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Hereditary ataxia with onset in adulthood v4.34 ATP2B3 Achchuthan Shanmugasundram changed review comment from: There are six unrelated cases reported with X-linked recessive variants in ATP2B3 gene and with a phenotype comprising ataxia. However, the onset of the disease was during childhood inn three of these cases, while detailed clinical information was not available for the other three cases.; to: There are six unrelated cases reported with X-linked recessive variants in ATP2B3 gene and with a phenotype comprising ataxia. However, the onset of the disease was during childhood in three of these cases, while detailed clinical information was not available for the other three cases.
Hereditary ataxia with onset in adulthood v4.34 ATP2B3 Achchuthan Shanmugasundram Phenotypes for gene: ATP2B3 were changed from Spinocerebellar ataxia, X-linked 1; X-linked spinocerebellar ataxia, 302500 to ?Spinocerebellar ataxia, X-linked 1, OMIM:302500
Hereditary ataxia with onset in adulthood v4.33 ATP2B3 Achchuthan Shanmugasundram Publications for gene: ATP2B3 were set to
Hereditary ataxia with onset in adulthood v4.32 ATP2B3 Achchuthan Shanmugasundram Mode of inheritance for gene: ATP2B3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary ataxia with onset in adulthood v4.31 ATP2B3 Achchuthan Shanmugasundram commented on gene: ATP2B3: There are six unrelated cases reported with X-linked recessive variants in ATP2B3 gene and with a phenotype comprising ataxia. However, the onset of the disease was during childhood inn three of these cases, while detailed clinical information was not available for the other three cases.
Hereditary ataxia with onset in adulthood v4.31 ATP2B3 Achchuthan Shanmugasundram edited their review of gene: ATP2B3: Changed phenotypes to: ?Spinocerebellar ataxia, X-linked 1, OMIM:302500
Hereditary ataxia with onset in adulthood v4.31 ATP2B3 Achchuthan Shanmugasundram reviewed gene: ATP2B3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25953895, 28807751, 36207321; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary ataxia with onset in adulthood v3.5 ATP2B3 Dmitrijs Rots reviewed gene: ATP2B3: Rating: ; Mode of pathogenicity: None; Publications: 36207321, 28807751, 25953895; Phenotypes: Ataxia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary ataxia with onset in adulthood v1.42 ATP2B3 Louise Daugherty Classified gene: ATP2B3 as Amber List (moderate evidence)
Hereditary ataxia with onset in adulthood v1.42 ATP2B3 Louise Daugherty Gene: atp2b3 has been classified as Amber List (Moderate Evidence).
Hereditary ataxia with onset in adulthood v1.41 ATP2B3 Louise Daugherty Classified gene: ATP2B3 as Amber List (moderate evidence)
Hereditary ataxia with onset in adulthood v1.41 ATP2B3 Louise Daugherty Gene: atp2b3 has been classified as Amber List (Moderate Evidence).
Hereditary ataxia with onset in adulthood v1.14 ATP2B3 Louise Daugherty commented on gene: ATP2B3: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Hereditary ataxia with onset in adulthood v1.13 ATP2B3 Louise Daugherty Source London North GMS was added to ATP2B3.
Hereditary ataxia with onset in adulthood v1.11 ATP2B3 James Polke reviewed gene: ATP2B3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.9 ATP2B3 Louise Daugherty Added phenotypes X-linked spinocerebellar ataxia, 302500 for gene: ATP2B3
Hereditary ataxia with onset in adulthood v1.8 ATP2B3 Louise Daugherty reviewed gene: ATP2B3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.7 ATP2B3 Tracy Lester reviewed gene: ATP2B3: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: X-linked spinocerebellar ataxia, 302500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary ataxia with onset in adulthood v1.2 ATP2B3 Louise Daugherty Source NHS GMS was added to ATP2B3.
Hereditary ataxia with onset in adulthood v1.1 ATP2B3 Louise Daugherty Source Wessex and West Midlands GLH was added to ATP2B3.
Hereditary ataxia with onset in adulthood v0.2 ATP2B3 Eleanor Williams gene: ATP2B3 was added
gene: ATP2B3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: ATP2B3 was set to Unknown
Phenotypes for gene: ATP2B3 were set to Spinocerebellar ataxia, X-linked 1