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Genetic Epilepsy

Gene: CAMTA1

Red List (low evidence)

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

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 31957018 sequencing in an epilepsy cohort - if negative looked at 'candidate epilepy genes', variant identified in CAMTA1 in patient with infantile spasms, refractory epilepsy, dev delay and corticovisual impairment.
Sources: Expert list
Created: 22 Dec 2023, 2:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cerebellar dysfunction with variable cognitive and behavioral abnormalities MIM#614756

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Cerebellar dysfunction with variable cognitive and behavioral abnormalities MIM#614756
OMIM
611501
Clinvar variants
Variants in CAMTA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Dec 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: camta1 has been classified as Red List (Low Evidence).

27 Dec 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: camta1 has been classified as Red List (Low Evidence).

22 Dec 2023, Gel status: 0

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

Lilian Downie (Victorian Clinical Genetics Services)

gene: CAMTA1 was added gene: CAMTA1 was added to Genetic Epilepsy. 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 PMID: 31957018 Phenotypes for gene: CAMTA1 were set to Cerebellar dysfunction with variable cognitive and behavioral abnormalities MIM#614756 Review for gene: CAMTA1 was set to RED