Ataxia - paediatric
Gene: CTBP1
Paediatric onset of ataxia and >3 cases reported.
Sources: Expert listCreated: 17 Apr 2020, 2:21 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, MIM#617915
Publications
At least 12 unrelated individuals reported with this neurodevelopmental disorder.
Sources: Expert listCreated: 27 Jan 2020, 6:16 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, MIM#617915
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: ctbp1 has been classified as Green List (High Evidence).
Gene: ctbp1 has been classified as Green List (High Evidence).
gene: CTBP1 was added gene: CTBP1 was added to Ataxia - paediatric. Sources: Expert list Mode of inheritance for gene: CTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CTBP1 were set to 27094857; 28955726; 31041561 Phenotypes for gene: CTBP1 were set to Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, MIM#617915 Review for gene: CTBP1 was set to GREEN