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Vascular Malformations_Germline

Gene: GPAA1

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A single family identified with a GPAA1 missense (c.968A > G; p.Asn323Ser) segregating in 4 affected individuals and not among 6 unaffected individuals. Also, supporting in vitro functional assays for the variant impacting function and a gpaa1-deficient zebrafish model displaying several types of developmental defects as well as vascular dysplasia.
Sources: Literature
Created: 22 Jul 2021, 4:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Vascular anomalies

Publications

Created: 22 Jul 2021, 4:23 a.m.

Panel version: 1.2

History Filter Activity

22 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gpaa1 has been classified as Amber List (Moderate Evidence).

22 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gpaa1 has been classified as Amber List (Moderate Evidence).

22 Jul 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GPAA1 was added gene: GPAA1 was added to Vascular Malformations_Germline. Sources: Literature Mode of inheritance for gene: GPAA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GPAA1 were set to 32533362 Phenotypes for gene: GPAA1 were set to Vascular anomalies Review for gene: GPAA1 was set to AMBER