Hereditary ataxia

Gene: CAMTA1

Green List (high evidence)

CAMTA1 (calmodulin binding transcription activator 1)
EnsemblGeneIds (GRCh38): ENSG00000171735
EnsemblGeneIds (GRCh37): ENSG00000171735
OMIM: 611501, Gene2Phenotype
CAMTA1 is in 8 panels

2 reviews

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence from expert and OMIM
Created: 4 Feb 2016, 2:43 p.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Not a gene I'm familiar with - would rely on good CNV detection. Mode of pathogenicity: loss-of-function.
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cerebellarataxia,nonprogressive,withmentalretardation,614756 3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cerebellarataxia, nonprogressive, with mental retardation, 614756
OMIM
611501
Clinvar variants
Variants in CAMTA1
Penetrance
Complete
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CAMTA1 were changed from Cerebellarataxia, nonprogressive, with mentalretardation, 614756 to Cerebellarataxia, nonprogressive, with mental retardation, 614756

9 Jan 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CAMTA1 were changed from Cerebellarataxia,nonprogressive,withmentalretardation,614756 3 to Cerebellarataxia, nonprogressive, with mentalretardation, 614756

24 Aug 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CAMTA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CAMTA1 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen