Cerebellar and Pontocerebellar Hypoplasia

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

Elena Savva (Victorian Clinical Genetics Services)

Cerebellar ataxia listed in OMIM

PMID: 31693170, VCGS publication - 1 child with homozygous PTC and progressive cerebellar atrophy, poor oromotor coordination, marked cerebellar dysarthria. Paper reviews other findings for this gene (very few) and notes MRI findings of one additional patient with cerebellar hypoplasia, and another with cerebellar volume loss. Another patient is reported with cerebellar ataxia but had no MRI (PMID: 19461874).

PMID: 23087022 - zebrafish mutant models demonstrate increased neuronal cell death in the cerebellum, lost cerebellar volume
Sources: Expert Review
Created: 15 Apr 2020, 5:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • 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

15 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).

15 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).

15 Apr 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: CA8 was added gene: CA8 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review Mode of inheritance for gene: CA8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CA8 were set to PMID: 31693170; 19461874; 23087022 Phenotypes for gene: CA8 were set to Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 613227