Ataxia - paediatric
Gene: ATP2B3
Comment on list classification: 2 apparently unrelated families with the same variant and functional assessment of this variantCreated: 28 Dec 2019, 3:26 a.m. | Last Modified: 28 Dec 2019, 3:26 a.m.
Panel Version: 0.38
Sources: Expert listCreated: 28 Dec 2019, 3:20 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Spinocerebellar ataxia, X-linked 1, MIM#302500
Publications
2 apparently unrelated families with the same variant and functional assessment of this variantCreated: 27 Dec 2019, 4:26 a.m. | Last Modified: 27 Dec 2019, 4:26 a.m.
Panel Version: 0.5
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications
Gene: atp2b3 has been classified as Amber List (Moderate Evidence).
Gene: atp2b3 has been classified as Amber List (Moderate Evidence).
gene: ATP2B3 was added gene: ATP2B3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital Mode of inheritance for gene: ATP2B3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: ATP2B3 were set to Spinocerebellar ataxia, X-linked 1