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  3. PIGT
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BRIDGE_SPEED_NEURO_20170705

Gene: PIGT

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

2 reviews

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_201507;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_omim_20150205_epilepsies . Main mutation mechanism : NA
Created: 28 Jul 2017, 10:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 2 Aug 2017, 6 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 1:54 p.m.
Created: 31 Jul 2017, 1:54 p.m.

Panel version: 0.122

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • ?Paroxysmal nocturnal hemoglobinuria 2, 615399
  • ?Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398
OMIM
610272
Clinvar variants
Variants in PIGT
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PIGT were set to ?Paroxysmal nocturnal hemoglobinuria 2, 615399; ?Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

PIGT was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

PIGT was created by LouiseD