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  3. CA8
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Cerebellar hypoplasia

Gene: CA8

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

1 review

Alice Gardham (Genomics England)

Only small numbers reported with CAMRQ. ?No MRI imaging so not known if associated with cerebellar hypoplasia as with other types of CAMRQ
Created: 16 Nov 2016, 10:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 16 Nov 2016, 10:27 a.m.

Panel version: 0.95

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 613227
OMIM
114815
Clinvar variants
Variants in CA8
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 2

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22/02/2017: Panel revised after internal clinical review and further curation.

16 Nov 2016, Gel status: 2

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Amber List (Moderate Evidence).

16 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

CA8 was created by agardham

16 Nov 2016, Gel status: 1

Added New Source

Alice Gardham (Genomics England)

CA8 was added to Cerebellar hypoplasiapanel. Sources: Radboud University Medical Center, Nijmegen,Literature