BRIDGE_SPEED_NEURO_20170705
Gene: PIGN

PIGN (phosphatidylinositol glycan anchor biosynthesis class N)
EnsemblGeneIds (GRCh38): ENSG00000197563
EnsemblGeneIds (GRCh37): ENSG00000197563
OMIM: 606097, Gene2Phenotype
PIGN is in 9 panels

1 review

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_omim_20150205_epilepsies . Main mutation mechanism : All missense/in frame
Created: 28 Jul 2017, 10:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

25529582
omim.org

Mode of pathogenicity
Other

Created: 2 Aug 2017, 5:59 p.m.

Panel version: 0.191

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080

OMIM

606097

Clinvar variants

Variants in PIGN

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

PIGN was created by LouiseD

27 Jul 2017, Gel status: 4

Added New Source