1. Panels
  2. Fetal anomalies
  3. CAMTA1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

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.

Congenital anomalies are not a feature, clinical presentation is typically post-natal.
Created: 14 Mar 2020, 3:38 a.m. | Last Modified: 9 Dec 2021, 8:09 a.m.
Panel Version: 0.1156

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD)

Publications

Created: 14 Mar 2020, 3:38 a.m.
Last Modified: 9 Dec 2021, 8:09 a.m.
Panel version: 0.1156

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD)

Created: 31 Jan 2020, 3:34 a.m.
Last Modified: 31 Jan 2020, 3:34 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.1805

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD)
OMIM
611501
Clinvar variants
Variants in CAMTA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Dec 2021, 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).

9 Dec 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CAMTA1 were changed from CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION to Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD)

9 Dec 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CAMTA1 were set to

9 Dec 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CAMTA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

9 Dec 2021, 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).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CAMTA1 was added gene: CAMTA1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CAMTA1 were set to CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION