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Fetal anomalies

Gene: GLDC

Amber List (moderate evidence)

GLDC (glycine decarboxylase)
EnsemblGeneIds (GRCh38): ENSG00000178445
EnsemblGeneIds (GRCh37): ENSG00000178445
OMIM: 238300, Gene2Phenotype
GLDC is in 12 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

Well established gene association and classified as a metabolic disorder.

Death in infancy common for patients with the classic neonatal form

Features of interest for this panel (OMIM):
Burst suppression pattern on neonatal EEG
Absent corpus callosum (variable)
Created: 6 Dec 2021, 12:27 a.m. | Last Modified: 6 Dec 2021, 12:27 a.m.
Panel Version: 0.957

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycine encephalopathy (MIM#605899)

Publications

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

Details

History Filter Activity

6 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gldc has been classified as Amber List (Moderate Evidence).

6 Dec 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GLDC were changed from GLDC-RELATED GLYCINE ENCEPHALOPATHY to Glycine encephalopathy (MIM#605899)

6 Dec 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GLDC were set to

6 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gldc has been classified as Amber List (Moderate Evidence).

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GLDC was added gene: GLDC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLDC were set to GLDC-RELATED GLYCINE ENCEPHALOPATHY