataxia 2, 213200
Ataxia - paediatric v0.334 PRKCG Zornitza Stark Marked gene: PRKCG as ready
Ataxia - paediatric v0.334 PRKCG Zornitza Stark Gene: prkcg has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.334 PRKCG Zornitza Stark Classified gene: PRKCG as Amber List (moderate evidence)
Ataxia - paediatric v0.334 PRKCG Zornitza Stark Gene: prkcg has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.333 PRKCG Zornitza Stark gene: PRKCG was added
gene: PRKCG was added to Ataxia - paediatric. Sources: Expert Review
Mode of inheritance for gene: PRKCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKCG were set to 34292398
Phenotypes for gene: PRKCG were set to Spinocerebellar ataxia 14, MIM# 605361
Review for gene: PRKCG was set to AMBER
Added comment: Typically adult onset, but note two individuals reported with severe paediatric onset.
Sources: Expert Review
Ataxia - paediatric v0.332 CACNA2D2 Ain Roesley Marked gene: CACNA2D2 as ready
Ataxia - paediatric v0.332 CACNA2D2 Ain Roesley Gene: cacna2d2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.332 CACNA2D2 Ain Roesley Classified gene: CACNA2D2 as Green List (high evidence)
Ataxia - paediatric v0.332 CACNA2D2 Ain Roesley Gene: cacna2d2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.331 CACNA2D2 Ain Roesley gene: CACNA2D2 was added
gene: CACNA2D2 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: CACNA2D2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA2D2 were set to 23339110; 24358150; 30410802; 29997391; 31402629
Phenotypes for gene: CACNA2D2 were set to Cerebellar atrophy with seizures and variable developmental delay MIM#618501
Review for gene: CACNA2D2 was set to GREEN
gene: CACNA2D2 was marked as current diagnostic
Added comment: 4 out of 6 families reported individuals <1 years old with ataxia
Sources: Literature
Ataxia - paediatric v0.330 SUFU Alison Yeung Marked gene: SUFU as ready
Ataxia - paediatric v0.330 SUFU Alison Yeung Gene: sufu has been classified as Green List (High Evidence).
Ataxia - paediatric v0.330 SUFU Alison Yeung Classified gene: SUFU as Green List (high evidence)
Ataxia - paediatric v0.330 SUFU Alison Yeung Added comment: Comment on list classification: Associated with paediatric-onset ataxia with oculomotor apraxia
Ataxia - paediatric v0.330 SUFU Alison Yeung Gene: sufu has been classified as Green List (High Evidence).
Ataxia - paediatric v0.329 SUFU Alison Yeung gene: SUFU was added
gene: SUFU was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: SUFU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SUFU were set to 33024317
Phenotypes for gene: SUFU were set to congenital ocular motor apraxia (forme fruste of Joubert syndrome)
Review for gene: SUFU was set to GREEN
gene: SUFU was marked as current diagnostic
Added comment: Clinical features include congenital oculomotor apraxia, hypotonia, ataxia and mild DD, and only a third manifested intellectual disability of variable severity. Brain MRI shows consistent findings characterised by vermis hypoplasia, superior cerebellar dysplasia and subtle-to-mild abnormalities of the superior cerebellar peduncles.

SUFU-associated Basal cell nevus syndrome (Gorlin) are likely allelic disorders, as there is currently no convincing evidence for a clinical overlap.
Sources: Literature
Ataxia - paediatric v0.328 KCND3 Zornitza Stark Marked gene: KCND3 as ready
Ataxia - paediatric v0.328 KCND3 Zornitza Stark Gene: kcnd3 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.328 KCND3 Zornitza Stark Classified gene: KCND3 as Green List (high evidence)
Ataxia - paediatric v0.328 KCND3 Zornitza Stark Gene: kcnd3 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.327 KCND3 Zornitza Stark gene: KCND3 was added
gene: KCND3 was added to Ataxia - paediatric. Sources: Expert Review
Mode of inheritance for gene: KCND3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCND3 were set to 32823520
Phenotypes for gene: KCND3 were set to Spinocerebellar ataxia 19, MIM# 607346
Review for gene: KCND3 was set to GREEN
Added comment: Variable age of symptom onset, including paediatric. Reviewed in PMID 32823520.
Sources: Expert Review
Ataxia - paediatric v0.326 ATP6V0A1 Zornitza Stark Marked gene: ATP6V0A1 as ready
Ataxia - paediatric v0.326 ATP6V0A1 Zornitza Stark Gene: atp6v0a1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.326 ATP6V0A1 Zornitza Stark Classified gene: ATP6V0A1 as Green List (high evidence)
Ataxia - paediatric v0.326 ATP6V0A1 Zornitza Stark Gene: atp6v0a1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.325 ATP6V0A1 Chern Lim gene: ATP6V0A1 was added
gene: ATP6V0A1 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: ATP6V0A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATP6V0A1 were set to PMID:34909687
Phenotypes for gene: ATP6V0A1 were set to Neurodevelopmental disorder, MONDO:0700092, ATP6V0A1-associated
Review for gene: ATP6V0A1 was set to GREEN
gene: ATP6V0A1 was marked as current diagnostic
Added comment: PMID: 34909687
- 17 individuals from 14 unrelated families: 5 affected individuals with biallelic variants, presented with early-onset progressive myoclonus epilepsy with ataxia; 12 individuals carried de novo missense variants and showed severe developmental and epileptic encephalopathy.
- The mean age of onset was 11.8+/-7.5 years for individuals carrying the compound heterozygous variants and 5.8+/-4.2 months for individuals with the de novo variants.
- The R740Q variant, which alone accounts for ~50% of the mutations identified among our cases, leads to failure of lysosomal hydrolysis by directly impairing acidification of the endolysosomal compartment, causing autophagic dysfunction and severe developmental defect in C. elegans.
Sources: Literature
Ataxia - paediatric v0.325 WARS2 Zornitza Stark Marked gene: WARS2 as ready
Ataxia - paediatric v0.325 WARS2 Zornitza Stark Gene: wars2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.325 WARS2 Zornitza Stark Classified gene: WARS2 as Green List (high evidence)
Ataxia - paediatric v0.325 WARS2 Zornitza Stark Gene: wars2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.324 WARS2 Zornitza Stark gene: WARS2 was added
gene: WARS2 was added to Ataxia - paediatric. Sources: Expert Review
Mode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WARS2 were set to 29120065; 31970218; 34890876; 28236339; 28650581; 28905505; 30920170
Phenotypes for gene: WARS2 were set to Parkinsonism-dystonia 3, childhood-onset, MIM# 619738; Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM# 617710
Review for gene: WARS2 was set to GREEN
Added comment: Childhood-onset parkinsonism-dystonia-3 (PKDYS3) is an autosomal recessive neurodegenerative disorder with onset in infancy or early childhood. Affected individuals present with progressive movement abnormalities, including parkinsonism with tremor, dystonia, myoclonus ataxia, and hyperkinetic movements such as ballismus. The parkinsonism features may be responsive to treatment with levodopa, although many patients develop levodopa-induced dyskinesia. Some patients may have mild cognitive impairment or psychiatric disturbances. 8 individuals from 4 families reported.

NEMMLAS is an autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity. Patient tissues may show deficiencies in one or more of the mitochondrial oxidative phosphorylation (OXPHOS) enzymes, but this is not a constant finding. 12 individuals from 8 unrelated families reported.

It is unclear whether these are two distinct disorders or whether they represent a spectrum of severity for a single condition.
Sources: Expert Review
Ataxia - paediatric v0.323 KCNN2 Zornitza Stark Phenotypes for gene: KCNN2 were changed from Neurodevelopmental disorder; Ataxia to Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725
Ataxia - paediatric v0.322 KCNN2 Zornitza Stark reviewed gene: KCNN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - paediatric v0.322 TBCE Zornitza Stark Marked gene: TBCE as ready
Ataxia - paediatric v0.322 TBCE Zornitza Stark Gene: tbce has been classified as Green List (High Evidence).
Ataxia - paediatric v0.322 PIK3R5 Zornitza Stark Marked gene: PIK3R5 as ready
Ataxia - paediatric v0.322 PIK3R5 Zornitza Stark Gene: pik3r5 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.322 PIGS Zornitza Stark Marked gene: PIGS as ready
Ataxia - paediatric v0.322 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Ataxia - paediatric v0.322 PIGS Zornitza Stark Publications for gene: PIGS were set to PubMed: 30269814, 33410539
Ataxia - paediatric v0.321 NUBPL Zornitza Stark Marked gene: NUBPL as ready
Ataxia - paediatric v0.321 NUBPL Zornitza Stark Gene: nubpl has been classified as Green List (High Evidence).
Ataxia - paediatric v0.321 NUBPL Zornitza Stark Publications for gene: NUBPL were set to PubMed: 23553477, 32518176,
Ataxia - paediatric v0.320 NOVA2 Zornitza Stark Marked gene: NOVA2 as ready
Ataxia - paediatric v0.320 NOVA2 Zornitza Stark Gene: nova2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.320 TBCE Chirag Patel Classified gene: TBCE as Green List (high evidence)
Ataxia - paediatric v0.320 TBCE Chirag Patel Gene: tbce has been classified as Green List (High Evidence).
Ataxia - paediatric v0.319 TBCE Chirag Patel gene: TBCE was added
gene: TBCE was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBCE were set to PubMed: 27666369
Phenotypes for gene: TBCE were set to Encephalopathy, progressive, with amyotrophy and optic atrophy, OMIM #617207
Review for gene: TBCE was set to GREEN
Added comment: 5 patients from 3 unrelated Italian families with progressive encephalopathy with amyotrophy and optic atrophy (PEAMO), and biallelic variants in TCBE gene (WES or Sanger). PEAMO is a severe autosomal recessive neurodegenerative disorder characterized by delayed development with hypotonia apparent in infancy and subsequent motor regression. Most affected individuals are unable to or lose the ability to sit and show distal amyotrophy and weakness of all 4 limbs. The patients are cognitively impaired and unable to speak or have severe dysarthria. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy.
Sources: Literature
Ataxia - paediatric v0.318 PIK3R5 Chirag Patel gene: PIK3R5 was added
gene: PIK3R5 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: PIK3R5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIK3R5 were set to PubMed: 22065524
Phenotypes for gene: PIK3R5 were set to Ataxia-oculomotor apraxia 3, OMIM #615217
Review for gene: PIK3R5 was set to RED
Added comment: Al Tassan et al. (2012) reported 4 sibs, from consanguineous Saudi Arabian family, with ataxia-oculomotor apraxia. The proband developed progressive unsteady gait and had frequent falls at age 14 years with later onset of arm dysmetria and dysarthria. He became wheelchair-bound at age 23. Ocular movement was impaired, with slowed saccadic eye movements and head-eye lag resulting in head thrust, but smooth pursuit was normal. He had severe limb and axial dysmetria with mild distal atrophy and weakness affecting the lower limbs more than the upper limbs. He also had distal sensory impairment, more prominent in the lower limbs, areflexia, and axonal sensory polyneuropathy with absent sensory nerve action potentials in the lower limbs. Laboratory studies showed increased level of alpha-fetoprotein, and brain MRI showed atrophy of the cerebellar folia and vermis. His 3 sibs were similarly affected. A homozygous mutation in the PIK3R5 gene (P629S) was found by linkage analysis followed by sequencing of the genes within the region.
Sources: Literature
Ataxia - paediatric v0.317 PIGS Chirag Patel Classified gene: PIGS as Green List (high evidence)
Ataxia - paediatric v0.317 PIGS Chirag Patel Gene: pigs has been classified as Green List (High Evidence).
Ataxia - paediatric v0.316 PIGS Chirag Patel gene: PIGS was added
gene: PIGS was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGS were set to PubMed: 30269814, 33410539
Phenotypes for gene: PIGS were set to Developmental and epileptic encephalopathy 95, OMIM # 618143
Review for gene: PIGS was set to GREEN
Added comment: DEE95 is a severe autosomal recessive developmental disorder characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures. Mutiple patients reported with biallelic variants. Some functional evidence with decreased levels of GPI-anchored proteins compared to controls.
Sources: Literature
Ataxia - paediatric v0.315 NUBPL Chirag Patel Classified gene: NUBPL as Green List (high evidence)
Ataxia - paediatric v0.315 NUBPL Chirag Patel Gene: nubpl has been classified as Green List (High Evidence).
Ataxia - paediatric v0.314 NUBPL Chirag Patel gene: NUBPL was added
gene: NUBPL was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUBPL were set to PubMed: 23553477, 32518176,
Phenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency, nuclear type 21, OMIM # 618242
Review for gene: NUBPL was set to GREEN
Added comment: Many patients reported with biallelic variants in gene with mitochondrial complex I deficiency. Presents with various neurodevelopmental issues including ataxia.
Sources: Literature
Ataxia - paediatric v0.313 NOVA2 Chirag Patel Classified gene: NOVA2 as Green List (high evidence)
Ataxia - paediatric v0.313 NOVA2 Chirag Patel Gene: nova2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.313 NOVA2 Chirag Patel Classified gene: NOVA2 as Green List (high evidence)
Ataxia - paediatric v0.313 NOVA2 Chirag Patel Gene: nova2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.312 NOVA2 Chirag Patel gene: NOVA2 was added
gene: NOVA2 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOVA2 were set to PMID: 32197073
Phenotypes for gene: NOVA2 were set to Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM #618859
Review for gene: NOVA2 was set to GREEN
Added comment: Six individuals with de novo frameshift variants resulting in C-terminal extension suggesting partial LoF as mechanism. Early-onset neurologic disorder characterized by global developmental delay, poor or absent speech and language development, and behavioral abnormalities reminiscent of autism spectrum disorder. Additional features may include poor overall growth with small head circumference, axial hypotonia, spasticity, and seizures. Some patients have abnormal findings on brain imaging, including cerebral atrophy, cerebellar atrophy, and/or thin corpus callosum.
Sources: Literature
Ataxia - paediatric v0.311 BRAT1 Zornitza Stark Marked gene: BRAT1 as ready
Ataxia - paediatric v0.311 BRAT1 Zornitza Stark Gene: brat1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.311 BRAT1 Zornitza Stark Publications for gene: BRAT1 were set to PMID: 26483087, 26494257, 27282546
Ataxia - paediatric v0.310 BRAT1 Zornitza Stark reviewed gene: BRAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.310 CHP1 Zornitza Stark Marked gene: CHP1 as ready
Ataxia - paediatric v0.310 CHP1 Zornitza Stark Gene: chp1 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.310 CHP1 Zornitza Stark Publications for gene: CHP1 were set to PMID: 29379881, 32787936
Ataxia - paediatric v0.309 CHP1 Zornitza Stark Classified gene: CHP1 as Amber List (moderate evidence)
Ataxia - paediatric v0.309 CHP1 Zornitza Stark Gene: chp1 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.308 CHP1 Zornitza Stark reviewed gene: CHP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia 9, autosomal recessive, OMIM #618438; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.308 CHP1 Chirag Patel Classified gene: CHP1 as Green List (high evidence)
Ataxia - paediatric v0.308 CHP1 Chirag Patel Gene: chp1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.307 CHP1 Chirag Patel gene: CHP1 was added
gene: CHP1 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: CHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHP1 were set to PMID: 29379881, 32787936
Phenotypes for gene: CHP1 were set to Spastic ataxia 9, autosomal recessive, OMIM #618438
Review for gene: CHP1 was set to GREEN
Added comment: 2 different consanguineous families with 2 affected siblings with ataxia (1 paediatric onset, 1 adult onset). 3 of the patients had cerebellar atrophy. WES identified homozygous variants in CHP1 gene in both families (K19del and Arg91Cys), which segregated with the disorder in the family.

Decreased CHP1 protein on IHC of cerebellar tissue in family with Arg91Cys variant. In vitro functional expression studies in HEK293 cells showed that the K19del mutation resulted in decreased protein expression, with normal levels of transcript, suggesting defects in protein stability. The mutant protein formed massive protein aggregates in transfected neuronal cell bodies and neurite-like projections, whereas the wildtype protein showed a more uniform distribution. The mutant protein altered CHP1 association into functional complexes and impaired membrane localization of the Na+/H+ transporter NHE1. The findings indicated that the CHP1 mutation likely causes ataxia in an NHE1-dependent manner, resembling the mechanism observed in the Chp1 vacillator mutant mouse.
Sources: Literature
Ataxia - paediatric v0.306 BRAT1 Chirag Patel Classified gene: BRAT1 as Green List (high evidence)
Ataxia - paediatric v0.306 BRAT1 Chirag Patel Gene: brat1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.306 BRAT1 Chirag Patel Classified gene: BRAT1 as Green List (high evidence)
Ataxia - paediatric v0.306 BRAT1 Chirag Patel Gene: brat1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.305 BRAT1 Chirag Patel gene: BRAT1 was added
gene: BRAT1 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRAT1 were set to PMID: 26483087, 26494257, 27282546
Phenotypes for gene: BRAT1 were set to Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056
Review for gene: BRAT1 was set to GREEN
Added comment: At least 4 individuals reported from unrelated families and bi-allelic variants in this gene.
Sources: Literature
Ataxia - paediatric v0.304 RNF220 Zornitza Stark Phenotypes for gene: RNF220 were changed from Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum to Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688; Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum
Ataxia - paediatric v0.303 RNF220 Zornitza Stark edited their review of gene: RNF220: Changed phenotypes: Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688, Leukodystrophy, CNS hypomyelination, Ataxia, Intellectual disability, Sensorineural hearing impairment, Elevated hepatic transaminases, Hepatic fibrosis, Dilated cardiomyopathy, Spastic paraplegia, Dysarthria, Abnormality of the corpus callosum
Ataxia - paediatric v0.303 GEMIN5 Zornitza Stark Marked gene: GEMIN5 as ready
Ataxia - paediatric v0.303 GEMIN5 Zornitza Stark Gene: gemin5 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.303 GEMIN5 Zornitza Stark Publications for gene: GEMIN5 were set to PMID: 34569062, 33963192
Ataxia - paediatric v0.302 GEMIN5 Chirag Patel Classified gene: GEMIN5 as Green List (high evidence)
Ataxia - paediatric v0.302 GEMIN5 Chirag Patel Gene: gemin5 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.301 GEMIN5 Chirag Patel gene: GEMIN5 was added
gene: GEMIN5 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: GEMIN5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GEMIN5 were set to PMID: 34569062, 33963192
Phenotypes for gene: GEMIN5 were set to Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM # 619333
Review for gene: GEMIN5 was set to GREEN
Added comment: Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) is an autosomal recessive disorder characterized by global developmental delay with prominent motor abnormalities, mainly axial hypotonia, gait ataxia, and appendicular spasticity. Affected individuals have cognitive impairment and speech delay; brain imaging shows cerebellar atrophy. 30 individuals from 22 unrelated families reported by Kour et al (2021).

Saida et al (2021) report compound heterozygous GEMIN5 variants in 2 individuals with cerebellar atrophy/hypoplasia. Three novel truncating variants and one previously reported missense variant were identified. Western blotting analysis using lymphoblastoid cell lines derived from both affected individuals showed significantly reduced levels of GEMIN5 protein. Zebrafish model for null variants p.(Arg733Thrfs*6) and p.(Ala1305Leufs*14) exhibited complete lethality at 2 weeks and recapitulated a distinct dysplastic phenotype.
Sources: Literature
Ataxia - paediatric v0.300 APTX Zornitza Stark Marked gene: APTX as ready
Ataxia - paediatric v0.300 APTX Zornitza Stark Gene: aptx has been classified as Green List (High Evidence).
Ataxia - paediatric v0.300 APTX Zornitza Stark Phenotypes for gene: APTX were changed from Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; Ataxia with Oculomotor Apraxia; Early onset ataxia with oculomotor apraxia and hypoalbuminemia to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920
Ataxia - paediatric v0.299 APTX Zornitza Stark Publications for gene: APTX were set to
Ataxia - paediatric v0.298 APTX Zornitza Stark reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: None; Publications: 30986824, 26256098, 11586299; Phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.298 DHDDS Zornitza Stark Marked gene: DHDDS as ready
Ataxia - paediatric v0.298 DHDDS Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence).
Ataxia - paediatric v0.298 DHDDS Zornitza Stark Classified gene: DHDDS as Green List (high evidence)
Ataxia - paediatric v0.298 DHDDS Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence).
Ataxia - paediatric v0.297 DHDDS Zornitza Stark gene: DHDDS was added
gene: DHDDS was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: DHDDS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DHDDS were set to 29100083; 33798445; 34182312; 34382076
Phenotypes for gene: DHDDS were set to Developmental delay and seizures with or without movement abnormalities, OMIM:617836
Review for gene: DHDDS was set to GREEN
Added comment: Monoallelic variants are associated with a neurodevelopmental disorder comprising infantile or childhood-onset DD/ID, epilepsy and a variable movement phenotype which typically initially manifests as action myoclonus/cortical tremor and in some cases ataxia - at least 11 unrelated cases of ataxia reported in literature.
Sources: Literature
Ataxia - paediatric v0.296 COQ4 Zornitza Stark Marked gene: COQ4 as ready
Ataxia - paediatric v0.296 COQ4 Zornitza Stark Gene: coq4 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.296 COQ4 Zornitza Stark Classified gene: COQ4 as Green List (high evidence)
Ataxia - paediatric v0.296 COQ4 Zornitza Stark Gene: coq4 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.295 COQ4 Zornitza Stark gene: COQ4 was added
gene: COQ4 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ4 were set to 30225196; 33704555; 30847826
Phenotypes for gene: COQ4 were set to Coenzyme Q10 deficiency, primary, 7, MIM# 616276; Childhood-onset ataxia
Review for gene: COQ4 was set to GREEN
Added comment: At least 6 individuals from 4 families reported as having ataxia.
Sources: Literature
Ataxia - paediatric v0.294 EXOSC5 Zornitza Stark Phenotypes for gene: EXOSC5 were changed from Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia to Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576; Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia
Ataxia - paediatric v0.293 EXOSC5 Zornitza Stark edited their review of gene: EXOSC5: Changed phenotypes: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576, Short stature, Motor developmental delays, Cerebellar hypoplasia, Ataxia
Ataxia - paediatric v0.293 DAB1 Zornitza Stark Marked gene: DAB1 as ready
Ataxia - paediatric v0.293 DAB1 Zornitza Stark Gene: dab1 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.293 DAB1 Zornitza Stark Classified gene: DAB1 as Red List (low evidence)
Ataxia - paediatric v0.293 DAB1 Zornitza Stark Gene: dab1 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.292 DAB1 Zornitza Stark reviewed gene: DAB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia, Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.292 DAB1 Daniel Flanagan gene: DAB1 was added
gene: DAB1 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: DAB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAB1 were set to PMID: 33928188
Phenotypes for gene: DAB1 were set to epilepsy; developmental delay; cerebellar ataxia; structural brain abnormalities; oral motor difficulty
Penetrance for gene: DAB1 were set to unknown
Review for gene: DAB1 was set to AMBER
Added comment: WES trio analysis identified compound heterozygous DAB1 canonical splice variants in a child with epilepsy (onset 6 years), developmental delay, cerebellar ataxia, oral motor difficulty, and structural brain abnormalities. RT-PCR confirms that the first variant (c.307-2A>T) causes a in-frame deletion of 3 amino acids. The second variant (c.67+1G>T) is reported to causes an in-frame deletion of exon 4 (first coding exon) and loss of the ATG initiation site.
Sources: Literature
Ataxia - paediatric v0.292 RFXANK Zornitza Stark Marked gene: RFXANK as ready
Ataxia - paediatric v0.292 RFXANK Zornitza Stark Gene: rfxank has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.292 RFXANK Zornitza Stark Classified gene: RFXANK as Amber List (moderate evidence)
Ataxia - paediatric v0.292 RFXANK Zornitza Stark Gene: rfxank has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.291 RFXANK Elena Savva gene: RFXANK was added
gene: RFXANK was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: RFXANK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFXANK were set to PMID: 33855173; 23314770; 28676232
Phenotypes for gene: RFXANK were set to Progressive Ataxia and Neurologic Regression; MHC class II deficiency, complementation group B MIM#209920
Review for gene: RFXANK was set to AMBER
Added comment: PMID: 33855173 - 1 family (2 affecteds, 3rd not sequenced) with a homozygous c.271+1G>C splice variant, late-onset immunodeficiency and subacute progressive neurodegenerative disease, including cognition, motor, visual and cerebellar features. MRI demonstrated global cerebral and cerebellar atrophy.

PMID: 23314770 - 1/34 MHCII deficient patients with biallelic variants reported with ataxia. Majority of patients (including patient with ataxia) share a founder variant (c.338-25_338del26).

PMID: 28676232 - single 30 month old patient with ataxic gait and dysarthria and a homozygous PTC.

Summary: 3 patients but uncommon feature, variable expressivity
Sources: Literature
Ataxia - paediatric v0.291 RNF220 Zornitza Stark Marked gene: RNF220 as ready
Ataxia - paediatric v0.291 RNF220 Zornitza Stark Gene: rnf220 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.291 RNF220 Zornitza Stark Classified gene: RNF220 as Green List (high evidence)
Ataxia - paediatric v0.291 RNF220 Zornitza Stark Gene: rnf220 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.290 RNF220 Zornitza Stark gene: RNF220 was added
gene: RNF220 was added to Ataxia - paediatric. Sources: Literature
founder tags were added to gene: RNF220.
Mode of inheritance for gene: RNF220 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNF220 were set to 33964137; 10881263
Phenotypes for gene: RNF220 were set to Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum
Review for gene: RNF220 was set to GREEN
Added comment: Sferra et al (2021 - PMID: 33964137) provide extensive evidence that biallelic RNF220 mutations cause a disorder characterized by hypomyelinating leukodystrophy, ataxia (9/9 - onset 1-5y), borderline intellectual functioning (3/9) / intellectual disability (5/9 - in most cases mild), sensorineural deafness (9/9) with complete hearing loss in the first decade of life, hepatopathy (9/9) with associated periportal fibrosis, and dilated cardiomyopathy (9/9) which was fatal.

Other neurologic manifestations apart from ataxia incl. hyperreflexia (8/8), spastic paraplegia (9/9), dysarthria (9/9), peripheral neuropathy (4/9), seizures in one case (1/9). Upon brain MRI there was thin corpus callosum (9/9) or cerebellar atrophy in some (2/9).

The authors identified homozygosity for 2 recurrent missense RNF220 variants in affected members belonging to these 5 broad consanguineous pedigrees (7 families), namely NM_018150.4:c.1094G>A / p.Arg365Gly in 4 Roma families in the context of a shared haplotype (/founder effect) as well as c.1088G>A / p.Arg363Gly in a large pedigree from southern Italy initially reported by Leuzzi et al (2000 - PMID: 10881263).

Extensive segregation analyses were carried out including several affected and unaffected members.

RNF220 encodes ring finger protein 220, which functions as an E3 ubiquitin ligase. Previous studies have shown among others a role in modulation of Sonic hedgehog/GLI signaling and cerebellar development

Evidence for the role of RNF220 included relevant expression, localization within the cell, interaction partners (lamin B1, 20S proteasome), similarities with other laminopathies in terms of phenotype, etc :
*RNF220 has a relevant expression pattern in CNS (based on qRT-PCR analyses in human brain, cerebellum, cerebral cortex / mRNA levels in human fetal CNS with higher expression in cerebellum, spinal cord and cortex / previous GTEx data / protein levels in mouse CNS)
*The protein displays nuclear localization based on iPSC cells differentiated to motor neurons (also supported by data from the Human Protein Atlas). Transfection of COS-1 cells demonstrated localization primarily to the nucleus (as also previously demonstrated in HEK293T cells) in vesicle like structures with ASF2/SF2 colocalization suggesting enrichment in nuclear speckles. There was also partial co-distribution with the 20S proteasome. R363Q and R365Q additionally coalesced in the cytoplasm forming protein aggregates/inclusions.
*Immunofluorescence studies in patient fibroblasts also confirmed abnormal increase of the protein in the cytoplasm and increased fluorescence with the 20S proteasome.
*Proteomic identification of RNF220-interacting proteins in transfected HEK293T cells demonstrated enrichment for all members of the lamin protein family (incl . lamin B1, AC, B2).
*RNAi-mediated downregulation of RNF222 in Drosophila suggested altered subcellular localization and accumulation of the fly orthologue for human lamin B1.
*Immunoprecipitation of lamin B1 from the nuclear matrix of cerebellar cells suggested significant interaction of endogenous lamin B1 with RNF220, while transfection studies in HEK293T cells for wt/mt suggested reduced binding to endogenous lamin B1 for RNF220 mt compared to wt (more prominent for R365Q). RNF220 mutants also reduced ubiquitination of nuclear lamin B1 compared to wt.
*Patient fibroblasts immunostained with different nuclear envelope markers displayed abnormal nuclear shapes with multiple invaginations and lobulations, findings also observed in laminopathies.
Sources: Literature
Ataxia - paediatric v0.289 PRDX3 Zornitza Stark Marked gene: PRDX3 as ready
Ataxia - paediatric v0.289 PRDX3 Zornitza Stark Gene: prdx3 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.289 PRDX3 Zornitza Stark Classified gene: PRDX3 as Green List (high evidence)
Ataxia - paediatric v0.289 PRDX3 Zornitza Stark Gene: prdx3 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.288 PRDX3 Zornitza Stark gene: PRDX3 was added
gene: PRDX3 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: PRDX3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDX3 were set to 33889951
Phenotypes for gene: PRDX3 were set to Cerebellar ataxia (early onset, mild to moderate, progressive)
Review for gene: PRDX3 was set to GREEN
Added comment: Biallelic variants in 5 unrelated families with early onset (median 21 years , range 13-22 years) with ataxia with variable additional hyper- and hypokinetic movement disorders, and severe early-onset cerebellar atrophy (seen on MRI), and involvement of the brainstem, medullary olive and parietal cortex.

Evolution of the disease was gait ataxia leading to upper limb ataxia, then dysarthria and then dysphagia, all within a decade. For some of these patients, the phenotype included myoclonus, dystonia and / or tremor. Mild classical mitochondrial features were seen in one of the patients, namely ptosis and COX-negative fibres.

The variants were homozygous nonsense, homozygous frameshift, homozygous missense, and a compound heterozygote with a splice variant and missense, all leading to complete loss of the protein. Oxidative stress and mitochondrial dysfunction was indicated as the disease mechanism.

The families originated from Germany, France, India and two from eastern Turkey. The two families from Turkey were seemingly unrelated to each other but had the same homozygous missense.

Patient fibroblasts from each of the five probands showed lack of protein (via Western blot) and decreased glutathione peroxidase activity and decreased mitochondrial maximal respiratory capacity.

PRDX3 encodes peroxiredoxin 3, a mitochondrial antioxidant protein, that catalyses the reduction of hydrogen peroxide. It localises in the mitochondria, where most hydrogen peroxide is generated.

Functional studies: PRDX3 knockdown (induced by silencing RNA against PRDX3) in cerebellar medulloblastoma cells showed significantly decreased cell viability, increased hydrogen peroxide levels and increased susceptibility to apoptosis triggered by reactive oxygen species.

In addition, induced knockdown drosophila (in vivo animal model) had aberrant locomotor phenotypes and reduced lifespans, while immunolabelling of the brain showed increased cell death after exposure to oxidative stress.
Sources: Literature
Ataxia - paediatric v0.287 ATG7 Zornitza Stark Marked gene: ATG7 as ready
Ataxia - paediatric v0.287 ATG7 Zornitza Stark Gene: atg7 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.287 ATG7 Zornitza Stark Classified gene: ATG7 as Green List (high evidence)
Ataxia - paediatric v0.287 ATG7 Zornitza Stark Gene: atg7 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.286 ATG7 Zornitza Stark gene: ATG7 was added
gene: ATG7 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: ATG7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG7 were set to 34161705
Phenotypes for gene: ATG7 were set to Spinocerebellar ataxia, SCAR31, MIM#619422
Review for gene: ATG7 was set to GREEN
Added comment: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The ore severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model.
Sources: Literature
Ataxia - paediatric v0.285 PITRM1 Zornitza Stark Phenotypes for gene: PITRM1 were changed from Cerebellar atrophy; mental retardation; spinocerebellar ataxia; cognitive decline; psychosis to Spinocerebellar ataxia-30 (SCAR30), MIM#619405; intellectual disability; cognitive decline; psychosis
Ataxia - paediatric v0.284 PITRM1 Zornitza Stark edited their review of gene: PITRM1: Changed phenotypes: Spinocerebellar ataxia-30 (SCAR30), MIM#619405, intellectual disability, cognitive decline, psychosis
Ataxia - paediatric v0.284 VPS41 Zornitza Stark Phenotypes for gene: VPS41 were changed from Dystonia; intellectual disability; ataxia; cerebellar atrophy to Spinocerebellar ataxia-29 (SCAR29), MIM#619389; Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay
Ataxia - paediatric v0.283 VPS41 Zornitza Stark edited their review of gene: VPS41: Changed phenotypes: Spinocerebellar ataxia-29 (SCAR29), MIM#619389, Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay
Ataxia - paediatric v0.283 POU4F1 Zornitza Stark reviewed gene: POU4F1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Childhood-onset ataxia, intention tremor, and hypotonia syndrome (ATITHS) , MIM#619352; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - paediatric v0.283 UBTF Zornitza Stark Phenotypes for gene: UBTF were changed from Neurodegeneration, childhood-onset, with brain atrophy MIM#617672 to Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; MONDO:0044701
Ataxia - paediatric v0.282 POU4F1 Bryony Thompson Marked gene: POU4F1 as ready
Ataxia - paediatric v0.282 POU4F1 Bryony Thompson Gene: pou4f1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.282 POU4F1 Bryony Thompson Classified gene: POU4F1 as Green List (high evidence)
Ataxia - paediatric v0.282 POU4F1 Bryony Thompson Gene: pou4f1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.281 POU4F1 Bryony Thompson gene: POU4F1 was added
gene: POU4F1 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: POU4F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POU4F1 were set to 33783914; 8876243
Phenotypes for gene: POU4F1 were set to Ataxia; intention tremor; hypotonia
Review for gene: POU4F1 was set to GREEN
Added comment: 4 unrelated probands presenting with paediatric onset ataxia, intention tremor, and hypotonia, with de novo loss of function variants, and supporting null mouse model.
Sources: Literature
Ataxia - paediatric v0.280 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from Hereditary motor and sensory neuropathy type VIB, MIM#616505 to Hereditary motor and sensory neuropathy type VIB, MIM#616505; Pontocerebellar hypoplasia, type 1E, MIM# 619303
Ataxia - paediatric v0.279 SLC25A46 Zornitza Stark changed review comment from: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus.

At least 10 unrelated families reported, supportive functional data.; to: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus. New PCH disease entity added by OMIM in 2021 to reflect the more severe end of the spectrum.

At least 10 unrelated families reported, supportive functional data.
Ataxia - paediatric v0.279 SLC25A46 Zornitza Stark edited their review of gene: SLC25A46: Changed phenotypes: Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505, Pontocerebellar hypoplasia, type 1E, MIM# 619303
Ataxia - paediatric v0.279 VPS41 Zornitza Stark Marked gene: VPS41 as ready
Ataxia - paediatric v0.279 VPS41 Zornitza Stark Gene: vps41 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.279 VPS41 Zornitza Stark Classified gene: VPS41 as Green List (high evidence)
Ataxia - paediatric v0.279 VPS41 Zornitza Stark Gene: vps41 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.278 VPS41 Zornitza Stark gene: VPS41 was added
gene: VPS41 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: VPS41 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS41 were set to 32808683; 33764426
Phenotypes for gene: VPS41 were set to Dystonia; intellectual disability; ataxia; cerebellar atrophy
Review for gene: VPS41 was set to GREEN
Added comment: 10 individuals from 6 unrelated families reported with a progressive neurodevelopmental disorder. Affected individuals were born after uneventful pregnancies and presented in most cases early in life with developmental delay. Various degrees of ataxia, hypotonia, and dystonia developed in all affected individuals, preventing independent ambulation. Likewise, nystagmus was commonly described. In addition, all affected individuals displayed intellectual disability and speech delay, and one sib pair had treatment-resistant epilepsy. Brain MRI revealed mild cerebellar atrophy and vermian atrophy without other major structural abnormalities in most affected individuals.
Sources: Literature
Ataxia - paediatric v0.277 ATCAY Zornitza Stark Phenotypes for gene: ATCAY were changed from Ataxia, cerebellar, Cayman type, MIM# 601238 to Ataxia, cerebellar, Cayman type, MIM# 601238; MONDO:0011025
Ataxia - paediatric v0.276 ATCAY Zornitza Stark Publications for gene: ATCAY were set to 14556008
Ataxia - paediatric v0.275 ATCAY Zornitza Stark Classified gene: ATCAY as Green List (high evidence)
Ataxia - paediatric v0.275 ATCAY Zornitza Stark Gene: atcay has been classified as Green List (High Evidence).
Ataxia - paediatric v0.274 ATCAY Sarah Leigh reviewed gene: ATCAY: Rating: GREEN; Mode of pathogenicity: None; Publications: 29449188, 23226316, 26343454; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.274 Zornitza Stark removed gene:SATB1 from the panel
Ataxia - paediatric v0.273 SATB1 Zornitza Stark Phenotypes for gene: SATB1 were changed from Neurodevelopmental disorder; Intellectual disability; Seizures; Microcephaly; Regression; Movement disorder, ataxia to Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Neurodevelopmental disorder; Intellectual disability; Seizures; Microcephaly; Regression; Movement disorder, ataxia
Ataxia - paediatric v0.272 SATB1 Zornitza Stark reviewed gene: SATB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - paediatric v0.272 SATB1 Zornitza Stark Marked gene: SATB1 as ready
Ataxia - paediatric v0.272 SATB1 Zornitza Stark Gene: satb1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.272 SATB1 Zornitza Stark Phenotypes for gene: SATB1 were changed from Neurodevelopmental disorders to Neurodevelopmental disorder; Intellectual disability; Seizures; Microcephaly; Regression; Movement disorder, ataxia
Ataxia - paediatric v0.271 SATB1 Zornitza Stark Classified gene: SATB1 as Green List (high evidence)
Ataxia - paediatric v0.271 SATB1 Zornitza Stark Gene: satb1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.270 KCNN2 Zornitza Stark Marked gene: KCNN2 as ready
Ataxia - paediatric v0.270 KCNN2 Zornitza Stark Gene: kcnn2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.270 KCNN2 Zornitza Stark Phenotypes for gene: KCNN2 were changed from neurodevelopmental movement disorders to Neurodevelopmental disorder; Ataxia
Ataxia - paediatric v0.269 KCNN2 Zornitza Stark Classified gene: KCNN2 as Green List (high evidence)
Ataxia - paediatric v0.269 KCNN2 Zornitza Stark Gene: kcnn2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.268 SATB1 Elena Savva gene: SATB1 was added
gene: SATB1 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: SATB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SATB1 were set to PMID: 33513338; 33057194
Phenotypes for gene: SATB1 were set to Neurodevelopmental disorders
Mode of pathogenicity for gene: SATB1 was set to Other
Review for gene: SATB1 was set to GREEN
Added comment: PMID: 33513338: 42 patients with SNVs. 28 de novo, 3 inherited from an affected parent.
Missense variants - more severe, profound ID
NMD PTCs - milder disease

Functional studies show missense variants have a STRONGER binding to downstream targets
Sources: Literature
Ataxia - paediatric v0.268 KCNN2 Ain Roesley gene: KCNN2 was added
gene: KCNN2 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: KCNN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNN2 were set to 33242881
Phenotypes for gene: KCNN2 were set to neurodevelopmental movement disorders
Penetrance for gene: KCNN2 were set to unknown
Review for gene: KCNN2 was set to GREEN
Added comment: - 11 probands all de novo except for 1 mother-daughter pair.
- a mix of null and missense variants
- 2/11 with microcephaly, 10/11 motor delay, 7/11 language delay (excluding 2 with regression), all with varying degrees of ID, 3/11 seizures, 7/11 movement disorder, 4/11 cerebellar ataxia, 6/11 MRI anomalies

additional variants were noted in 2 patients: 1x cHet for variants in MED12L and 1x de novo TNK2 variant

patch clamp functional studies were also done
Sources: Literature
Ataxia - paediatric v0.268 CBY1 Bryony Thompson Marked gene: CBY1 as ready
Ataxia - paediatric v0.268 CBY1 Bryony Thompson Gene: cby1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.268 CBY1 Bryony Thompson Classified gene: CBY1 as Green List (high evidence)
Ataxia - paediatric v0.268 CBY1 Bryony Thompson Gene: cby1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.267 CBY1 Bryony Thompson gene: CBY1 was added
gene: CBY1 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: CBY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBY1 were set to 33131181; 25103236; 25220153
Phenotypes for gene: CBY1 were set to intellectual disability; cerebellar ataxia; molar tooth sign; polydactyly; Joubert syndrome
Review for gene: CBY1 was set to GREEN
Added comment: Three cases in two unrelated consanguineous families with homozygous loss of function variants, with ataxia as a feature of the condition. Multiple null model organisms recapitulate the human phenotype: Null mouse model had cystic kidneys, a phenotype common to ciliopathies. Reducing Cby levels in Xenopus laevis model reduced the density of multiciliated cells, the number of basal bodies per multiciliated cell, and the numbers of neural tube primary cilia; it also led to abnormal development of the neural crest, central nervous system, and pronephros. Depletion of cby1 in zebrafish results in ciliopathy‐related phenotypes.
Sources: Literature
Ataxia - paediatric v0.266 MTCL1 Bryony Thompson Classified gene: MTCL1 as Green List (high evidence)
Ataxia - paediatric v0.266 MTCL1 Bryony Thompson Gene: mtcl1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.265 MTCL1 Bryony Thompson edited their review of gene: MTCL1: Added comment: A new report of another case with a homozygous loss of function variant and a similar phenotype to the previously reported early onset homozygous Polish case (2 independent cases), and the supporting null mouse model.; Changed rating: GREEN; Changed publications: 30548255, 28283581, 32961396; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.265 NUS1 Zornitza Stark Marked gene: NUS1 as ready
Ataxia - paediatric v0.265 NUS1 Zornitza Stark Gene: nus1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.265 NUS1 Zornitza Stark Phenotypes for gene: NUS1 were changed from Epilepsy, myoclonus, ataxia and scoliosis; ?Congenital disorder of glycosylation, type 1aa, 617082; Mental retardation, autosomal dominant 55, with seizures, 617831 to Epilepsy, myoclonus, ataxia and scoliosis; Mental retardation, autosomal dominant 55, with seizures, 617831
Ataxia - paediatric v0.264 NUS1 Zornitza Stark Classified gene: NUS1 as Green List (high evidence)
Ataxia - paediatric v0.264 NUS1 Zornitza Stark Gene: nus1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.263 NUS1 Elena Savva gene: NUS1 was added
gene: NUS1 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NUS1 were set to PMID: 31656175; 29100083
Phenotypes for gene: NUS1 were set to Epilepsy, myoclonus, ataxia and scoliosis; ?Congenital disorder of glycosylation, type 1aa, 617082; Mental retardation, autosomal dominant 55, with seizures, 617831
Review for gene: NUS1 was set to GREEN
Added comment: PMID: 31656175 - 2 unrelated patients with the same de novo splice variant and ataxia. Splice variant undergoes partial NMD.

PMID: 29100083 - 3 unrelated patients w/ 2 PTCs and an inframe exon 2 deletion. Only 1/3 was reported to have ataxia
Sources: Literature
Ataxia - paediatric v0.263 MAG Zornitza Stark Publications for gene: MAG were set to 32629324; 32340215
Ataxia - paediatric v0.262 MAG Zornitza Stark edited their review of gene: MAG: Added comment: Four more individuals reported with variable combinations of psychomotor delay, ataxia, eye movement abnormalities, spasticity, dystonia, and neuropathic symptoms.; Changed publications: 32629324, 32340215, 32629324; Changed phenotypes: Spastic paraplegia 75, autosomal recessive, MIM# 616680, Cerebellar ataxia, Oculomotor apraxia
Ataxia - paediatric v0.262 CAD Zornitza Stark Marked gene: CAD as ready
Ataxia - paediatric v0.262 CAD Zornitza Stark Gene: cad has been classified as Green List (High Evidence).
Ataxia - paediatric v0.262 CAD Chirag Patel Classified gene: CAD as Green List (high evidence)
Ataxia - paediatric v0.262 CAD Chirag Patel Gene: cad has been classified as Green List (High Evidence).
Ataxia - paediatric v0.261 CAD Chirag Patel gene: CAD was added
gene: CAD was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAD were set to PMID: 32820246
Phenotypes for gene: CAD were set to Epileptic encephalopathy, early infantile, 50; OMIM # 616457
Review for gene: CAD was set to GREEN
gene: CAD was marked as current diagnostic
Added comment: 2020 series: 6/20 patients reported had ataxia relating to cerebellar atrophy, which is an expansion to the phenotype.
Sources: Literature
Ataxia - paediatric v0.260 COQ5 Zornitza Stark Phenotypes for gene: COQ5 were changed from Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability to Coenzyme Q10 deficiency, primary 9, MIM#619028; Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability
Ataxia - paediatric v0.259 COQ5 Zornitza Stark edited their review of gene: COQ5: Changed phenotypes: Coenzyme Q10 deficiency, primary 9, MIM#619028, Cerebellar ataxia, encephalopathy, generalized tonic-clonic seizures, intellectual disability
Ataxia - paediatric v0.259 MAG Zornitza Stark Marked gene: MAG as ready
Ataxia - paediatric v0.259 MAG Zornitza Stark Gene: mag has been classified as Green List (High Evidence).
Ataxia - paediatric v0.259 MAG Zornitza Stark Classified gene: MAG as Green List (high evidence)
Ataxia - paediatric v0.259 MAG Zornitza Stark Gene: mag has been classified as Green List (High Evidence).
Ataxia - paediatric v0.258 MAG Zornitza Stark gene: MAG was added
gene: MAG was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: MAG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAG were set to 32629324; 32340215
Phenotypes for gene: MAG were set to Spastic paraplegia 75, autosomal recessive, MIM# 616680; Cerebellar ataxia; Oculomotor apraxia
Review for gene: MAG was set to GREEN
Added comment: At least 5 families reported where ataxia was a prominent feature.
Sources: Literature
Ataxia - paediatric v0.257 XRCC1 Zornitza Stark Tag founder tag was added to gene: XRCC1.
Ataxia - paediatric v0.257 UCHL1 Zornitza Stark changed review comment from: Ataxia is part of the phenotype.
Sources: Expert list; to: Ataxia is part of the phenotype. Two unrelated families and a mouse model.
Sources: Expert list
Ataxia - paediatric v0.257 UCHL1 Zornitza Stark edited their review of gene: UCHL1: Changed publications: 28007905, 23359680, 11555633
Ataxia - paediatric v0.257 SVBP Zornitza Stark Tag founder tag was added to gene: SVBP.
Ataxia - paediatric v0.257 SVBP Zornitza Stark changed review comment from: 5 unrelated families with homozygous mutations in SVBP; syndromic cause of paediatric ataxia. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls.
Sources: Literature; to: 5 unrelated families with homozygous mutations in SVBP; syndromic cause of paediatric ataxia. Some shared the same founder variant, p.Q28*. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls.
Sources: Literature
Ataxia - paediatric v0.257 SLC52A2 Zornitza Stark changed review comment from: Generally presents with a range of neuropathies but ataxia described.; to: Generally presents with a range of neuropathies but ataxia described. Treatable condition.
Ataxia - paediatric v0.257 SLC52A2 Zornitza Stark edited their review of gene: SLC52A2: Changed publications: 30377535
Ataxia - paediatric v0.257 SLC44A1 Zornitza Stark edited their review of gene: SLC44A1: Changed phenotypes: Childhood-onset neurodegeneration, progressive ataxia tremor cognitive decline dysphagia optic atrophy dysarthria, Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, MIM# 618868
Ataxia - paediatric v0.257 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from Hereditary motor and sensory neuropathy type VIB, 616505 to Hereditary motor and sensory neuropathy type VIB, MIM#616505
Ataxia - paediatric v0.256 SLC25A46 Zornitza Stark Publications for gene: SLC25A46 were set to
Ataxia - paediatric v0.255 SLC25A46 Zornitza Stark changed review comment from: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus.

Nine unrelated families reported, supportive functional data.; to: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus.

At least 10 unrelated families reported, supportive functional data.
Ataxia - paediatric v0.255 SLC25A46 Zornitza Stark edited their review of gene: SLC25A46: Changed publications: 30178502, 26168012, 27543974, 27430653, 27390132, 28934388, 28558379
Ataxia - paediatric v0.255 SLC25A46 Zornitza Stark changed review comment from: Age of onset is variable, but childhood onset described. Ataxia is a feature.; to: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus.

Nine unrelated families reported, supportive functional data.
Ataxia - paediatric v0.255 SLC25A46 Zornitza Stark edited their review of gene: SLC25A46: Changed publications: 30178502
Ataxia - paediatric v0.255 SLC17A5 Zornitza Stark Publications for gene: SLC17A5 were set to
Ataxia - paediatric v0.254 SLC17A5 Zornitza Stark edited their review of gene: SLC17A5: Changed publications: 26171070
Ataxia - paediatric v0.254 SCYL1 Zornitza Stark changed review comment from: Childhood onset.; to: Childhood onset, at least 7 unrelated families reported.
Ataxia - paediatric v0.254 SCN8A Zornitza Stark Marked gene: SCN8A as ready
Ataxia - paediatric v0.254 SCN8A Zornitza Stark Gene: scn8a has been classified as Green List (High Evidence).
Ataxia - paediatric v0.254 SCN8A Zornitza Stark Phenotypes for gene: SCN8A were changed from epilepsy; Benign familial infantile seizures 5, 617080; paroxysmal kinesigenic dyskinesias; Epileptic encephalopathy 13, 614558; Cognitive impairment with or without cerebellar ataxia, 614306 to Epileptic encephalopathy 13, 614558; Cognitive impairment with or without cerebellar ataxia, 614306
Ataxia - paediatric v0.253 SCN8A Zornitza Stark Publications for gene: SCN8A were set to
Ataxia - paediatric v0.252 SCN8A Zornitza Stark reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31904124, 31887642, 31675620; Phenotypes: Cognitive impairment with or without cerebellar ataxia, MIM# 614306, Epileptic encephalopathy, early infantile, 13, MIM# 614558; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - paediatric v0.252 SCN2A Zornitza Stark changed review comment from: Classically presents with seizures and DD/ID although a range of other manifestations reported, including movement abnormalities, including ataxia.; to: Classically presents with seizures and DD/ID although a range of other manifestations reported, including movement abnormalities, including ataxia, especially episodic ataxia.
Ataxia - paediatric v0.252 SCN2A Zornitza Stark edited their review of gene: SCN2A: Changed publications: 31924505, 32893078, 31904126
Ataxia - paediatric v0.252 SCN1A Zornitza Stark Publications for gene: SCN1A were set to
Ataxia - paediatric v0.251 SCN1A Zornitza Stark edited their review of gene: SCN1A: Changed publications: 27264139, 27817982, 28732259
Ataxia - paediatric v0.251 RUBCN Zornitza Stark changed review comment from: Two consanguineous families reported in the literature with homozygous truncating variants in this gene and ataxia.; to: Three consanguineous families reported in the literature with homozygous truncating variants in this gene and ataxia. Two have the same founder variant.
Ataxia - paediatric v0.251 RUBCN Zornitza Stark edited their review of gene: RUBCN: Changed publications: 20826435, 30237576, 32450808
Ataxia - paediatric v0.251 RORA Zornitza Stark changed review comment from: 11 unrelated individuals with syndromic intellectual disability and de novo variants in this gene. Severity varied from mild borderline intellectual disability with mild speech delay or normal speech, through to severe cognitive impairment with poor or absent speech. Most had ataxia, hypotonia, poor coordination, and/or mild tremor, suggesting cerebellar dysfunction. Three individuals had documented cerebellar hypoplasia or pontocerebellar atrophy on brain imaging. Seven had seizures of variable types, including neonatal myoclonic, tonic-clonic, multifocal, generalized, and absence. Five were diagnosed with autism spectrum disorder. More variable features included strabismus, esotropia, nystagmus, and oculomotor apraxia; to: 11 unrelated individuals with syndromic intellectual disability and de novo variants in this gene. Severity varied from mild borderline intellectual disability with mild speech delay or normal speech, through to severe cognitive impairment with poor or absent speech. Most had ataxia, hypotonia, poor coordination, and/or mild tremor, suggesting cerebellar dysfunction. Three individuals had documented cerebellar hypoplasia or pontocerebellar atrophy on brain imaging. Seven had seizures of variable types, including neonatal myoclonic, tonic-clonic, multifocal, generalized, and absence. Five were diagnosed with autism spectrum disorder. More variable features included strabismus, esotropia, nystagmus, and oculomotor apraxia.

Postulated that some variants exert dominant-negative effect resulting in a more severe phenotype than the LoF variants.
Ataxia - paediatric v0.251 RORA Zornitza Stark Marked gene: RORA as ready
Ataxia - paediatric v0.251 RORA Zornitza Stark Gene: rora has been classified as Green List (High Evidence).
Ataxia - paediatric v0.251 RORA Zornitza Stark Publications for gene: RORA were set to
Ataxia - paediatric v0.250 RORA Zornitza Stark reviewed gene: RORA: Rating: GREEN; Mode of pathogenicity: None; Publications: 29656859; Phenotypes: Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM# 618060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - paediatric v0.250 PRICKLE1 Zornitza Stark Marked gene: PRICKLE1 as ready
Ataxia - paediatric v0.250 PRICKLE1 Zornitza Stark Gene: prickle1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.250 PRICKLE1 Zornitza Stark Publications for gene: PRICKLE1 were set to
Ataxia - paediatric v0.249 PRICKLE1 Zornitza Stark reviewed gene: PRICKLE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301774; Phenotypes: Epilepsy, progressive myoclonic 1B, MIM# 612437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.249 PEX7 Zornitza Stark edited their review of gene: PEX7: Changed publications: 25851898
Ataxia - paediatric v0.249 OPA1 Zornitza Stark Publications for gene: OPA1 were set to 30165240
Ataxia - paediatric v0.248 OPA1 Zornitza Stark reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28494813; Phenotypes: Optic atrophy plus syndrome, MIM# 125250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - paediatric v0.248 MORC2 Zornitza Stark Marked gene: MORC2 as ready
Ataxia - paediatric v0.248 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.248 MORC2 Zornitza Stark Classified gene: MORC2 as Green List (high evidence)
Ataxia - paediatric v0.248 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.247 MORC2 Zornitza Stark gene: MORC2 was added
gene: MORC2 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MORC2 were set to 28402445
Phenotypes for gene: MORC2 were set to Axonal type CMT disease type 2Z, 616688; Cerebellar ataxia
Review for gene: MORC2 was set to GREEN
Added comment: The p.Thr362Arg variant has been reported as a de novo event in unrelated families with cerebellar ataxia in addition to CMT and nocturnal hypoventilation.
Sources: Expert list
Ataxia - paediatric v0.246 MAPK8IP3 Zornitza Stark Phenotypes for gene: MAPK8IP3 were changed from Intellectual Disability with variable brain anomalies; Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431 to Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431
Ataxia - paediatric v0.245 MAPK8IP3 Zornitza Stark Publications for gene: MAPK8IP3 were set to 30612693
Ataxia - paediatric v0.244 MAPK8IP3 Zornitza Stark Classified gene: MAPK8IP3 as Amber List (moderate evidence)
Ataxia - paediatric v0.244 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.243 MAPK8IP3 Zornitza Stark changed review comment from: >3 reported individuals and functional evidence in Caenorhabditis elegans
Sources: Literature; to: 18 reported individuals of whom 2 had ataxia.
Sources: Literature
Ataxia - paediatric v0.243 MAPK8IP3 Zornitza Stark edited their review of gene: MAPK8IP3: Changed publications: 30612693, 30945334
Ataxia - paediatric v0.243 MAPK8IP3 Zornitza Stark edited their review of gene: MAPK8IP3: Changed rating: AMBER
Ataxia - paediatric v0.243 LARS2 Zornitza Stark Marked gene: LARS2 as ready
Ataxia - paediatric v0.243 LARS2 Zornitza Stark Gene: lars2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.243 LARS2 Zornitza Stark Phenotypes for gene: LARS2 were changed from Perrault syndrome 4 to Perrault syndrome 4; Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021; Leukodystrophy
Ataxia - paediatric v0.242 LARS2 Zornitza Stark Publications for gene: LARS2 were set to
Ataxia - paediatric v0.241 LARS2 Zornitza Stark reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29205794, 32423379, 30737337; Phenotypes: Perrault syndrome 4, MIM# 615300, Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021, Leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.241 LAMA1 Zornitza Stark Publications for gene: LAMA1 were set to 26932191
Ataxia - paediatric v0.240 LAMA1 Zornitza Stark commented on gene: LAMA1: Five unrelated families reported.
Ataxia - paediatric v0.240 LAMA1 Zornitza Stark edited their review of gene: LAMA1: Changed publications: 25105227
Ataxia - paediatric v0.240 KCNA2 Zornitza Stark commented on gene: KCNA2: Review of 23 affected individuals in PMID 29050392: some variants are LoF and others GoF, and some genotype-phenotype correlations made. The main differences were (i) predominant focal (loss-of-function) versus generalized (gain-of-function) seizures and corresponding epileptic discharges with prominent sleep activation in most cases with loss-of-function mutations; (ii) more severe epilepsy, developmental problems and ataxia, and atrophy of the cerebellum or even the whole brain in about half of the patients with gain-of-function mutations; and (iii) most severe early-onset phenotypes, occasionally with neonatal onset epilepsy and developmental impairment, as well as generalised and focal seizures and EEG abnormalities for patients with gain- and loss-of-function mutations.
Ataxia - paediatric v0.240 IRF2BPL Zornitza Stark reviewed gene: IRF2BPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 30057031; Phenotypes: Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM# 618088; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - paediatric v0.240 HARS2 Zornitza Stark Marked gene: HARS2 as ready
Ataxia - paediatric v0.240 HARS2 Zornitza Stark Gene: hars2 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.240 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from Perrault syndrome 2 to Perrault syndrome 2, MIM# 614926
Ataxia - paediatric v0.239 HARS2 Zornitza Stark Publications for gene: HARS2 were set to
Ataxia - paediatric v0.238 HARS2 Zornitza Stark Classified gene: HARS2 as Red List (low evidence)
Ataxia - paediatric v0.238 HARS2 Zornitza Stark Gene: hars2 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.237 HARS2 Zornitza Stark reviewed gene: HARS2: Rating: RED; Mode of pathogenicity: None; Publications: 31827252; Phenotypes: Perrault syndrome 2, MIM# 614926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.237 GSS Zornitza Stark Marked gene: GSS as ready
Ataxia - paediatric v0.237 GSS Zornitza Stark Gene: gss has been classified as Green List (High Evidence).
Ataxia - paediatric v0.237 GSS Zornitza Stark Phenotypes for gene: GSS were changed from Gluthathione synthetase deficiency to Gluthathione synthetase deficiency, MIM# 266130
Ataxia - paediatric v0.236 GSS Zornitza Stark Publications for gene: GSS were set to
Ataxia - paediatric v0.235 GSS Zornitza Stark reviewed gene: GSS: Rating: GREEN; Mode of pathogenicity: None; Publications: 15717202; Phenotypes: Glutathione synthetase deficiency, MIM# 266130; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.235 FBXL4 Zornitza Stark Marked gene: FBXL4 as ready
Ataxia - paediatric v0.235 FBXL4 Zornitza Stark Gene: fbxl4 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.235 FBXL4 Zornitza Stark Phenotypes for gene: FBXL4 were changed from Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), MIM# 615471
Ataxia - paediatric v0.234 FBXL4 Zornitza Stark Publications for gene: FBXL4 were set to
Ataxia - paediatric v0.233 FBXL4 Zornitza Stark reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28383868; Phenotypes: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), MIM# 615471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.233 EBF3 Zornitza Stark reviewed gene: EBF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28017373, 28017372, 28017370, 32366537; Phenotypes: Hypotonia, ataxia, and delayed development syndrome, MIM# 617330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - paediatric v0.233 DOCK3 Zornitza Stark reviewed gene: DOCK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28195318, 29130632, 30976111; Phenotypes: Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.233 CSTB Zornitza Stark changed review comment from: Myoclonic epilepsy of Unverricht and Lundborg is an autosomal recessive disorder characterized by onset of neurodegeneration between 6 and 13 years of age. It is typically progressive in adolescence, with dramatic worsening of myoclonus and ataxia in the first 6 years after onset. The disease stabilises in early adulthood, and myoclonus and ataxia may even improve, and there is minimal to no cognitive decline.

Note the most common causative allele is a dodecamer repeat in the promoter region.; to: Myoclonic epilepsy of Unverricht and Lundborg is an autosomal recessive disorder characterized by onset of neurodegeneration between 6 and 13 years of age. It is typically progressive in adolescence, with dramatic worsening of myoclonus and ataxia in the first 6 years after onset. The disease stabilises in early adulthood, and myoclonus and ataxia may even improve, and there is minimal to no cognitive decline.

Note the most common causative allele is a dodecamer repeat in the promoter region. Missense variants have been reported, most commonly compound het with the repeat, except for p.Gly4Arg which has been reported in the homozygous state also.
Ataxia - paediatric v0.233 CSTB Zornitza Stark Tag STR tag was added to gene: CSTB.
Ataxia - paediatric v0.233 CSTB Zornitza Stark Marked gene: CSTB as ready
Ataxia - paediatric v0.233 CSTB Zornitza Stark Gene: cstb has been classified as Green List (High Evidence).
Ataxia - paediatric v0.233 CSTB Zornitza Stark Phenotypes for gene: CSTB were changed from Progressive myoclonic epilepsy 1A, 254800; Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM#254800
Ataxia - paediatric v0.232 CSTB Zornitza Stark Publications for gene: CSTB were set to
Ataxia - paediatric v0.231 CSTB Zornitza Stark Tag 5'UTR tag was added to gene: CSTB.
Ataxia - paediatric v0.231 CSTB Zornitza Stark reviewed gene: CSTB: Rating: GREEN; Mode of pathogenicity: None; Publications: 9012407, 9054946; Phenotypes: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.231 CLPP Zornitza Stark Marked gene: CLPP as ready
Ataxia - paediatric v0.231 CLPP Zornitza Stark Gene: clpp has been classified as Green List (High Evidence).
Ataxia - paediatric v0.231 CLPP Zornitza Stark Phenotypes for gene: CLPP were changed from Perrault syndrome 3 to Perrault syndrome 3, MIM# 614129
Ataxia - paediatric v0.230 CLPP Zornitza Stark Publications for gene: CLPP were set to
Ataxia - paediatric v0.229 CLPP Zornitza Stark reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: None; Publications: 25254289; Phenotypes: Perrault syndrome 3, MIM# 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.229 CLN5 Zornitza Stark Marked gene: CLN5 as ready
Ataxia - paediatric v0.229 CLN5 Zornitza Stark Gene: cln5 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.229 CLN5 Zornitza Stark Phenotypes for gene: CLN5 were changed from Ceroid lipofuscinosis neuronal 5 to Ceroid lipofuscinosis neuronal 5, MIM# 256731
Ataxia - paediatric v0.228 CLN5 Zornitza Stark reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 5, MIM# 256731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.228 ATP8A2 Zornitza Stark changed review comment from: Multiple individuals from unrelated families reported with bi-allelic variants in this gene and neurological phenotypes including intellectual disability and cerebellar ataxia.
Sources: Expert list; to: 10 individuals from six unrelated families reported with bi-allelic variants in this gene and neurological phenotypes including intellectual disability and cerebellar ataxia.
Sources: Expert list
Ataxia - paediatric v0.228 ATP8A2 Zornitza Stark changed review comment from: Multiple individuals from unrelated families reported with bi-allelic variants in this gene and neurological phenotypes including intellectual disability.
Sources: Expert list; to: Multiple individuals from unrelated families reported with bi-allelic variants in this gene and neurological phenotypes including intellectual disability and cerebellar ataxia.
Sources: Expert list
Ataxia - paediatric v0.228 ALDH5A1 Zornitza Stark Phenotypes for gene: ALDH5A1 were changed from Succinate-semialdehyde dehydrogenase deficiency to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Ataxia - paediatric v0.227 ALDH5A1 Zornitza Stark Marked gene: ALDH5A1 as ready
Ataxia - paediatric v0.227 ALDH5A1 Zornitza Stark Gene: aldh5a1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.227 ALDH5A1 Zornitza Stark Publications for gene: ALDH5A1 were set to
Ataxia - paediatric v0.226 ALDH5A1 Zornitza Stark reviewed gene: ALDH5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14635103; Phenotypes: Succinic semialdehyde dehydrogenase deficiency, MIM# 271980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.226 ADPRHL2 Zornitza Stark Publications for gene: ADPRHL2 were set to
Ataxia - paediatric v0.225 ADPRHL2 Zornitza Stark Marked gene: ADPRHL2 as ready
Ataxia - paediatric v0.225 ADPRHL2 Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is ADPRS.
Ataxia - paediatric v0.225 ADPRHL2 Zornitza Stark Gene: adprhl2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.225 ADPRHL2 Zornitza Stark Tag new gene name tag was added to gene: ADPRHL2.
Ataxia - paediatric v0.225 ADPRHL2 Zornitza Stark Deleted their comment
Ataxia - paediatric v0.225 ADPRHL2 Zornitza Stark edited their review of gene: ADPRHL2: Added comment: Fourteen unrelated families reported with stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS), an autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development. The disorder is characterised by cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable: some individuals develop seizures early in life that are associated with loss of developmental milestones and early sudden death in childhood, whereas others present at a later age with muscle weakness, gait ataxia, impaired speech, more subtle clinical deterioration, and cognitive decline. Neurologic involvement includes gait ataxia, cerebellar signs associated with cerebellar atrophy, generalized brain atrophy, impaired intellectual development, hearing loss, and peripheral neuropathy; Changed publications: 30100084, 30401461
Ataxia - paediatric v0.225 ACO2 Zornitza Stark changed review comment from: Ataxia is part of the phenotype.
Sources: Expert list; to: Ataxia is part of the phenotype, particularly in more mildly affected individuals, where it can be a presenting feature. Episodic ataxia also reported.
Sources: Expert list
Ataxia - paediatric v0.225 ACO2 Zornitza Stark edited their review of gene: ACO2: Changed publications: 32519519
Ataxia - paediatric v0.225 EXOSC5 Zornitza Stark Marked gene: EXOSC5 as ready
Ataxia - paediatric v0.225 EXOSC5 Zornitza Stark Gene: exosc5 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.225 EXOSC5 Zornitza Stark Classified gene: EXOSC5 as Green List (high evidence)
Ataxia - paediatric v0.225 EXOSC5 Zornitza Stark Gene: exosc5 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.224 EXOSC5 Zornitza Stark gene: EXOSC5 was added
gene: EXOSC5 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: EXOSC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC5 were set to 32504085; 29302074
Phenotypes for gene: EXOSC5 were set to Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia
Review for gene: EXOSC5 was set to GREEN
Added comment: - PMID: 32504085 (2020) - Five patients from four families with biallelic variants in EXOSC5. Clinical features included short stature (3/5), developmental delays that affect motor skills (3/5), hypotonia (4/5), ataxia (3/4), cerebellar hypoplasia/atrophy (4/5). Cognitive function was generally preserved, but included mild speech delays in one patient. Cerebellar ataxia was described in two sibs and one singleton - all of whom were compound heterozygous for the p.Thr114Ile variant, inherited in trans with a frameshift variant (p.His30Thrfs*35) or deletion involving exons 5–6 of EXOSC5, respectively. A LoF zebrafish model resulted in a variety of morphological defects including shortened and curved tails/bodies, reduced eye/head size and oedema. Functional studies of the variants in budding yeast and cultured cells showed some defects in RNA exosome function and interactions, that could not be explained by decrease in the steady-state level of EXOSC5.

- PMID: 29302074 (2019) - Three sibs with a homozygous EXOSC5 variant (p.Thr114Ile), associated with mild motor delays, cerebellar ataxia, nystagmus, dysarthria, and moderate ID. The family is also described in PMID: 30950035. No functional studies of the variant were undertaken.
Sources: Literature
Ataxia - paediatric v0.223 KIF1C Zornitza Stark Publications for gene: KIF1C were set to
Ataxia - paediatric v0.222 KIF1C Zornitza Stark reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 24319291, 31413903, 29544888; Phenotypes: Spastic ataxia 2, autosomal recessive, MIM# 611302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.222 HARS Zornitza Stark Publications for gene: HARS were set to 32296180
Ataxia - paediatric v0.221 HARS Zornitza Stark reviewed gene: HARS: Rating: AMBER; Mode of pathogenicity: None; Publications: 32333447; Phenotypes: multisystem ataxic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.221 HARS Bryony Thompson Marked gene: HARS as ready
Ataxia - paediatric v0.221 HARS Bryony Thompson Gene: hars has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.221 HARS Bryony Thompson Classified gene: HARS as Amber List (moderate evidence)
Ataxia - paediatric v0.221 HARS Bryony Thompson Gene: hars has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.220 HARS Bryony Thompson gene: HARS was added
gene: HARS was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: HARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HARS were set to 32296180
Phenotypes for gene: HARS were set to multisystem ataxic syndrome
Review for gene: HARS was set to AMBER
Added comment: 3 cases from 2 unrelated families with biallelic variants and paediatric onset of progressive ataxic gait as a feature of the condition.
Sources: Literature
Ataxia - paediatric v0.219 UBTF Bryony Thompson changed review comment from: Ataxia reported as a feature of the condition in 4 unrelated cases with de novo missense variants.
Sources: Expert list; to: Paediatric ataxia reported as a feature of the condition in 4 unrelated cases with de novo missense variants.
Sources: Expert list
Ataxia - paediatric v0.219 UBTF Bryony Thompson Marked gene: UBTF as ready
Ataxia - paediatric v0.219 UBTF Bryony Thompson Gene: ubtf has been classified as Green List (High Evidence).
Ataxia - paediatric v0.219 UBTF Bryony Thompson Classified gene: UBTF as Green List (high evidence)
Ataxia - paediatric v0.219 UBTF Bryony Thompson Gene: ubtf has been classified as Green List (High Evidence).
Ataxia - paediatric v0.218 UBTF Bryony Thompson gene: UBTF was added
gene: UBTF was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: UBTF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBTF were set to 29300972
Phenotypes for gene: UBTF were set to Neurodegeneration, childhood-onset, with brain atrophy MIM#617672
Review for gene: UBTF was set to GREEN
Added comment: Ataxia reported as a feature of the condition in 4 unrelated cases with de novo missense variants.
Sources: Expert list
Ataxia - paediatric v0.217 MTFMT Bryony Thompson Marked gene: MTFMT as ready
Ataxia - paediatric v0.217 MTFMT Bryony Thompson Gene: mtfmt has been classified as Green List (High Evidence).
Ataxia - paediatric v0.217 MTFMT Bryony Thompson Classified gene: MTFMT as Green List (high evidence)
Ataxia - paediatric v0.217 MTFMT Bryony Thompson Gene: mtfmt has been classified as Green List (High Evidence).
Ataxia - paediatric v0.216 MTFMT Bryony Thompson gene: MTFMT was added
gene: MTFMT was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTFMT were set to 26060307; 24461907
Phenotypes for gene: MTFMT were set to Combined oxidative phosphorylation deficiency 15 MIM#614947; Mitochondrial complex I deficiency, nuclear type 27 MIM#618248
Review for gene: MTFMT was set to GREEN
Added comment: Five unrelated cases reported with paediatric onset ataxia as a prominent feature of the condition.
Sources: Expert list
Ataxia - paediatric v0.215 FA2H Bryony Thompson Marked gene: FA2H as ready
Ataxia - paediatric v0.215 FA2H Bryony Thompson Gene: fa2h has been classified as Green List (High Evidence).
Ataxia - paediatric v0.215 FA2H Bryony Thompson Classified gene: FA2H as Green List (high evidence)
Ataxia - paediatric v0.215 FA2H Bryony Thompson Gene: fa2h has been classified as Green List (High Evidence).
Ataxia - paediatric v0.214 FA2H Bryony Thompson gene: FA2H was added
gene: FA2H was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FA2H were set to 31135052
Phenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive MIM#612319
Review for gene: FA2H was set to GREEN
Added comment: Limb ataxia is reported as a feature of the condition in at least 13 cases with mainly paediatric onset.
Sources: Expert list
Ataxia - paediatric v0.213 SCYL1 Zornitza Stark Phenotypes for gene: SCYL1 were changed from Spinocerebellar ataxia, autosomal recessive 21, 616719 to Spinocerebellar ataxia, autosomal recessive 21, 616719; Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy
Ataxia - paediatric v0.212 SCYL1 Zornitza Stark edited their review of gene: SCYL1: Changed phenotypes: Spinocerebellar ataxia, autosomal recessive 21, MIM# 616719, Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy
Ataxia - paediatric v0.212 CACNA1A Bryony Thompson Classified gene: CACNA1A as Green List (high evidence)
Ataxia - paediatric v0.212 CACNA1A Bryony Thompson Added comment: Comment on list classification: Ataxia can be caused by a triplet repeat expansion in this gene, which is not detectable with current WES/WGS technologies. However, SNVs have also been reported as disease-causing.
Ataxia - paediatric v0.212 CACNA1A Bryony Thompson Gene: cacna1a has been classified as Green List (High Evidence).
Ataxia - paediatric v0.211 CACNA1A Bryony Thompson Tag STR tag was added to gene: CACNA1A.
Ataxia - paediatric v0.211 SLC44A1 Zornitza Stark Marked gene: SLC44A1 as ready
Ataxia - paediatric v0.211 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.211 SLC44A1 Zornitza Stark Classified gene: SLC44A1 as Green List (high evidence)
Ataxia - paediatric v0.211 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.210 SLC44A1 Zornitza Stark gene: SLC44A1 was added
gene: SLC44A1 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: SLC44A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC44A1 were set to 31855247
Phenotypes for gene: SLC44A1 were set to Childhood-onset neurodegeneration; progressive ataxia tremor cognitive decline dysphagia optic atrophy dysarthria
Review for gene: SLC44A1 was set to GREEN
Added comment: Four affected individuals from three families with homozygous frameshift variants. Functional evidence points to impaired choline transporter function yet unchanged membrane phosphatidylcholine content. Choline treatments may be beneficial.
Sources: Literature
Ataxia - paediatric v0.209 ABHD12 Zornitza Stark Marked gene: ABHD12 as ready
Ataxia - paediatric v0.209 ABHD12 Zornitza Stark Gene: abhd12 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.209 ACO2 Zornitza Stark Marked gene: ACO2 as ready
Ataxia - paediatric v0.209 ACO2 Zornitza Stark Gene: aco2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.209 ACO2 Zornitza Stark Phenotypes for gene: ACO2 were changed from Infantile cerebellar-retinal degeneration to Infantile cerebellar-retinal degeneration, MIM#614559
Ataxia - paediatric v0.208 ADGRG1 Zornitza Stark Marked gene: ADGRG1 as ready
Ataxia - paediatric v0.208 ADGRG1 Zornitza Stark Gene: adgrg1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.208 ADPRHL2 Zornitza Stark Marked gene: ADPRHL2 as ready
Ataxia - paediatric v0.208 ADPRHL2 Zornitza Stark Gene: adprhl2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.208 AHI1 Zornitza Stark Marked gene: AHI1 as ready
Ataxia - paediatric v0.208 AHI1 Zornitza Stark Gene: ahi1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.208 AHI1 Zornitza Stark Publications for gene: AHI1 were set to
Ataxia - paediatric v0.207 ANO10 Zornitza Stark Marked gene: ANO10 as ready
Ataxia - paediatric v0.207 ANO10 Zornitza Stark Gene: ano10 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.207 ARMC9 Zornitza Stark Marked gene: ARMC9 as ready
Ataxia - paediatric v0.207 ARMC9 Zornitza Stark Gene: armc9 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.207 ARMC9 Zornitza Stark Phenotypes for gene: ARMC9 were changed from Joubert syndrome 30 to Joubert syndrome 30, MIM#617622
Ataxia - paediatric v0.206 ARMC9 Zornitza Stark Classified gene: ARMC9 as Red List (low evidence)
Ataxia - paediatric v0.206 ARMC9 Zornitza Stark Gene: armc9 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.205 ARSA Zornitza Stark Marked gene: ARSA as ready
Ataxia - paediatric v0.205 ARSA Zornitza Stark Gene: arsa has been classified as Green List (High Evidence).
Ataxia - paediatric v0.205 ATP8A2 Zornitza Stark Marked gene: ATP8A2 as ready
Ataxia - paediatric v0.205 ATP8A2 Zornitza Stark Gene: atp8a2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.205 ATP8A2 Zornitza Stark Phenotypes for gene: ATP8A2 were changed from Cerebellar ataxia, mental retardation and dysequilibirum syndrome 4 to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268
Ataxia - paediatric v0.204 ATP8A2 Zornitza Stark Publications for gene: ATP8A2 were set to
Ataxia - paediatric v0.203 CA8 Zornitza Stark Marked gene: CA8 as ready
Ataxia - paediatric v0.203 CA8 Zornitza Stark Gene: ca8 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.203 CA8 Zornitza Stark Publications for gene: CA8 were set to
Ataxia - paediatric v0.202 CAMTA1 Zornitza Stark Marked gene: CAMTA1 as ready
Ataxia - paediatric v0.202 CAMTA1 Zornitza Stark Gene: camta1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.202 CAMTA1 Zornitza Stark Publications for gene: CAMTA1 were set to
Ataxia - paediatric v0.201 DOCK3 Zornitza Stark Marked gene: DOCK3 as ready
Ataxia - paediatric v0.201 DOCK3 Zornitza Stark Gene: dock3 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.201 IRF2BPL Zornitza Stark Marked gene: IRF2BPL as ready
Ataxia - paediatric v0.201 IRF2BPL Zornitza Stark Gene: irf2bpl has been classified as Green List (High Evidence).
Ataxia - paediatric v0.201 IRF2BPL Zornitza Stark Publications for gene: IRF2BPL were set to
Ataxia - paediatric v0.200 KCNA1 Zornitza Stark Marked gene: KCNA1 as ready
Ataxia - paediatric v0.200 KCNA1 Zornitza Stark Gene: kcna1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.200 KCNA1 Zornitza Stark Publications for gene: KCNA1 were set to
Ataxia - paediatric v0.199 KCNA1 Zornitza Stark Mode of pathogenicity for gene: KCNA1 was changed from to Other
Ataxia - paediatric v0.198 KCNA2 Zornitza Stark Marked gene: KCNA2 as ready
Ataxia - paediatric v0.198 KCNA2 Zornitza Stark Gene: kcna2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.198 KCNA2 Zornitza Stark Publications for gene: KCNA2 were set to
Ataxia - paediatric v0.197 LAMA1 Zornitza Stark Marked gene: LAMA1 as ready
Ataxia - paediatric v0.197 LAMA1 Zornitza Stark Gene: lama1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.197 MAPK8IP3 Zornitza Stark Marked gene: MAPK8IP3 as ready
Ataxia - paediatric v0.197 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.197 MAPK8IP3 Zornitza Stark Phenotypes for gene: MAPK8IP3 were changed from Intellectual Disability with variable brain anomalies to Intellectual Disability with variable brain anomalies; Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431
Ataxia - paediatric v0.196 MAPK8IP3 Zornitza Stark Publications for gene: MAPK8IP3 were set to
Ataxia - paediatric v0.195 MVK Zornitza Stark Marked gene: MVK as ready
Ataxia - paediatric v0.195 MVK Zornitza Stark Gene: mvk has been classified as Green List (High Evidence).
Ataxia - paediatric v0.195 MVK Zornitza Stark Publications for gene: MVK were set to
Ataxia - paediatric v0.194 NKX2-1 Zornitza Stark Marked gene: NKX2-1 as ready
Ataxia - paediatric v0.194 NKX2-1 Zornitza Stark Gene: nkx2-1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.194 NKX2-1 Zornitza Stark Publications for gene: NKX2-1 were set to
Ataxia - paediatric v0.193 NPC2 Zornitza Stark Marked gene: NPC2 as ready
Ataxia - paediatric v0.193 NPC2 Zornitza Stark Gene: npc2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.193 OPA1 Zornitza Stark Marked gene: OPA1 as ready
Ataxia - paediatric v0.193 OPA1 Zornitza Stark Gene: opa1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.193 OPA1 Zornitza Stark Publications for gene: OPA1 were set to
Ataxia - paediatric v0.192 OPHN1 Zornitza Stark Marked gene: OPHN1 as ready
Ataxia - paediatric v0.192 OPHN1 Zornitza Stark Gene: ophn1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.192 PLA2G6 Zornitza Stark Marked gene: PLA2G6 as ready
Ataxia - paediatric v0.192 PLA2G6 Zornitza Stark Gene: pla2g6 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.192 PNKD Zornitza Stark Marked gene: PNKD as ready
Ataxia - paediatric v0.192 PNKD Zornitza Stark Gene: pnkd has been classified as Green List (High Evidence).
Ataxia - paediatric v0.192 PNKP Zornitza Stark Marked gene: PNKP as ready
Ataxia - paediatric v0.192 PNKP Zornitza Stark Gene: pnkp has been classified as Green List (High Evidence).
Ataxia - paediatric v0.192 PNKP Zornitza Stark Publications for gene: PNKP were set to
Ataxia - paediatric v0.191 POLR3A Zornitza Stark Marked gene: POLR3A as ready
Ataxia - paediatric v0.191 POLR3A Zornitza Stark Gene: polr3a has been classified as Green List (High Evidence).
Ataxia - paediatric v0.191 SRD5A3 Zornitza Stark Marked gene: SRD5A3 as ready
Ataxia - paediatric v0.191 SRD5A3 Zornitza Stark Gene: srd5a3 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.191 PRRT2 Zornitza Stark Marked gene: PRRT2 as ready
Ataxia - paediatric v0.191 PRRT2 Zornitza Stark Gene: prrt2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.191 TBC1D23 Zornitza Stark Marked gene: TBC1D23 as ready
Ataxia - paediatric v0.191 TBC1D23 Zornitza Stark Gene: tbc1d23 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.191 TCTN1 Zornitza Stark Marked gene: TCTN1 as ready
Ataxia - paediatric v0.191 TCTN1 Zornitza Stark Gene: tctn1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.191 TDP2 Zornitza Stark Marked gene: TDP2 as ready
Ataxia - paediatric v0.191 TDP2 Zornitza Stark Gene: tdp2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.191 TTC19 Zornitza Stark Marked gene: TTC19 as ready
Ataxia - paediatric v0.191 TTC19 Zornitza Stark Gene: ttc19 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.191 UCHL1 Zornitza Stark Marked gene: UCHL1 as ready
Ataxia - paediatric v0.191 UCHL1 Zornitza Stark Gene: uchl1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.191 WDR81 Zornitza Stark Marked gene: WDR81 as ready
Ataxia - paediatric v0.191 WDR81 Zornitza Stark Gene: wdr81 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.191 WDR81 Zornitza Stark Publications for gene: WDR81 were set to
Ataxia - paediatric v0.190 WFS1 Zornitza Stark Marked gene: WFS1 as ready
Ataxia - paediatric v0.190 WFS1 Zornitza Stark Gene: wfs1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.190 WFS1 Zornitza Stark Phenotypes for gene: WFS1 were changed from Wolfram syndrome 1, 222300 to Wolfram syndrome 1, 222300
Ataxia - paediatric v0.189 WFS1 Zornitza Stark Publications for gene: WFS1 were set to
Ataxia - paediatric v0.188 MTPAP Zornitza Stark Marked gene: MTPAP as ready
Ataxia - paediatric v0.188 MTPAP Zornitza Stark Gene: mtpap has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.188 UBR4 Zornitza Stark Marked gene: UBR4 as ready
Ataxia - paediatric v0.188 UBR4 Zornitza Stark Gene: ubr4 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.188 UBR4 Zornitza Stark Publications for gene: UBR4 were set to 23982692
Ataxia - paediatric v0.187 BBS10 Zornitza Stark Marked gene: BBS10 as ready
Ataxia - paediatric v0.187 BBS10 Zornitza Stark Gene: bbs10 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.187 BBS12 Zornitza Stark Marked gene: BBS12 as ready
Ataxia - paediatric v0.187 BBS12 Zornitza Stark Gene: bbs12 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.187 BBS2 Zornitza Stark Marked gene: BBS2 as ready
Ataxia - paediatric v0.187 BBS2 Zornitza Stark Gene: bbs2 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.187 BBS4 Zornitza Stark Marked gene: BBS4 as ready
Ataxia - paediatric v0.187 BBS4 Zornitza Stark Gene: bbs4 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.187 BBS5 Zornitza Stark Marked gene: BBS5 as ready
Ataxia - paediatric v0.187 BBS5 Zornitza Stark Gene: bbs5 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.187 BBS7 Zornitza Stark Marked gene: BBS7 as ready
Ataxia - paediatric v0.187 BBS7 Zornitza Stark Gene: bbs7 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.187 CHMP1A Zornitza Stark Marked gene: CHMP1A as ready
Ataxia - paediatric v0.187 CHMP1A Zornitza Stark Gene: chmp1a has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.187 BBS9 Zornitza Stark Marked gene: BBS9 as ready
Ataxia - paediatric v0.187 BBS9 Zornitza Stark Gene: bbs9 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.187 PCDH12 Zornitza Stark Marked gene: PCDH12 as ready
Ataxia - paediatric v0.187 PCDH12 Zornitza Stark Gene: pcdh12 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.187 PCYT2 Zornitza Stark Marked gene: PCYT2 as ready
Ataxia - paediatric v0.187 PCYT2 Zornitza Stark Gene: pcyt2 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.187 SAR1B Zornitza Stark Marked gene: SAR1B as ready
Ataxia - paediatric v0.187 SAR1B Zornitza Stark Gene: sar1b has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.187 TRIM32 Zornitza Stark Marked gene: TRIM32 as ready
Ataxia - paediatric v0.187 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.187 TUBB2A Zornitza Stark Marked gene: TUBB2A as ready
Ataxia - paediatric v0.187 TUBB2A Zornitza Stark Gene: tubb2a has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.187 ZNF592 Zornitza Stark Marked gene: ZNF592 as ready
Ataxia - paediatric v0.187 ZNF592 Zornitza Stark Gene: znf592 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.187 TTC8 Zornitza Stark Marked gene: TTC8 as ready
Ataxia - paediatric v0.187 TTC8 Zornitza Stark Gene: ttc8 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.187 AAAS Zornitza Stark Marked gene: AAAS as ready
Ataxia - paediatric v0.187 AAAS Zornitza Stark Gene: aaas has been classified as Green List (High Evidence).
Ataxia - paediatric v0.187 GPAA1 Zornitza Stark Marked gene: GPAA1 as ready
Ataxia - paediatric v0.187 GPAA1 Zornitza Stark Gene: gpaa1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.187 RUBCN Zornitza Stark Marked gene: RUBCN as ready
Ataxia - paediatric v0.187 RUBCN Zornitza Stark Gene: rubcn has been classified as Green List (High Evidence).
Ataxia - paediatric v0.187 RUBCN Zornitza Stark Phenotypes for gene: RUBCN were changed from ?Spinocerebellar ataxia, autosomal recessive 15 to Spinocerebellar ataxia, autosomal recessive 15, MIM#615705
Ataxia - paediatric v0.186 SVBP Zornitza Stark Marked gene: SVBP as ready
Ataxia - paediatric v0.186 SVBP Zornitza Stark Gene: svbp has been classified as Green List (High Evidence).
Ataxia - paediatric v0.186 SVBP Zornitza Stark Publications for gene: SVBP were set to
Ataxia - paediatric v0.185 KCNQ2 Zornitza Stark Marked gene: KCNQ2 as ready
Ataxia - paediatric v0.185 KCNQ2 Zornitza Stark Gene: kcnq2 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.185 KCNQ2 Zornitza Stark Publications for gene: KCNQ2 were set to
Ataxia - paediatric v0.184 CCDC28B Zornitza Stark Marked gene: CCDC28B as ready
Ataxia - paediatric v0.184 CCDC28B Zornitza Stark Gene: ccdc28b has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.184 CCDC28B Zornitza Stark Mode of inheritance for gene: CCDC28B was changed from BIALLELIC, autosomal or pseudoautosomal to Other
Ataxia - paediatric v0.183 COQ5 Zornitza Stark Marked gene: COQ5 as ready
Ataxia - paediatric v0.183 COQ5 Zornitza Stark Gene: coq5 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.183 CYP2U1 Zornitza Stark Marked gene: CYP2U1 as ready
Ataxia - paediatric v0.183 CYP2U1 Zornitza Stark Gene: cyp2u1 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.183 ELOVL1 Zornitza Stark Marked gene: ELOVL1 as ready
Ataxia - paediatric v0.183 ELOVL1 Zornitza Stark Gene: elovl1 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.183 TSEN2 Zornitza Stark Marked gene: TSEN2 as ready
Ataxia - paediatric v0.183 TSEN2 Zornitza Stark Gene: tsen2 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.183 TSEN34 Zornitza Stark Marked gene: TSEN34 as ready
Ataxia - paediatric v0.183 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.183 XRCC1 Bryony Thompson Marked gene: XRCC1 as ready
Ataxia - paediatric v0.183 XRCC1 Bryony Thompson Gene: xrcc1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.183 XRCC1 Bryony Thompson Classified gene: XRCC1 as Green List (high evidence)
Ataxia - paediatric v0.183 XRCC1 Bryony Thompson Gene: xrcc1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.182 XRCC1 Bryony Thompson gene: XRCC1 was added
gene: XRCC1 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: XRCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC1 were set to 28002403; 29472272
Phenotypes for gene: XRCC1 were set to Spinocerebellar ataxia, autosomal recessive 26 MIM#617633
Review for gene: XRCC1 was set to GREEN
Added comment: Three South Asian cases (one with early adult onset and the other two with onset in childhood) reported with slowly progressive cerebellar ataxia accompanied by sensorimotor neuropathy. All with the recurrent splice variant (c.1293G>C, 2 homozygotes and a compound heterozygote). Mice with conditional deletion of the Xrcc1 gene in the brain showed cerebellar ataxia.
Sources: Expert list
Ataxia - paediatric v0.181 RUBCN Bryony Thompson Classified gene: RUBCN as Green List (high evidence)
Ataxia - paediatric v0.181 RUBCN Bryony Thompson Added comment: Comment on list classification: Also supporting in vitro functional assays.
Ataxia - paediatric v0.181 RUBCN Bryony Thompson Gene: rubcn has been classified as Green List (High Evidence).
Ataxia - paediatric v0.180 PCDH12 Bryony Thompson reviewed gene: PCDH12: Rating: RED; Mode of pathogenicity: None; Publications: 30459466; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.180 C5orf42 Zornitza Stark Marked gene: C5orf42 as ready
Ataxia - paediatric v0.180 C5orf42 Zornitza Stark Gene: c5orf42 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.180 C5orf42 Zornitza Stark Phenotypes for gene: C5orf42 were changed from Joubert syndrome 17 to Joubert syndrome 17, MIM# 614615
Ataxia - paediatric v0.179 C5orf42 Zornitza Stark reviewed gene: C5orf42: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 17, MIM# 614615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.179 ATCAY Zornitza Stark Marked gene: ATCAY as ready
Ataxia - paediatric v0.179 ATCAY Zornitza Stark Gene: atcay has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.179 ATCAY Zornitza Stark Phenotypes for gene: ATCAY were changed from Cayman Ataxia, 601238; Cerebellar Ataxia, Cayman type; Ataxia, cerebellar, Cayman type to Ataxia, cerebellar, Cayman type, MIM# 601238
Ataxia - paediatric v0.178 ATCAY Zornitza Stark Publications for gene: ATCAY were set to
Ataxia - paediatric v0.177 ATCAY Zornitza Stark Classified gene: ATCAY as Amber List (moderate evidence)
Ataxia - paediatric v0.177 ATCAY Zornitza Stark Gene: atcay has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.176 ATCAY Zornitza Stark reviewed gene: ATCAY: Rating: AMBER; Mode of pathogenicity: None; Publications: 14556008; Phenotypes: Ataxia, cerebellar, Cayman type, MIM# 601238; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.176 ARL13B Zornitza Stark Marked gene: ARL13B as ready
Ataxia - paediatric v0.176 ARL13B Zornitza Stark Gene: arl13b has been classified as Green List (High Evidence).
Ataxia - paediatric v0.176 ARL13B Zornitza Stark Phenotypes for gene: ARL13B were changed from Joubert syndrome 8 to Joubert syndrome 8, MIM# 612291
Ataxia - paediatric v0.175 ARL13B Zornitza Stark reviewed gene: ARL13B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 8, MIM# 612291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.175 NKX2-1 Bryony Thompson reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10931427, 27066577, 26839702, 26103969; Phenotypes: Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978, Chorea, hereditary benign MIM#118700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - paediatric v0.175 PEX7 Zornitza Stark Marked gene: PEX7 as ready
Ataxia - paediatric v0.175 PEX7 Zornitza Stark Gene: pex7 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.175 PEX7 Zornitza Stark Phenotypes for gene: PEX7 were changed from Refsum disease; Peroxisome biogenesis disorder 9B to Refsum disease; Peroxisome biogenesis disorder 9B, MIM#614879
Ataxia - paediatric v0.174 PEX7 Zornitza Stark reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 9B, MIM# 614879; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.174 PHYH Zornitza Stark Marked gene: PHYH as ready
Ataxia - paediatric v0.174 PHYH Zornitza Stark Gene: phyh has been classified as Green List (High Evidence).
Ataxia - paediatric v0.174 PHYH Zornitza Stark Phenotypes for gene: PHYH were changed from Refsum disease to Refsum disease, MIM# 266500
Ataxia - paediatric v0.173 PHYH Zornitza Stark reviewed gene: PHYH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Refsum disease, MIM# 266500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.173 PMPCB Zornitza Stark Marked gene: PMPCB as ready
Ataxia - paediatric v0.173 PMPCB Zornitza Stark Gene: pmpcb has been classified as Green List (High Evidence).
Ataxia - paediatric v0.173 PMPCB Zornitza Stark Publications for gene: PMPCB were set to
Ataxia - paediatric v0.172 PMPCB Zornitza Stark reviewed gene: PMPCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 29576218; Phenotypes: Multiple mitochondrial dysfunctions syndrome 6, MIM# 617954; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.172 POLR3B Zornitza Stark Marked gene: POLR3B as ready
Ataxia - paediatric v0.172 POLR3B Zornitza Stark Gene: polr3b has been classified as Green List (High Evidence).
Ataxia - paediatric v0.172 POLR3B Zornitza Stark Phenotypes for gene: POLR3B were changed from Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM#614381
Ataxia - paediatric v0.171 MVK Bryony Thompson reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: 12563048, 10401001, 28095071; Phenotypes: Mevalonic aciduria MIM#610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.171 POLR3B Zornitza Stark Publications for gene: POLR3B were set to
Ataxia - paediatric v0.170 POLR3B Zornitza Stark reviewed gene: POLR3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 22036171, 22036172; Phenotypes: Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 614381; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.170 PTRH2 Zornitza Stark Marked gene: PTRH2 as ready
Ataxia - paediatric v0.170 PTRH2 Zornitza Stark Gene: ptrh2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.170 PTRH2 Zornitza Stark Publications for gene: PTRH2 were set to
Ataxia - paediatric v0.169 PTRH2 Zornitza Stark reviewed gene: PTRH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25558065, 25574476, 31057140, 27129381; Phenotypes: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, MIM# 616263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.169 RARS2 Zornitza Stark Marked gene: RARS2 as ready
Ataxia - paediatric v0.169 RARS2 Zornitza Stark Gene: rars2 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.169 RARS2 Zornitza Stark Publications for gene: RARS2 were set to 31429931
Ataxia - paediatric v0.168 RARS2 Zornitza Stark reviewed gene: RARS2: Rating: RED; Mode of pathogenicity: None; Publications: 17847012, 25809939, 20635367; Phenotypes: Pontocerebellar hypoplasia, type 6, MIM# 611523; Mode of inheritance: None
Ataxia - paediatric v0.168 RPGRIP1L Zornitza Stark Marked gene: RPGRIP1L as ready
Ataxia - paediatric v0.168 RPGRIP1L Zornitza Stark Gene: rpgrip1l has been classified as Green List (High Evidence).
Ataxia - paediatric v0.168 RPGRIP1L Zornitza Stark Phenotypes for gene: RPGRIP1L were changed from Joubert syndrome 7 to Joubert syndrome 7, MIM# 611560
Ataxia - paediatric v0.167 RPGRIP1L Zornitza Stark reviewed gene: RPGRIP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 7, MIM# 611560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.167 SCN1A Zornitza Stark Marked gene: SCN1A as ready
Ataxia - paediatric v0.167 SCN1A Zornitza Stark Gene: scn1a has been classified as Green List (High Evidence).
Ataxia - paediatric v0.167 SCN1A Zornitza Stark Phenotypes for gene: SCN1A were changed from Familial hemiplegic migraine 3, 609634; familial hemiplegic migraine 3; Familial febrile seziures 3A, 604403; several epilepsy, convulsion and migraine disorders.; Generalised epilepsy with febrile seizures type 2, 604403; Epileptic encephalopathy 6, 607208; Dravet syndrome to Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208
Ataxia - paediatric v0.166 SCN1A Zornitza Stark reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - paediatric v0.166 SCN2A Zornitza Stark Marked gene: SCN2A as ready
Ataxia - paediatric v0.166 SCN2A Zornitza Stark Gene: scn2a has been classified as Green List (High Evidence).
Ataxia - paediatric v0.166 SCN2A Zornitza Stark Phenotypes for gene: SCN2A were changed from Early infantile epileptic encephalopathy 11 to Early infantile epileptic encephalopathy 11, MIM# 613721
Ataxia - paediatric v0.165 SCN2A Zornitza Stark reviewed gene: SCN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 11, MIM# 613721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - paediatric v0.165 SCYL1 Zornitza Stark Marked gene: SCYL1 as ready
Ataxia - paediatric v0.165 SCYL1 Zornitza Stark Gene: scyl1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.165 SCYL1 Zornitza Stark Publications for gene: SCYL1 were set to
Ataxia - paediatric v0.164 SCYL1 Zornitza Stark reviewed gene: SCYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29419818, 17571074, 26581903, 30531813; Phenotypes: Spinocerebellar ataxia, autosomal recessive 21, MIM# 616719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.164 CTBP1 Bryony Thompson Marked gene: CTBP1 as ready
Ataxia - paediatric v0.164 CTBP1 Bryony Thompson Gene: ctbp1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.164 CTBP1 Bryony Thompson Classified gene: CTBP1 as Green List (high evidence)
Ataxia - paediatric v0.164 CTBP1 Bryony Thompson Gene: ctbp1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.163 CTBP1 Bryony Thompson gene: CTBP1 was added
gene: CTBP1 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: CTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTBP1 were set to 27094857; 28955726; 31041561
Phenotypes for gene: CTBP1 were set to Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, MIM#617915
Review for gene: CTBP1 was set to GREEN
Added comment: Paediatric onset of ataxia and >3 cases reported.
Sources: Expert list
Ataxia - paediatric v0.161 VRK1 Bryony Thompson Deleted their review
Ataxia - paediatric v0.161 VRK1 Bryony Thompson Deleted their comment
Ataxia - paediatric v0.161 UBR4 Bryony Thompson Classified gene: UBR4 as Amber List (moderate evidence)
Ataxia - paediatric v0.161 UBR4 Bryony Thompson Gene: ubr4 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.159 TUBB2A Bryony Thompson Publications for gene: TUBB2A were set to 29547997
Ataxia - paediatric v0.158 TUBB2A Bryony Thompson Classified gene: TUBB2A as Red List (low evidence)
Ataxia - paediatric v0.158 TUBB2A Bryony Thompson Gene: tubb2a has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.157 TUBB2A Bryony Thompson reviewed gene: TUBB2A: Rating: RED; Mode of pathogenicity: None; Publications: 29547997, 32203252; Phenotypes: Cortical dysplasia, complex, with other brain malformations 5 MIM#615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - paediatric v0.157 TUBA1A Bryony Thompson Marked gene: TUBA1A as ready
Ataxia - paediatric v0.157 TUBA1A Bryony Thompson Gene: tuba1a has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.157 TUBA1A Bryony Thompson reviewed gene: TUBA1A: Rating: RED; Mode of pathogenicity: None; Publications: 21403111; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - paediatric v0.157 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Ataxia - paediatric v0.156 SETX Bryony Thompson Marked gene: SETX as ready
Ataxia - paediatric v0.156 SETX Bryony Thompson Gene: setx has been classified as Green List (High Evidence).
Ataxia - paediatric v0.156 SETX Bryony Thompson Classified gene: SETX as Green List (high evidence)
Ataxia - paediatric v0.156 SETX Bryony Thompson Gene: setx has been classified as Green List (High Evidence).
Ataxia - paediatric v0.155 SETX Bryony Thompson gene: SETX was added
gene: SETX was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SETX were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MIM#606002
Review for gene: SETX was set to GREEN
Added comment: Onset usually in mid-teens, average 15 years (range 2 to 20 years).
Sources: Expert list
Ataxia - paediatric v0.154 SACS Bryony Thompson Marked gene: SACS as ready
Ataxia - paediatric v0.154 SACS Bryony Thompson Gene: sacs has been classified as Green List (High Evidence).
Ataxia - paediatric v0.154 SACS Bryony Thompson Classified gene: SACS as Green List (high evidence)
Ataxia - paediatric v0.154 SACS Bryony Thompson Gene: sacs has been classified as Green List (High Evidence).
Ataxia - paediatric v0.153 SACS Bryony Thompson gene: SACS was added
gene: SACS was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type MIM#270550
Review for gene: SACS was set to GREEN
Added comment: Onset usually in infancy or early childhood.
Sources: Expert list
Ataxia - paediatric v0.152 RNF216 Bryony Thompson Marked gene: RNF216 as ready
Ataxia - paediatric v0.152 RNF216 Bryony Thompson Gene: rnf216 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.152 RNF216 Bryony Thompson Classified gene: RNF216 as Green List (high evidence)
Ataxia - paediatric v0.152 RNF216 Bryony Thompson Gene: rnf216 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.151 RNF216 Bryony Thompson gene: RNF216 was added
gene: RNF216 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840
Review for gene: RNF216 was set to GREEN
Added comment: Onset of ataxia is variable and can be from early childhood (ORPHA:1173).
Sources: Expert list
Ataxia - paediatric v0.150 PRRT2 Bryony Thompson Classified gene: PRRT2 as Green List (high evidence)
Ataxia - paediatric v0.150 PRRT2 Bryony Thompson Gene: prrt2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.149 PRRT2 Bryony Thompson gene: PRRT2 was added
gene: PRRT2 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: PRRT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PRRT2 were set to 26598494; 31193310; 30501978; 30713971
Phenotypes for gene: PRRT2 were set to Episodic kinesigenic dyskinesia 1 MIM#128200; Convulsions, familial infantile, with paroxysmal choreoathetosis MIM#602066; Seizures, benign familial infantile, 2 MIM#605751
Review for gene: PRRT2 was set to GREEN
Added comment: Ataxia can be a prominent feature of the condition, particularly in biallelic cases. Onset of ataxia is variable, from paediatric to adult.
Sources: Expert list
Ataxia - paediatric v0.148 SLC17A5 Zornitza Stark Marked gene: SLC17A5 as ready
Ataxia - paediatric v0.148 SLC17A5 Zornitza Stark Gene: slc17a5 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.148 SLC17A5 Zornitza Stark Phenotypes for gene: SLC17A5 were changed from Salla disease; Sialic acid storage disease, severe infantile type to Salla disease; Sialic acid storage disease, severe infantile type, MIM# 269920
Ataxia - paediatric v0.147 SLC17A5 Zornitza Stark reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sialic acid storage disorder, infantile, MIM# 269920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.147 SLC25A46 Zornitza Stark Marked gene: SLC25A46 as ready
Ataxia - paediatric v0.147 SLC25A46 Zornitza Stark Gene: slc25a46 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.147 SLC25A46 Zornitza Stark reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.147 POLG Bryony Thompson Marked gene: POLG as ready
Ataxia - paediatric v0.147 POLG Bryony Thompson Gene: polg has been classified as Green List (High Evidence).
Ataxia - paediatric v0.147 POLG Bryony Thompson Classified gene: POLG as Green List (high evidence)
Ataxia - paediatric v0.147 POLG Bryony Thompson Gene: polg has been classified as Green List (High Evidence).
Ataxia - paediatric v0.146 SLC52A2 Zornitza Stark Marked gene: SLC52A2 as ready
Ataxia - paediatric v0.146 SLC52A2 Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.146 POLG Bryony Thompson gene: POLG was added
gene: POLG was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459; Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450
Review for gene: POLG was set to GREEN
Added comment: Variable age of onset, including infancy and early childhood.
Sources: Expert list
Ataxia - paediatric v0.145 SLC52A2 Zornitza Stark reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brown-Vialetto-Van Laere syndrome 2, MIM# 614707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.145 PNPLA6 Bryony Thompson Marked gene: PNPLA6 as ready
Ataxia - paediatric v0.145 PNPLA6 Bryony Thompson Gene: pnpla6 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.145 PNPLA6 Bryony Thompson Classified gene: PNPLA6 as Green List (high evidence)
Ataxia - paediatric v0.145 PNPLA6 Bryony Thompson Gene: pnpla6 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.144 PNPLA6 Bryony Thompson gene: PNPLA6 was added
gene: PNPLA6 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA6 were set to Boucher-Neuhauser syndrome MIM#215470; Laurence-Moon syndrome MIM#245800; Oliver-McFarlane syndrome MIM#275400; Spastic paraplegia 39, autosomal recessive MIM#612020
Review for gene: PNPLA6 was set to GREEN
Added comment: Variable age of onset for neurological features (including ataxia) from childhood to adulthood.
Sources: Expert list
Ataxia - paediatric v0.143 MTPAP Bryony Thompson reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: None; Publications: 20970105, 26319014, 25008111; Phenotypes: Spastic ataxia 4, autosomal recessive MIM#613672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.143 SLC9A1 Zornitza Stark Marked gene: SLC9A1 as ready
Ataxia - paediatric v0.143 SLC9A1 Zornitza Stark Gene: slc9a1 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.143 SLC9A1 Zornitza Stark Phenotypes for gene: SLC9A1 were changed from Lichtenstein-Knorr Syndrome to Lichtenstein-Knorr Syndrome, MIM# 616291
Ataxia - paediatric v0.142 SLC9A1 Zornitza Stark Publications for gene: SLC9A1 were set to
Ataxia - paediatric v0.141 SLC9A1 Zornitza Stark Classified gene: SLC9A1 as Amber List (moderate evidence)
Ataxia - paediatric v0.141 SLC9A1 Zornitza Stark Gene: slc9a1 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.140 SLC9A1 Zornitza Stark reviewed gene: SLC9A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25205112, 30018422, 25760855; Phenotypes: Lichtenstein-Knorr syndrome, MIM# 616291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.140 SPR Zornitza Stark Marked gene: SPR as ready
Ataxia - paediatric v0.140 SPR Zornitza Stark Gene: spr has been classified as Green List (High Evidence).
Ataxia - paediatric v0.140 SPR Zornitza Stark reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.140 SPTBN2 Zornitza Stark Marked gene: SPTBN2 as ready
Ataxia - paediatric v0.140 SPTBN2 Zornitza Stark Gene: sptbn2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.140 SPTBN2 Zornitza Stark Classified gene: SPTBN2 as Green List (high evidence)
Ataxia - paediatric v0.140 SPTBN2 Zornitza Stark Gene: sptbn2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.139 SPTBN2 Zornitza Stark gene: SPTBN2 was added
gene: SPTBN2 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: SPTBN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPTBN2 were set to 23236289; 23838597; 22781464; 31617442; 31066025
Phenotypes for gene: SPTBN2 were set to Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386; Spinocerebellar ataxia 5, MIM# 600224
Review for gene: SPTBN2 was set to GREEN
Added comment: Both mono-allelic and bi-allelic variants in this gene are associated with childhood-onset ataxia.
Sources: Expert list
Ataxia - paediatric v0.138 SQSTM1 Zornitza Stark Marked gene: SQSTM1 as ready
Ataxia - paediatric v0.138 SQSTM1 Zornitza Stark Gene: sqstm1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.138 SQSTM1 Zornitza Stark Phenotypes for gene: SQSTM1 were changed from Neurodegeneration with ataxia, dystonia, and gaze palsy, 617145 to Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145
Ataxia - paediatric v0.137 SQSTM1 Zornitza Stark Publications for gene: SQSTM1 were set to
Ataxia - paediatric v0.136 SQSTM1 Zornitza Stark reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27545679; Phenotypes: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.136 MTCL1 Bryony Thompson Mode of inheritance for gene: MTCL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ataxia - paediatric v0.135 MTCL1 Bryony Thompson Marked gene: MTCL1 as ready
Ataxia - paediatric v0.135 MTCL1 Bryony Thompson Gene: mtcl1 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.135 MTCL1 Bryony Thompson Classified gene: MTCL1 as Amber List (moderate evidence)
Ataxia - paediatric v0.135 MTCL1 Bryony Thompson Gene: mtcl1 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.134 MTCL1 Bryony Thompson reviewed gene: MTCL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30548255, 28283581; Phenotypes: slowly progressive cerebellar ataxia, mild intellectual disability, seizures, episodic pain, spinocerebellar ataxia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ataxia - paediatric v0.134 STUB1 Zornitza Stark Marked gene: STUB1 as ready
Ataxia - paediatric v0.134 STUB1 Zornitza Stark Gene: stub1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.134 STUB1 Zornitza Stark Classified gene: STUB1 as Green List (high evidence)
Ataxia - paediatric v0.134 STUB1 Zornitza Stark Gene: stub1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.133 STUB1 Zornitza Stark gene: STUB1 was added
gene: STUB1 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: STUB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STUB1 were set to 25258038; 24742043
Phenotypes for gene: STUB1 were set to Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768
Review for gene: STUB1 was set to GREEN
Added comment: Onset is typically in adolescence but onset in childhood also reported.
Sources: Expert list
Ataxia - paediatric v0.132 MSTO1 Bryony Thompson Marked gene: MSTO1 as ready
Ataxia - paediatric v0.132 MSTO1 Bryony Thompson Gene: msto1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.132 MSTO1 Bryony Thompson Classified gene: MSTO1 as Green List (high evidence)
Ataxia - paediatric v0.132 MSTO1 Bryony Thompson Gene: msto1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.131 MSTO1 Bryony Thompson gene: MSTO1 was added
gene: MSTO1 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia MIM#617675
Review for gene: MSTO1 was set to GREEN
Added comment: Onset usually in early childhood.
Sources: Expert list
Ataxia - paediatric v0.130 MARS2 Bryony Thompson Marked gene: MARS2 as ready
Ataxia - paediatric v0.130 MARS2 Bryony Thompson Gene: mars2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.130 MARS2 Bryony Thompson Classified gene: MARS2 as Green List (high evidence)
Ataxia - paediatric v0.130 MARS2 Bryony Thompson Gene: mars2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.129 MARS2 Bryony Thompson gene: MARS2 was added
gene: MARS2 was added to Ataxia - paediatric. Sources: Expert list
SV/CNV tags were added to gene: MARS2.
Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive MIM#611390
Review for gene: MARS2 was set to GREEN
Added comment: Variable age at onset (range 2 to 59 years, mean 24 years). Complex duplication rearrangements the only cause reported to date.
Sources: Expert list
Ataxia - paediatric v0.128 SYNE1 Zornitza Stark Marked gene: SYNE1 as ready
Ataxia - paediatric v0.128 SYNE1 Zornitza Stark Gene: syne1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.128 SYNE1 Zornitza Stark Classified gene: SYNE1 as Green List (high evidence)
Ataxia - paediatric v0.128 SYNE1 Zornitza Stark Gene: syne1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.127 SYNE1 Zornitza Stark gene: SYNE1 was added
gene: SYNE1 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SYNE1 were set to 23325900; 27086870
Phenotypes for gene: SYNE1 were set to Spinocerebellar ataxia, autosomal recessive 8, MIM# 610743
Review for gene: SYNE1 was set to GREEN
Added comment: Typical onset is in adulthood, but childhood-onset cases reported. Intra-familial variability.
Sources: Expert list
Ataxia - paediatric v0.126 KIF1C Bryony Thompson Marked gene: KIF1C as ready
Ataxia - paediatric v0.126 KIF1C Bryony Thompson Gene: kif1c has been classified as Green List (High Evidence).
Ataxia - paediatric v0.126 KIF1C Bryony Thompson Classified gene: KIF1C as Green List (high evidence)
Ataxia - paediatric v0.126 KIF1C Bryony Thompson Gene: kif1c has been classified as Green List (High Evidence).
Ataxia - paediatric v0.125 KIF1C Bryony Thompson gene: KIF1C was added
gene: KIF1C was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1C were set to Spastic ataxia 2, autosomal recessive MIM#611302
Review for gene: KIF1C was set to GREEN
Added comment: Onset usually in adolescence.
Sources: Expert list
Ataxia - paediatric v0.124 SYNGAP1 Zornitza Stark Marked gene: SYNGAP1 as ready
Ataxia - paediatric v0.124 SYNGAP1 Zornitza Stark Gene: syngap1 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.124 SYNGAP1 Zornitza Stark Publications for gene: SYNGAP1 were set to
Ataxia - paediatric v0.123 KCNC3 Bryony Thompson Marked gene: KCNC3 as ready
Ataxia - paediatric v0.123 KCNC3 Bryony Thompson Gene: kcnc3 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.123 KCNC3 Bryony Thompson Classified gene: KCNC3 as Green List (high evidence)
Ataxia - paediatric v0.123 KCNC3 Bryony Thompson Gene: kcnc3 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.122 KCNC3 Bryony Thompson gene: KCNC3 was added
gene: KCNC3 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNC3 were set to Spinocerebellar ataxia 13 MIM#605259
Review for gene: KCNC3 was set to GREEN
Added comment: Variable age at onset, ranging from childhood to late adulthood.
Sources: Expert list
Ataxia - paediatric v0.121 SYNGAP1 Zornitza Stark Classified gene: SYNGAP1 as Amber List (moderate evidence)
Ataxia - paediatric v0.121 SYNGAP1 Zornitza Stark Gene: syngap1 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.120 SYNGAP1 Zornitza Stark reviewed gene: SYNGAP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26989088; Phenotypes: Mental retardation, autosomal dominant 5, MIM# 612621; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - paediatric v0.120 ITPR1 Bryony Thompson Marked gene: ITPR1 as ready
Ataxia - paediatric v0.120 ITPR1 Bryony Thompson Gene: itpr1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.120 ITPR1 Bryony Thompson Classified gene: ITPR1 as Green List (high evidence)
Ataxia - paediatric v0.120 ITPR1 Bryony Thompson Gene: itpr1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.119 ITPR1 Bryony Thompson gene: ITPR1 was added
gene: ITPR1 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: ITPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ITPR1 were set to Spinocerebellar ataxia 15 MIM#606658; Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360
Review for gene: ITPR1 was set to GREEN
Added comment: Wide range of onset from birth to adulthood.
Sources: Expert list
Ataxia - paediatric v0.118 FXN Bryony Thompson Marked gene: FXN as ready
Ataxia - paediatric v0.118 FXN Bryony Thompson Gene: fxn has been classified as Green List (High Evidence).
Ataxia - paediatric v0.118 FXN Bryony Thompson Classified gene: FXN as Green List (high evidence)
Ataxia - paediatric v0.118 FXN Bryony Thompson Gene: fxn has been classified as Green List (High Evidence).
Ataxia - paediatric v0.117 FXN Bryony Thompson gene: FXN was added
gene: FXN was added to Ataxia - paediatric. Sources: Expert list
STR tags were added to gene: FXN.
Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FXN were set to Friedreich ataxia MIM#229300
Review for gene: FXN was set to GREEN
Added comment: Onset usually before adolescence. Most common genetic abnormality is the trinucleotide repeat expansion, but also SNVs and indels reported.
Sources: Expert list
Ataxia - paediatric v0.116 TBC1D23 Zornitza Stark Publications for gene: TBC1D23 were set to
Ataxia - paediatric v0.115 TBC1D23 Zornitza Stark reviewed gene: TBC1D23: Rating: GREEN; Mode of pathogenicity: None; Publications: 28823707, 28823706; Phenotypes: Pontocerebellar hypoplasia, type 11, MIM# 617695; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.115 TCTN1 Zornitza Stark changed review comment from: Rare cause of JBS, ataxia not specifically mentioned.; to: Rare cause of JBS, ataxia specifically mentioned in at least one individual.
Ataxia - paediatric v0.115 TCTN1 Zornitza Stark edited their review of gene: TCTN1: Changed rating: GREEN
Ataxia - paediatric v0.115 TCTN1 Zornitza Stark Classified gene: TCTN1 as Green List (high evidence)
Ataxia - paediatric v0.115 TCTN1 Zornitza Stark Gene: tctn1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.114 FLVCR1 Bryony Thompson Marked gene: FLVCR1 as ready
Ataxia - paediatric v0.114 FLVCR1 Bryony Thompson Gene: flvcr1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.114 FLVCR1 Bryony Thompson Classified gene: FLVCR1 as Green List (high evidence)
Ataxia - paediatric v0.114 FLVCR1 Bryony Thompson Gene: flvcr1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.113 FLVCR1 Bryony Thompson gene: FLVCR1 was added
gene: FLVCR1 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLVCR1 were set to Ataxia, posterior column, with retinitis pigmentosa MIM#609033
Review for gene: FLVCR1 was set to GREEN
Added comment: Onset usually in childhood.
Sources: Expert list
Ataxia - paediatric v0.112 FGF14 Bryony Thompson Marked gene: FGF14 as ready
Ataxia - paediatric v0.112 FGF14 Bryony Thompson Gene: fgf14 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.112 FGF14 Bryony Thompson Classified gene: FGF14 as Green List (high evidence)
Ataxia - paediatric v0.112 FGF14 Bryony Thompson Gene: fgf14 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.111 FGF14 Bryony Thompson gene: FGF14 was added
gene: FGF14 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: FGF14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGF14 were set to Spinocerebellar ataxia 27 MIM#609307
Review for gene: FGF14 was set to GREEN
Added comment: Onset in late-childhood to early adulthood (12 to 20 years).
Sources: Expert list
Ataxia - paediatric v0.110 TCTN1 Zornitza Stark Phenotypes for gene: TCTN1 were changed from Joubert syndrome 13 to Joubert syndrome 13, MIM# 614173
Ataxia - paediatric v0.109 TCTN1 Zornitza Stark Publications for gene: TCTN1 were set to 31302911; 28631893; 21725307; 26477546
Ataxia - paediatric v0.108 TCTN1 Zornitza Stark Publications for gene: TCTN1 were set to
Ataxia - paediatric v0.107 TCTN1 Zornitza Stark Classified gene: TCTN1 as Amber List (moderate evidence)
Ataxia - paediatric v0.107 TCTN1 Zornitza Stark Gene: tctn1 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.106 TCTN1 Zornitza Stark reviewed gene: TCTN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31302911, 28631893, 21725307, 26477546; Phenotypes: Joubert syndrome 13, MIM# 614173; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.106 EIF2B5 Bryony Thompson Marked gene: EIF2B5 as ready
Ataxia - paediatric v0.106 EIF2B5 Bryony Thompson Gene: eif2b5 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.106 EIF2B5 Bryony Thompson Classified gene: EIF2B5 as Green List (high evidence)
Ataxia - paediatric v0.106 EIF2B5 Bryony Thompson Gene: eif2b5 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.105 EIF2B5 Bryony Thompson gene: EIF2B5 was added
gene: EIF2B5 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B5 were set to Leukoencephalopathy with vanishing white matter MIM#603896
Review for gene: EIF2B5 was set to GREEN
Added comment: Ataxia is a prominent feature of the condition and onset usually in late infancy or childhood (1 to 6 years).
Sources: Expert list
Ataxia - paediatric v0.104 EIF2B4 Bryony Thompson Marked gene: EIF2B4 as ready
Ataxia - paediatric v0.104 EIF2B4 Bryony Thompson Gene: eif2b4 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.104 EIF2B4 Bryony Thompson Classified gene: EIF2B4 as Green List (high evidence)
Ataxia - paediatric v0.104 EIF2B4 Bryony Thompson Gene: eif2b4 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.103 EIF2B4 Bryony Thompson gene: EIF2B4 was added
gene: EIF2B4 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B4 were set to Leukoencephalopathy with vanishing white matter MIM#603896
Review for gene: EIF2B4 was set to GREEN
Added comment: Ataxia is a prominent feature of the condition and onset usually in late infancy or childhood (1 to 6 years).
Sources: Expert list
Ataxia - paediatric v0.102 TCTN2 Zornitza Stark Marked gene: TCTN2 as ready
Ataxia - paediatric v0.102 TCTN2 Zornitza Stark Gene: tctn2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.102 TCTN2 Zornitza Stark Phenotypes for gene: TCTN2 were changed from Joubert syndrome 24 to Joubert syndrome 24, MIM# 616654
Ataxia - paediatric v0.101 TCTN2 Zornitza Stark Publications for gene: TCTN2 were set to
Ataxia - paediatric v0.100 TCTN2 Zornitza Stark reviewed gene: TCTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25118024, 21565611; Phenotypes: Joubert syndrome 24, MIM# 616654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.100 EIF2B3 Bryony Thompson Marked gene: EIF2B3 as ready
Ataxia - paediatric v0.100 EIF2B3 Bryony Thompson Gene: eif2b3 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.100 EIF2B3 Bryony Thompson Classified gene: EIF2B3 as Green List (high evidence)
Ataxia - paediatric v0.100 EIF2B3 Bryony Thompson Gene: eif2b3 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.99 EIF2B3 Bryony Thompson gene: EIF2B3 was added
gene: EIF2B3 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B3 were set to Leukoencephalopathy with vanishing white matter MIM#603896
Review for gene: EIF2B3 was set to GREEN
Added comment: Ataxia is a prominent feature of the condition and onset usually in late infancy or childhood (1 to 6 years).
Sources: Expert list
Ataxia - paediatric v0.98 EIF2B2 Bryony Thompson Marked gene: EIF2B2 as ready
Ataxia - paediatric v0.98 EIF2B2 Bryony Thompson Gene: eif2b2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.98 EIF2B2 Bryony Thompson Classified gene: EIF2B2 as Green List (high evidence)
Ataxia - paediatric v0.98 EIF2B2 Bryony Thompson Gene: eif2b2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.97 EIF2B2 Bryony Thompson gene: EIF2B2 was added
gene: EIF2B2 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter MIM#603896
Review for gene: EIF2B2 was set to GREEN
Added comment: Ataxia is a prominent feature of the condition and onset usually in late infancy or childhood (1 to 6 years).
Sources: Expert list
Ataxia - paediatric v0.96 EIF2B1 Bryony Thompson Marked gene: EIF2B1 as ready
Ataxia - paediatric v0.96 EIF2B1 Bryony Thompson Gene: eif2b1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.96 EIF2B1 Bryony Thompson Classified gene: EIF2B1 as Green List (high evidence)
Ataxia - paediatric v0.96 EIF2B1 Bryony Thompson Gene: eif2b1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.95 EIF2B1 Bryony Thompson gene: EIF2B1 was added
gene: EIF2B1 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter MIM#603896
Review for gene: EIF2B1 was set to GREEN
Added comment: Ataxia is a prominent feature of the condition and onset usually in late infancy or childhood (1 to 6 years).
Sources: Expert list
Ataxia - paediatric v0.94 COA7 Bryony Thompson Marked gene: COA7 as ready
Ataxia - paediatric v0.94 COA7 Bryony Thompson Gene: coa7 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.94 COA7 Bryony Thompson Classified gene: COA7 as Green List (high evidence)
Ataxia - paediatric v0.94 COA7 Bryony Thompson Gene: coa7 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.93 COA7 Bryony Thompson gene: COA7 was added
gene: COA7 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387
Review for gene: COA7 was set to GREEN
Added comment: Onset usually in the first decade.
Sources: Expert list
Ataxia - paediatric v0.92 CACNA1G Bryony Thompson Marked gene: CACNA1G as ready
Ataxia - paediatric v0.92 CACNA1G Bryony Thompson Gene: cacna1g has been classified as Green List (High Evidence).
Ataxia - paediatric v0.92 CACNA1G Bryony Thompson Classified gene: CACNA1G as Green List (high evidence)
Ataxia - paediatric v0.92 CACNA1G Bryony Thompson Gene: cacna1g has been classified as Green List (High Evidence).
Ataxia - paediatric v0.91 CACNA1G Bryony Thompson gene: CACNA1G was added
gene: CACNA1G was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA1G were set to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits MIM#618087
Review for gene: CACNA1G was set to GREEN
Added comment: Onset of ataxia is soon after birth or in early infancy.
Sources: Expert list
Ataxia - paediatric v0.90 CACNA1A Bryony Thompson Marked gene: CACNA1A as ready
Ataxia - paediatric v0.90 CACNA1A Bryony Thompson Gene: cacna1a has been classified as Green List (High Evidence).
Ataxia - paediatric v0.90 CACNA1A Bryony Thompson Classified gene: CACNA1A as Green List (high evidence)
Ataxia - paediatric v0.90 CACNA1A Bryony Thompson Gene: cacna1a has been classified as Green List (High Evidence).
Ataxia - paediatric v0.89 CACNA1A Bryony Thompson gene: CACNA1A was added
gene: CACNA1A was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA1A were set to Episodic ataxia, type 2 MIM#108500
Review for gene: CACNA1A was set to GREEN
Added comment: Onset of episodic ataxia usually in childhood or adolescence.
Sources: Expert list
Ataxia - paediatric v0.88 TCTN3 Zornitza Stark Marked gene: TCTN3 as ready
Ataxia - paediatric v0.88 TCTN3 Zornitza Stark Gene: tctn3 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.88 ATP1A3 Bryony Thompson Marked gene: ATP1A3 as ready
Ataxia - paediatric v0.88 ATP1A3 Bryony Thompson Gene: atp1a3 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.88 TCTN3 Zornitza Stark Phenotypes for gene: TCTN3 were changed from Joubert syndrome 18 to Joubert syndrome 18, MIM# 614815; Orofaciodigital syndrome IV, MIM# 258860
Ataxia - paediatric v0.87 ATP1A3 Bryony Thompson Classified gene: ATP1A3 as Green List (high evidence)
Ataxia - paediatric v0.87 ATP1A3 Bryony Thompson Gene: atp1a3 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.86 TCTN3 Zornitza Stark Publications for gene: TCTN3 were set to
Ataxia - paediatric v0.85 TCTN3 Zornitza Stark reviewed gene: TCTN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22883145, 25118024; Phenotypes: Joubert syndrome 18, MIM# 614815, Orofaciodigital syndrome IV, MIM# 258860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.85 ATP1A3 Bryony Thompson gene: ATP1A3 was added
gene: ATP1A3 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATP1A3 were set to Alternating hemiplegia of childhood 2 MIM#614820; CAPOS syndrome MIM#601338
Review for gene: ATP1A3 was set to GREEN
Added comment: Onset of ataxia is usually in infancy or childhood.
Sources: Expert list
Ataxia - paediatric v0.84 ATG5 Bryony Thompson Publications for gene: ATG5 were set to 26812546
Ataxia - paediatric v0.83 ATG5 Bryony Thompson Marked gene: ATG5 as ready
Ataxia - paediatric v0.83 ATG5 Bryony Thompson Gene: atg5 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.83 ATG5 Bryony Thompson Classified gene: ATG5 as Amber List (moderate evidence)
Ataxia - paediatric v0.83 ATG5 Bryony Thompson Gene: atg5 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.82 ATG5 Bryony Thompson reviewed gene: ATG5: Rating: AMBER; Mode of pathogenicity: None; Publications: 16625204, 26812546; Phenotypes: Spinocerebellar ataxia, autosomal recessive 25 MIM#617584; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.82 ATM Bryony Thompson Marked gene: ATM as ready
Ataxia - paediatric v0.82 ATM Bryony Thompson Gene: atm has been classified as Green List (High Evidence).
Ataxia - paediatric v0.82 ATM Bryony Thompson Classified gene: ATM as Green List (high evidence)
Ataxia - paediatric v0.82 ATM Bryony Thompson Gene: atm has been classified as Green List (High Evidence).
Ataxia - paediatric v0.81 ATM Bryony Thompson gene: ATM was added
gene: ATM was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Ataxia-telangiectasia MIM#208900
Review for gene: ATM was set to GREEN
Added comment: Onset of ataxia is usually in childhood.
Sources: Expert list
Ataxia - paediatric v0.80 ANO10 Bryony Thompson Classified gene: ANO10 as Green List (high evidence)
Ataxia - paediatric v0.80 ANO10 Bryony Thompson Gene: ano10 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.79 ANO10 Bryony Thompson gene: ANO10 was added
gene: ANO10 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANO10 were set to Spinocerebellar ataxia, autosomal recessive 10 MIM#613728
Review for gene: ANO10 was set to GREEN
Added comment: Onset of ataxia is in adolescence or adulthood.
Sources: Expert list
Ataxia - paediatric v0.78 AFG3L2 Bryony Thompson Marked gene: AFG3L2 as ready
Ataxia - paediatric v0.78 AFG3L2 Bryony Thompson Gene: afg3l2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.78 AFG3L2 Bryony Thompson Classified gene: AFG3L2 as Green List (high evidence)
Ataxia - paediatric v0.78 AFG3L2 Bryony Thompson Gene: afg3l2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.77 THG1L Zornitza Stark Marked gene: THG1L as ready
Ataxia - paediatric v0.77 THG1L Zornitza Stark Gene: thg1l has been classified as Green List (High Evidence).
Ataxia - paediatric v0.77 THG1L Zornitza Stark Publications for gene: THG1L were set to
Ataxia - paediatric v0.76 THG1L Zornitza Stark reviewed gene: THG1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 27307223, 30214071, 31168944; Phenotypes: Cerebellar ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.76 TINF2 Zornitza Stark Marked gene: TINF2 as ready
Ataxia - paediatric v0.76 TINF2 Zornitza Stark Gene: tinf2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.76 TINF2 Zornitza Stark Publications for gene: TINF2 were set to
Ataxia - paediatric v0.75 TINF2 Zornitza Stark reviewed gene: TINF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18252230, 21477109, 18979121; Phenotypes: Revesz syndrome, MIM# 268130; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - paediatric v0.75 TMEM106B Zornitza Stark edited their review of gene: TMEM106B: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - paediatric v0.75 TMEM106B Zornitza Stark Marked gene: TMEM106B as ready
Ataxia - paediatric v0.75 TMEM106B Zornitza Stark Gene: tmem106b has been classified as Green List (High Evidence).
Ataxia - paediatric v0.75 TMEM106B Zornitza Stark Publications for gene: TMEM106B were set to
Ataxia - paediatric v0.74 TMEM106B Zornitza Stark reviewed gene: TMEM106B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29186371, 29444210; Phenotypes: Leukodystrophy, hypomyelinating, 16, MIM# 617964; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.74 TMEM138 Zornitza Stark Marked gene: TMEM138 as ready
Ataxia - paediatric v0.74 TMEM138 Zornitza Stark Gene: tmem138 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.74 TMEM138 Zornitza Stark Phenotypes for gene: TMEM138 were changed from Joubert syndrome 16 to Joubert syndrome 16, MIM# 614465
Ataxia - paediatric v0.73 TMEM138 Zornitza Stark Classified gene: TMEM138 as Amber List (moderate evidence)
Ataxia - paediatric v0.73 TMEM138 Zornitza Stark Gene: tmem138 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.72 TMEM138 Zornitza Stark reviewed gene: TMEM138: Rating: AMBER; Mode of pathogenicity: None; Publications: 22282472; Phenotypes: Joubert syndrome 16, MIM# 614465; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.72 TMEM216 Zornitza Stark Marked gene: TMEM216 as ready
Ataxia - paediatric v0.72 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.72 TMEM216 Zornitza Stark Phenotypes for gene: TMEM216 were changed from Joubert syndrome 2 to Joubert syndrome 2, MIM# 608091
Ataxia - paediatric v0.71 TMEM216 Zornitza Stark Publications for gene: TMEM216 were set to
Ataxia - paediatric v0.70 TMEM216 Zornitza Stark reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: None; Publications: 20036350, 20512146; Phenotypes: Joubert syndrome 2, MIM# 608091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.70 TMEM231 Zornitza Stark Marked gene: TMEM231 as ready
Ataxia - paediatric v0.70 TMEM231 Zornitza Stark Gene: tmem231 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.70 TMEM231 Zornitza Stark Phenotypes for gene: TMEM231 were changed from Joubert syndrome 20 to Joubert syndrome 20, MIM# 614970; Meckel syndrome 11 615397
Ataxia - paediatric v0.69 TMEM231 Zornitza Stark Classified gene: TMEM231 as Amber List (moderate evidence)
Ataxia - paediatric v0.69 TMEM231 Zornitza Stark Gene: tmem231 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.68 TMEM231 Zornitza Stark reviewed gene: TMEM231: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 20, MIM# 614970, Meckel syndrome 11 615397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.68 TMEM237 Zornitza Stark Marked gene: TMEM237 as ready
Ataxia - paediatric v0.68 TMEM237 Zornitza Stark Gene: tmem237 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.68 TMEM237 Zornitza Stark Phenotypes for gene: TMEM237 were changed from Joubert syndrome 14 to Joubert syndrome 14, MIM# 614424
Ataxia - paediatric v0.67 TMEM237 Zornitza Stark reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 14, MIM# 614424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.67 TMEM240 Zornitza Stark Marked gene: TMEM240 as ready
Ataxia - paediatric v0.67 TMEM240 Zornitza Stark Gene: tmem240 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.67 TMEM240 Zornitza Stark Classified gene: TMEM240 as Green List (high evidence)
Ataxia - paediatric v0.67 TMEM240 Zornitza Stark Gene: tmem240 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.66 TMEM240 Zornitza Stark gene: TMEM240 was added
gene: TMEM240 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: TMEM240 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM240 were set to 25070513
Phenotypes for gene: TMEM240 were set to Spinocerebellar ataxia 21, MIM# 607454
Review for gene: TMEM240 was set to GREEN
Added comment: At least 8 unrelated families reported. Onset in the first decades of life, including in childhood, of slowly progressive cerebellar ataxia, which is associated with cognitive impairment in most patients
Sources: Expert list
Ataxia - paediatric v0.65 TMEM67 Zornitza Stark Marked gene: TMEM67 as ready
Ataxia - paediatric v0.65 TMEM67 Zornitza Stark Gene: tmem67 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.65 TMEM67 Zornitza Stark Phenotypes for gene: TMEM67 were changed from Joubert syndrome 6 to Joubert syndrome 6, MIM# 610688
Ataxia - paediatric v0.64 TMEM67 Zornitza Stark reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 6, MIM# 610688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.64 TSFM Zornitza Stark Marked gene: TSFM as ready
Ataxia - paediatric v0.64 TSFM Zornitza Stark Gene: tsfm has been classified as Green List (High Evidence).
Ataxia - paediatric v0.64 TSFM Zornitza Stark reviewed gene: TSFM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 3, MIM# 610505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.64 AFG3L2 Bryony Thompson gene: AFG3L2 was added
gene: AFG3L2 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: AFG3L2 were set to 20725928
Phenotypes for gene: AFG3L2 were set to Spastic ataxia 5, autosomal recessive MIM#614487; Spinocerebellar ataxia 28 MIM#610246
Review for gene: AFG3L2 was set to GREEN
Added comment: The onset of the recessive form of ataxia is usually in infancy or childhood. The dominantly inherited form of ataxia is mostly adult onset, but onset in childhood has been reported.
Sources: Expert list
Ataxia - paediatric v0.63 TTPA Zornitza Stark Marked gene: TTPA as ready
Ataxia - paediatric v0.63 TTPA Zornitza Stark Gene: ttpa has been classified as Green List (High Evidence).
Ataxia - paediatric v0.63 TTPA Zornitza Stark Classified gene: TTPA as Green List (high evidence)
Ataxia - paediatric v0.63 TTPA Zornitza Stark Gene: ttpa has been classified as Green List (High Evidence).
Ataxia - paediatric v0.62 TTPA Zornitza Stark gene: TTPA was added
gene: TTPA was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTPA were set to Ataxia with isolated vitamin E deficiency, MIM# 277460
Review for gene: TTPA was set to GREEN
Added comment: Ataxia secondary to vitamin E deficiency. Variable age of onset, but paediatric cases reported.
Sources: Expert list
Ataxia - paediatric v0.61 UBA5 Zornitza Stark Marked gene: UBA5 as ready
Ataxia - paediatric v0.61 UBA5 Zornitza Stark Gene: uba5 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.61 UBA5 Zornitza Stark Classified gene: UBA5 as Amber List (moderate evidence)
Ataxia - paediatric v0.61 UBA5 Zornitza Stark Gene: uba5 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.60 UBA5 Zornitza Stark reviewed gene: UBA5: Rating: AMBER; Mode of pathogenicity: None; Publications: 26872069, 27545681, 27545674; Phenotypes: Spinocerebellar ataxia, autosomal recessive 24, MIM# 617133, Epileptic encephalopathy, early infantile, 44 617132; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.60 VPS13D Zornitza Stark Marked gene: VPS13D as ready
Ataxia - paediatric v0.60 VPS13D Zornitza Stark Gene: vps13d has been classified as Green List (High Evidence).
Ataxia - paediatric v0.60 VPS13D Zornitza Stark Classified gene: VPS13D as Green List (high evidence)
Ataxia - paediatric v0.60 VPS13D Zornitza Stark Gene: vps13d has been classified as Green List (High Evidence).
Ataxia - paediatric v0.59 VPS13D Zornitza Stark gene: VPS13D was added
gene: VPS13D was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: VPS13D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS13D were set to 29604224; 29518281
Phenotypes for gene: VPS13D were set to Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317
Review for gene: VPS13D was set to GREEN
Added comment: Seven unrelated families reported, some functional data. Age at onset is highly variable: some have onset in early childhood with delayed walking, whereas others have onset of gait difficulties in adulthood. Additional features may include dysarthria, oculomotor abnormalities, distal sensory impairment, dystonia, chorea, hypotonia, pyramidal signs, and cerebellar atrophy on brain imaging. The disorder is slowly progressive. Some individuals with onset in childhood may have global developmental delay with mild intellectual disability.
Sources: Expert list
Ataxia - paediatric v0.58 VRK1 Zornitza Stark Marked gene: VRK1 as ready
Ataxia - paediatric v0.58 VRK1 Zornitza Stark Gene: vrk1 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.58 VRK1 Zornitza Stark Publications for gene: VRK1 were set to
Ataxia - paediatric v0.57 VRK1 Zornitza Stark Classified gene: VRK1 as Amber List (moderate evidence)
Ataxia - paediatric v0.57 VRK1 Zornitza Stark Gene: vrk1 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.56 VRK1 Zornitza Stark reviewed gene: VRK1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19646678, 21937992, 25609612, 24126608, 27281532; Phenotypes: Pontocerebellar hypoplasia type 1A, MIM# 607596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.56 ABHD12 Bryony Thompson Classified gene: ABHD12 as Green List (high evidence)
Ataxia - paediatric v0.56 ABHD12 Bryony Thompson Gene: abhd12 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.55 ABHD12 Bryony Thompson gene: ABHD12 was added
gene: ABHD12 was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABHD12 were set to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674
Review for gene: ABHD12 was set to GREEN
Added comment: Ataxia is a prominent feature of the condition and onset is usually in childhood or adolescence.
Sources: Expert list
Ataxia - paediatric v0.54 AAAS Bryony Thompson Classified gene: AAAS as Green List (high evidence)
Ataxia - paediatric v0.54 AAAS Bryony Thompson Gene: aaas has been classified as Green List (High Evidence).
Ataxia - paediatric v0.53 AAAS Bryony Thompson gene: AAAS was added
gene: AAAS was added to Ataxia - paediatric. Sources: Expert list
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AAAS were set to Achalasia-addisonianism-alacrimia syndrome MIM#231550
Review for gene: AAAS was set to GREEN
Added comment: Ataxia is a feature of the condition and onset is usually in childhood.
Sources: Expert list
Ataxia - paediatric v0.51 PITRM1 Bryony Thompson Marked gene: PITRM1 as ready
Ataxia - paediatric v0.51 PITRM1 Bryony Thompson Gene: pitrm1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.51 PITRM1 Bryony Thompson Classified gene: PITRM1 as Green List (high evidence)
Ataxia - paediatric v0.51 PITRM1 Bryony Thompson Gene: pitrm1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.50 PITRM1 Bryony Thompson gene: PITRM1 was added
gene: PITRM1 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: PITRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PITRM1 were set to 26697887; 29764912
Phenotypes for gene: PITRM1 were set to Cerebellar atrophy; mental retardation; spinocerebellar ataxia; cognitive decline; psychosis
Review for gene: PITRM1 was set to GREEN
Added comment: Three families with two unique variants and in vitro functional assays. Cases and mouse model have spinocerebellar ataxia as a prominent feature of the phenotype. No OMIM phenotype.
Sources: Literature
Ataxia - paediatric v0.48 Bryony Thompson Panel name changed from Ataxia - paediatric_RMH to Ataxia - paediatric
Panel types changed to Royal Melbourne Hospital; Rare Disease
Ataxia - paediatric v0.47 ACBD5 Bryony Thompson changed review comment from: 2 unrelated families and no functional evidence
Sources: Expert list; to: 2 unrelated families and no functional evidence linking the gene to an ataxia phenotype
Sources: Expert list
Ataxia - paediatric v0.47 WDPCP Bryony Thompson Marked gene: WDPCP as ready
Ataxia - paediatric v0.47 WDPCP Bryony Thompson Gene: wdpcp has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.47 WDPCP Bryony Thompson gene: WDPCP was added
gene: WDPCP was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDPCP were set to ?Bardet-Biedl syndrome 15, 615992; ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085
Review for gene: WDPCP was set to RED
Added comment: Ataxia not a reported phenotypic feature associated with this gene.`
Sources: Expert list
Ataxia - paediatric v0.46 VRK1 Bryony Thompson gene: VRK1 was added
gene: VRK1 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VRK1 were set to Pontocerebellar hypoplasia type 1A, 607596
Review for gene: VRK1 was set to RED
Added comment: Ataxia can be a feature of the phenotype. Biallelic variants cause pontocerebellar hypoplasia and death before age 12, thus not a relevant gene for testing in an adult hospital.
Sources: Expert list
Ataxia - paediatric v0.45 TTI1 Bryony Thompson Marked gene: TTI1 as ready
Ataxia - paediatric v0.45 TTI1 Bryony Thompson Gene: tti1 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.45 TTI1 Bryony Thompson gene: TTI1 was added
gene: TTI1 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: TTI1 was set to Unknown
Review for gene: TTI1 was set to RED
Added comment: No reported association with ataxia.
Sources: Expert list
Ataxia - paediatric v0.44 TTC8 Bryony Thompson gene: TTC8 was added
gene: TTC8 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC8 were set to Bardet-Biedl syndrome 8, 615985
Review for gene: TTC8 was set to RED
Added comment: Ataxia is not a reported feature of this subtype of BBS
Sources: Expert list
Ataxia - paediatric v0.43 TSEN34 Bryony Thompson gene: TSEN34 was added
gene: TSEN34 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN34 were set to ?Pontocerebellar hypoplasia type 2C, 612390
Review for gene: TSEN34 was set to RED
Added comment: No publications associated with ataxia, and ataxia is not a prominent feature of the condition.
Sources: Expert list
Ataxia - paediatric v0.42 TSEN2 Bryony Thompson gene: TSEN2 was added
gene: TSEN2 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN2 were set to Pontocerebellar hypoplasia type 2B, 612389
Review for gene: TSEN2 was set to RED
Added comment: Ataxia is not a prominent feature of this phenotype.
Sources: Expert list
Ataxia - paediatric v0.41 TRIM32 Bryony Thompson gene: TRIM32 was added
gene: TRIM32 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM32 were set to Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110; ?Bardet-Biedl syndrome 11, 615988
Review for gene: TRIM32 was set to RED
Added comment: Ataxia is not a reported feature associated with this gene.
Sources: Expert list
Ataxia - paediatric v0.40 SVBP Bryony Thompson Classified gene: SVBP as Green List (high evidence)
Ataxia - paediatric v0.40 SVBP Bryony Thompson Gene: svbp has been classified as Green List (High Evidence).
Ataxia - paediatric v0.39 SVBP Bryony Thompson gene: SVBP was added
gene: SVBP was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: SVBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SVBP were set to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569
Review for gene: SVBP was set to GREEN
Added comment: Ataxia is a prominent feature of the phenotype for this condition.
Sources: Expert list
Ataxia - paediatric v0.38 SNAP25 Bryony Thompson Marked gene: SNAP25 as ready
Ataxia - paediatric v0.38 SNAP25 Bryony Thompson Gene: snap25 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.38 SNAP25 Bryony Thompson Classified gene: SNAP25 as Green List (high evidence)
Ataxia - paediatric v0.38 SNAP25 Bryony Thompson Gene: snap25 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.37 SNAP25 Bryony Thompson gene: SNAP25 was added
gene: SNAP25 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SNAP25 were set to 29491473; 25381298; 17283335
Phenotypes for gene: SNAP25 were set to ?Myasthenic syndrome, congenital, 18, 616330; cerebellar ataxia and seizures
Review for gene: SNAP25 was set to GREEN
Added comment: Phenotype in 3 reported cases and mouse model includes ataxia as a feature.
Sources: Expert list
Ataxia - paediatric v0.36 SAR1B Bryony Thompson gene: SAR1B was added
gene: SAR1B was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAR1B were set to Chylomicron retention disease, 246700
Review for gene: SAR1B was set to RED
Added comment: Ataxia is not a reported prominent feature of the condition. Neurological symptoms are secondary to malabsorption.
Sources: Expert list
Ataxia - paediatric v0.35 RARS2 Bryony Thompson gene: RARS2 was added
gene: RARS2 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RARS2 were set to 31429931
Phenotypes for gene: RARS2 were set to Pontocerebellar hypoplasia, type 6, 611523; early onset cerebellar ataxia
Review for gene: RARS2 was set to RED
Added comment: Ataxia is not a prominent feature of PCH. A homozygous putative pathogenic variant has been identified in one family with early onset cerebellar ataxia.
Sources: Expert list
Ataxia - paediatric v0.34 KCNQ2 Bryony Thompson Classified gene: KCNQ2 as Amber List (moderate evidence)
Ataxia - paediatric v0.34 KCNQ2 Bryony Thompson Gene: kcnq2 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.33 KCNQ2 Bryony Thompson reviewed gene: KCNQ2: Rating: AMBER; Mode of pathogenicity: None; Publications: 22169383, 20962009, 10575255; Phenotypes: Early infantile epileptic encephalopathy 7, MIM#613720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ataxia - paediatric v0.33 Bryony Thompson removed gene:CAPN1 from the panel
Ataxia - paediatric v0.32 PNKD Bryony Thompson Classified gene: PNKD as Green List (high evidence)
Ataxia - paediatric v0.32 PNKD Bryony Thompson Gene: pnkd has been classified as Green List (High Evidence).
Ataxia - paediatric v0.31 PNKD Bryony Thompson gene: PNKD was added
gene: PNKD was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PNKD were set to Paroxysmal nonkinesigenic dyskinesia 1, 118800
Review for gene: PNKD was set to GREEN
Added comment: Condition has many overlapping features with episodic ataxia.
Sources: Expert list
Ataxia - paediatric v0.30 PCYT2 Bryony Thompson gene: PCYT2 was added
gene: PCYT2 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCYT2 were set to 31637422
Phenotypes for gene: PCYT2 were set to global developmental delay; regression; spastic parapesis or tetraparesis; epilepsy; progressive cerebral and cerebellar atrophy
Review for gene: PCYT2 was set to RED
Added comment: Ataxia is not a prominent feature of the condition.
Sources: Expert list
Ataxia - paediatric v0.29 MKKS Bryony Thompson Classified gene: MKKS as Amber List (moderate evidence)
Ataxia - paediatric v0.29 MKKS Bryony Thompson Gene: mkks has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.28 MKKS Bryony Thompson Marked gene: MKKS as ready
Ataxia - paediatric v0.28 MKKS Bryony Thompson Gene: mkks has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.28 MKKS Bryony Thompson gene: MKKS was added
gene: MKKS was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MKKS were set to 15637713
Phenotypes for gene: MKKS were set to Bardet-Biedl syndrome 6, 605231
Review for gene: MKKS was set to AMBER
Added comment: Ataxia is not reported as a prominent feature of the phenotype. However, ataxia has been reported in at least 1 case with BBS6. There were four BBS6 cases reported in the publication, and 18/21 BBS cases had ataxia, therefore it is unknown if all 4 cases had ataxia.
Sources: Expert list
Ataxia - paediatric v0.27 EXOSC3 Bryony Thompson Marked gene: EXOSC3 as ready
Ataxia - paediatric v0.27 EXOSC3 Bryony Thompson Gene: exosc3 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.27 EXOSC3 Bryony Thompson changed review comment from: Ataxia is not a prominent feature of the phenotype
Sources: Expert list; to: Ataxia is not a prominent feature of the phenotype
Sources: Expert list
Ataxia - paediatric v0.27 EXOSC3 Bryony Thompson gene: EXOSC3 was added
gene: EXOSC3 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1B, 614678
Added comment: Ataxia is not a prominent feature of the phenotype
Sources: Expert list
Ataxia - paediatric v0.26 ELOVL1 Bryony Thompson gene: ELOVL1 was added
gene: ELOVL1 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: ELOVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ELOVL1 were set to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, 618527
Review for gene: ELOVL1 was set to RED
Added comment: Ataxia is not a prominent feature of this condition.
Sources: Expert list
Ataxia - paediatric v0.25 CYP2U1 Bryony Thompson gene: CYP2U1 was added
gene: CYP2U1 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP2U1 were set to Spastic paraplegia 56, autosomal recessive, 615030
Added comment: Ataxia is not a prominent feature of the phenotype
Sources: Expert list
Ataxia - paediatric v0.24 COQ5 Bryony Thompson gene: COQ5 was added
gene: COQ5 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: COQ5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ5 were set to 29044765
Phenotypes for gene: COQ5 were set to Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability
Review for gene: COQ5 was set to RED
Added comment: Only one reported family, without functional assays linking the gene to ataxia.
Sources: Expert list
Ataxia - paediatric v0.23 CHMP1A Bryony Thompson gene: CHMP1A was added
gene: CHMP1A was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: CHMP1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHMP1A were set to Pontocerebellar hypoplasia, type 8, 614961
Review for gene: CHMP1A was set to RED
Added comment: Ataxia is not a prominent feature of the phenotype.
Sources: Expert list
Ataxia - paediatric v0.22 CCDC28B Bryony Thompson gene: CCDC28B was added
gene: CCDC28B was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: CCDC28B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC28B were set to {Bardet-Biedl syndrome 1, modifier of}, 209900
Review for gene: CCDC28B was set to RED
Added comment: Modifier of BBS
Sources: Expert list
Ataxia - paediatric v0.21 BBS9 Bryony Thompson gene: BBS9 was added
gene: BBS9 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS9 were set to Bardet-Biedl syndrome 9, 615986
Review for gene: BBS9 was set to RED
Added comment: Ataxia is not a reported feature of the phenotype for this subtype of BBS.
Sources: Expert list
Ataxia - paediatric v0.20 BBS7 Bryony Thompson gene: BBS7 was added
gene: BBS7 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS7 were set to Bardet-Biedl syndrome 7, 615984
Review for gene: BBS7 was set to RED
Added comment: Ataxia is not a reported feature of the phenotype of this subtype of BBS.
Sources: Expert list
Ataxia - paediatric v0.19 BBS5 Bryony Thompson gene: BBS5 was added
gene: BBS5 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBS5 were set to 15637713
Phenotypes for gene: BBS5 were set to Bardet-Biedl syndrome 5, 615983
Review for gene: BBS5 was set to RED
Added comment: Ataxia is not a common feature reported with this subtype of BBS. One family with linkage to BBS5 (not sequenced) has been reported with ataxia.
Sources: Expert list
Ataxia - paediatric v0.18 BBS4 Bryony Thompson gene: BBS4 was added
gene: BBS4 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS4 were set to Bardet-Biedl syndrome 4, 615982
Review for gene: BBS4 was set to RED
Added comment: Ataxia is not a reported feature of the phenotype of this subtype of BBS.
Sources: Expert list
Ataxia - paediatric v0.17 BBS2 Bryony Thompson gene: BBS2 was added
gene: BBS2 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBS2 were set to 15637713
Phenotypes for gene: BBS2 were set to Bardet-Biedl syndrome 2, 615981
Review for gene: BBS2 was set to RED
Added comment: Ataxia is not a reported common feature of this subtype of BBS. Ataxia may be present in one family with BBS2, but not stated outright in the publication (18/21 families had ataxia and there was only one BBS2 family).
Sources: Expert list
Ataxia - paediatric v0.16 BBS12 Bryony Thompson gene: BBS12 was added
gene: BBS12 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS12 were set to Bardet-Biedl syndrome 12, 615989
Added comment: Ataxia is not a reported feature of the phenotype.
Sources: Expert list
Ataxia - paediatric v0.15 BBS10 Bryony Thompson gene: BBS10 was added
gene: BBS10 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS10 were set to Bardet-Biedl syndrome 10, 615987
Review for gene: BBS10 was set to RED
Added comment: Ataxia is not a reported feature of condition. Only reported as a common feature of BBS1.
Sources: Expert list
Ataxia - paediatric v0.14 ARL6 Bryony Thompson Marked gene: ARL6 as ready
Ataxia - paediatric v0.14 ARL6 Bryony Thompson Gene: arl6 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.14 ARL6 Bryony Thompson gene: ARL6 was added
gene: ARL6 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL6 were set to Bardet-Biedl syndrome 3, 600151
Review for gene: ARL6 was set to RED
Added comment: Ataxia is not a reported feature of condition. Only reported as a common feature of BBS1.
Sources: Expert list
Ataxia - paediatric v0.13 AMPD2 Bryony Thompson Marked gene: AMPD2 as ready
Ataxia - paediatric v0.13 AMPD2 Bryony Thompson Gene: ampd2 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.13 AMPD2 Bryony Thompson gene: AMPD2 was added
gene: AMPD2 was added to Ataxia - paediatric_RMH. Sources: Other
Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMPD2 were set to Pontocerebellar hypoplasia, type 9, 615809
Review for gene: AMPD2 was set to RED
Added comment: Ataxia is not a reported feature of this condition.
Sources: Other
Ataxia - paediatric v0.12 BBS1 Bryony Thompson Marked gene: BBS1 as ready
Ataxia - paediatric v0.12 BBS1 Bryony Thompson Gene: bbs1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.12 BBS1 Bryony Thompson Classified gene: BBS1 as Green List (high evidence)
Ataxia - paediatric v0.12 BBS1 Bryony Thompson Gene: bbs1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.11 BBS1 Bryony Thompson gene: BBS1 was added
gene: BBS1 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBS1 were set to 15637713
Phenotypes for gene: BBS1 were set to Bardet-Biedl syndrome 1, 209900
Review for gene: BBS1 was set to GREEN
Added comment: Ataxia is a common feature of the phenotype
Sources: Expert list
Ataxia - paediatric v0.10 ZNF423 Bryony Thompson Marked gene: ZNF423 as ready
Ataxia - paediatric v0.10 ZNF423 Bryony Thompson Gene: znf423 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.10 ZNF423 Bryony Thompson Classified gene: ZNF423 as Red List (low evidence)
Ataxia - paediatric v0.10 ZNF423 Bryony Thompson Gene: znf423 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.9 ZNF423 Bryony Thompson reviewed gene: ZNF423: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 19, 614844; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ataxia - paediatric v0.8 DOCK3 Bryony Thompson Classified gene: DOCK3 as Green List (high evidence)
Ataxia - paediatric v0.8 DOCK3 Bryony Thompson Gene: dock3 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.7 DOCK3 Bryony Thompson gene: DOCK3 was added
gene: DOCK3 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: DOCK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK3 were set to Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292
Review for gene: DOCK3 was set to GREEN
Added comment: Ataxia is a feature of the phenotype
Sources: Expert list
Ataxia - paediatric v0.6 ATP2B3 Bryony Thompson Marked gene: ATP2B3 as ready
Ataxia - paediatric v0.6 ATP2B3 Bryony Thompson Gene: atp2b3 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.6 ATP2B3 Bryony Thompson Classified gene: ATP2B3 as Amber List (moderate evidence)
Ataxia - paediatric v0.6 ATP2B3 Bryony Thompson Gene: atp2b3 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.5 ATP2B3 Bryony Thompson reviewed gene: ATP2B3: Rating: AMBER; Mode of pathogenicity: None; Publications: 22912398, 27653636, 27632770; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Ataxia - paediatric v0.5 ARMC9 Zornitza Stark reviewed gene: ARMC9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 30, MIM#617622; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.5 AP1S2 Bryony Thompson Marked gene: AP1S2 as ready
Ataxia - paediatric v0.5 AP1S2 Bryony Thompson Gene: ap1s2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.5 AP1S2 Bryony Thompson Classified gene: AP1S2 as Green List (high evidence)
Ataxia - paediatric v0.5 AP1S2 Bryony Thompson Gene: ap1s2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.4 AP1S2 Bryony Thompson gene: AP1S2 was added
gene: AP1S2 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AP1S2 were set to Mental retardation, X-linked syndromic 5, MIM#304340
Review for gene: AP1S2 was set to GREEN
Added comment: Ataxia is part of the phenotype
Sources: Expert list
Ataxia - paediatric v0.3 ACBD5 Bryony Thompson Marked gene: ACBD5 as ready
Ataxia - paediatric v0.3 ACBD5 Bryony Thompson Gene: acbd5 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.3 ACBD5 Bryony Thompson Classified gene: ACBD5 as Amber List (moderate evidence)
Ataxia - paediatric v0.3 ACBD5 Bryony Thompson Gene: acbd5 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.2 ACBD5 Bryony Thompson Classified gene: ACBD5 as Red List (low evidence)
Ataxia - paediatric v0.2 ACBD5 Bryony Thompson Gene: acbd5 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.1 ACBD5 Bryony Thompson gene: ACBD5 was added
gene: ACBD5 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: ACBD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACBD5 were set to 27799409; 23105016
Phenotypes for gene: ACBD5 were set to Leukodystrophy; syndromic cleft palate; ataxia; retinal dystrophy
Review for gene: ACBD5 was set to AMBER
Added comment: 2 unrelated families and no functional evidence
Sources: Expert list
Ataxia - paediatric v0.0 ZNF592 Bryony Thompson gene: ZNF592 was added
gene: ZNF592 was added to Ataxia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: ZNF592 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF592 were set to 20531441; 26123727
Phenotypes for gene: ZNF592 were set to Spinocerebellar ataxia, autosomal recessive 5; Galloway-Mowat Syndrome 1, 251300
Ataxia - paediatric v0.0 ZNF423 Bryony Thompson gene: ZNF423 was added
gene: ZNF423 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ZNF423 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZNF423 were set to Nephronophthisis 14
Ataxia - paediatric v0.0 WWOX Bryony Thompson gene: WWOX was added
gene: WWOX was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WWOX were set to Autosomal recessive spinocerebellar ataxia 12, 6143232; Early infantile epileptic encephalopathy 28, 616211; Autosomal recessive spinocerebellar ataxia 12, 614322
Ataxia - paediatric v0.0 WFS1 Bryony Thompson gene: WFS1 was added
gene: WFS1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WFS1 were set to Wolfram syndrome 1, 222300
Ataxia - paediatric v0.0 WDR81 Bryony Thompson gene: WDR81 was added
gene: WDR81 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR81 were set to Congenital hydrocephalus 3 with brain anomalies, 617967; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185; Cerebellar ataxia, mental retardation and dysequilibrium syndrome 2, 610185
Ataxia - paediatric v0.0 WDR73 Bryony Thompson gene: WDR73 was added
gene: WDR73 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR73 were set to Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature; Galloway-Mowat Syndrome 1, 251300
Ataxia - paediatric v0.0 VLDLR Bryony Thompson gene: VLDLR was added
gene: VLDLR was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VLDLR were set to Cerebellar ataxia, mental retardation and dysequilibirum syndrome 1, 224050; Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050
Ataxia - paediatric v0.0 UCHL1 Bryony Thompson gene: UCHL1 was added
gene: UCHL1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: UCHL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UCHL1 were set to Early onset ataxia and optic neuropathy; Autosomal recessive spastic paraplegia 79, 615491
Ataxia - paediatric v0.0 UBR4 Bryony Thompson gene: UBR4 was added
gene: UBR4 was added to Ataxia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: UBR4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UBR4 were set to 23982692
Phenotypes for gene: UBR4 were set to ?Episodic ataxia; Episodic ataxia type 8, 616055
Ataxia - paediatric v0.0 UBA5 Bryony Thompson gene: UBA5 was added
gene: UBA5 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBA5 were set to 26872069; 29902590
Phenotypes for gene: UBA5 were set to ?Autosomal recessive spinocerebellar ataxia 24, 617133; Early infantile epileptic encephalopathy 44, 617132
Ataxia - paediatric v0.0 TWNK Bryony Thompson gene: TWNK was added
gene: TWNK was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7, 271245; Ataxia Neuropathy Spectrum Disorders, Dominant; Progressive external ophthalmoplegia with mitochondrial DNA deletions, 609286; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Perrault syndrome 5, 616138; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Spinocerebellar Ataxia, Recessive
Ataxia - paediatric v0.0 TUBB4A Bryony Thompson gene: TUBB4A was added
gene: TUBB4A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB4A were set to Leukodystrophy, hypomyelinating, 6, 612438; Dystonia 4, 128101, Hypomyelinating leukodystrophy 6, 612438; Dystonia 4, torsion, autosomal dominant, 128101
Ataxia - paediatric v0.0 TUBB2A Bryony Thompson gene: TUBB2A was added
gene: TUBB2A was added to Ataxia - paediatric_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: TUBB2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBB2A were set to 29547997
Phenotypes for gene: TUBB2A were set to ?progressive spastic ataxia syndrome resembling sacsinopathy; Complex cortical dysplasia with other brain malformations 5, 615763
Ataxia - paediatric v0.0 TUBA1A Bryony Thompson gene: TUBA1A was added
gene: TUBA1A was added to Ataxia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: TUBA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBA1A were set to 21403111
Phenotypes for gene: TUBA1A were set to Lissencephaly 3, 611603
Ataxia - paediatric v0.0 TTC19 Bryony Thompson gene: TTC19 was added
gene: TTC19 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC19 were set to Mitochondrial complex III deficiency nuclear type II, 615157; Mitochondrial complex III deficiency, nuclear type 2, 615157
Ataxia - paediatric v0.0 TSFM Bryony Thompson gene: TSFM was added
gene: TSFM was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3
Ataxia - paediatric v0.0 TPP1 Bryony Thompson gene: TPP1 was added
gene: TPP1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPP1 were set to Autosomal recessive spinocerebellar ataxia 7, 609270; Neuronal ceroid lipofuscinosis, 204500; Spinocerebellar ataxia, autosomal recessive 7, 609270; Ceroid lipofuscinosis, neuronal, 2, 204500
Ataxia - paediatric v0.0 TMEM67 Bryony Thompson gene: TMEM67 was added
gene: TMEM67 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM67 were set to Joubert syndrome 6
Ataxia - paediatric v0.0 TMEM237 Bryony Thompson gene: TMEM237 was added
gene: TMEM237 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM237 were set to Joubert syndrome 14
Ataxia - paediatric v0.0 TMEM231 Bryony Thompson gene: TMEM231 was added
gene: TMEM231 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM231 were set to Joubert syndrome 20
Ataxia - paediatric v0.0 TMEM216 Bryony Thompson gene: TMEM216 was added
gene: TMEM216 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM216 were set to Joubert syndrome 2
Ataxia - paediatric v0.0 TMEM138 Bryony Thompson gene: TMEM138 was added
gene: TMEM138 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TMEM138 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM138 were set to Joubert syndrome 16
Ataxia - paediatric v0.0 TMEM106B Bryony Thompson gene: TMEM106B was added
gene: TMEM106B was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TMEM106B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TMEM106B were set to Hypomyelinating leukodystrophy 16, 617964
Ataxia - paediatric v0.0 TINF2 Bryony Thompson gene: TINF2 was added
gene: TINF2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TINF2 were set to Autosomal dominant dyskeratosis congenita 3, 613990; Revesz syndrome, 268130
Ataxia - paediatric v0.0 THG1L Bryony Thompson gene: THG1L was added
gene: THG1L was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: THG1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: THG1L were set to Cerebellar ataxia with developmental delay
Ataxia - paediatric v0.0 TDP2 Bryony Thompson gene: TDP2 was added
gene: TDP2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: TDP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDP2 were set to 31410782; 30109272; 24658003
Phenotypes for gene: TDP2 were set to Spinocerebellar ataxia, autosomal recessive 23
Ataxia - paediatric v0.0 TCTN3 Bryony Thompson gene: TCTN3 was added
gene: TCTN3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN3 were set to Joubert syndrome 18
Ataxia - paediatric v0.0 TCTN2 Bryony Thompson gene: TCTN2 was added
gene: TCTN2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN2 were set to Joubert syndrome 24
Ataxia - paediatric v0.0 TCTN1 Bryony Thompson gene: TCTN1 was added
gene: TCTN1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN1 were set to Joubert syndrome 13
Ataxia - paediatric v0.0 TBC1D23 Bryony Thompson gene: TBC1D23 was added
gene: TBC1D23 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TBC1D23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D23 were set to Pontocerebellar hypoplasia type 11, 617695
Ataxia - paediatric v0.0 SYNGAP1 Bryony Thompson gene: SYNGAP1 was added
gene: SYNGAP1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SYNGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SYNGAP1 were set to Autosomal dominant mental retardation 5, 612621
Ataxia - paediatric v0.0 SRD5A3 Bryony Thompson gene: SRD5A3 was added
gene: SRD5A3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SRD5A3 were set to Kahrizi syndrome, 612713; Congenital disorder of glycosylation, type Iq, 612379; Congenital disorder of glycosylation type Iq, 612379
Ataxia - paediatric v0.0 SQSTM1 Bryony Thompson gene: SQSTM1 was added
gene: SQSTM1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SQSTM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SQSTM1 were set to Neurodegeneration with ataxia, dystonia, and gaze palsy, 617145
Ataxia - paediatric v0.0 SPR Bryony Thompson gene: SPR was added
gene: SPR was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SPR were set to Dopa-responsive dystonia due to sepiaterin reductase deficiency, 612716; Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716
Ataxia - paediatric v0.0 SNX14 Bryony Thompson gene: SNX14 was added
gene: SNX14 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNX14 were set to Autosomal recessive spinocerebellar ataxia 20, 616354; Autosomal recessive spinocerebellar ataxia (#616354)
Ataxia - paediatric v0.0 SLC9A6 Bryony Thompson gene: SLC9A6 was added
gene: SLC9A6 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: SLC9A6 were set to Mental retardation, X-linked syndromic, Christianson type, 300243
Ataxia - paediatric v0.0 SLC9A1 Bryony Thompson gene: SLC9A1 was added
gene: SLC9A1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC9A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC9A1 were set to Lichtenstein-Knorr Syndrome
Ataxia - paediatric v0.0 SLC52A2 Bryony Thompson gene: SLC52A2 was added
gene: SLC52A2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A2 were set to Bwon-Vialetto-Van Laere syndrome 2, 614707
Ataxia - paediatric v0.0 SLC2A1 Bryony Thompson gene: SLC2A1 was added
gene: SLC2A1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A1 were set to dystonia 9; GLUT1 deficiency syndrome 2, 612126; GLUT1 DEFICIENCY SYNDROME 1; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 deficiency syndrome 1, 606777; Dystonia 9, 601042; EPILEPSY, IDIOPATHIC GENERALIZED
Ataxia - paediatric v0.0 SLC25A46 Bryony Thompson gene: SLC25A46 was added
gene: SLC25A46 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A46 were set to Hereditary motor and sensory neuropathy type VIB, 616505
Ataxia - paediatric v0.0 SLC1A3 Bryony Thompson gene: SLC1A3 was added
gene: SLC1A3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC1A3 were set to Episodic ataxia, type 6; Episodic ataxia type 6, 612656
Ataxia - paediatric v0.0 SLC17A5 Bryony Thompson gene: SLC17A5 was added
gene: SLC17A5 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC17A5 were set to Salla disease; Sialic acid storage disease, severe infantile type
Ataxia - paediatric v0.0 SIL1 Bryony Thompson gene: SIL1 was added
gene: SIL1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome, 248800
Ataxia - paediatric v0.0 SCYL1 Bryony Thompson gene: SCYL1 was added
gene: SCYL1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCYL1 were set to Spinocerebellar ataxia, autosomal recessive 21, 616719
Ataxia - paediatric v0.0 SCN8A Bryony Thompson gene: SCN8A was added
gene: SCN8A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN8A were set to epilepsy; Benign familial infantile seizures 5, 617080; paroxysmal kinesigenic dyskinesias; Epileptic encephalopathy 13, 614558; Cognitive impairment with or without cerebellar ataxia, 614306
Ataxia - paediatric v0.0 SCN2A Bryony Thompson gene: SCN2A was added
gene: SCN2A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN2A were set to Early infantile epileptic encephalopathy 11
Ataxia - paediatric v0.0 SCN1A Bryony Thompson gene: SCN1A was added
gene: SCN1A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN1A were set to Familial hemiplegic migraine 3, 609634; familial hemiplegic migraine 3; Familial febrile seziures 3A, 604403; several epilepsy, convulsion and migraine disorders.; Generalised epilepsy with febrile seizures type 2, 604403; Epileptic encephalopathy 6, 607208; Dravet syndrome
Ataxia - paediatric v0.0 RUBCN Bryony Thompson gene: RUBCN was added
gene: RUBCN was added to Ataxia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: RUBCN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RUBCN were set to 20826435; 23728897
Phenotypes for gene: RUBCN were set to ?Spinocerebellar ataxia, autosomal recessive 15
Ataxia - paediatric v0.0 RPGRIP1L Bryony Thompson gene: RPGRIP1L was added
gene: RPGRIP1L was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1L were set to Joubert syndrome 7
Ataxia - paediatric v0.0 RORA Bryony Thompson gene: RORA was added
gene: RORA was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RORA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RORA were set to Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060
Ataxia - paediatric v0.0 PTRH2 Bryony Thompson gene: PTRH2 was added
gene: PTRH2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTRH2 were set to Infantile multi-system neurologic, endocrine, and pancreatic disease, 616263
Ataxia - paediatric v0.0 PRICKLE1 Bryony Thompson gene: PRICKLE1 was added
gene: PRICKLE1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PRICKLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRICKLE1 were set to Progressive myoclonic epilepsy 1B, 612437; Progressive Myoclonus Epilepsy with Ataxia
Ataxia - paediatric v0.0 POLR3B Bryony Thompson gene: POLR3B was added
gene: POLR3B was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
Ataxia - paediatric v0.0 POLR3A Bryony Thompson gene: POLR3A was added
gene: POLR3A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3A were set to Autosomal Recessive Ataxia; Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Hypomyelinating leukodystrophy 7 with or without oligodontia and/or hypogonadotrophic hypogonadism, 607694
Ataxia - paediatric v0.0 PNKP Bryony Thompson gene: PNKP was added
gene: PNKP was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNKP were set to Microcephaly, seizures and developmental delay, 613402; Ataxia-oculomotor apraxia 4, 616267; Ataxia with oculomotor apraxia 4 (#616267)
Ataxia - paediatric v0.0 PMPCB Bryony Thompson gene: PMPCB was added
gene: PMPCB was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PMPCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMPCB were set to Multiple mitochondrial dysfunctions syndrome 6, 617954
Ataxia - paediatric v0.0 PMPCA Bryony Thompson gene: PMPCA was added
gene: PMPCA was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMPCA were set to Autosomal recessive spinocerebellar ataxia 2, 213200; Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.
Ataxia - paediatric v0.0 PLA2G6 Bryony Thompson gene: PLA2G6 was added
gene: PLA2G6 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLA2G6 were set to Autosomal recessive Parkinson disease 14, 612953; Parkinson disease 14 (#612953); Infantile neuroaxonal dystrophy 1 (#256600); Infantile neuroaxonal dystrophy 1, 256600; Neurodegeneration with brain iron accumulation 2B (#610217); Neurodegeneration with brain iron accumulation 2B, 610217
Ataxia - paediatric v0.0 PHYH Bryony Thompson gene: PHYH was added
gene: PHYH was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHYH were set to Refsum disease
Ataxia - paediatric v0.0 PEX7 Bryony Thompson gene: PEX7 was added
gene: PEX7 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to Refsum disease; Peroxisome biogenesis disorder 9B
Ataxia - paediatric v0.0 PEX16 Bryony Thompson gene: PEX16 was added
gene: PEX16 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX16 were set to Zellweger syndrome (614876); Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis; Peroxisome biogenesis disorder 8A, 614876; Peroxisome biogenesis disorder 8B, 614877
Ataxia - paediatric v0.0 PCDH12 Bryony Thompson gene: PCDH12 was added
gene: PCDH12 was added to Ataxia - paediatric_RMH. Sources: Expert Review Red,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCDH12 were set to 30459466
Phenotypes for gene: PCDH12 were set to cerebellar ataxia, dystonia, retinopathy, and dysmorphism
Ataxia - paediatric v0.0 PAX6 Bryony Thompson gene: PAX6 was added
gene: PAX6 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PAX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAX6 were set to Aniridia, 106210; Aniridia, Cerebellar Ataxia, And Mental Retardation
Ataxia - paediatric v0.0 OPHN1 Bryony Thompson gene: OPHN1 was added
gene: OPHN1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: OPHN1 were set to X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance, 300486; Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
Ataxia - paediatric v0.0 OPA3 Bryony Thompson gene: OPA3 was added
gene: OPA3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501; Optic atrophy 3 with cataract, 165300; 3-methylglutaconic aciduria type III, 258501; Costeff syndrome
Ataxia - paediatric v0.0 OPA1 Bryony Thompson gene: OPA1 was added
gene: OPA1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: OPA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: OPA1 were set to Behr syndrome, 210000; Optic atrophy plus syndrome, 125250; Optic atrophy 1, 165500
Ataxia - paediatric v0.0 OFD1 Bryony Thompson gene: OFD1 was added
gene: OFD1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: OFD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OFD1 were set to Joubert syndrome 10
Ataxia - paediatric v0.0 NPHP1 Bryony Thompson gene: NPHP1 was added
gene: NPHP1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP1 were set to Joubert syndrome 4
Ataxia - paediatric v0.0 NPC2 Bryony Thompson gene: NPC2 was added
gene: NPC2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC2 were set to Niemann-Pick disease type C2, 607625; Niemann-Pick disease type C2 (#607625)
Ataxia - paediatric v0.0 NPC1 Bryony Thompson gene: NPC1 was added
gene: NPC1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC1 were set to Niemann-Pick disease type C1, 257220; Niemann-Pick disease types C1 and D (#257220)
Ataxia - paediatric v0.0 NKX6-2 Bryony Thompson gene: NKX6-2 was added
gene: NKX6-2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX6-2 were set to Autosomal recessive spastic ataxia 8 with hypomyelinating leukodystrophy, 617560; Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
Ataxia - paediatric v0.0 NKX2-1 Bryony Thompson gene: NKX2-1 was added
gene: NKX2-1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NKX2-1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: NKX2-1 were set to Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978; Choreoathetosis, hypothyroidism and neonatal respiratory distress, 610978; Chorea, hereditary benign 118700; Hereditary bening chorea, 118700
Ataxia - paediatric v0.0 NHLRC1 Bryony Thompson gene: NHLRC1 was added
gene: NHLRC1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHLRC1 were set to Progressive myoclonic epilepsy 2B, Lafora, 254780; Epilepsy, progressive myoclonic 2B (Lafora) 254780
Ataxia - paediatric v0.0 MVK Bryony Thompson gene: MVK was added
gene: MVK was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MVK were set to Mevalonic aciduria 610377
Ataxia - paediatric v0.0 MTTP Bryony Thompson gene: MTTP was added
gene: MTTP was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTTP were set to Abetalipoproteinemia, 200100; Abetalipoproteinemia
Ataxia - paediatric v0.0 MTPAP Bryony Thompson gene: MTPAP was added
gene: MTPAP was added to Ataxia - paediatric_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTPAP were set to 20970105; 26319014; 25008111
Phenotypes for gene: MTPAP were set to ?Ataxia, spastic, 4,; Autosomal recessive spastic ataxia 4, 613672
Ataxia - paediatric v0.0 MTCL1 Bryony Thompson gene: MTCL1 was added
gene: MTCL1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: MTCL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTCL1 were set to 30548255; 28283581
Phenotypes for gene: MTCL1 were set to slowly progressive cerebellar ataxia, mild intellectual disability, seizures in childhood and episodic pain in the lower limbs
Ataxia - paediatric v0.0 MRE11 Bryony Thompson gene: MRE11 was added
gene: MRE11 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRE11 were set to Ataxia-Telangiectasia-Like Disorder; Ataxia-telangiectasia-like disorder 1, 604391
Ataxia - paediatric v0.0 MMACHC Bryony Thompson gene: MMACHC was added
gene: MMACHC was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria cblC type, 277400; Methylmalonic aciduria and homocystinuria, cblC type, 277400; Ataxia and hypogonadism
Ataxia - paediatric v0.0 MKS1 Bryony Thompson gene: MKS1 was added
gene: MKS1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKS1 were set to Joubert syndrome 28
Ataxia - paediatric v0.0 MAPK8IP3 Bryony Thompson gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAPK8IP3 were set to Intellectual Disability with variable brain anomalies
Ataxia - paediatric v0.0 LARS2 Bryony Thompson gene: LARS2 was added
gene: LARS2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS2 were set to Perrault syndrome 4
Ataxia - paediatric v0.0 LAMA1 Bryony Thompson gene: LAMA1 was added
gene: LAMA1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMA1 were set to 26932191
Phenotypes for gene: LAMA1 were set to Poretti-Boltshauser syndrome; Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Ataxia - paediatric v0.0 KIF7 Bryony Thompson gene: KIF7 was added
gene: KIF7 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF7 were set to Koubert syndrome 12; Acrocallosal syndrome, Schinzel type
Ataxia - paediatric v0.0 KCNQ2 Bryony Thompson gene: KCNQ2 was added
gene: KCNQ2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ2 were set to Early infantile encephalopathy 7, 613720; Myokymia, 121200
Ataxia - paediatric v0.0 KCNJ10 Bryony Thompson gene: KCNJ10 was added
gene: KCNJ10 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ10 were set to Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome; SESAME syndrome, 612780
Ataxia - paediatric v0.0 KCNA2 Bryony Thompson gene: KCNA2 was added
gene: KCNA2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNA2 were set to Early infantile encephalopathy 32, 616366
Ataxia - paediatric v0.0 KCNA1 Bryony Thompson gene: KCNA1 was added
gene: KCNA1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNA1 were set to EPISODIC ATAXIA, TYPE 1; myokymia with periodic ataxia; Episodic ataxia/myokymia syndrome, 160120; Episodic ataxia/myokymia syndrome
Ataxia - paediatric v0.0 IRF2BPL Bryony Thompson gene: IRF2BPL was added
gene: IRF2BPL was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: IRF2BPL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IRF2BPL were set to Neurodevelopmental disorder with regression, abnormal movement, loss of speech and seizures, 618088
Ataxia - paediatric v0.0 INPP5E Bryony Thompson gene: INPP5E was added
gene: INPP5E was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPP5E were set to Joubert syndrome 1
Ataxia - paediatric v0.0 HEXB Bryony Thompson gene: HEXB was added
gene: HEXB was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms, 268800; Sandhoff disease, 268800
Ataxia - paediatric v0.0 HEXA Bryony Thompson gene: HEXA was added
gene: HEXA was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXA were set to GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800
Ataxia - paediatric v0.0 HARS2 Bryony Thompson gene: HARS2 was added
gene: HARS2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HARS2 were set to Perrault syndrome 2
Ataxia - paediatric v0.0 GSS Bryony Thompson gene: GSS was added
gene: GSS was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GSS were set to Gluthathione synthetase deficiency
Ataxia - paediatric v0.0 GRM1 Bryony Thompson gene: GRM1 was added
gene: GRM1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRM1 were set to Spinocerebellar ataxia, autosomal recessive 13; Spinocerebellar ataxia 44, 617691, autosomal recessive spinocerebellar ataxia type 13, 614831
Ataxia - paediatric v0.0 GRID2 Bryony Thompson gene: GRID2 was added
gene: GRID2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GRID2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRID2 were set to Spinocerebellar ataxia, autosomal recessive 18, 616204
Ataxia - paediatric v0.0 GPAA1 Bryony Thompson gene: GPAA1 was added
gene: GPAA1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPAA1 were set to Glycosylphosphatidylinositol biosynthesis defect 15, 617810
Ataxia - paediatric v0.0 GOSR2 Bryony Thompson gene: GOSR2 was added
gene: GOSR2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GOSR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GOSR2 were set to Epilepsy, progressive myoclonic 6, 614018; Progressive myoclonic epilepsy 6, 614018
Ataxia - paediatric v0.0 GJC2 Bryony Thompson gene: GJC2 was added
gene: GJC2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GJC2 were set to Hypomyelinating leukodystrophy 2, 608804; Leukodystrophy, hypomyelinating, 2; Autosomal Recessive Ataxia; Spastic paraplegia 44, 613206
Ataxia - paediatric v0.0 GBA2 Bryony Thompson gene: GBA2 was added
gene: GBA2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA2 were set to Spastic paraplegia 46, autosomal recessive, 614409; Spastic paraplegia 46, 614409
Ataxia - paediatric v0.0 FOLR1 Bryony Thompson gene: FOLR1 was added
gene: FOLR1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, 613068; Neurodegeneration due to cerebral folate transport deficiency
Ataxia - paediatric v0.0 FBXL4 Bryony Thompson gene: FBXL4 was added
gene: FBXL4 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBXL4 were set to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
Ataxia - paediatric v0.0 EPM2A Bryony Thompson gene: EPM2A was added
gene: EPM2A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPM2A were set to Progressive myoclonic epilepsy 2A, Lafora, 254780; Epilepsy, progressive myoclonic 2A (Lafora) 254780
Ataxia - paediatric v0.0 EBF3 Bryony Thompson gene: EBF3 was added
gene: EBF3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EBF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EBF3 were set to Hypotonia, ataxia and delayed development syndrome, 617330
Ataxia - paediatric v0.0 DNAJC19 Bryony Thompson gene: DNAJC19 was added
gene: DNAJC19 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V 610198; dilated cardiomyopathy with ataxia (DCMA) syndrome; 3-methylglutaconic aciduria type V, 610198
Ataxia - paediatric v0.0 DDHD2 Bryony Thompson gene: DDHD2 was added
gene: DDHD2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDHD2 were set to Autosomal recessive paraplegia 54 (#615033). Complex form of disease ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132.; Spastic paraplegia 54
Ataxia - paediatric v0.0 DARS2 Bryony Thompson gene: DARS2 was added
gene: DARS2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS2 were set to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation; Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Ataxia - paediatric v0.0 CYP27A1 Bryony Thompson gene: CYP27A1 was added
gene: CYP27A1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis, 213700
Ataxia - paediatric v0.0 CWF19L1 Bryony Thompson gene: CWF19L1 was added
gene: CWF19L1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CWF19L1 were set to Spinocerebellar ataxia, autosomal recessive 17, 616127; Autosomal recessive spinocerebellar ataxia type 17, 616127
Ataxia - paediatric v0.0 CSTB Bryony Thompson gene: CSTB was added
gene: CSTB was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSTB were set to Progressive myoclonic epilepsy 1A, 254800; Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800
Ataxia - paediatric v0.0 C5orf42 Bryony Thompson gene: C5orf42 was added
gene: C5orf42 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C5orf42 were set to Joubert syndrome 17
Ataxia - paediatric v0.0 COX20 Bryony Thompson gene: COX20 was added
gene: COX20 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX20 were set to Mitochondrial complex IV deficiency, 220110; Mitochondrial complex IV deficiency
Ataxia - paediatric v0.0 COQ8A Bryony Thompson gene: COQ8A was added
gene: COQ8A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ8A were set to Primary coenzyme Q10 deficiency 4, 612016; Spinocerebellar Ataxia Type; Coenzyme Q10 deficiency, primary 4, 612016
Ataxia - paediatric v0.0 CLPP Bryony Thompson gene: CLPP was added
gene: CLPP was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLPP were set to Perrault syndrome 3
Ataxia - paediatric v0.0 CLN6 Bryony Thompson gene: CLN6 was added
gene: CLN6 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN6 were set to Ceroid neuronal lipofuscinosis 6, 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300; Ceroid neuronal lipofuscinosis kufs type, 204300; Ceroid lipofuscinosis, neuronal, 6, 601780
Ataxia - paediatric v0.0 CLN5 Bryony Thompson gene: CLN5 was added
gene: CLN5 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN5 were set to Ceroid lipofuscinosis neuronal 5
Ataxia - paediatric v0.0 CEP41 Bryony Thompson gene: CEP41 was added
gene: CEP41 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP41 were set to Joubert syndrome 15
Ataxia - paediatric v0.0 CEP290 Bryony Thompson gene: CEP290 was added
gene: CEP290 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP290 were set to Joubert syndrome 5
Ataxia - paediatric v0.0 CC2D2A Bryony Thompson gene: CC2D2A was added
gene: CC2D2A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D2A were set to Joubert syndrome 9
Ataxia - paediatric v0.0 CASK Bryony Thompson gene: CASK was added
gene: CASK was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: CASK were set to FG syndrome 4, 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
Ataxia - paediatric v0.0 CAPN1 Bryony Thompson gene: CAPN1 was added
gene: CAPN1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CAPN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAPN1 were set to Spastic paraplegia type 76, 616907
Ataxia - paediatric v0.0 CAMTA1 Bryony Thompson gene: CAMTA1 was added
gene: CAMTA1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CAMTA1 were set to Cerebellarataxia, nonprogressive, with mental retardation, 614756; Cerebellar ataxia with mental retardation, 614756
Ataxia - paediatric v0.0 CA8 Bryony Thompson gene: CA8 was added
gene: CA8 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CA8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA8 were set to Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3; Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227
Ataxia - paediatric v0.0 ATP8A2 Bryony Thompson gene: ATP8A2 was added
gene: ATP8A2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP8A2 were set to Cerebellar ataxia, mental retardation and dysequilibirum syndrome 4
Ataxia - paediatric v0.0 ATP2B3 Bryony Thompson gene: ATP2B3 was added
gene: ATP2B3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: ATP2B3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ATP2B3 were set to Spinocerebellar ataxia, X-linked 1
Ataxia - paediatric v0.0 ATG5 Bryony Thompson gene: ATG5 was added
gene: ATG5 was added to Ataxia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: ATG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG5 were set to 26812546
Phenotypes for gene: ATG5 were set to ?Spinocerebellar ataxia, autosomal recessive 25
Ataxia - paediatric v0.0 ATCAY Bryony Thompson gene: ATCAY was added
gene: ATCAY was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATCAY was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATCAY were set to Cayman Ataxia, 601238; Cerebellar Ataxia, Cayman type; Ataxia, cerebellar, Cayman type
Ataxia - paediatric v0.0 ARSA Bryony Thompson gene: ARSA was added
gene: ARSA was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Metachromatic Leukodystrophy, 250100; Metachromatic leukodystrophy (#250100)
Ataxia - paediatric v0.0 ARMC9 Bryony Thompson gene: ARMC9 was added
gene: ARMC9 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARMC9 were set to Joubert syndrome 30
Ataxia - paediatric v0.0 ARL13B Bryony Thompson gene: ARL13B was added
gene: ARL13B was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL13B were set to Joubert syndrome 8
Ataxia - paediatric v0.0 APTX Bryony Thompson gene: APTX was added
gene: APTX was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; Ataxia with Oculomotor Apraxia; Early onset ataxia with oculomotor apraxia and hypoalbuminemia
Ataxia - paediatric v0.0 ALDH5A1 Bryony Thompson gene: ALDH5A1 was added
gene: ALDH5A1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH5A1 were set to Succinate-semialdehyde dehydrogenase deficiency
Ataxia - paediatric v0.0 AHI1 Bryony Thompson gene: AHI1 was added
gene: AHI1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AHI1 were set to Joubert syndrome 3
Ataxia - paediatric v0.0 ADPRHL2 Bryony Thompson gene: ADPRHL2 was added
gene: ADPRHL2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ADPRHL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADPRHL2 were set to Neurodegeneration, childhood-onset, stress-induced with variable ataxia and seizures, 618170
Ataxia - paediatric v0.0 ADGRG1 Bryony Thompson gene: ADGRG1 was added
gene: ADGRG1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRG1 were set to Polymicrogyria, Frontoparietal, 606854; Polymicrogyria, perisylvian type, 615752
Ataxia - paediatric v0.0 ACO2 Bryony Thompson gene: ACO2 was added
gene: ACO2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACO2 were set to Infantile cerebellar-retinal degeneration
Ataxia - paediatric v0.0 ABCB7 Bryony Thompson gene: ABCB7 was added
gene: ABCB7 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ABCB7 were set to Anemia, sideroblastic, with ataxia; Sideroblastic Anemia and Ataxia; Anemia, sideroblast with ataxia, 300135
Ataxia - paediatric v0.0 Bryony Thompson Added panel Ataxia - paediatric_RMH