BRIDGE_SPEED_NEURO_v2.0_20160416
Gene: PIGO

PIGO (phosphatidylinositol glycan anchor biosynthesis class O)
EnsemblGeneIds (GRCh38): ENSG00000165282
EnsemblGeneIds (GRCh37): ENSG00000165282
OMIM: 614730, Gene2Phenotype
PIGO is in 8 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; gilissen_2014_candidate; Nijmegen_ID_diagnostic; Nijmegen_ID_candidates; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function
Created: 7 Feb 2017, 4:45 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperphosphatasia with mental retardation syndrome 2, 614749

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Feb 2017, 4:45 p.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

BRIDGE

Phenotypes

Hyperphosphatasia with mental retardation syndrome 2, 614749

OMIM

614730

Clinvar variants

Variants in PIGO

Penetrance

Complete

Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PIGO was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source