Retinitis pigmentosa_Autosomal Dominant
Gene: CA4EnsemblGeneIds (GRCh38): ENSG00000167434
EnsemblGeneIds (GRCh37): ENSG00000167434
OMIM: 114760, Gene2Phenotype
CA4 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
PMID 15090652: 24 affected individuals from two SA families reported with p.Arg14Trp variant. Another Caucasian family reported in PMID 15563508. This variant is present in 61 hets in gnomad.
PMID 15563508 reported another family with p.Arg219Ser. This variant is present in 4 hets in gnomad.
PMID 17652713: an individual reported with p.Arg69His. This variant is present in 11 hets in gnomad.
Mouse model does not have an eye phenotype.
In the absence of other supporting data, the relatively high frequency of the reported variants raises significant concerns about the validity of this gene-disease relationship.Created: 10 Oct 2020, 6:37 a.m. | Last Modified: 10 Oct 2020, 6:40 a.m.
Panel Version: 0.14
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Retinitis pigmentosa 17, MIM# 600852
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Royal Melbourne Hospital
- Phenotypes
-
- Retinitis pigmentosa 17, 600852
- Tags
- OMIM
- 114760
- Clinvar variants
- Variants in CA4
- 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: ca4 has been classified as Red List (Low Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CA4 were set to
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag disputed tag was added to gene: CA4.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ca4 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CA4 was added gene: CA4 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CA4 were set to Retinitis pigmentosa 17, 600852