CAMTA1

calmodulin binding transcription activator 1
OMIM: 611501
PanelMode of inheritanceDetails
3 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cerebellarataxia, nonprogressive, with mental retardation, 614756
R-numbers: R54
Signed-off version 2.13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cerebellar ataxia with mental retardation, 614756, Cerebellarataxia, nonprogressive, with mental retardation, 614756
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION