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DDG2P

Gene: PIGM

Red List (low evidence)
PIGM (phosphatidylinositol glycan anchor biosynthesis class M)
EnsemblGeneIds (GRCh38): ENSG00000143315
EnsemblGeneIds (GRCh37): ENSG00000143315
OMIM: 610273, Gene2Phenotype
PIGM is in 7 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for PIGM-related glycosylphosphatidylinositol deficiency are limited, biallelic_autosomal and undetermined (PMID:16767100). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02424.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease Glycosylphosphatidylinositol deficiency, OMIM:610293 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and cis-regulatory or promotor mutation (PMID:16767100).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MONDO:0012465; OMIM:610293.0; PIGM-related glycosylphosphatidylinositol deficiency; Glycosylphosphatidylinositol deficiency, OMIM:610293

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible. DDG2P mode of pathogenicity: cis-regulatory or promotor mutation
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • Glycosylphosphatidylinositol deficiency
OMIM
610273
Clinvar variants
Variants in PIGM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: PIGM was changed from Other to None

4 Oct 2023, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene PIGM was changed from Other - please provide details in the comments to Other

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: PIGM was added gene: PIGM was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PIGM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGM were set to 16767100 Phenotypes for gene: PIGM were set to Glycosylphosphatidylinositol deficiency Mode of pathogenicity for gene: PIGM was set to Other - please provide details in the comments