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Prepair 1000+

Gene: GLDC

Green List (high evidence)

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

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Glycine encephalopathy, also known as nonketotic hyperglycinemia is a condition is characterized by early-onset neonatal hypotonia, progressive lethargy, poor feeding, seizures, developmental delays, hyperactivity with or without choreatic movements (PMID 36817643). Majority of patients present in neonatal period/early infancy (PMID: 34513771)

3 forms have been reported (OMIM):
Classic Neonatal Form
Atypical Mild Form
Transient Neonatal Hyperglycinemia - elevated plasma and CSF glycine levels at birth that are normalized within 2 to 8 weeks
Created: 19 Nov 2024, 5:13 a.m. | Last Modified: 19 Nov 2024, 5:13 a.m.
Panel Version: 1.553

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycine encephalopathy1 (MIM#605899)

Publications

History Filter Activity

28 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: gldc has been classified as Green List (High Evidence).

28 Nov 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: GLDC were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Glycine encephalopathy, 605899 (3) for gene: GLDC

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLDC were set to Glycine encephalopathy, 605899 (3)