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 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cerebellarataxia, nonprogressive, with mental retardation, 614756
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cerebellar ataxia with mental retardation, 614756, Cerebellarataxia, nonprogressive, with mental retardation, 614756
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION