Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: CA8

Green List (high evidence)

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

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 613227
  • Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3
OMIM
114815
Clinvar variants
Variants in CA8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

19 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 613227 for gene: CA8 Publications for gene CA8 were changed from to 21885617

19 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: CA8 was added gene: CA8 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: CA8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CA8 were set to Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3