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  3. PIGT
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Cytopenias and congenital anaemias

Gene: PIGT

Red List (low evidence)
PIGT (phosphatidylinositol glycan anchor biosynthesis class T)
EnsemblGeneIds (GRCh38): ENSG00000124155
EnsemblGeneIds (GRCh37): ENSG00000124155
OMIM: 610272, Gene2Phenotype
PIGT is in 10 panels

1 review

Arianna Tucci (Genomics England Curator)

Red List (low evidence)

Only one case described and moreover a somatic mutation in addition to the germline mutation appears to be necessary for development of the phenotype
Created: 9 Mar 2017, 4:31 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Paroxysmal nocturnal hemoglobinuria 2 615399

Publications

Created: 9 Mar 2017, 4:31 p.m.

Panel version: 0.522

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398
  • ?Paroxysmal nocturnal hemoglobinuria 2, 615399
Tags
somatic
OMIM
610272
Clinvar variants
Variants in PIGT
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

24 Jun 2019, Gel status: 1

Removed Tag, Added Tag

Louise Daugherty (Genomics England Curator)

Tag somatic-germline was removed from gene: PIGT. Tag somatic tag was added to gene: PIGT.

24 Jun 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: PIGT were set to

11 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

9 Mar 2017, Gel status: 1

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

PIGT was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red Model of inheritance for gene PIGT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

PIGT was created by LouiseD

17 Feb 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

PIGT was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen