Genomics England
GMS Panels
Panels
Genes and Entities

CAMTA1

calmodulin binding transcription activator 1
OMIM: 611501
PanelMode of inheritanceDetails
3 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
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
Green
in Hereditary ataxia - adult onset
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
Green
in Intellectual disability
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