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Ataxia - paediatric

Gene: CA8

Green List (high evidence)

CA8 (carbonic anhydrase 8)
EnsemblGeneIds (GRCh38): ENSG00000178538
EnsemblGeneIds (GRCh37): ENSG00000178538
OMIM: 114815, Gene2Phenotype
CA8 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least two unrelated families reported, and animal model.
Sources: Expert list
Created: 25 Nov 2019, 6:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, MIM#613227

Publications

Details

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

History Filter Activity

17 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ca8 has been classified as Green List (High Evidence).

17 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CA8 were set to

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CA8 was added gene: CA8 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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; Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227