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Ataxia - adult onset v1.16 PNPT1 Zornitza Stark Publications for gene: PNPT1 were set to 35411967
Ataxia - adult onset v1.15 PNPT1 Chris Ciotta reviewed gene: PNPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 37935417; Phenotypes: Spinocerebellar ataxia 25 (MIM#608703); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - adult onset v1.15 FDXR Zornitza Stark Marked gene: FDXR as ready
Ataxia - adult onset v1.15 FDXR Zornitza Stark Gene: fdxr has been classified as Amber List (Moderate Evidence).
Ataxia - adult onset v1.15 FDXR Zornitza Stark Phenotypes for gene: FDXR were changed from Auditory neuropathy and optic atrophy, 617717 to Auditory neuropathy and optic atrophy, 617717; Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887
Ataxia - adult onset v1.14 FDXR Zornitza Stark Publications for gene: FDXR were set to
Ataxia - adult onset v1.13 FDXR Zornitza Stark Classified gene: FDXR as Amber List (moderate evidence)
Ataxia - adult onset v1.13 FDXR Zornitza Stark Gene: fdxr has been classified as Amber List (Moderate Evidence).
Ataxia - adult onset v1.12 FDXR Zornitza Stark changed review comment from: Multiple reports of individuals with extra-ocular features, including ID and regression; microcephaly. Ataxia reported in multiple individuals.; to: Multiple reports of individuals with extra-ocular features, including ID and regression; microcephaly. Ataxia reported in multiple individuals, though largely paediatric.
Ataxia - adult onset v1.12 FDXR Zornitza Stark edited their review of gene: FDXR: Added comment: Multiple reports of individuals with extra-ocular features, including ID and regression; microcephaly. Ataxia reported in multiple individuals.; Changed rating: AMBER; Changed publications: 30250212, 28965846, 29040572, 33348459, 37046037, 37481223; Changed phenotypes: Auditory neuropathy and optic atrophy, MIM#617717, Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887
Ataxia - adult onset v1.12 TUBA4A Bryony Thompson edited their review of gene: TUBA4A: Changed mode of pathogenicity: Other
Ataxia - adult onset v1.12 TUBA4A Bryony Thompson Marked gene: TUBA4A as ready
Ataxia - adult onset v1.12 TUBA4A Bryony Thompson Gene: tuba4a has been classified as Green List (High Evidence).
Ataxia - adult onset v1.12 TUBA4A Bryony Thompson Classified gene: TUBA4A as Green List (high evidence)
Ataxia - adult onset v1.12 TUBA4A Bryony Thompson Gene: tuba4a has been classified as Green List (High Evidence).
Ataxia - adult onset v1.11 TUBA4A Bryony Thompson gene: TUBA4A was added
gene: TUBA4A was added to Ataxia - adult onset. 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
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 - adult onset v1.10 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 - adult onset v1.9 CHCHD10 Bryony Thompson Marked gene: CHCHD10 as ready
Ataxia - adult onset v1.9 CHCHD10 Bryony Thompson Gene: chchd10 has been classified as Red List (Low Evidence).
Ataxia - adult onset v1.9 CHCHD10 Bryony Thompson gene: CHCHD10 was added
gene: CHCHD10 was added to Ataxia - adult onset. Sources: Literature
Mode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHCHD10 were set to 24934289
Phenotypes for gene: CHCHD10 were set to autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0014532
Review for gene: CHCHD10 was set to RED
Added comment: A single family with ataxia as a feature of the phenotype.
Sources: Literature
Ataxia - adult onset v1.8 SCA4_ZFHX3_GGC Bryony Thompson Marked STR: SCA4_ZFHX3_GGC as ready
Ataxia - adult onset v1.8 SCA4_ZFHX3_GGC Bryony Thompson Str: sca4_zfhx3_ggc has been classified as Green List (High Evidence).
Ataxia - adult onset v1.8 SCA4_ZFHX3_GGC Bryony Thompson Classified STR: SCA4_ZFHX3_GGC as Green List (high evidence)
Ataxia - adult onset v1.8 SCA4_ZFHX3_GGC Bryony Thompson Str: sca4_zfhx3_ggc has been classified as Green List (High Evidence).
Ataxia - adult onset v1.7 SCA4_ZFHX3_GGC Bryony Thompson STR: SCA4_ZFHX3_GGC was added
STR: SCA4_ZFHX3_GGC was added to Ataxia - adult onset. Sources: Literature
Mode of inheritance for STR: SCA4_ZFHX3_GGC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA4_ZFHX3_GGC were set to 38035881; 38197134
Phenotypes for STR: SCA4_ZFHX3_GGC were set to spinocerebellar ataxia type 4 MONDO:0010847
Review for STR: SCA4_ZFHX3_GGC was set to GREEN
STR: SCA4_ZFHX3_GGC was marked as clinically relevant
Added comment: PMID: 38035881 - repeat expansion is identified in 5 Swedish ataxia families that developed balance and gait disturbances at 15 to 60 years of age and had sensory neuropathy and slow saccades.
PMID: 38197134 - Poly-glycine GGC expansion in the last coding exon of ZFHX3 was identified in the original SCA4 Utah pedigree (Swedish origin) in the region of high linkage identified on 16q22. The expansion was also identified in an Iowa ataxia pedigree of Swedish ancestry. The expansion wasn’t identified in 11,258 exomes, 7,650 WGS probands without neurological phenotype, or 803 individuals with ataxia. Grch38 chr16:72787695–72787758
Normal allele <30 repeats, 21 repeats is the most common (derived from 33,094 individuals)
Undefined pathogenic 30-48 repeats
Definitive pathogenicity 48+ repeats
Sources: Literature
Ataxia - adult onset v1.6 COQ4 Zornitza Stark Marked gene: COQ4 as ready
Ataxia - adult onset v1.6 COQ4 Zornitza Stark Gene: coq4 has been classified as Green List (High Evidence).
Ataxia - adult onset v1.6 COQ4 Zornitza Stark Classified gene: COQ4 as Green List (high evidence)
Ataxia - adult onset v1.6 COQ4 Zornitza Stark Gene: coq4 has been classified as Green List (High Evidence).
Ataxia - adult onset v1.5 COQ4 Zornitza Stark gene: COQ4 was added
gene: COQ4 was added to Ataxia - adult onset. Sources: Expert Review
Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ4 were set to 36047608; 38014483; 38013626
Phenotypes for gene: COQ4 were set to Spastic ataxia 10, autosomal recessive, MIM# 620666
Review for gene: COQ4 was set to GREEN
Added comment: PMIDs 36047608;38014483;38013626: more than 10 families reported with more limited spastic ataxia phenotype, onset from infancy to adulthood.
Sources: Expert Review
Ataxia - adult onset v1.4 CCDC88C Zornitza Stark Marked gene: CCDC88C as ready
Ataxia - adult onset v1.4 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Ataxia - adult onset v1.4 RFC1 Dean Phelan Deleted their review
Ataxia - adult onset v1.4 CANVAS Dean Phelan reviewed STR: CANVAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37450567; Phenotypes: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (MIM:614575); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - adult onset v1.4 RFC1 Dean Phelan reviewed gene: RFC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37450567; Phenotypes: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (MIM:614575); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - adult onset v1.4 SCA27B Bryony Thompson Marked STR: SCA27B as ready
Ataxia - adult onset v1.4 SCA27B Bryony Thompson Str: sca27b has been classified as Green List (High Evidence).
Ataxia - adult onset v1.4 SCA27B Bryony Thompson Classified STR: SCA27B as Green List (high evidence)
Ataxia - adult onset v1.4 SCA27B Bryony Thompson Str: sca27b has been classified as Green List (High Evidence).
Ataxia - adult onset v1.3 SCA27B Bryony Thompson STR: SCA27B was added
STR: SCA27B was added to Ataxia - adult onset. Sources: Literature
Mode of inheritance for STR: SCA27B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA27B were set to 37165652; 36516086; 36493768
Phenotypes for STR: SCA27B were set to Spinocerebellar ataxia type 27B MONDO:0012247; Spinocerebellar ataxia 50; late-onset cerebellar ataxias (LOCAs)
Review for STR: SCA27B was set to GREEN
STR: SCA27B was marked as clinically relevant
Added comment: NM_175929.3(FGF14):c.208+239747CTT[X]
Expansions of 250 or more GAA repeat units were associated with late-onset cerebellar ataxia in a French-Canadian (OR: 105.60 [95% CI=31.09-334.20], p<0.001) and a German (OR: 8.76 [95% CI=3.45-20.84], p<0.001) case-control series. Additionally, expanded alleles greater than (GAA)332 are pathogenic and fully penetrant in a combined Australian and German dataset (p = 6.0 × 10−8, OR = 72 [95% CI = 4.3–1,227]). Whereas, alleles in the range of (GAA)250-334 are likely to be pathogenic with reduced penetrance (p = 0.0015, OR = 3.6 [95% CI = 1.6–7.9]).
250-300 repeats in the incompletely penetrant range
>300 is fully penetrant for ataxia
Sources: Literature
Ataxia - adult onset v1.2 NPTX1 Ain Roesley Marked gene: NPTX1 as ready
Ataxia - adult onset v1.2 NPTX1 Ain Roesley Gene: nptx1 has been classified as Green List (High Evidence).
Ataxia - adult onset v1.2 NPTX1 Ain Roesley Classified gene: NPTX1 as Green List (high evidence)
Ataxia - adult onset v1.2 NPTX1 Ain Roesley Gene: nptx1 has been classified as Green List (High Evidence).
Ataxia - adult onset v1.1 NPTX1 Ain Roesley gene: NPTX1 was added
gene: NPTX1 was added to Ataxia - adult onset. Sources: Literature
Mode of inheritance for gene: NPTX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NPTX1 were set to 34788392; 35288776; 35285082; 35560436
Phenotypes for gene: NPTX1 were set to cerebellar ataxia MONDO#0000437, NPTX1-related
Review for gene: NPTX1 was set to GREEN
gene: NPTX1 was marked as current diagnostic
Added comment: PMID:34788392
5 families with multigenerational segregations - late onset ataxia
4 families with p.(Gly389Arg) + 1x p.(Glu327Gly)
functional studies done

Note: case report of a family member published elsewhere (PMID:35288776)

PMID:35285082
1x de novo in a male with late-onset, slowly progressive cerebellar ataxia, oculomotor apraxia, choreiform dyskinesias, and cerebellar cognitive affective syndrome
p.(Arg143Leu)

PMID:35560436
1x de novo in a female with early-onset ataxia and cerebellar atrophy since infancy
p.(Gln370Arg)
Sources: Literature
Ataxia - adult onset v1.0 Bryony Thompson promoted panel to version 1.0
Ataxia - adult onset v0.177 SETX Bryony Thompson Marked gene: SETX as ready
Ataxia - adult onset v0.177 SETX Bryony Thompson Gene: setx has been classified as Green List (High Evidence).
Ataxia - adult onset v0.177 SETX Bryony Thompson Publications for gene: SETX were set to
Ataxia - adult onset v0.176 SETX Bryony Thompson reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: None; Publications: 14770181, 20301333; Phenotypes: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MONDO:0018996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Ataxia - adult onset v0.176 PRNP Bryony Thompson Marked gene: PRNP as ready
Ataxia - adult onset v0.176 PRNP Bryony Thompson Gene: prnp has been classified as Green List (High Evidence).
Ataxia - adult onset v0.176 PRNP Bryony Thompson Publications for gene: PRNP were set to
Ataxia - adult onset v0.175 PRNP Bryony Thompson reviewed gene: PRNP: Rating: GREEN; Mode of pathogenicity: None; Publications: 2564168, 34324063, 20301407; Phenotypes: Inherited Creutzfeldt-Jakob disease MONDO:0007403, ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Ataxia - adult onset v0.175 NPC1 Bryony Thompson Marked gene: NPC1 as ready
Ataxia - adult onset v0.175 NPC1 Bryony Thompson Gene: npc1 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.175 NPC1 Bryony Thompson Classified gene: NPC1 as Green List (high evidence)
Ataxia - adult onset v0.175 NPC1 Bryony Thompson Gene: npc1 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.174 NPC1 Bryony Thompson gene: NPC1 was added
gene: NPC1 was added to Ataxia - adult onset. Sources: Literature
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPC1 were set to 10480349; 17003072; 25497598; 33228797
Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type C1 MONDO:0009757; ataxia
Review for gene: NPC1 was set to GREEN
gene: NPC1 was marked as current diagnostic
Added comment: Ataxia can be a prominent and presenting feature of Niemann-Pick disease. Both paediatric and adult-onset ataxia has been reported with high prevalence.
Sources: Literature
Ataxia - adult onset v0.173 ITM2B Bryony Thompson Marked gene: ITM2B as ready
Ataxia - adult onset v0.173 ITM2B Bryony Thompson Gene: itm2b has been classified as Green List (High Evidence).
Ataxia - adult onset v0.173 ITM2B Bryony Thompson Publications for gene: ITM2B were set to
Ataxia - adult onset v0.172 ITM2B Bryony Thompson reviewed gene: ITM2B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 10391242, 10781099, 33814452; Phenotypes: Cerebral amyloid angiopathy MONDO:0005620, ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - adult onset v0.172 SEPSECS Bryony Thompson Marked gene: SEPSECS as ready
Ataxia - adult onset v0.172 SEPSECS Bryony Thompson Gene: sepsecs has been classified as Red List (Low Evidence).
Ataxia - adult onset v0.171 Zornitza Stark List of related panels changed from to Ataxia; HP:0001251
Ataxia - adult onset v0.170 Zornitza Stark HPO terms changed from to Ataxia, HP:0001251
Ataxia - adult onset v0.169 RFC1 Ain Roesley Publications for gene: RFC1 were set to 30926972; 35883251
Ataxia - adult onset v0.168 RFC1 Ain Roesley Marked gene: RFC1 as ready
Ataxia - adult onset v0.168 RFC1 Ain Roesley Gene: rfc1 has been classified as Amber List (Moderate Evidence).
Ataxia - adult onset v0.168 RFC1 Ain Roesley Phenotypes for gene: RFC1 were changed from Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, 614575; CANVAS to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575
Ataxia - adult onset v0.168 RFC1 Ain Roesley Publications for gene: RFC1 were set to 30926972
Ataxia - adult onset v0.167 RFC1 Ain Roesley Classified gene: RFC1 as Amber List (moderate evidence)
Ataxia - adult onset v0.167 RFC1 Ain Roesley Gene: rfc1 has been classified as Amber List (Moderate Evidence).
Ataxia - adult onset v0.166 RFC1 Ain Roesley reviewed gene: RFC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 35883251; Phenotypes: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Ataxia - adult onset v0.166 Zornitza Stark removed gene:CWH43 from the panel
Ataxia - adult onset v0.165 CWH43 Anna Le Fevre gene: CWH43 was added
gene: CWH43 was added to Ataxia - adult onset. Sources: Literature
Mode of inheritance for gene: CWH43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CWH43 were set to PMID: 33459505; 34380733
Phenotypes for gene: CWH43 were set to normal pressure hydrocephalus
Penetrance for gene: CWH43 were set to Incomplete
Review for gene: CWH43 was set to AMBER
Added comment: Sources: Literature
Ataxia - adult onset v0.165 PNPT1 Zornitza Stark Marked gene: PNPT1 as ready
Ataxia - adult onset v0.165 PNPT1 Zornitza Stark Gene: pnpt1 has been classified as Amber List (Moderate Evidence).
Ataxia - adult onset v0.165 PNPT1 Zornitza Stark Classified gene: PNPT1 as Amber List (moderate evidence)
Ataxia - adult onset v0.165 PNPT1 Zornitza Stark Gene: pnpt1 has been classified as Amber List (Moderate Evidence).
Ataxia - adult onset v0.164 PNPT1 Zornitza Stark gene: PNPT1 was added
gene: PNPT1 was added to Ataxia - adult onset. Sources: Literature
Mode of inheritance for gene: PNPT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PNPT1 were set to 35411967
Phenotypes for gene: PNPT1 were set to Spinocerebellar ataxia 25, MIM# 608703
Review for gene: PNPT1 was set to AMBER
Added comment: Three families reported with heterozygous variants and SCA25. Incomplete penetrance in one of the families. In the third family, the variant was inherited from an asymptomatic 80+ year old.

Note bi-allelic variants in this gene cause a mitochondrial disorder. Exact mechanism through which mono-allelic variants cause SCA25 not elucidated: authors speculate abnormal accumulation of mitochondrial RNA with subsequent leakage into the cytosol that may trigger a type 1 interferon response leading to neuroinflammation with neuronal dysfunction or neuronal loss.
Sources: Literature
Ataxia - adult onset v0.163 PRKCG Zornitza Stark Marked gene: PRKCG as ready
Ataxia - adult onset v0.163 PRKCG Zornitza Stark Gene: prkcg has been classified as Green List (High Evidence).
Ataxia - adult onset v0.163 PRKCG Zornitza Stark Phenotypes for gene: PRKCG were changed from Spinocerebellar ataxia 14; Spincocerebellar ataxia 14, 605361 to Spinocerebellar ataxia 14 MIM#605361
Ataxia - adult onset v0.162 PRKCG Zornitza Stark Publications for gene: PRKCG were set to
Ataxia - adult onset v0.161 PRKCG Zornitza Stark Mode of pathogenicity for gene: PRKCG was changed from to Other
Ataxia - adult onset v0.160 PRKCG Zornitza Stark Mode of inheritance for gene: PRKCG was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - adult onset v0.159 PRKCG Michelle Torres reviewed gene: PRKCG: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25217572, 18577575, 31158466; Phenotypes: Spinocerebellar ataxia 14 MIM#605361; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - adult onset v0.159 SAMD9L Zornitza Stark Marked gene: SAMD9L as ready
Ataxia - adult onset v0.159 SAMD9L Zornitza Stark Gene: samd9l has been classified as Green List (High Evidence).
Ataxia - adult onset v0.159 SAMD9L Zornitza Stark Phenotypes for gene: SAMD9L were changed from Ataxia-pancytopenia syndrome, 159550 to Spinocerebellar ataxia 49, MIM# 619806; Ataxia-pancytopaenia syndrome, MIM# 159550
Ataxia - adult onset v0.158 SAMD9L Zornitza Stark Publications for gene: SAMD9L were set to
Ataxia - adult onset v0.157 SAMD9L Zornitza Stark reviewed gene: SAMD9L: Rating: GREEN; Mode of pathogenicity: None; Publications: 35310830, 33884299, 28570036; Phenotypes: Spinocerebellar ataxia 49, MIM# 619806, Ataxia-pancytopaenia syndrome, MIM# 159550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - adult onset v0.157 TDP1 Zornitza Stark Marked gene: TDP1 as ready
Ataxia - adult onset v0.157 TDP1 Zornitza Stark Gene: tdp1 has been classified as Amber List (Moderate Evidence).
Ataxia - adult onset v0.157 TDP1 Zornitza Stark Phenotypes for gene: TDP1 were changed from Autosomal recessive spinocerebellar ataxia with axonal neuropathy, 607250; Spinocerebellar ataxia, autosomal recessive with axonal neuropathy to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250
Ataxia - adult onset v0.156 TDP1 Zornitza Stark Publications for gene: TDP1 were set to 31182267
Ataxia - adult onset v0.155 TDP1 Zornitza Stark Classified gene: TDP1 as Amber List (moderate evidence)
Ataxia - adult onset v0.155 TDP1 Zornitza Stark Gene: tdp1 has been classified as Amber List (Moderate Evidence).
Ataxia - adult onset v0.154 TDP1 Zornitza Stark Tag founder tag was added to gene: TDP1.
Ataxia - adult onset v0.154 TDP1 Zornitza Stark reviewed gene: TDP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31182267, 12244316; Phenotypes: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - adult onset v0.154 KCND3 Zornitza Stark Marked gene: KCND3 as ready
Ataxia - adult onset v0.154 KCND3 Zornitza Stark Gene: kcnd3 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.154 KCND3 Zornitza Stark Phenotypes for gene: KCND3 were changed from Spinocerebellar ataxia 19, 607346; Spinocerebellarataxia19, 607346 to Spinocerebellar ataxia 19, MIM# 607346
Ataxia - adult onset v0.153 KCND3 Zornitza Stark Publications for gene: KCND3 were set to
Ataxia - adult onset v0.152 KCND3 Zornitza Stark reviewed gene: KCND3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23280837, 23280838, 34361012, 34067185, 33575485, 32823520; Phenotypes: Spinocerebellar ataxia 19, MIM# 607346; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - adult onset v0.152 ATP13A2 Bryony Thompson Marked gene: ATP13A2 as ready
Ataxia - adult onset v0.152 ATP13A2 Bryony Thompson Gene: atp13a2 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.152 ATP13A2 Bryony Thompson Classified gene: ATP13A2 as Green List (high evidence)
Ataxia - adult onset v0.152 ATP13A2 Bryony Thompson Gene: atp13a2 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.151 ATP13A2 Bryony Thompson gene: ATP13A2 was added
gene: ATP13A2 was added to Ataxia - adult onset. Sources: Literature
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP13A2 were set to 21362476; 21696388; 31588715; 32559632; 33033738; 33091395; 34405108
Phenotypes for gene: ATP13A2 were set to Kufor-Rakeb syndrome MIM#606693
Review for gene: ATP13A2 was set to GREEN
Added comment: At least 3 families with ataxia as a feature of the condition. Mainly adult-onset ataxia. Also, a Tibetan terrier with a homozygous frameshift variant had cerebellar ataxia.
Sources: Literature
Ataxia - adult onset v0.150 CHP1 Zornitza Stark Marked gene: CHP1 as ready
Ataxia - adult onset v0.150 CHP1 Zornitza Stark Gene: chp1 has been classified as Amber List (Moderate Evidence).
Ataxia - adult onset v0.150 CHP1 Zornitza Stark Publications for gene: CHP1 were set to PMID: 29379881, 32787936
Ataxia - adult onset v0.149 CHP1 Zornitza Stark Classified gene: CHP1 as Amber List (moderate evidence)
Ataxia - adult onset v0.149 CHP1 Zornitza Stark Gene: chp1 has been classified as Amber List (Moderate Evidence).
Ataxia - adult onset v0.148 CHP1 Zornitza Stark reviewed gene: CHP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ataxia - adult onset v0.148 CHP1 Chirag Patel Classified gene: CHP1 as Green List (high evidence)
Ataxia - adult onset v0.148 CHP1 Chirag Patel Gene: chp1 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.147 CHP1 Chirag Patel gene: CHP1 was added
gene: CHP1 was added to Ataxia - adult onset. 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 - adult onset v0.146 RNF170 Zornitza Stark Marked gene: RNF170 as ready
Ataxia - adult onset v0.146 RNF170 Zornitza Stark Gene: rnf170 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.146 RNF170 Zornitza Stark Phenotypes for gene: RNF170 were changed from Ataxia, sensory, 1, autosomal dominant; Autosomal dominant sensory ataxia 1, 608984 to Ataxia, sensory, 1, autosomal dominant, MIM# 608984
Ataxia - adult onset v0.145 RNF170 Zornitza Stark Publications for gene: RNF170 were set to
Ataxia - adult onset v0.144 RNF170 Zornitza Stark Mode of inheritance for gene: RNF170 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - adult onset v0.143 RNF170 Zornitza Stark reviewed gene: RNF170: Rating: GREEN; Mode of pathogenicity: None; Publications: 32943585, 21115467; Phenotypes: Ataxia, sensory, 1, autosomal dominant, MIM# 608984; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - adult onset v0.143 PRPS1 Chern Lim edited their review of gene: PRPS1: Added comment: PMID: 25491489:
Heterozygous missense variant, loss of function - PRS enzyme deficiency showed.
Proband and her mother have various degrees of ataxia (examinations at 34yrs and 70yrs, respectively), peripheral neuropathy and hearing loss beyond the ophthalmological symptoms, whereas the phenotype of the affected older sister (36yo) is currently confined to the eye and milder.; Changed publications: 33898739, 28967191, 25491489
Ataxia - adult onset v0.143 PRPS1 Zornitza Stark Marked gene: PRPS1 as ready
Ataxia - adult onset v0.143 PRPS1 Zornitza Stark Gene: prps1 has been classified as Amber List (Moderate Evidence).
Ataxia - adult onset v0.143 PRPS1 Zornitza Stark Publications for gene: PRPS1 were set to PMID: 33898739
Ataxia - adult onset v0.142 PRPS1 Zornitza Stark Classified gene: PRPS1 as Amber List (moderate evidence)
Ataxia - adult onset v0.142 PRPS1 Zornitza Stark Gene: prps1 has been classified as Amber List (Moderate Evidence).
Ataxia - adult onset v0.141 PRPS1 Zornitza Stark reviewed gene: PRPS1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia, deafness, eye disease; 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 - adult onset v0.141 PRPS1 Chern Lim edited their review of gene: PRPS1: Changed publications: PMID: 33898739, 28967191
Ataxia - adult onset v0.141 PRPS1 Chern Lim commented on gene: PRPS1: PMID: 28967191
in one of the families, heterozygous variants in proband with hearing loss and ataxia developed in the proband in her forties, and ocular manifestations of retinal changes and disc pallor were first confirmed in the two affected daughters in their twenties.
Ataxia - adult onset v0.141 PRPS1 Chern Lim gene: PRPS1 was added
gene: PRPS1 was added to Ataxia - adult onset. Sources: Literature
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: PRPS1 were set to PMID: 33898739
Phenotypes for gene: PRPS1 were set to Adult-onset progressive ataxia, congenital strabismus, infantile-onset hearing loss, retinal dystrophy
Review for gene: PRPS1 was set to AMBER
gene: PRPS1 was marked as current diagnostic
Added comment: PMID: 33898739:
Heterozygous de novo missense variant in a 30yo female individual, presented with a 5-year history of progressive ataxia. She also had congenital strabismus, infantile-onset hearing loss, and a retinal dystrophy with progressive visual loss for the past 10 years.
Sources: Literature
Ataxia - adult onset v0.141 EEF2 Zornitza Stark Marked gene: EEF2 as ready
Ataxia - adult onset v0.141 EEF2 Zornitza Stark Gene: eef2 has been classified as Red List (Low Evidence).
Ataxia - adult onset v0.141 SCA36 Bryony Thompson Publications for STR: SCA36 were set to 25101480
Ataxia - adult onset v0.140 SCA36 Bryony Thompson edited their review of STR: SCA36: Changed publications: 21683323
Ataxia - adult onset v0.140 SCA12 Bryony Thompson Marked STR: SCA12 as ready
Ataxia - adult onset v0.140 SCA12 Bryony Thompson Str: sca12 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.140 SCA12 Bryony Thompson Classified STR: SCA12 as Green List (high evidence)
Ataxia - adult onset v0.140 SCA12 Bryony Thompson Str: sca12 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.139 SCA12 Bryony Thompson STR: SCA12 was added
STR: SCA12 was added to Ataxia - adult onset. Sources: Expert list
Mode of inheritance for STR: SCA12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA12 were set to 27864267; 33811808
Phenotypes for STR: SCA12 were set to Spinocerebellar ataxia 12 MIM#604326
Review for STR: SCA12 was set to GREEN
STR: SCA12 was marked as clinically relevant
Added comment: NM_181675.3:c.27CAG[X]
Uncertain if CAG repeat encodes polyglutamine or instead effects expression of specific splice variants of the encoded phosphatase
Normal: ≤32 repeats
Uncertain: ~40-50 repeats have been reported, 43 repeats is the lowest reported in an established affected individual in a family with SCA12
Established pathogenic (used as diagnostic cut-off): ≥51 repeats
Sources: Expert list
Ataxia - adult onset v0.138 Bryony Thompson removed STR:SCA12 from the panel
Ataxia - adult onset v0.137 PRDX3 Zornitza Stark Marked gene: PRDX3 as ready
Ataxia - adult onset v0.137 PRDX3 Zornitza Stark Gene: prdx3 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.137 PRDX3 Zornitza Stark Classified gene: PRDX3 as Green List (high evidence)
Ataxia - adult onset v0.137 PRDX3 Zornitza Stark Gene: prdx3 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.136 PRDX3 Zornitza Stark gene: PRDX3 was added
gene: PRDX3 was added to Ataxia - adult onset. 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 - adult onset v0.135 FAT2 Seb Lunke Marked gene: FAT2 as ready
Ataxia - adult onset v0.135 FAT2 Seb Lunke Gene: fat2 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.135 FAT2 Seb Lunke Phenotypes for gene: FAT2 were changed from Spinocerebellar ataxia 45 to Spinocerebellar ataxia 45, MIM#617769
Ataxia - adult onset v0.134 FAT2 Seb Lunke Classified gene: FAT2 as Green List (high evidence)
Ataxia - adult onset v0.134 FAT2 Seb Lunke Gene: fat2 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.133 FAT2 Seb Lunke Publications for gene: FAT2 were set to 29053796
Ataxia - adult onset v0.132 FAT2 Seb Lunke reviewed gene: FAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33884300; Phenotypes: Spinocerebellar ataxia 45, MIM#617769; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ataxia - adult onset v0.132 SDHA Zornitza Stark Marked gene: SDHA as ready
Ataxia - adult onset v0.132 SDHA Zornitza Stark Gene: sdha has been classified as Amber List (Moderate Evidence).
Ataxia - adult onset v0.132 SDHA Zornitza Stark Classified gene: SDHA as Amber List (moderate evidence)
Ataxia - adult onset v0.132 SDHA Zornitza Stark Gene: sdha has been classified as Amber List (Moderate Evidence).
Ataxia - adult onset v0.131 SDHA Zornitza Stark gene: SDHA was added
gene: SDHA was added to Ataxia - adult onset. Sources: Expert list
Mode of inheritance for gene: SDHA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SDHA were set to 10976639; 27683074
Phenotypes for gene: SDHA were set to Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259
Review for gene: SDHA was set to AMBER
Added comment: NDAXOA and mono-allelic variants: 5 individuals from two unrelated families reported in PMIDs: 10976639;27683074. Most affected individuals presented in mid-adulthood with slowly progressive cerebellar and gait ataxia, optic atrophy, and myopathy or myalgia. Some had a childhood history of neurologic features, including limited extraocular movements. Additional features reported included cardiomyopathy, psychiatric disturbances, and peripheral sensory impairment.
Sources: Expert list
Ataxia - adult onset v0.130 CAPN1 Zornitza Stark Phenotypes for gene: CAPN1 were changed from Spastic paraplegia 76, autosomal recessive, 616907 to Spastic paraplegia 76, autosomal recessive, 616907; MONDO:0014827
Ataxia - adult onset v0.129 CAPN1 Zornitza Stark edited their review of gene: CAPN1: Changed phenotypes: Spastic paraplegia 76, autosomal recessive, MIM#616907, MONDO:0014827
Ataxia - adult onset v0.129 CANVAS_ACAGG Bryony Thompson Marked STR: CANVAS_ACAGG as ready
Ataxia - adult onset v0.129 CANVAS_ACAGG Bryony Thompson Str: canvas_acagg has been classified as Amber List (Moderate Evidence).
Ataxia - adult onset v0.129 CANVAS_ACAGG Bryony Thompson Classified STR: CANVAS_ACAGG as Amber List (moderate evidence)
Ataxia - adult onset v0.129 CANVAS_ACAGG Bryony Thompson Added comment: Comment on list classification: Used the pathogenic cut-off of 400 repeats from original CANVAS repeat
Ataxia - adult onset v0.129 CANVAS_ACAGG Bryony Thompson Str: canvas_acagg has been classified as Amber List (Moderate Evidence).
Ataxia - adult onset v0.128 CANVAS_ACAGG Bryony Thompson STR: CANVAS_ACAGG was added
STR: CANVAS_ACAGG was added to Ataxia - adult onset. Sources: Literature
Mode of inheritance for STR: CANVAS_ACAGG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: CANVAS_ACAGG were set to 33103729
Phenotypes for STR: CANVAS_ACAGG were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome; fasciculations; elevated serum creatine kinase levels; denervation
Review for STR: CANVAS_ACAGG was set to AMBER
Added comment: A novel RFC1 repeat expansion motif, (ACAGG)exp, identified in three affected individuals from 2 families in an Asian-Pacific cohort for CANVAS. Southern blot was used to identify the repeat was ~1000kb in one of the cases, equivalent to ~1000 repeats.
Sources: Literature
Ataxia - adult onset v0.127 CANVAS Bryony Thompson changed review comment from: Simple tandem repeat (AAAAG)11 replaced with (AAGGG)n in intron 2 of RFC1. Loss of function is not the mechanism of disease.
Sources: Expert list; to: Simple tandem repeat (AAAAG)11 replaced with (AAGGG)n in intron 2 of RFC1. Loss of function is not the mechanism of disease. Maori population-specific CANVAS configuration (AAAGG)10-25(AAGGG)exp. (AAAGG)n repeat alone is not pathogenic.
Sources: Expert list
Ataxia - adult onset v0.127 CANVAS Bryony Thompson edited their review of STR: CANVAS: Changed publications: 30926972, 32851396
Ataxia - adult onset v0.127 RFC1 Bryony Thompson Classified gene: RFC1 as No list
Ataxia - adult onset v0.127 RFC1 Bryony Thompson Gene: rfc1 has been removed from the panel.
Ataxia - adult onset v0.126 PPP2R2B Bryony Thompson Classified gene: PPP2R2B as No list
Ataxia - adult onset v0.126 PPP2R2B Bryony Thompson Gene: ppp2r2b has been removed from the panel.
Ataxia - adult onset v0.125 NOP56 Bryony Thompson Classified gene: NOP56 as No list
Ataxia - adult onset v0.125 NOP56 Bryony Thompson Gene: nop56 has been removed from the panel.
Ataxia - adult onset v0.124 FMR1 Bryony Thompson Classified gene: FMR1 as No list
Ataxia - adult onset v0.124 FMR1 Bryony Thompson Gene: fmr1 has been removed from the panel.
Ataxia - adult onset v0.123 DAB1 Bryony Thompson Classified gene: DAB1 as No list
Ataxia - adult onset v0.123 DAB1 Bryony Thompson Gene: dab1 has been removed from the panel.
Ataxia - adult onset v0.122 BEAN1 Bryony Thompson Classified gene: BEAN1 as No list
Ataxia - adult onset v0.122 BEAN1 Bryony Thompson Gene: bean1 has been removed from the panel.
Ataxia - adult onset v0.121 ATXN8 Bryony Thompson Classified gene: ATXN8 as No list
Ataxia - adult onset v0.121 ATXN8 Bryony Thompson Gene: atxn8 has been removed from the panel.
Ataxia - adult onset v0.120 ATXN7 Bryony Thompson Classified gene: ATXN7 as No list
Ataxia - adult onset v0.120 ATXN7 Bryony Thompson Gene: atxn7 has been removed from the panel.
Ataxia - adult onset v0.119 ATXN3 Bryony Thompson Classified gene: ATXN3 as No list
Ataxia - adult onset v0.119 ATXN3 Bryony Thompson Gene: atxn3 has been removed from the panel.
Ataxia - adult onset v0.118 ATXN10 Bryony Thompson Classified gene: ATXN10 as No list
Ataxia - adult onset v0.118 ATXN10 Bryony Thompson Gene: atxn10 has been removed from the panel.
Ataxia - adult onset v0.117 ATXN2 Bryony Thompson Classified gene: ATXN2 as No list
Ataxia - adult onset v0.117 ATXN2 Bryony Thompson Gene: atxn2 has been removed from the panel.
Ataxia - adult onset v0.116 ATXN1 Bryony Thompson Classified gene: ATXN1 as No list
Ataxia - adult onset v0.116 ATXN1 Bryony Thompson Gene: atxn1 has been removed from the panel.
Ataxia - adult onset v0.115 ATN1 Bryony Thompson Classified gene: ATN1 as No list
Ataxia - adult onset v0.115 ATN1 Bryony Thompson Gene: atn1 has been removed from the panel.
Ataxia - adult onset v0.114 TBP Bryony Thompson Classified gene: TBP as No list
Ataxia - adult onset v0.114 TBP Bryony Thompson Gene: tbp has been removed from the panel.
Ataxia - adult onset v0.113 VAMP1 Zornitza Stark Marked gene: VAMP1 as ready
Ataxia - adult onset v0.113 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Amber List (Moderate Evidence).
Ataxia - adult onset v0.113 VAMP1 Zornitza Stark Tag founder tag was added to gene: VAMP1.
Ataxia - adult onset v0.113 VAMP1 Zornitza Stark Publications for gene: VAMP1 were set to
Ataxia - adult onset v0.112 VAMP1 Zornitza Stark Classified gene: VAMP1 as Amber List (moderate evidence)
Ataxia - adult onset v0.112 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Amber List (Moderate Evidence).
Ataxia - adult onset v0.111 VAMP1 Zornitza Stark reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 22958904; Phenotypes: Spastic ataxia 1, autosomal dominant, MIM# 108600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - adult onset v0.111 ERCC4 Zornitza Stark Marked gene: ERCC4 as ready
Ataxia - adult onset v0.111 ERCC4 Zornitza Stark Gene: ercc4 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.111 ERCC4 Zornitza Stark Classified gene: ERCC4 as Green List (high evidence)
Ataxia - adult onset v0.111 ERCC4 Zornitza Stark Gene: ercc4 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.110 ERCC4 Zornitza Stark gene: ERCC4 was added
gene: ERCC4 was added to Ataxia - adult onset. Sources: Expert list
Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC4 were set to 29403087; 28431612; 29892709
Phenotypes for gene: ERCC4 were set to Cerebellar ataxia; Xeroderma pigmentosum, group F, MIM# 278760
Review for gene: ERCC4 was set to GREEN
Added comment: Bi-allelic variants in ERCC4 cause a range of phenotypes, including xeroderma pigmentosum complementation group F (XP-F), Cockayne syndrome, and Fanconi anaemia.

Seven unrelated individuals reported with slowly progressive cerebellar ataxia and cognitive decline with choreiform involuntary movement, with onset in adolescence/adulthood. Brain MRIs demonstrated atrophy that included the cerebellum and brainstem. Of note, cutaneous symptoms were very mild in 5/7: there was normal to very mild pigmentation of exposed skin areas and/or an equivocal history of pathological sunburn.
Sources: Expert list
Ataxia - adult onset v0.109 TGM6 Zornitza Stark Tag refuted tag was added to gene: TGM6.
Ataxia - adult onset v0.109 PEX7 Zornitza Stark Marked gene: PEX7 as ready
Ataxia - adult onset v0.109 PEX7 Zornitza Stark Gene: pex7 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.109 PEX7 Zornitza Stark Classified gene: PEX7 as Green List (high evidence)
Ataxia - adult onset v0.109 PEX7 Zornitza Stark Gene: pex7 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.108 PEX7 Zornitza Stark gene: PEX7 was added
gene: PEX7 was added to Ataxia - adult onset. Sources: Expert list
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX7 were set to 25851898
Phenotypes for gene: PEX7 were set to Peroxisome biogenesis disorder 9B, MIM# 614879
Review for gene: PEX7 was set to GREEN
Added comment: Three individuals reported where ataxia was part of the phenotype, onset in young adulthood.
Sources: Expert list
Ataxia - adult onset v0.107 ELOVL5 Zornitza Stark Phenotypes for gene: ELOVL5 were changed from Spinocerebellar ataxia 38, 615957; Spinocerebellar ataxia 36 615957 to Spinocerebellar ataxia 38, MIM#615957
Ataxia - adult onset v0.106 ELOVL5 Zornitza Stark Marked gene: ELOVL5 as ready
Ataxia - adult onset v0.106 ELOVL5 Zornitza Stark Gene: elovl5 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.106 ELOVL5 Zornitza Stark Publications for gene: ELOVL5 were set to
Ataxia - adult onset v0.105 ELOVL5 Zornitza Stark reviewed gene: ELOVL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 25065913; Phenotypes: Spinocerebellar ataxia 38, MIM# 615957; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - adult onset v0.105 VPS13D Zornitza Stark Phenotypes for gene: VPS13D were changed from Spinocerebellar ataxia, autosomal recessive 4, 607317; Autosomal recessive spinocerebellar ataxia 4, 608877 to Spinocerebellar ataxia, autosomal recessive 4, 607317
Ataxia - adult onset v0.104 KIF1C Zornitza Stark Marked gene: KIF1C as ready
Ataxia - adult onset v0.104 KIF1C Zornitza Stark Gene: kif1c has been classified as Green List (High Evidence).
Ataxia - adult onset v0.104 KIF1C Zornitza Stark Publications for gene: KIF1C were set to
Ataxia - adult onset v0.103 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 - adult onset v0.103 LMNB1 Bryony Thompson changed review comment from: Four unrelated families reported with adult onset cerebellar ataxia as a feature of the condition.
Sources: Expert list; to: Four unrelated families reported with adult onset cerebellar ataxia as a feature of the condition. CNV is the only reported cause of the condition.
Sources: Expert list
Ataxia - adult onset v0.103 LMNB1 Bryony Thompson Tag SV/CNV tag was added to gene: LMNB1.
Ataxia - adult onset v0.103 SCA31 Bryony Thompson Classified STR: SCA31 as Green List (high evidence)
Ataxia - adult onset v0.103 SCA31 Bryony Thompson Str: sca31 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.102 SCA31 Bryony Thompson STR: SCA31 was added
STR: SCA31 was added to Ataxia - adult onset. Sources: Literature
STR tags were added to STR: SCA31.
Mode of inheritance for STR: SCA31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA31 were set to 19878914; 31755042
Phenotypes for STR: SCA31 were set to Spinocerebellar ataxia 31 MIM#117210
Review for STR: SCA31 was set to GREEN
Added comment: Complex repeat insertion (TGGAA)n, (TAGAA)n, (TAAAA)n, (TAAAATAGAA)n, TGGAA is present only in affected cases. Sequencing showed that the insertion consisted of a preceding TCAC sequence, and 3 pentanucleotide repeat components (TGGAA)n, (TAGAA)n, and (TAAAA)n in all patients tested.
2.5-3.8 KB insertion is associated with disease and RNA toxicity expected to be mechanism of disease
Normal and pathogenic cut-offs are based on animal model experiments (PMID: 31755042)
Sources: Literature
Ataxia - adult onset v0.101 SCA37 Bryony Thompson Classified STR: SCA37 as Green List (high evidence)
Ataxia - adult onset v0.101 SCA37 Bryony Thompson Str: sca37 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.100 SCA37 Bryony Thompson STR: SCA37 was added
STR: SCA37 was added to Ataxia - adult onset. Sources: Literature
STR tags were added to STR: SCA37.
Mode of inheritance for STR: SCA37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA37 were set to 28686858; 31145571
Phenotypes for STR: SCA37 were set to Spinocerebellar ataxia 37 MIM#615945
Review for STR: SCA37 was set to GREEN
STR: SCA37 was marked as clinically relevant
Added comment: NC_000001.10:g.57832716_57832797ins[(ATTTT)60-79(ATTTC)31-75(ATTTT)58-90]
Located in a 5'UTR intron, flanked by (ATTTT)n on both sides
Non-pathogenic allele: (ATTTT)7–400
Pathogenic allele: [(ATTTT)60–79(ATTTC)31–75(ATTTT)58–90]
Sources: Literature
Ataxia - adult onset v0.99 CANVAS Bryony Thompson Classified STR: CANVAS as Green List (high evidence)
Ataxia - adult onset v0.99 CANVAS Bryony Thompson Str: canvas has been classified as Green List (High Evidence).
Ataxia - adult onset v0.98 CANVAS Bryony Thompson STR: CANVAS was added
STR: CANVAS was added to Ataxia - adult onset. Sources: Expert list
STR tags were added to STR: CANVAS.
Mode of inheritance for STR: CANVAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: CANVAS were set to 30926972
Phenotypes for STR: CANVAS were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575
Review for STR: CANVAS was set to GREEN
STR: CANVAS was marked as clinically relevant
Added comment: Simple tandem repeat (AAAAG)11 replaced with (AAGGG)n in intron 2 of RFC1. Loss of function is not the mechanism of disease.
Sources: Expert list
Ataxia - adult onset v0.97 EPM1 Bryony Thompson Classified STR: EPM1 as Green List (high evidence)
Ataxia - adult onset v0.97 EPM1 Bryony Thompson Str: epm1 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.96 EPM1 Bryony Thompson STR: EPM1 was added
STR: EPM1 was added to Ataxia - adult onset. Sources: Literature
STR tags were added to STR: EPM1.
Mode of inheritance for STR: EPM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: EPM1 were set to 29325606; 20301321
Phenotypes for STR: EPM1 were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM#254800
Review for STR: EPM1 was set to GREEN
STR: EPM1 was marked as clinically relevant
Added comment: NM_000100​.4:c.-179CCCCGCCCCGCG[X]
Loss of function, other disease-associated variants can cause loss of function too. Ataxia age of onset usually occurs a couple of years after PME.
Normal: 2-3 dodecamer repeats
Uncertain significance: 12-17 dodecamer repeats (unstable, but not clinically characterized)
Pathogenic (full penetrance): ≥30 dodecamer repeats
Sources: Literature
Ataxia - adult onset v0.95 FMR1 Bryony Thompson Classified gene: FMR1 as Green List (high evidence)
Ataxia - adult onset v0.95 FMR1 Bryony Thompson Added comment: Comment on list classification: CCG repeat expansion is the only reported cause of ataxia (FXTAS). The SNVs are associated with intellectual disability in FXS.
Ataxia - adult onset v0.95 FMR1 Bryony Thompson Gene: fmr1 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.94 FMR1 Bryony Thompson Deleted their review
Ataxia - adult onset v0.94 FRDA Bryony Thompson Classified STR: FRDA as Green List (high evidence)
Ataxia - adult onset v0.94 FRDA Bryony Thompson Str: frda has been classified as Green List (High Evidence).
Ataxia - adult onset v0.93 FRDA Bryony Thompson STR: FRDA was added
STR: FRDA was added to Ataxia - adult onset. Sources: Expert list
STR tags were added to STR: FRDA.
Mode of inheritance for STR: FRDA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: FRDA were set to 20301458
Phenotypes for STR: FRDA were set to Friedreich ataxia MIM#229300
Review for STR: FRDA was set to GREEN
STR: FRDA was marked as clinically relevant
Added comment: NM_000144.4:c.165+1340GAA[X]
Loss of function is the mechanism of disease
Normal: 5-33 repeats
Mutable normal (premutation): 34-65 repeats
Borderline: 44-66 repeats
Full-penetrance: ≥66 repeats
Sources: Expert list
Ataxia - adult onset v0.92 SCA36 Bryony Thompson Classified STR: SCA36 as Green List (high evidence)
Ataxia - adult onset v0.92 SCA36 Bryony Thompson Str: sca36 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.91 SCA36 Bryony Thompson STR: SCA36 was added
STR: SCA36 was added to Ataxia - adult onset. Sources: Expert list
STR tags were added to STR: SCA36.
Mode of inheritance for STR: SCA36 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA36 were set to 25101480
Phenotypes for STR: SCA36 were set to Spinocerebellar ataxia 36 MIM#614153
Review for STR: SCA36 was set to GREEN
STR: SCA36 was marked as clinically relevant
Added comment: NM_006392​.3:c.3+71GGCCTG[X]
Toxic RNA effect is suggested mechanism of disease
Normal: 3-14 repeats
Uncertain significance: 15-650 repeats
Pathogenic: ≥650 repeats
Sources: Expert list
Ataxia - adult onset v0.90 NOP56 Bryony Thompson Classified gene: NOP56 as Green List (high evidence)
Ataxia - adult onset v0.90 NOP56 Bryony Thompson Added comment: Comment on list classification: A hexanucleotide (GGCCTG) repeat expansion in the first intron of the NOP56 gene is the only reported cause of disease.
Ataxia - adult onset v0.90 NOP56 Bryony Thompson Gene: nop56 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.89 NOP56 Bryony Thompson Publications for gene: NOP56 were set to
Ataxia - adult onset v0.88 NOP56 Bryony Thompson Tag STR tag was added to gene: NOP56.
Ataxia - adult onset v0.88 NOP56 Bryony Thompson Phenotypes for gene: NOP56 were changed from Spinocerebellarataxia36,614153 to Spinocerebellar ataxia 36, 614153
Ataxia - adult onset v0.87 SCA12 Bryony Thompson Classified STR: SCA12 as Green List (high evidence)
Ataxia - adult onset v0.87 SCA12 Bryony Thompson Str: sca12 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.86 SCA12 Bryony Thompson STR: SCA12 was added
STR: SCA12 was added to Ataxia - adult onset. Sources: Expert list
STR tags were added to STR: SCA12.
Mode of inheritance for STR: SCA12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA12 were set to 29325606; 20301381
Phenotypes for STR: SCA12 were set to Spinocerebellar ataxia 12 MIM#604326
Review for STR: SCA12 was set to GREEN
STR: SCA12 was marked as clinically relevant
Added comment: NM_181675.3:c.27CAG[X]
Uncertain if CAG repeat encodes polyglutamine or instead effects expression of specific splice variants of the encoded phosphatase
Normal: ≤32 repeats
Reduced penetrance: ~40-66 repeats
Full penetrance: ≥66 repeats
Sources: Expert list
Ataxia - adult onset v0.85 SCA10 Bryony Thompson Classified STR: SCA10 as Green List (high evidence)
Ataxia - adult onset v0.85 SCA10 Bryony Thompson Str: sca10 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.84 SCA10 Bryony Thompson STR: SCA10 was added
STR: SCA10 was added to Ataxia - adult onset. Sources: Expert list
STR tags were added to STR: SCA10.
Mode of inheritance for STR: SCA10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA10 were set to 20301354
Phenotypes for STR: SCA10 were set to Spinocerebellar ataxia 10 MIM#603516
STR: SCA10 was marked as clinically relevant
Added comment: NM_013236​.2:c.1430+54822ATTCT[X]
Toxic RNA gain-of-function mechanism of disease
Normal alleles: 10-32 ATTCT repeats
Alleles of questionable significance: 33-280 ATTCT repeats
Reduced-penetrance alleles: 33-850 repeats
Full-penetrance alleles: 800-4,500 ATTCT repeats
Sources: Expert list
Ataxia - adult onset v0.83 SCA8 Bryony Thompson Classified STR: SCA8 as Green List (high evidence)
Ataxia - adult onset v0.83 SCA8 Bryony Thompson Str: sca8 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.82 SCA8 Bryony Thompson STR: SCA8 was added
STR: SCA8 was added to Ataxia - adult onset. Sources: Expert list
STR tags were added to STR: SCA8.
Mode of inheritance for STR: SCA8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA8 were set to 20301445
Phenotypes for STR: SCA8 were set to Spinocerebellar ataxia 8 MIM#608768
Review for STR: SCA8 was set to GREEN
STR: SCA8 was marked as clinically relevant
Added comment: NR_002717.2:n.1073CTA[X]1103CTG[X]
ATXN8 (CAG)n(TAG)n vs ATXN8OS on opposite strand (CTA)n(CTG)n
Both toxic RNA and toxic protein gain of function mechanisms likely contribute to disease mechanism
Normal alleles: 15-50 combined (CTA·TAG)n(CTG·CAG)n repeats
Alleles of questionable significance: 50-70 repeats.
Reduced penetrance allele size: found for (CTA·TAG)n(CTG·CAG)n repeats of all sizes
Higher penetrance allele size: ≥80 (CTA·TAG)n(CTG·CAG)n repeats most often seen in individuals with ataxia; however, repeat sizes ranging from 71 to more than 1300 repeats have been found both in individuals who develop ataxia and in those who do not.
Sources: Expert list
Ataxia - adult onset v0.81 SCA17 Bryony Thompson Classified STR: SCA17 as Green List (high evidence)
Ataxia - adult onset v0.81 SCA17 Bryony Thompson Str: sca17 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.80 SCA17 Bryony Thompson STR: SCA17 was added
STR: SCA17 was added to Ataxia - adult onset. Sources: Expert list
STR tags were added to STR: SCA17.
Mode of inheritance for STR: SCA17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA17 were set to 20301611; 29325606
Phenotypes for STR: SCA17 were set to Spinocerebellar ataxia 17 MIM#607136
Review for STR: SCA17 was set to GREEN
STR: SCA17 was marked as clinically relevant
Added comment: NM_003194.4:c.172_174[X]
Mechanism of disease expected to be gain of function
Normal: ≤ 40 CAG/CAA repeats
Reduced-penetrance: 41-48 CAG/CAA repeats, individual may or may not develop symptoms.
Full-penetrance: ≥49 CAG/CAA repeats
Sources: Expert list
Ataxia - adult onset v0.79 SCA7 Bryony Thompson Classified STR: SCA7 as Green List (high evidence)
Ataxia - adult onset v0.79 SCA7 Bryony Thompson Str: sca7 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.78 SCA7 Bryony Thompson STR: SCA7 was added
STR: SCA7 was added to Ataxia - adult onset. Sources: Expert list
STR tags were added to STR: SCA7.
Mode of inheritance for STR: SCA7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA7 were set to 29325606; 20301433
Phenotypes for STR: SCA7 were set to Spinocerebellar ataxia 7 MIM#164500
Review for STR: SCA7 was set to GREEN
STR: SCA7 was marked as clinically relevant
Added comment: NM_000333​.3:c.89_91AGC[X]
Gain of function mechanism of disease
Normal: ≤27 repeats
Mutable normal: 28-33 repeats, meiotically unstable, but not associated with an abnormal phenotype.
Pathogenic reduced penetrance: 34-36 repeats, when manifestations occur, they are more likely to be later onset and milder than average
Pathogenic full penetrance: 37-460 repeats
Sources: Expert list
Ataxia - adult onset v0.77 SCA6 Bryony Thompson Classified STR: SCA6 as Green List (high evidence)
Ataxia - adult onset v0.77 SCA6 Bryony Thompson Str: sca6 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.76 SCA6 Bryony Thompson STR: SCA6 was added
STR: SCA6 was added to Ataxia - adult onset. Sources: Expert list
STR tags were added to STR: SCA6.
Mode of inheritance for STR: SCA6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA6 were set to 20301319; 29325606
Phenotypes for STR: SCA6 were set to Spinocerebellar ataxia 6 MIM#183086; Episodic ataxia, type 2 MIM#108500
Review for STR: SCA6 was set to GREEN
STR: SCA6 was marked as clinically relevant
Added comment: NM_023035.2:c.6929_6931CAG[X]
PolyQ expansion alters gene binding, impairs transcription factor function, and is toxic to cells expressing the α1ACT – effects consistent with a loss of function
Normal: ≤18 repeats
Questionable significance: 19 CAG repeats
Full penetrance: ≥20 repeats
Sources: Expert list
Ataxia - adult onset v0.75 SCA3 Bryony Thompson Classified STR: SCA3 as Green List (high evidence)
Ataxia - adult onset v0.75 SCA3 Bryony Thompson Str: sca3 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.74 SCA3 Bryony Thompson STR: SCA3 was added
STR: SCA3 was added to Ataxia - adult onset. Sources: Expert list
STR tags were added to STR: SCA3.
Mode of inheritance for STR: SCA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA3 were set to 20301375; 29325606
Phenotypes for STR: SCA3 were set to Machado-Joseph disease MIM#109150; Spinocerebellar ataxia type 3
Review for STR: SCA3 was set to GREEN
STR: SCA3 was marked as clinically relevant
Added comment: NM_004993​.5:c.886_888CAG[X]
Toxic aggregation and mislocalization in neurons is mechanism of disease
Normal: ≤44 repeats, mostly <31 repeats
Intermediate: 45-59 repeats, some intermediate alleles are not associated with classic clinical features of SCA3
Pathogenic (full penetrance): ≥60 repeats
Sources: Expert list
Ataxia - adult onset v0.73 SCA2 Bryony Thompson Classified STR: SCA2 as Green List (high evidence)
Ataxia - adult onset v0.73 SCA2 Bryony Thompson Str: sca2 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.72 SCA2 Bryony Thompson STR: SCA2 was added
STR: SCA2 was added to Ataxia - adult onset. Sources: Expert list
STR tags were added to STR: SCA2.
Mode of inheritance for STR: SCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA2 were set to 29325606; 20301452
Phenotypes for STR: SCA2 were set to Spinocerebellar ataxia 2 MIM#183090
Review for STR: SCA2 was set to GREEN
STR: SCA2 was marked as clinically relevant
Added comment: NM_002973​.3:c.496_498CAG[X]
Toxic protein aggregation is mechanism of disease
Benign: ≤31 repeats (homozygous 31/31 repeats reported for recessive SCA2)
Uncertain: 32 repeats
ALS risk allele: 30-32 repeats
Reduced penetrance: 33-34 repeats, may not develop symptoms or only very late in life
Full penetrance: ≥35 repeats
Interruption of a CAG expanded allele by a CAA repeat does not mitigate the pathogenicity of the repeat size, but may enhance the meiotic stability of the repeat
Sources: Expert list
Ataxia - adult onset v0.71 SCA1 Bryony Thompson Classified STR: SCA1 as Green List (high evidence)
Ataxia - adult onset v0.71 SCA1 Bryony Thompson Str: sca1 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.70 SCA1 Bryony Thompson changed review comment from: NM_000332.3:c.589_591CAG[X]
Toxic protein aggregation is mechanism of disease
Sources: Expert list; to: NM_000332.3:c.589_591CAG[X]
Toxic protein aggregation is mechanism of disease
Normal: ≤35 CAG repeats or 36-44 CAG repeats with CAT interruptions
Mutable normal (intermediate): 36-38 CAG repeats without CAT interruptions
Full-penetrance: ≥39 CAG repeats without CAT interruptions or ≥46 uninterrupted CAG repeats with CAT interruptions and additional CAGs
Sources: Expert list
Ataxia - adult onset v0.70 SCA1 Bryony Thompson STR: SCA1 was added
STR: SCA1 was added to Ataxia - adult onset. Sources: Expert list
STR tags were added to STR: SCA1.
Mode of inheritance for STR: SCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA1 were set to 29325606; 20301363
Phenotypes for STR: SCA1 were set to Spinocerebellar ataxia 1 MIM#164400
Review for STR: SCA1 was set to GREEN
STR: SCA1 was marked as clinically relevant
Added comment: NM_000332.3:c.589_591CAG[X]
Toxic protein aggregation is mechanism of disease
Sources: Expert list
Ataxia - adult onset v0.69 DRPLA Bryony Thompson Classified STR: DRPLA as Green List (high evidence)
Ataxia - adult onset v0.69 DRPLA Bryony Thompson Str: drpla has been classified as Green List (High Evidence).
Ataxia - adult onset v0.68 DRPLA Bryony Thompson STR: DRPLA was added
STR: DRPLA was added to Ataxia - adult onset. Sources: Expert list
STR tags were added to STR: DRPLA.
Mode of inheritance for STR: DRPLA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: DRPLA were set to 29325606; 20301664
Phenotypes for STR: DRPLA were set to Dentatorubral-pallidoluysian atrophy MIM#125370
Review for STR: DRPLA was set to GREEN
STR: DRPLA was marked as clinically relevant
Added comment: NM_001007026​.1:c.1462_1464CAG[X]
Toxic gain of function mechanism of disease
Benign: ≤35 repeats
Mutable normal: 20-35 repeats
Pathogenic: ≥48 repeats
Age <20 years: ≥63 repeats - ataxia, myoclonus, seizures, progressive intellectual deterioration
Age 21-40 years 61-69 repeats, >40 years 48-67 repeats: ataxia, choreoathetosis, dementia, psychiatric disturbance
Sources: Expert list
Ataxia - adult onset v0.67 FXTAS Bryony Thompson changed review comment from: HGVS nomenclature - NM_002024.5:c.-129CGG[X]
RNA-mediated toxicity may result in the FXTAS phenotype, whereas loss of function through methylation silencing of FMR1 is associated with the FXS phenotype.
Intermediate (gray zone, inconclusive, borderline): ~45 to ~54 repeats
Premutation - risk of FXTAS: ~55 to ~200 repeats
Full mutation - fragile X syndrome (FXS): >200 repeats
Sources: Expert list; to: HGVS nomenclature - NM_002024.5:c.-129_-127CGG[X]
RNA-mediated toxicity may result in the FXTAS phenotype, whereas loss of function through methylation silencing of FMR1 is associated with the FXS phenotype.
Intermediate (gray zone, inconclusive, borderline): ~45 to ~54 repeats
Premutation - risk of FXTAS: ~55 to ~200 repeats
Full mutation - fragile X syndrome (FXS): >200 repeats
Sources: Expert list
Ataxia - adult onset v0.67 FXTAS Bryony Thompson Tag STR tag was added to STR: FXTAS.
Ataxia - adult onset v0.67 FXTAS Bryony Thompson edited their review of STR: FXTAS: Changed publications: 23765048, 25227148, 11445641
Ataxia - adult onset v0.67 FMR1 Bryony Thompson Deleted their comment
Ataxia - adult onset v0.67 FMR1 Bryony Thompson Classified gene: FMR1 as Green List (high evidence)
Ataxia - adult onset v0.67 FMR1 Bryony Thompson Added comment: Comment on list classification: Ataxia is caused by the premutation repeat expansion.
Ataxia - adult onset v0.67 FMR1 Bryony Thompson Gene: fmr1 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.66 FXTAS Bryony Thompson Classified STR: FXTAS as Green List (high evidence)
Ataxia - adult onset v0.66 FXTAS Bryony Thompson Str: fxtas has been classified as Green List (High Evidence).
Ataxia - adult onset v0.65 FXTAS Bryony Thompson STR: FXTAS was added
STR: FXTAS was added to Ataxia - adult onset. Sources: Expert list
Mode of inheritance for STR: FXTAS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for STR: FXTAS were set to 23765048; 25227148
Phenotypes for STR: FXTAS were set to Fragile X tremor/ataxia syndrome MIM#300623
Review for STR: FXTAS was set to GREEN
STR: FXTAS was marked as clinically relevant
Added comment: HGVS nomenclature - NM_002024.5:c.-129CGG[X]
RNA-mediated toxicity may result in the FXTAS phenotype, whereas loss of function through methylation silencing of FMR1 is associated with the FXS phenotype.
Intermediate (gray zone, inconclusive, borderline): ~45 to ~54 repeats
Premutation - risk of FXTAS: ~55 to ~200 repeats
Full mutation - fragile X syndrome (FXS): >200 repeats
Sources: Expert list
Ataxia - adult onset v0.64 STUB1 Zornitza Stark Marked gene: STUB1 as ready
Ataxia - adult onset v0.64 STUB1 Zornitza Stark Gene: stub1 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.64 STUB1 Zornitza Stark Phenotypes for gene: STUB1 were changed from Autosomal recessive spinocerebellar ataxia type 16, 615768; Spinocerebellar ataxia, autosomal recessive 16 to Spinocerebellar ataxia 48, MIM#618093
Ataxia - adult onset v0.63 STUB1 Zornitza Stark Publications for gene: STUB1 were set to
Ataxia - adult onset v0.62 STUB1 Zornitza Stark Mode of inheritance for gene: STUB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ataxia - adult onset v0.61 STUB1 Teresa Zhao reviewed gene: STUB1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32337344, PMID: 30381368, PMID: 31126790; Phenotypes: Spinocerebellar ataxia 48, MIM#618093; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ataxia - adult onset v0.61 CACNB4 Bryony Thompson Marked gene: CACNB4 as ready
Ataxia - adult onset v0.61 CACNB4 Bryony Thompson Gene: cacnb4 has been classified as Red List (Low Evidence).
Ataxia - adult onset v0.61 CACNB4 Bryony Thompson Mode of inheritance for gene: CACNB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - adult onset v0.60 CACNB4 Bryony Thompson Classified gene: CACNB4 as Red List (low evidence)
Ataxia - adult onset v0.60 CACNB4 Bryony Thompson Gene: cacnb4 has been classified as Red List (Low Evidence).
Ataxia - adult onset v0.58 SLC1A3 Bryony Thompson Classified gene: SLC1A3 as Green List (high evidence)
Ataxia - adult onset v0.58 SLC1A3 Bryony Thompson Gene: slc1a3 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.57 SLC1A3 Bryony Thompson gene: SLC1A3 was added
gene: SLC1A3 was added to Ataxia - adult onset. Sources: Literature
Mode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC1A3 were set to Episodic ataxia, type 6 MIM#612656
Review for gene: SLC1A3 was set to GREEN
Added comment: Onset mostly in infancy and childhood, but adult onset has been reported
Sources: Literature
Ataxia - adult onset v0.56 LMNB1 Bryony Thompson changed review comment from: Four unrelated families reported with cerebellar ataxia as a feature of the condition.
Sources: Expert list; to: Four unrelated families reported with adult onset cerebellar ataxia as a feature of the condition.
Sources: Expert list
Ataxia - adult onset v0.56 LMNB1 Bryony Thompson Marked gene: LMNB1 as ready
Ataxia - adult onset v0.56 LMNB1 Bryony Thompson Gene: lmnb1 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.56 LMNB1 Bryony Thompson Classified gene: LMNB1 as Green List (high evidence)
Ataxia - adult onset v0.56 LMNB1 Bryony Thompson Gene: lmnb1 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.55 LMNB1 Bryony Thompson gene: LMNB1 was added
gene: LMNB1 was added to Ataxia - adult onset. Sources: Expert list
Mode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMNB1 were set to 31695592
Phenotypes for gene: LMNB1 were set to Leukodystrophy, adult-onset, autosomal dominant MIM#169500
Review for gene: LMNB1 was set to GREEN
Added comment: Four unrelated families reported with cerebellar ataxia as a feature of the condition.
Sources: Expert list
Ataxia - adult onset v0.54 VWA3B Bryony Thompson Classified gene: VWA3B as Red List (low evidence)
Ataxia - adult onset v0.54 VWA3B Bryony Thompson Gene: vwa3b has been classified as Red List (Low Evidence).
Ataxia - adult onset v0.53 VWA3B Bryony Thompson edited their review of gene: VWA3B: Changed rating: RED
Ataxia - adult onset v0.53 PLD3 Bryony Thompson edited their review of gene: PLD3: Changed publications: 29053796, 30312375, 30312384
Ataxia - adult onset v0.53 CACNA1A Bryony Thompson Tag STR tag was added to gene: CACNA1A.
Ataxia - adult onset v0.53 CACNA1A Bryony Thompson Classified gene: CACNA1A as Green List (high evidence)
Ataxia - adult onset v0.53 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 - adult onset v0.53 CACNA1A Bryony Thompson Gene: cacna1a has been classified as Green List (High Evidence).
Ataxia - adult onset v0.52 TBP Bryony Thompson Marked gene: TBP as ready
Ataxia - adult onset v0.52 TBP Bryony Thompson Gene: tbp has been classified as Green List (High Evidence).
Ataxia - adult onset v0.52 TBP Bryony Thompson Classified gene: TBP as Green List (high evidence)
Ataxia - adult onset v0.52 TBP Bryony Thompson Added comment: Comment on list classification: Note: the trinucleotide repeat is the only cause of ataxia for this gene, which is not detected by current WES/WGS technologies.
Ataxia - adult onset v0.52 TBP Bryony Thompson Gene: tbp has been classified as Green List (High Evidence).
Ataxia - adult onset v0.51 TBP Bryony Thompson Tag STR tag was added to gene: TBP.
Ataxia - adult onset v0.51 TBP Bryony Thompson gene: TBP was added
gene: TBP was added to Ataxia - adult onset. Sources: Expert list
Mode of inheritance for gene: TBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBP were set to 10484774; 11448935
Phenotypes for gene: TBP were set to Spinocerebellar ataxia 17 MIM#607136
Mode of pathogenicity for gene: TBP was set to Other
Review for gene: TBP was set to GREEN
Added comment: Ataxia caused by an abnormal (CAG)n expansion in TBP to a range of 47 to 55 repeats. Identified in Japanese families.
Sources: Expert list
Ataxia - adult onset v0.50 PPP2R2B Bryony Thompson Marked gene: PPP2R2B as ready
Ataxia - adult onset v0.50 PPP2R2B Bryony Thompson Gene: ppp2r2b has been classified as Green List (High Evidence).
Ataxia - adult onset v0.50 PPP2R2B Bryony Thompson Classified gene: PPP2R2B as Green List (high evidence)
Ataxia - adult onset v0.50 PPP2R2B Bryony Thompson Added comment: Comment on list classification: Note: the trinucleotide repeat is the only cause of ataxia for this gene, which is not detected by current WES/WGS technologies.
Ataxia - adult onset v0.50 PPP2R2B Bryony Thompson Gene: ppp2r2b has been classified as Green List (High Evidence).
Ataxia - adult onset v0.49 PPP2R2B Bryony Thompson gene: PPP2R2B was added
gene: PPP2R2B was added to Ataxia - adult onset. Sources: Expert list
STR tags were added to gene: PPP2R2B.
Mode of inheritance for gene: PPP2R2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP2R2B were set to 10581021; 16138911
Phenotypes for gene: PPP2R2B were set to Spinocerebellar ataxia 12 MIM#604326
Mode of pathogenicity for gene: PPP2R2B was set to Other
Review for gene: PPP2R2B was set to GREEN
Added comment: Ataxia cause by CAG repeat. Normal CAG repeat length is 7 to 32 triplets, and pathogenic CAG repeat length is 51 to 78 triplets
Sources: Expert list
Ataxia - adult onset v0.48 DAB1 Bryony Thompson Marked gene: DAB1 as ready
Ataxia - adult onset v0.48 DAB1 Bryony Thompson Gene: dab1 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.48 DAB1 Bryony Thompson Classified gene: DAB1 as Green List (high evidence)
Ataxia - adult onset v0.48 DAB1 Bryony Thompson Added comment: Comment on list classification: Note: the pentanucleotide repeat is the only cause of ataxia for this gene, which is not detected by current WES/WGS technologies.
Ataxia - adult onset v0.48 DAB1 Bryony Thompson Gene: dab1 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.47 DAB1 Bryony Thompson gene: DAB1 was added
gene: DAB1 was added to Ataxia - adult onset. Sources: Expert list
STR tags were added to gene: DAB1.
Mode of inheritance for gene: DAB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DAB1 were set to 28686858
Phenotypes for gene: DAB1 were set to Spinocerebellar ataxia 37 MIM#615945
Mode of pathogenicity for gene: DAB1 was set to Other
Review for gene: DAB1 was set to GREEN
Added comment: In 35 affected individuals from 3 large, multigenerational kindreds from southern Portugal with ataxia had expansion of a heterozygous 5-bp ATTTC(n) insertion in the 5-prime UTR intron 3 of the DAB1 gene.
Sources: Expert list
Ataxia - adult onset v0.46 ATXN10 Bryony Thompson Marked gene: ATXN10 as ready
Ataxia - adult onset v0.46 ATXN10 Bryony Thompson Gene: atxn10 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.46 ATXN10 Bryony Thompson Classified gene: ATXN10 as Green List (high evidence)
Ataxia - adult onset v0.46 ATXN10 Bryony Thompson Added comment: Comment on list classification: Note: the pentanucleotide repeat is the only cause of ataxia for this gene, which is not detected by current WES/WGS technologies.
Ataxia - adult onset v0.46 ATXN10 Bryony Thompson Gene: atxn10 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.45 ATXN10 Bryony Thompson gene: ATXN10 was added
gene: ATXN10 was added to Ataxia - adult onset. Sources: Expert list
STR tags were added to gene: ATXN10.
Mode of inheritance for gene: ATXN10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATXN10 were set to 11017075; 15127363
Phenotypes for gene: ATXN10 were set to Spinocerebellar ataxia 10 MIM#603516
Mode of pathogenicity for gene: ATXN10 was set to Other
Review for gene: ATXN10 was set to GREEN
Added comment: Ataxia in 5 Mexican families, caused by an expansion of a pentanucleotide (ATTCT) repeat in intron 9 of the ATXN10 gene. There was an inverse correlation between the expansion size, up to 22.5 kb larger than the normal allele, and the age of onset.
Sources: Expert list
Ataxia - adult onset v0.44 ATXN8 Bryony Thompson Marked gene: ATXN8 as ready
Ataxia - adult onset v0.44 ATXN8 Bryony Thompson Gene: atxn8 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.44 ATXN8 Bryony Thompson Classified gene: ATXN8 as Green List (high evidence)
Ataxia - adult onset v0.44 ATXN8 Bryony Thompson Added comment: Comment on list classification: Note: the trinucleotide repeat is the only cause of ataxia for this gene, which is not detected by current WES/WGS technologies.
Ataxia - adult onset v0.44 ATXN8 Bryony Thompson Gene: atxn8 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.43 ATXN8 Bryony Thompson gene: ATXN8 was added
gene: ATXN8 was added to Ataxia - adult onset. Sources: Expert list
STR tags were added to gene: ATXN8.
Mode of inheritance for gene: ATXN8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATXN8 were set to 16804541
Phenotypes for gene: ATXN8 were set to Spinocerebellar ataxia 8 MIM#608768
Mode of pathogenicity for gene: ATXN8 was set to Other
Review for gene: ATXN8 was set to GREEN
Added comment: Adult onset cerebellar ataxia caused by expanded CAG repeat. Normal alleles contain 15 to 50 repeats, and pathogenic alleles contain 71 to 1,300 repeats.
Sources: Expert list
Ataxia - adult onset v0.42 ATXN7 Bryony Thompson Marked gene: ATXN7 as ready
Ataxia - adult onset v0.42 ATXN7 Bryony Thompson Gene: atxn7 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.42 ATXN7 Bryony Thompson Classified gene: ATXN7 as Green List (high evidence)
Ataxia - adult onset v0.42 ATXN7 Bryony Thompson Added comment: Comment on list classification: Note: the trinucleotide repeat is the only cause of ataxia for this gene, which is not detected by current WES/WGS technologies.
Ataxia - adult onset v0.42 ATXN7 Bryony Thompson Gene: atxn7 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.41 ATXN7 Bryony Thompson gene: ATXN7 was added
gene: ATXN7 was added to Ataxia - adult onset. Sources: Expert list
STR tags were added to gene: ATXN7.
Mode of inheritance for gene: ATXN7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATXN7 were set to 9288099
Phenotypes for gene: ATXN7 were set to Spinocerebellar ataxia 7 MIM#164500
Mode of pathogenicity for gene: ATXN7 was set to Other
Review for gene: ATXN7 was set to GREEN
Added comment: Adult onset progressive cerebellar ataxia associated with pigmental macular dystrophy, caused by a highly unstable CAG repeat expansion. On mutated alleles, CAG repeat size was highly variable, ranging from 38 to 130 repeats, whereas on normal alleles it ranged from 7 to 17 repeats.
Sources: Expert list
Ataxia - adult onset v0.40 ATXN3 Bryony Thompson Marked gene: ATXN3 as ready
Ataxia - adult onset v0.40 ATXN3 Bryony Thompson Gene: atxn3 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.40 ATXN3 Bryony Thompson Classified gene: ATXN3 as Green List (high evidence)
Ataxia - adult onset v0.40 ATXN3 Bryony Thompson Added comment: Comment on list classification: Note: the trinucleotide repeat is the only cause of ataxia for this gene, which is not detected by current WES/WGS technologies.
Ataxia - adult onset v0.40 ATXN3 Bryony Thompson Gene: atxn3 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.39 ATXN3 Bryony Thompson gene: ATXN3 was added
gene: ATXN3 was added to Ataxia - adult onset. Sources: Expert list
STR tags were added to gene: ATXN3.
Mode of inheritance for gene: ATXN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATXN3 were set to 7874163
Phenotypes for gene: ATXN3 were set to Machado-Joseph disease MIM#109150; spindocerebellar ataxia 3
Mode of pathogenicity for gene: ATXN3 was set to Other
Review for gene: ATXN3 was set to GREEN
Added comment: Adult onset ataxia: caused by an expansion of a (CAG)n repeat in the ATXN3 gene. In normal individuals, the gene contains between 13 and 36 CAG repeats, whereas most patients with clinically diagnosed MJD showed expansion of the repeat number in the range of 68 to 79 copies.
Sources: Expert list
Ataxia - adult onset v0.38 ATXN2 Bryony Thompson Marked gene: ATXN2 as ready
Ataxia - adult onset v0.38 ATXN2 Bryony Thompson Gene: atxn2 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.38 ATXN2 Bryony Thompson Classified gene: ATXN2 as Green List (high evidence)
Ataxia - adult onset v0.38 ATXN2 Bryony Thompson Added comment: Comment on list classification: Note: the trinucleotide repeat is the only cause of ataxia for this gene, which is not detected by current WES/WGS technologies.
Ataxia - adult onset v0.38 ATXN2 Bryony Thompson Gene: atxn2 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.37 ATXN2 Bryony Thompson gene: ATXN2 was added
gene: ATXN2 was added to Ataxia - adult onset. Sources: Expert list
STR tags were added to gene: ATXN2.
Mode of inheritance for gene: ATXN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATXN2 were set to 8896555; 8896556
Phenotypes for gene: ATXN2 were set to Spinocerebellar ataxia 2 MIM#183090
Mode of pathogenicity for gene: ATXN2 was set to Other
Review for gene: ATXN2 was set to GREEN
Added comment: Mean age of onset of ataxia in third decade: (CAG)n repeat located in the 5-prime end of the coding region of the ATXN2 gene. SCA2 patient chromosomes usually contain expanded repeats ranging in size from 35 to 59 units.
Sources: Expert list
Ataxia - adult onset v0.36 ATXN1 Bryony Thompson changed review comment from: From OMIM: The cause of spinocerebellar ataxia-1 is an expansion of a (CAG)n repeat in the gene encoding ataxin-1 located on 6p. Alleles with 36 to 38 triplets were present in individuals with ataxia but without additional characteristic features of SCA1. SCA1 phenotypes were found for patients with 41 and 43 triplets.
Sources: Expert list; to: Adult onset ataxia.
From OMIM: The cause of spinocerebellar ataxia-1 is an expansion of a (CAG)n repeat in the gene encoding ataxin-1 located on 6p. Alleles with 36 to 38 triplets were present in individuals with ataxia but without additional characteristic features of SCA1. SCA1 phenotypes were found for patients with 41 and 43 triplets.
Sources: Expert list
Ataxia - adult onset v0.36 ATXN1 Bryony Thompson Marked gene: ATXN1 as ready
Ataxia - adult onset v0.36 ATXN1 Bryony Thompson Gene: atxn1 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.36 ATXN1 Bryony Thompson Classified gene: ATXN1 as Green List (high evidence)
Ataxia - adult onset v0.36 ATXN1 Bryony Thompson Added comment: Comment on list classification: Note: the trinucleotide repeat is the only cause of ataxia for this gene, which is not detected by current WES/WGS technologies.
Ataxia - adult onset v0.36 ATXN1 Bryony Thompson Gene: atxn1 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.35 ATXN1 Bryony Thompson gene: ATXN1 was added
gene: ATXN1 was added to Ataxia - adult onset. Sources: Expert list
STR tags were added to gene: ATXN1.
Mode of inheritance for gene: ATXN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATXN1 were set to 8358429; 11973625
Phenotypes for gene: ATXN1 were set to Spinocerebellar ataxia 1 MIM#164400
Mode of pathogenicity for gene: ATXN1 was set to Other
Review for gene: ATXN1 was set to GREEN
Added comment: From OMIM: The cause of spinocerebellar ataxia-1 is an expansion of a (CAG)n repeat in the gene encoding ataxin-1 located on 6p. Alleles with 36 to 38 triplets were present in individuals with ataxia but without additional characteristic features of SCA1. SCA1 phenotypes were found for patients with 41 and 43 triplets.
Sources: Expert list
Ataxia - adult onset v0.34 ATN1 Bryony Thompson Classified gene: ATN1 as Green List (high evidence)
Ataxia - adult onset v0.34 ATN1 Bryony Thompson Added comment: Comment on list classification: Note: trinucleotide repeat is the only cause of ataxia for this gene. STRs are currently not detectable in WES/WGS technologies.
Ataxia - adult onset v0.34 ATN1 Bryony Thompson Gene: atn1 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.33 ATN1 Bryony Thompson Marked gene: ATN1 as ready
Ataxia - adult onset v0.33 ATN1 Bryony Thompson Gene: atn1 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.33 ATN1 Bryony Thompson Classified gene: ATN1 as Green List (high evidence)
Ataxia - adult onset v0.33 ATN1 Bryony Thompson Gene: atn1 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.32 ATN1 Bryony Thompson gene: ATN1 was added
gene: ATN1 was added to Ataxia - adult onset. Sources: Expert list
STR tags were added to gene: ATN1.
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATN1 were set to 7633415
Phenotypes for gene: ATN1 were set to Dentatorubral-pallidoluysian atrophy MIM#125370
Mode of pathogenicity for gene: ATN1 was set to Other
Review for gene: ATN1 was set to GREEN
Added comment: DRPLA contains various combinations of myoclonus, seizures, ataxia, choreoathetosis, and dementia, and is only caused by trinucleotide repeat expansion. Mean age of onset is 30 years of age.
From OMIM: In 22 patients unstable expansion of a CAG unit in the DRPLA gene was identified. Each patient was a heterozygote with 1 allele in the normal range (8-25 repeat units) and a second expanded allele with the range of 54-68 repeat units. There were no overlaps in the number of CAG repeat units between control chromosomes and DRPLA chromosomes.
Sources: Expert list
Ataxia - adult onset v0.31 FXN Bryony Thompson Classified gene: FXN as Green List (high evidence)
Ataxia - adult onset v0.31 FXN Bryony Thompson Added comment: Comment on list classification: Both repeat and SNV can cause disease
Ataxia - adult onset v0.31 FXN Bryony Thompson Gene: fxn has been classified as Green List (High Evidence).
Ataxia - adult onset v0.30 FXN Bryony Thompson Tag STR tag was added to gene: FXN.
Ataxia - adult onset v0.30 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Ataxia - adult onset v0.29 FMR1 Bryony Thompson Tag STR tag was added to gene: FMR1.
Ataxia - adult onset v0.29 BEAN1 Bryony Thompson Marked gene: BEAN1 as ready
Ataxia - adult onset v0.29 BEAN1 Bryony Thompson Gene: bean1 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.29 BEAN1 Bryony Thompson Classified gene: BEAN1 as Green List (high evidence)
Ataxia - adult onset v0.29 BEAN1 Bryony Thompson Gene: bean1 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.28 ZFYVE26 Bryony Thompson Marked gene: ZFYVE26 as ready
Ataxia - adult onset v0.28 ZFYVE26 Bryony Thompson Gene: zfyve26 has been classified as Amber List (Moderate Evidence).
Ataxia - adult onset v0.28 ZFYVE26 Bryony Thompson Classified gene: ZFYVE26 as Amber List (moderate evidence)
Ataxia - adult onset v0.28 ZFYVE26 Bryony Thompson Gene: zfyve26 has been classified as Amber List (Moderate Evidence).
Ataxia - adult onset v0.27 ZFYVE26 Bryony Thompson reviewed gene: ZFYVE26: Rating: AMBER; Mode of pathogenicity: None; Publications: 24367272, 18394578; Phenotypes: Spastic paraplegia 15, autosomal recessive MIM#270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - adult onset v0.27 XRCC1 Bryony Thompson reviewed gene: XRCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28002403, 29472272; Phenotypes: Spinocerebellar ataxia, autosomal recessive 26 MIM#617633; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - adult onset v0.27 VWA3B Bryony Thompson reviewed gene: VWA3B: Rating: AMBER; Mode of pathogenicity: None; Publications: 26157035; Phenotypes: Spinocerebellar ataxia, autosomal recessive 22 MIM#616948; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - adult onset v0.27 TRPC3 Bryony Thompson Marked gene: TRPC3 as ready
Ataxia - adult onset v0.27 TRPC3 Bryony Thompson Gene: trpc3 has been classified as Amber List (Moderate Evidence).
Ataxia - adult onset v0.27 TRPC3 Bryony Thompson reviewed gene: TRPC3: Rating: AMBER; Mode of pathogenicity: Other; Publications: 25477146, 19351902; Phenotypes: Spinocerebellar ataxia 41 MIM#616410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - adult onset v0.27 TGM6 Bryony Thompson Marked gene: TGM6 as ready
Ataxia - adult onset v0.27 TGM6 Bryony Thompson Gene: tgm6 has been classified as Red List (Low Evidence).
Ataxia - adult onset v0.27 TGM6 Bryony Thompson Classified gene: TGM6 as Red List (low evidence)
Ataxia - adult onset v0.27 TGM6 Bryony Thompson Gene: tgm6 has been classified as Red List (Low Evidence).
Ataxia - adult onset v0.26 TGM6 Bryony Thompson reviewed gene: TGM6: Rating: RED; Mode of pathogenicity: None; Publications: 30670339; Phenotypes: Spinocerebellar ataxia 35 MIM#613908; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - adult onset v0.26 RFC1 Bryony Thompson Classified gene: RFC1 as Green List (high evidence)
Ataxia - adult onset v0.26 RFC1 Bryony Thompson Gene: rfc1 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.25 RFC1 Bryony Thompson Tag STR tag was added to gene: RFC1.
Ataxia - adult onset v0.25 RFC1 Bryony Thompson Classified gene: RFC1 as Red List (low evidence)
Ataxia - adult onset v0.25 RFC1 Bryony Thompson Added comment: Comment on list classification: CANVAS is associated with expansion of an intronic pentanucleotide repeat. Not detectable with WES testing.
Ataxia - adult onset v0.25 RFC1 Bryony Thompson Gene: rfc1 has been classified as Red List (Low Evidence).
Ataxia - adult onset v0.24 RFC1 Bryony Thompson Deleted their review
Ataxia - adult onset v0.24 PLD3 Bryony Thompson reviewed gene: PLD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 29053796; Phenotypes: Spinocerebellar ataxia 46 MIM#617770; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - adult onset v0.23 NOL3 Bryony Thompson Marked gene: NOL3 as ready
Ataxia - adult onset v0.23 NOL3 Bryony Thompson Gene: nol3 has been classified as Red List (Low Evidence).
Ataxia - adult onset v0.23 NOL3 Bryony Thompson Classified gene: NOL3 as Red List (low evidence)
Ataxia - adult onset v0.23 NOL3 Bryony Thompson Gene: nol3 has been classified as Red List (Low Evidence).
Ataxia - adult onset v0.22 NOL3 Bryony Thompson reviewed gene: NOL3: Rating: RED; Mode of pathogenicity: None; Publications: 22926851; Phenotypes: Myoclonus, familial, 1 MIM#614937; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - adult onset v0.22 MME Bryony Thompson reviewed gene: MME: Rating: RED; Mode of pathogenicity: None; Publications: 27583304; Phenotypes: Spinocerebellar ataxia 43 MIM#617018; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - adult onset v0.22 BEAN1 Bryony Thompson Classified gene: BEAN1 as Red List (low evidence)
Ataxia - adult onset v0.22 BEAN1 Bryony Thompson Added comment: Comment on list classification: Repeat is the only reported cause of condition, which cannot be detected with current NGS technology.
Ataxia - adult onset v0.22 BEAN1 Bryony Thompson Gene: bean1 has been classified as Red List (Low Evidence).
Ataxia - adult onset v0.21 BEAN1 Bryony Thompson Tag STR tag was added to gene: BEAN1.
Ataxia - adult onset v0.21 BEAN1 Bryony Thompson reviewed gene: BEAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19878914; Phenotypes: Spinocerebellar ataxia 31 MIM#117210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - adult onset v0.21 BEAN1 Bryony Thompson Deleted their review
Ataxia - adult onset v0.21 PRRT2 Bryony Thompson reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30501978, 30713971, 27423591, 25595153; Phenotypes: Episodic kinesigenic dyskinesia 1 MIM#128200, Convulsions, familial infantile, with paroxysmal choreoathetosis MIM#602066, Seizures, benign familial infantile, 2 MIM#605751; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ataxia - adult onset v0.21 MTCL1 Bryony Thompson Marked gene: MTCL1 as ready
Ataxia - adult onset v0.21 MTCL1 Bryony Thompson Gene: mtcl1 has been classified as Amber List (Moderate Evidence).
Ataxia - adult onset v0.21 MTCL1 Bryony Thompson Classified gene: MTCL1 as Amber List (moderate evidence)
Ataxia - adult onset v0.21 MTCL1 Bryony Thompson Gene: mtcl1 has been classified as Amber List (Moderate Evidence).
Ataxia - adult onset v0.20 MTCL1 Bryony Thompson gene: MTCL1 was added
gene: MTCL1 was added to Ataxia - adult onset. Sources: Expert list
Mode of inheritance for gene: MTCL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MTCL1 were set to 30548255; 28283581
Phenotypes for gene: MTCL1 were set to spinocerebellar ataxia
Review for gene: MTCL1 was set to AMBER
Added comment: Single case with a homozygous loss of function variant in a Polish study of early-onset cerebellar ataxia, and a single family with a single heterozygous missense (p.Val1435Met) identified in two family members with adult-onset spinocerebellar ataxia. Mtcl1 gene disruption in mice results in abnormal motor coordination with Purkinje cell degeneration
Sources: Expert list
Ataxia - adult onset v0.19 VPS13D Zornitza Stark Marked gene: VPS13D as ready
Ataxia - adult onset v0.19 VPS13D Zornitza Stark Gene: vps13d has been classified as Green List (High Evidence).
Ataxia - adult onset v0.19 VPS13D Zornitza Stark reviewed gene: VPS13D: Rating: GREEN; Mode of pathogenicity: None; Publications: 29604224, 29518281; Phenotypes: Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - adult onset v0.19 MARS2 Bryony Thompson Classified gene: MARS2 as Green List (high evidence)
Ataxia - adult onset v0.19 MARS2 Bryony Thompson Added comment: Comment on list classification: Only large duplications have been reported in ataxia. WES is not a suitable method of detection for SV/CNVs.
Ataxia - adult onset v0.19 MARS2 Bryony Thompson Gene: mars2 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.18 MARS2 Bryony Thompson Deleted their review
Ataxia - adult onset v0.18 ATP1A2 Bryony Thompson Marked gene: ATP1A2 as ready
Ataxia - adult onset v0.18 ATP1A2 Bryony Thompson Gene: atp1a2 has been classified as Red List (Low Evidence).
Ataxia - adult onset v0.18 ATP1A2 Bryony Thompson Classified gene: ATP1A2 as Red List (low evidence)
Ataxia - adult onset v0.18 ATP1A2 Bryony Thompson Gene: atp1a2 has been classified as Red List (Low Evidence).
Ataxia - adult onset v0.17 ATP1A2 Bryony Thompson reviewed gene: ATP1A2: Rating: RED; Mode of pathogenicity: None; Publications: 29343472; Phenotypes: ; Mode of inheritance: None
Ataxia - adult onset v0.17 CSF1R Bryony Thompson Marked gene: CSF1R as ready
Ataxia - adult onset v0.17 CSF1R Bryony Thompson Gene: csf1r has been classified as Green List (High Evidence).
Ataxia - adult onset v0.17 CSF1R Bryony Thompson Classified gene: CSF1R as Green List (high evidence)
Ataxia - adult onset v0.17 CSF1R Bryony Thompson Gene: csf1r has been classified as Green List (High Evidence).
Ataxia - adult onset v0.16 CSF1R Bryony Thompson gene: CSF1R was added
gene: CSF1R was added to Ataxia - adult onset. Sources: Literature
Mode of inheritance for gene: CSF1R was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CSF1R were set to 24198292; 25563800; 25935893
Phenotypes for gene: CSF1R were set to Leukoencephalopathy, diffuse hereditary, with spheroids MIM#221820; ataxia
Review for gene: CSF1R was set to GREEN
Added comment: At least 6 reported cases where ataxia is a feature of the condition.
Sources: Literature
Ataxia - adult onset v0.15 CACNA1G Bryony Thompson Marked gene: CACNA1G as ready
Ataxia - adult onset v0.15 CACNA1G Bryony Thompson Gene: cacna1g has been classified as Green List (High Evidence).
Ataxia - adult onset v0.15 ATP1A2 Bryony Thompson Marked gene: ATP1A2 as ready
Ataxia - adult onset v0.15 ATP1A2 Bryony Thompson Gene: atp1a2 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.15 ABCD1 Bryony Thompson Marked gene: ABCD1 as ready
Ataxia - adult onset v0.15 ABCD1 Bryony Thompson Gene: abcd1 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.15 AAAS Bryony Thompson Marked gene: AAAS as ready
Ataxia - adult onset v0.15 AAAS Bryony Thompson Gene: aaas has been classified as Green List (High Evidence).
Ataxia - adult onset v0.15 IFRD1 Bryony Thompson Marked gene: IFRD1 as ready
Ataxia - adult onset v0.15 IFRD1 Bryony Thompson Gene: ifrd1 has been classified as Red List (Low Evidence).
Ataxia - adult onset v0.15 IFRD1 Bryony Thompson gene: IFRD1 was added
gene: IFRD1 was added to Ataxia - adult onset. Sources: Literature
Mode of inheritance for gene: IFRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IFRD1 were set to 29362493; 28601596; 19409521
Phenotypes for gene: IFRD1 were set to Spinocerebellar ataxia 18 MIM#607458
Review for gene: IFRD1 was set to RED
Added comment: The variant (c.514 A>G, p.I172V) was identified in a 5-generation American family of Irish ancestry with sensorimotor neuropathy with ataxia in two affected individuals sequenced. It is too common (0.3%) for a dominant condition in the African population in gnomAD. The same variant segregated with slowly progressing gait ataxia, pyramidal tract signs and peripheral neuropathy in three siblings from a Chinese family. No functional analyses of the variant has been conducted. A different variant (c.4C>G p.Pro2Ala) in the gene has been identified in a case with isolated palatal tremor, with no ataxia in the case or reported in the family. SCA18 is currently mapped to the genomic region on OMIM, not this gene.
Sources: Literature
Ataxia - adult onset v0.14 Bryony Thompson Panel types changed to Royal Melbourne Hospital; Rare Disease
Ataxia - adult onset v0.13 Bryony Thompson Panel name changed from Ataxia - adult onset_RMH to Ataxia - adult onset
Panel types changed to Royal Melbourne Hospital
Ataxia - adult onset v0.12 TSEN54 Bryony Thompson gene: TSEN54 was added
gene: TSEN54 was added to Ataxia - adult onset_RMH. Sources: Expert list
Mode of inheritance for gene: TSEN54 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TSEN54 were set to 24938831
Phenotypes for gene: TSEN54 were set to adult-onset cerebellar ataxia
Review for gene: TSEN54 was set to RED
Added comment: One family with adult-onset hereditary ataxia reported to segregate a heterozygous missense variant in this gene. Biallelic variants are associated with various forms of pontocerebellar hyploplasia where affected individuals do not live past childhood.
Sources: Expert list
Ataxia - adult onset v0.11 SEPSECS Bryony Thompson gene: SEPSECS was added
gene: SEPSECS was added to Ataxia - adult onset_RMH. Sources: Expert list
Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEPSECS were set to 29464431
Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D, 613811; cerebellar ataxia and cognitive impairment
Review for gene: SEPSECS was set to RED
Added comment: Ataxia not a prominent feature of the phenotype. A single report of a 23-year-old woman with slowly progressive cerebellar ataxia and cognitive impairment, with a homozygous missense mutation.
Sources: Expert list
Ataxia - adult onset v0.10 RFC1 Bryony Thompson gene: RFC1 was added
gene: RFC1 was added to Ataxia - adult onset_RMH. Sources: Expert list
Mode of inheritance for gene: RFC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFC1 were set to 30926972
Phenotypes for gene: RFC1 were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, 614575; CANVAS
Review for gene: RFC1 was set to RED
Added comment: CANVAS is associated with expansion of an intronic pentanucleotide repeat. Not detectable with WES testing.
Sources: Expert list
Ataxia - adult onset v0.8 CAPN1 Bryony Thompson Marked gene: CAPN1 as ready
Ataxia - adult onset v0.8 CAPN1 Bryony Thompson Gene: capn1 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.8 CAPN1 Bryony Thompson Classified gene: CAPN1 as Green List (high evidence)
Ataxia - adult onset v0.8 CAPN1 Bryony Thompson Gene: capn1 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.7 CAPN1 Bryony Thompson gene: CAPN1 was added
gene: CAPN1 was added to Ataxia - adult onset_RMH. Sources: Expert list
Mode of inheritance for gene: CAPN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAPN1 were set to 27320912; 29678961; 30572172; 31023339; 31104286
Phenotypes for gene: CAPN1 were set to Spastic paraplegia 76, autosomal recessive, 616907
Review for gene: CAPN1 was set to GREEN
Added comment: Homozygous or compound heterozygotes reported in 4 independent families with cerebellar ataxia and knockout mouse exhibit ataxia (PMID: 27320912). Multiple reports of homozygous cases with hereditary spastic paraparesis and spastic ataxia (PMID: 29678961, 30572172, 31023339, 31104286). Onset in young adulthood.
Sources: Expert list
Ataxia - adult onset v0.6 FDXR Bryony Thompson gene: FDXR was added
gene: FDXR was added to Ataxia - adult onset_RMH. Sources: Expert list
Mode of inheritance for gene: FDXR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FDXR were set to Auditory neuropathy and optic atrophy, 617717
Review for gene: FDXR was set to RED
Added comment: Ataxia is not a reported feature of the phenotype for this condition.
Sources: Expert list
Ataxia - adult onset v0.5 BEAN1 Bryony Thompson gene: BEAN1 was added
gene: BEAN1 was added to Ataxia - adult onset_RMH. Sources: Expert list
Mode of inheritance for gene: BEAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BEAN1 were set to Spinocerebellar ataxia 31, 117210; autosomal dominant cerebellar ataxia type III
Review for gene: BEAN1 was set to RED
Added comment: Pentanucleotide repeat causes disease, which is not detectable with WES testing.
Sources: Expert list
Ataxia - adult onset v0.4 MARS2 Bryony Thompson Marked gene: MARS2 as ready
Ataxia - adult onset v0.4 MARS2 Bryony Thompson Gene: mars2 has been classified as Red List (Low Evidence).
Ataxia - adult onset v0.4 MARS2 Bryony Thompson gene: MARS2 was added
gene: MARS2 was added to Ataxia - adult onset_RMH. 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, 611390
Review for gene: MARS2 was set to RED
Added comment: Only large duplications have been reported in ataxia. WES is not a suitable method of detection for SV/CNVs.
Sources: Expert list
Ataxia - adult onset v0.3 SPTBN2 Bryony Thompson Marked gene: SPTBN2 as ready
Ataxia - adult onset v0.3 SPTBN2 Bryony Thompson Gene: sptbn2 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.3 SPTBN2 Bryony Thompson Phenotypes for gene: SPTBN2 were changed from SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; Spinocerebellar ataxia 5; Spinocerebellar ataxia 5, 600224; SPINOCEREBELLAR ATAXIA 5 (autosomal dominant); Spinocerebellar ataxia, autosomal recessive 14; Spinocerebellar Ataxia, Dominant; Autosomal recessive spinocerebellar ataxia 14, 615386 to Spinocerebellar ataxia 5, 600224; Spinocerebellar ataxia, autosomal recessive 14, 615386
Ataxia - adult onset v0.1 ATP7B Bryony Thompson Classified gene: ATP7B as Red List (low evidence)
Ataxia - adult onset v0.1 ATP7B Bryony Thompson Gene: atp7b has been classified as Red List (Low Evidence).
Ataxia - adult onset v0.0 ATP7B Bryony Thompson Marked gene: ATP7B as ready
Ataxia - adult onset v0.0 ATP7B Bryony Thompson Gene: atp7b has been classified as Green List (High Evidence).
Ataxia - adult onset v0.0 ATP7B Zornitza Stark reviewed gene: ATP7B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Wilson disease, MIM#277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - adult onset v0.0 ATP1A2 Zornitza Stark reviewed gene: ATP1A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alternating hemiplegia of childhood 1, MIM#104290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - adult onset v0.0 ZFYVE26 Bryony Thompson gene: ZFYVE26 was added
gene: ZFYVE26 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZFYVE26 were set to 24367272; 18394578
Phenotypes for gene: ZFYVE26 were set to Autosomal recessive spastic paraplegia 15, 270700
Ataxia - adult onset v0.0 PRRT2 Bryony Thompson gene: PRRT2 was added
gene: PRRT2 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PRRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRRT2 were set to 26598494; 31193310; 30501978; 30713971
Phenotypes for gene: PRRT2 were set to Familial infantile convulsions with paroxysmal dyskinesia 1, 602066; CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; episodic kinesigenic dyskinesia; dystonia and occasionally hemiplegic migraine and epilepsy; episodic kinesigenic dyskinesia, 128200; EPISODIC KINESIGENIC DYSKINESIA 1; SEIZURES, BENIGN FAMILIAL INFANTILE, 2
Ataxia - adult onset v0.0 NOL3 Bryony Thompson gene: NOL3 was added
gene: NOL3 was added to Ataxia - adult onset_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: NOL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NOL3 were set to 22926851
Phenotypes for gene: NOL3 were set to Myoclonus, familial cortical
Ataxia - adult onset v0.0 ITM2B Bryony Thompson gene: ITM2B was added
gene: ITM2B was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ITM2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ITM2B were set to Cerebellar ataxia, cataract, deafness, and dementia or psychosis; Danish familial dementia
Ataxia - adult onset v0.0 DNAJC5 Bryony Thompson gene: DNAJC5 was added
gene: DNAJC5 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DNAJC5 were set to Ceroid lipofuscinosis, neuronal, 4, Parry type 162350; Ceroid neuronal lipofuscinosis 4, Parry type, 162350
Ataxia - adult onset v0.0 ATP7B Bryony Thompson gene: ATP7B was added
gene: ATP7B was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP7B were set to Wilson disease 277900; Wilson disease, 277900
Ataxia - adult onset v0.0 ATP1A2 Bryony Thompson gene: ATP1A2 was added
gene: ATP1A2 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATP1A2 were set to Alternating hemiplegia of childhood 1, 104290; Familial hemiplegic migraine 2, 602481
Ataxia - adult onset v0.0 ABCD1 Bryony Thompson gene: ABCD1 was added
gene: ABCD1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ABCD1 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: ABCD1 were set to Adrenoleukodystrophy
Ataxia - adult onset v0.0 AAAS Bryony Thompson gene: AAAS was added
gene: AAAS was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AAAS were set to Triple A syndrome, 231550; Achalasia-addisonianism-alacrimia syndrome, 231550
Ataxia - adult onset v0.0 SYT14 Bryony Thompson gene: SYT14 was added
gene: SYT14 was added to Ataxia - adult onset_RMH. Sources: Expert Review Red,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: SYT14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SYT14 were set to 21835308
Phenotypes for gene: SYT14 were set to ?Spinocerebellarataxia,autosomalrecessive11,614229
Ataxia - adult onset v0.0 CACNB4 Bryony Thompson gene: CACNB4 was added
gene: CACNB4 was added to Ataxia - adult onset_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNB4 were set to 10762541; 27003325; 9628818
Phenotypes for gene: CACNB4 were set to Episodic ataxia type 5, 613855
Ataxia - adult onset v0.0 VWA3B Bryony Thompson gene: VWA3B was added
gene: VWA3B was added to Ataxia - adult onset_RMH. Sources: GeneReviews,Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: VWA3B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VWA3B were set to 26157035
Phenotypes for gene: VWA3B were set to ?Spinocerebellar ataxia, autosomal recessive 22
Ataxia - adult onset v0.0 PLD3 Bryony Thompson gene: PLD3 was added
gene: PLD3 was added to Ataxia - adult onset_RMH. Sources: GeneReviews,Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: PLD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PLD3 were set to 30312375; 30312384; 29053796
Phenotypes for gene: PLD3 were set to ?Spinocerebellar ataxia 46
Ataxia - adult onset v0.0 FAT2 Bryony Thompson gene: FAT2 was added
gene: FAT2 was added to Ataxia - adult onset_RMH. Sources: GeneReviews,Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: FAT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FAT2 were set to 29053796
Phenotypes for gene: FAT2 were set to Spinocerebellar ataxia 45
Ataxia - adult onset v0.0 MME Bryony Thompson gene: MME was added
gene: MME was added to Ataxia - adult onset_RMH. Sources: Expert Review Red,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: MME was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MME were set to 27583304
Phenotypes for gene: MME were set to ?Spinocerebellar ataxia type 43, 617018
Ataxia - adult onset v0.0 TRPC3 Bryony Thompson gene: TRPC3 was added
gene: TRPC3 was added to Ataxia - adult onset_RMH. Sources: GeneReviews,Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: TRPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRPC3 were set to 25477146; 26112884
Ataxia - adult onset v0.0 CCDC88C Bryony Thompson gene: CCDC88C was added
gene: CCDC88C was added to Ataxia - adult onset_RMH. Sources: GeneReviews,Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: CCDC88C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CCDC88C were set to 25062847; 30398676
Phenotypes for gene: CCDC88C were set to autosomal dominant spinocerebellar ataxia; ?Spinocerebellar ataxia 40, 616053
Ataxia - adult onset v0.0 TGM6 Bryony Thompson gene: TGM6 was added
gene: TGM6 was added to Ataxia - adult onset_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: TGM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TGM6 were set to 25253745; 21106500; 28934387; 22554020; 30670339; 29053796; 23206699
Phenotypes for gene: TGM6 were set to Spinocerebellar ataxia 35, 613908; Spinocerebellar ataxia 35
Ataxia - adult onset v0.0 EEF2 Bryony Thompson gene: EEF2 was added
gene: EEF2 was added to Ataxia - adult onset_RMH. Sources: Expert Review Red,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EEF2 were set to 15732118; 23001565
Phenotypes for gene: EEF2 were set to ?Spinocerebellar ataxia 26
Ataxia - adult onset v0.0 XRCC1 Bryony Thompson gene: XRCC1 was added
gene: XRCC1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: XRCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC1 were set to 29472272; 28002403
Phenotypes for gene: XRCC1 were set to ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia; Autosomal recessive spinocerebellar ataxia 26, 617633
Ataxia - adult onset v0.0 VPS13D Bryony Thompson gene: VPS13D was added
gene: VPS13D was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: VPS13D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13D were set to Spinocerebellar ataxia, autosomal recessive 4, 607317; Autosomal recessive spinocerebellar ataxia 4, 608877
Ataxia - adult onset v0.0 VAMP1 Bryony Thompson gene: VAMP1 was added
gene: VAMP1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: VAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: VAMP1 were set to Autosomal dominant spastic ataxia 1, 108600; Spastic ataxia 1, autosomal dominant, 108600
Ataxia - adult onset v0.0 TTPA Bryony Thompson gene: TTPA was added
gene: TTPA was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
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; Ataxia with Vitamin E Deficiency; Ataxia with isolated vitamin E deficiency, 277460
Ataxia - adult onset v0.0 TTBK2 Bryony Thompson gene: TTBK2 was added
gene: TTBK2 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TTBK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TTBK2 were set to Spinocerebellar ataxia 11, 604432; Spinocerebellar ataxia 11
Ataxia - adult onset v0.0 TMEM240 Bryony Thompson gene: TMEM240 was added
gene: TMEM240 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TMEM240 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TMEM240 were set to Spinocerebellar ataxia 21, 607454
Ataxia - adult onset v0.0 TDP1 Bryony Thompson gene: TDP1 was added
gene: TDP1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDP1 were set to 31182267
Phenotypes for gene: TDP1 were set to Autosomal recessive spinocerebellar ataxia with axonal neuropathy, 607250; Spinocerebellar ataxia, autosomal recessive with axonal neuropathy
Ataxia - adult onset v0.0 SYNE1 Bryony Thompson gene: SYNE1 was added
gene: SYNE1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SYNE1 were set to Spinocerebellar ataxia, autosomal recessive 8; Cerebellar Ataxia; Autosomal recessive spinocerebellar ataxia type 8
Ataxia - adult onset v0.0 STUB1 Bryony Thompson gene: STUB1 was added
gene: STUB1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: STUB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STUB1 were set to Autosomal recessive spinocerebellar ataxia type 16, 615768; Spinocerebellar ataxia, autosomal recessive 16
Ataxia - adult onset v0.0 SPTBN2 Bryony Thompson gene: SPTBN2 was added
gene: SPTBN2 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SPTBN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SPTBN2 were set to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; Spinocerebellar ataxia 5; Spinocerebellar ataxia 5, 600224; SPINOCEREBELLAR ATAXIA 5 (autosomal dominant); Spinocerebellar ataxia, autosomal recessive 14; Spinocerebellar Ataxia, Dominant; Autosomal recessive spinocerebellar ataxia 14, 615386
Ataxia - adult onset v0.0 SPG7 Bryony Thompson gene: SPG7 was added
gene: SPG7 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPG7 were set to Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia; Autosomal recessive spastic paraplegia 7, 607259
Ataxia - adult onset v0.0 SETX Bryony Thompson gene: SETX was added
gene: SETX was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SETX were set to Autosomal recessive spinocerebellar ataxia type 1, 606002; ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia; Ataxia-ocular apraxia-2
Ataxia - adult onset v0.0 SAMD9L Bryony Thompson gene: SAMD9L was added
gene: SAMD9L was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SAMD9L were set to Ataxia-pancytopenia syndrome, 159550
Ataxia - adult onset v0.0 SACS Bryony Thompson gene: SACS was added
gene: SACS was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
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; Charlevoix-Saguenay spastic ataxia, 270550
Ataxia - adult onset v0.0 RNF216 Bryony Thompson gene: RNF216 was added
gene: RNF216 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotrophic hypogonadism; Cerebellar ataxia and hypogonadotropic hypogonadism, 212840
Ataxia - adult onset v0.0 RNF170 Bryony Thompson gene: RNF170 was added
gene: RNF170 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RNF170 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RNF170 were set to Ataxia, sensory, 1, autosomal dominant; Autosomal dominant sensory ataxia 1, 608984
Ataxia - adult onset v0.0 PUM1 Bryony Thompson gene: PUM1 was added
gene: PUM1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PUM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PUM1 were set to Spinocerebellar ataxia 47, 617931
Ataxia - adult onset v0.0 PRNP Bryony Thompson gene: PRNP was added
gene: PRNP was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRNP were set to Multiple allelic disorders reported; Huntington disease-like 1; Autosomal Dominant Ataxia; Gerstmann-Straussler disease; Insomnia, fatal familial; Creutzfeldt-Jakob disease
Ataxia - adult onset v0.0 PRKCG Bryony Thompson gene: PRKCG was added
gene: PRKCG was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PRKCG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRKCG were set to Spinocerebellar ataxia 14; Spincocerebellar ataxia 14, 605361
Ataxia - adult onset v0.0 POLG Bryony Thompson gene: POLG was added
gene: POLG was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Mitochondrial recessive ataxia syndrome, 607459; Mitochondrial DNA depletion types 4A, 203700 and 4B, 613662; autosomal recessive progressive external opthalmoplegia, 258450; autosomal dominant progressive external ophthalmoplegia, 157640
Ataxia - adult onset v0.0 PNPLA6 Bryony Thompson gene: PNPLA6 was added
gene: PNPLA6 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA6 were set to Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients; Boucher-Neuhauser syndrome, 215470; Sapstic paraplegia 39, 612020; Oliver-McFarlane syndrome (#603197); Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470); Oliver-McFarlane syndrome, 275400
Ataxia - adult onset v0.0 PDYN Bryony Thompson gene: PDYN was added
gene: PDYN was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PDYN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PDYN were set to Spinocerebellar ataxia 23; Spinocerebellar ataxia 23, 610245
Ataxia - adult onset v0.0 NOP56 Bryony Thompson gene: NOP56 was added
gene: NOP56 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NOP56 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NOP56 were set to Spinocerebellarataxia36,614153
Ataxia - adult onset v0.0 MSTO1 Bryony Thompson gene: MSTO1 was added
gene: MSTO1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MSTO1 were set to Mitochondrial myopathy and ataxia, 617675
Ataxia - adult onset v0.0 KIF1C Bryony Thompson gene: KIF1C was added
gene: KIF1C was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
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; Autosomal recessive spastic ataxia 2, 611302
Ataxia - adult onset v0.0 KCND3 Bryony Thompson gene: KCND3 was added
gene: KCND3 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCND3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCND3 were set to Spinocerebellar ataxia 19, 607346; Spinocerebellarataxia19, 607346
Ataxia - adult onset v0.0 KCNC3 Bryony Thompson gene: KCNC3 was added
gene: KCNC3 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNC3 were set to Spinocerebellar ataxia 13; Spinocerebellar ataxia 13, 605259
Ataxia - adult onset v0.0 ITPR1 Bryony Thompson gene: ITPR1 was added
gene: ITPR1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ITPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ITPR1 were set to Gillespie syndrome, 206700; Spinocerebellar ataxia 29; Spinocerebellar ataxia 29, 117360; Spinocerebellar ataxia 15; Spinocerebellar ataxia 15, 606658
Ataxia - adult onset v0.0 GFAP Bryony Thompson gene: GFAP was added
gene: GFAP was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GFAP were set to Alexander disease, 203450; Autosomal Dominant Ataxia; Alexander disease
Ataxia - adult onset v0.0 GDAP2 Bryony Thompson gene: GDAP2 was added
gene: GDAP2 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GDAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GDAP2 were set to Autosomal recessive spinocerebellar ataxia
Ataxia - adult onset v0.0 FXN Bryony Thompson gene: FXN was added
gene: FXN was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FXN were set to Friedreich ataxia with retained reflexes,229300; Friedreich ataxia, 229300; Friedreichataxia, 229300
Ataxia - adult onset v0.0 FMR1 Bryony Thompson gene: FMR1 was added
gene: FMR1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FMR1 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: FMR1 were set to FragileXtremor/ataxiasyndrome,300623; males with a tremor phenotype; Fragile X tremor/ataxia syndrome; FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI)
Ataxia - adult onset v0.0 FLVCR1 Bryony Thompson gene: FLVCR1 was added
gene: FLVCR1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLVCR1 were set to Posterior column ataxia with retinitis pigmentosa, 609033; Ataxia, posterior column, with retinitis pigmentosa,; Posterior Column Ataxia with Retinitis Pigmentosa
Ataxia - adult onset v0.0 FGF14 Bryony Thompson gene: FGF14 was added
gene: FGF14 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FGF14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGF14 were set to Spinocerebellar ataxia type 27, 609307; Spinocerebellar ataxia 27
Ataxia - adult onset v0.0 ELOVL5 Bryony Thompson gene: ELOVL5 was added
gene: ELOVL5 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ELOVL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ELOVL5 were set to Spinocerebellar ataxia 38, 615957; Spinocerebellar ataxia 36 615957
Ataxia - adult onset v0.0 ELOVL4 Bryony Thompson gene: ELOVL4 was added
gene: ELOVL4 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ELOVL4 were set to Spinocerebellar ataxia 34 133190; Spinocerebellar ataxia 34, 133190
Ataxia - adult onset v0.0 EIF2B5 Bryony Thompson gene: EIF2B5 was added
gene: EIF2B5 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B5 were set to 31438897
Phenotypes for gene: EIF2B5 were set to Leukoencephalopathy with vanishing white matter, 603896; Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Ataxia - adult onset v0.0 EIF2B4 Bryony Thompson gene: EIF2B4 was added
gene: EIF2B4 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B4 were set to 31438897
Phenotypes for gene: EIF2B4 were set to Leukoencephalopathy with vanishing white matter, 603896; Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Ataxia - adult onset v0.0 EIF2B3 Bryony Thompson gene: EIF2B3 was added
gene: EIF2B3 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B3 were set to 31438897
Phenotypes for gene: EIF2B3 were set to Leukoencephalopathy with vanishing white matter, 603896; Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Ataxia - adult onset v0.0 EIF2B2 Bryony Thompson gene: EIF2B2 was added
gene: EIF2B2 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B2 were set to 31438897
Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, 603896; Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Ataxia - adult onset v0.0 EIF2B1 Bryony Thompson gene: EIF2B1 was added
gene: EIF2B1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B1 were set to 31438897
Phenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter, 603896; Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Ataxia - adult onset v0.0 DNMT1 Bryony Thompson gene: DNMT1 was added
gene: DNMT1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DNMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DNMT1 were set to Cerebellar ataxia, deafness and narcolepsy, 604121; Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,; Hereditary sensory neuropathy type IE, 614116
Ataxia - adult onset v0.0 CP Bryony Thompson gene: CP was added
gene: CP was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CP were set to Aceruloplasminemia, 604290; Cerebellar ataxia, 604290; Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Ataxia - adult onset v0.0 COA7 Bryony Thompson gene: COA7 was added
gene: COA7 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COA7 were set to Spinocerebellar ataxia with axonal neuropathy
Ataxia - adult onset v0.0 CLCN2 Bryony Thompson gene: CLCN2 was added
gene: CLCN2 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CLCN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CLCN2 were set to {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; Leukoencephalopathy with ataxia, 615651; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628
Ataxia - adult onset v0.0 CACNA1G Bryony Thompson gene: CACNA1G was added
gene: CACNA1G was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CACNA1G were set to early-onset SCA42 with neurodevelopmental deficits, 618087; Spinocerebellar ataxia 42, 616795
Ataxia - adult onset v0.0 CACNA1A Bryony Thompson gene: CACNA1A was added
gene: CACNA1A was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA1A were set to Spinocerebellar ataxia 6; familial hemiplegic migraine type 1, 141500; Familial hemiplegic migraine 1, 141500; SCA6, 183086; episodic ataxia type 2 (EA2),108500; Episodic ataxia type 2, 108500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia; Episodic ataxia, type 2
Ataxia - adult onset v0.0 ATP1A3 Bryony Thompson gene: ATP1A3 was added
gene: ATP1A3 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATP1A3 were set to CAPOS syndrome, 601338; Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338); Dystonia-12, 128235; Alternating hemiplegia of childhood 2, 614820; DYSTONIA 12, 128235; ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820; Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235)
Ataxia - adult onset v0.0 ATM Bryony Thompson gene: ATM was added
gene: ATM was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Ataxia-telangiectasia, 607585; Ataxia-Telangiectasia
Ataxia - adult onset v0.0 ANO10 Bryony Thompson gene: ANO10 was added
gene: ANO10 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANO10 were set to Spinocerebellar ataxia autosomal recessive type 10, 613728; Spinocerebellar ataxia, autosomal recessive 10
Ataxia - adult onset v0.0 AFG3L2 Bryony Thompson gene: AFG3L2 was added
gene: AFG3L2 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: AFG3L2 were set to Ataxia, spastic, 5, autosomal recessive; spastic ataxia 5, 614487; Spinocerebellar ataxia 28; Spinocerebellar ataxia 28, 610246; Spinocerebellar Ataxia, Dominant
Ataxia - adult onset v0.0 ABHD12 Bryony Thompson gene: ABHD12 was added
gene: ABHD12 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
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 (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract, 612674; Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Ataxia - adult onset v0.0 Bryony Thompson Added panel Ataxia - adult onset_RMH