BRIDGE_SPEED_NEURO_v2.0_20160416
Gene: GLDC

GLDC (glycine decarboxylase)
EnsemblGeneIds (GRCh38): ENSG00000178445
EnsemblGeneIds (GRCh37): ENSG00000178445
OMIM: 238300, Gene2Phenotype
GLDC is in 7 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; gilissen_2014_known; UKGTN_v12; Nijmegen_ID_diagnostic; Nijmegen_ID_candidates; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function
Created: 7 Feb 2017, 4:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycine encephalopathy, 605899

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

Created: 7 Feb 2017, 4:27 p.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

BRIDGE

Phenotypes

Glycine encephalopathy, 605899

OMIM

238300

Clinvar variants

Variants in GLDC

Penetrance

Complete

Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GLDC was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source