Cerebellar and Pontocerebellar Hypoplasia
Gene: GPAA1

GPAA1 (glycosylphosphatidylinositol anchor attachment 1)
EnsemblGeneIds (GRCh38): ENSG00000197858
EnsemblGeneIds (GRCh37): ENSG00000197858
OMIM: 603048, Gene2Phenotype
GPAA1 is in 10 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 29100095 - reports 4/5 families (9/10 individuals) with cerebellar atrophy, all aged <11 years old except for one family. No obvious genotype-phenotype correlation btw atrophy patients and non-atrophy. One family shows subsequent MRIs and clearly atrophy rather than hypoplasia

PMID: 31353022 - paper focuses on patients with PIGU mutations, but in summary table compares phenotypic features with previously published GPAA1 patients. Paper reports 9/10 had cerebellar hypoplasia, then cites ^.
Created: 29 Apr 2020, 1:26 a.m. | Last Modified: 29 Apr 2020, 1:26 a.m.

Panel Version: 0.113

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycosylphosphatidylinositol biosynthesis defect 15 617810

Publications

PMID: 29100095
31353022

Created: 29 Apr 2020, 1:26 a.m.
Last Modified: 29 Apr 2020, 1:26 a.m.
Panel version: 0.113

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810

OMIM

603048

Clinvar variants

Variants in GPAA1

Penetrance

None

Publications

Panels with this gene