Cerebellar and Pontocerebellar Hypoplasia
Gene: CA8EnsemblGeneIds (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 ReviewCreated: 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ca8 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ca8 has been classified as Green List (High Evidence).
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