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DDG2P

Gene: CA8

Green List (high evidence)

CA8 (carbonic anhydrase 8)
EnsemblGeneIds (GRCh38): ENSG00000178538
EnsemblGeneIds (GRCh37): ENSG00000178538
OMIM: 114815, Gene2Phenotype
CA8 is in 10 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed.
Created: 19 Nov 2018, 11:29 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3 613227
OMIM
114815
Clinvar variants
Variants in CA8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: CA8 was added gene: CA8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CA8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CA8 were set to 19461874; 21937992 Phenotypes for gene: CA8 were set to CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3 613227