Intellectual disability update Jan 2018
Gene: GPAA1

GPAA1 (glycosylphosphatidylinositol anchor attachment 1)
EnsemblGeneIds (GRCh38): ENSG00000197858
EnsemblGeneIds (GRCh37): ENSG00000197858
OMIM: 603048, Gene2Phenotype
GPAA1 is in 9 panels

2 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Sufficient cases, phenotype appropriate for this panel.
Created: 6 Mar 2018, 4:54 p.m.

Created: 6 Mar 2018, 4:54 p.m.

Panel version: 0.367

Sarah Leigh (Genomics England Curator)

Associated with phenotype in OMIM. At least 7 variants reported in 10 patients from 5 unrelated families with Glycosylphosphatidylinositol biosynthesis defect 15 (617810). The patients ranged in age from 3.8 to 30 years. All had mild to moderate intellectual disability, together with other features of developmental delay.
Reported as an ID candidate gene (Gilessen 2014, PMID 24896178)
Created: 5 Mar 2018, 3:49 p.m.

Created: 5 Mar 2018, 3:49 p.m.

Panel version: 0.331

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Other

Phenotypes

Glycosylphosphatidylinositol biosynthesis defect 15 617810

OMIM

603048

Clinvar variants

Variants in GPAA1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

6 Mar 2018, Gel status: 3

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Mar 2018, Gel status: 3