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  2. Hereditary ataxia with onset in adulthood
  3. CA8
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Hereditary ataxia with onset in adulthood

Gene: CA8

Green List (high evidence)
CA8 (carbonic anhydrase 8)
EnsemblGeneIds (GRCh38): ENSG00000178538
EnsemblGeneIds (GRCh37): ENSG00000178538
OMIM: 114815, Gene2Phenotype
CA8 is in 9 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.
Created: 15 Apr 2019, 10:21 a.m.

Panel version: 1.8

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Two good families in lit (plus third singleton), functional evidence for the Ser100Pro variant
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Hereditary ataxia v1.148
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
Panels with this gene

History Filter Activity

15 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 for gene: CA8

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CA8.

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to CA8.

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked panel against panel constituents. Ready to promote to version 1.

15 Dec 2018, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: CA8 was added gene: CA8 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,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