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  3. CAMTA1
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Cerebral Palsy

Gene: CAMTA1

Green List (high evidence)
CAMTA1 (calmodulin binding transcription activator 1)
EnsemblGeneIds (GRCh38): ENSG00000171735
EnsemblGeneIds (GRCh37): ENSG00000171735
OMIM: 611501, Gene2Phenotype
CAMTA1 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Combination of ID with ataxia overlaps with CP. At least 3 families reported, intragenic deletions.
Sources: Expert list
Created: 18 Sep 2021, 6:58 a.m. | Last Modified: 18 Sep 2021, 6:59 a.m.
Panel Version: 0.99

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cerebellar ataxia, nonprogressive, with mental retardation, MIM# 614756

Publications

Created: 18 Sep 2021, 6:58 a.m.
Last Modified: 18 Sep 2021, 6:59 a.m.
Panel version: 0.98

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cerebellar ataxia, nonprogressive, with mental retardation, MIM# 614756
Tags
SV/CNV
OMIM
611501
Clinvar variants
Variants in CAMTA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: camta1 has been classified as Green List (High Evidence).

18 Sep 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: CAMTA1.

18 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: camta1 has been classified as Green List (High Evidence).

18 Sep 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CAMTA1 was added gene: CAMTA1 was added to Cerebral Palsy. Sources: Expert list Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CAMTA1 were set to 22693284; 24738973 Phenotypes for gene: CAMTA1 were set to Cerebellar ataxia, nonprogressive, with mental retardation, MIM# 614756 Review for gene: CAMTA1 was set to GREEN