Ataxia - paediatric
Gene: CAMTA1EnsemblGeneIds (GRCh38): ENSG00000171735
EnsemblGeneIds (GRCh37): ENSG00000171735
OMIM: 611501, Gene2Phenotype
CAMTA1 is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Evidence predominantly from copy number variants. Recent report of four individuals with de novo variants in this gene (nonsense, frameshift, missense), phenotype predominantly ataxia with borderline DD/ID.Created: 14 Mar 2020, 3:43 a.m. | Last Modified: 14 Mar 2020, 3:43 a.m.
Panel Version: 0.46
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Victorian Clinical Genetics Services
- Phenotypes
-
- Cerebellarataxia, nonprogressive, with mental retardation, 614756
- Cerebellar ataxia with mental retardation, 614756
- OMIM
- 611501
- Clinvar variants
- Variants in CAMTA1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: camta1 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CAMTA1 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CAMTA1 was added gene: CAMTA1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CAMTA1 were set to Cerebellarataxia, nonprogressive, with mental retardation, 614756; Cerebellar ataxia with mental retardation, 614756