Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: PIGF

Red List (low evidence)

PIGF (phosphatidylinositol glycan anchor biosynthesis class F)
EnsemblGeneIds (GRCh38): ENSG00000151665
EnsemblGeneIds (GRCh37): ENSG00000151665
OMIM: 600153, Gene2Phenotype
PIGF is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. Rating Red as 2 families with the same (likely founder) variant reported at present (PMID: 33386993). Phenotypes did include severe ID or DD, respectively - but additional cases with other variants in the PIGF gene required to substantiate causation (added founder-effect tag)
Created: 9 Feb 2021, 5:26 p.m. | Last Modified: 9 Feb 2021, 5:27 p.m.
Panel Version: 3.773

Zornitza Stark (Australian Genomics)

Red List (low evidence)

The same homozygous missense variant identified in 2 individuals from different families from the same region of India. Individuals had a phenotype similar to DOORS syndrome without deafness. Impaired glycosylphosphatidylinositol (GPI) biosynthesis was demonstrated.

Rated Red as the two families are likely to be related (founder mutation?).
Sources: Literature
Created: 7 Feb 2021, 3:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycosylphosphatidylinositol deficiency, onychodystrophy, osteodystrophy, intellectual disability, and seizures

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Glycosylphosphatidylinositol deficiency, onychodystrophy, osteodystrophy, intellectual disability, and seizures
Tags
founder-effect
OMIM
600153
Clinvar variants
Variants in PIGF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Feb 2021, Gel status: 1

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag founder-effect tag was added to gene: PIGF.

9 Feb 2021, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: pigf has been classified as Red List (Low Evidence).

7 Feb 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: PIGF was added gene: PIGF was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: PIGF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGF were set to 33386993 Phenotypes for gene: PIGF were set to Glycosylphosphatidylinositol deficiency, onychodystrophy, osteodystrophy, intellectual disability, and seizures Review for gene: PIGF was set to RED