BRIDGE_SPEED_NEURO_20170705
Gene: PGAP1

PGAP1 (post-GPI attachment to proteins 1)
EnsemblGeneIds (GRCh38): ENSG00000197121
EnsemblGeneIds (GRCh37): ENSG00000197121
OMIM: 611655, Gene2Phenotype
PGAP1 is in 7 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_movement_disorder_list . Main mutation mechanism : NA
Created: 28 Jul 2017, 10:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Personal communication with NIHRBRRD BRIDGE SPEED

Created: 2 Aug 2017, 5:55 p.m.

Panel version: 0.191

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

BRIDGE study SPEED NEURO Tier1 Gene
Expert Review Green

Phenotypes

?Mental retardation, autosomal recessive 42, 615802

OMIM

611655

Clinvar variants

Variants in PGAP1

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

PGAP1 was created by LouiseD

27 Jul 2017, Gel status: 4

Added New Source