Cerebellar and Pontocerebellar Hypoplasia
Gene: GPAA1
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
Gene: gpaa1 has been classified as Green List (High Evidence).
Phenotypes for gene: GPAA1 were changed from to Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810
Publications for gene: GPAA1 were set to
Mode of inheritance for gene: GPAA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: GPAA1 was added gene: GPAA1 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GPAA1 was set to Unknown