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Fetal anomalies

Gene: GPAA1

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Natalie Canham (Liverpool Women's Hospital)

Red List (low evidence)

9 cases across three papers (PMID 39152716; 37510348; 34703884). Plus 10 cases in PMID 29100095. However, well documented that initially normal cerebellar appearance becomes atrophied. As such, no prenatal presentation.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycosylphosphatidylinositol biosynthesis defect 15, MIM#617810

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 15, OMIM:617810
OMIM
603048
Clinvar variants
Variants in GPAA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: GPAA1 were changed from Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia; Glycosylphosphatidylinositol biosynthesis defect 15, OMIM:617810 to Glycosylphosphatidylinositol biosynthesis defect 15, OMIM:617810

20 Feb 2025, Gel status: 1

Added New Source, Added New Source, Set Phenotypes, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to GPAA1. Source Expert Review Red was added to GPAA1. Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, OMIM:617810 for gene: GPAA1 Publications for gene: GPAA1 were updated from to 37510348; 34703884; 29100095; 39152716 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: GPAA1 was added gene: GPAA1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPAA1 were set to Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia