Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

BabyScreen+ newborn screening

Gene: GLDC

Amber List (moderate evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Severe form likely to present clinically, so milder forms, which are more amenable to treatment are likely to be identified through screening.

However, the effectiveness of treatment is not established, PMID 35683414 for a recent review.
Created: 31 May 2023, 1:40 a.m. | Last Modified: 31 May 2023, 1:44 a.m.
Panel Version: 0.2156

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycine encephalopathy, MIM# 605899

Publications

John Christodoulou (Murdoch Children's Research Institute)

I don't know

causes nonketotic hyperglycaemia

classical form presents in the neonatal period and treatments (eg sodium benzoate and NDMA receptor antagonists) do not alter the neurological trajectory

milder forms of the disorder (later onset, but still in early childhood), may show response to therapy (PMID: 21411353); potentially aided by phenotype-genotype correlations (PMID: 32421718)
Created: 20 Nov 2022, 6:30 a.m. | Last Modified: 20 Nov 2022, 6:46 a.m.
Panel Version: 0.950

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
acute encephalopathy; seizures; intellectual disability

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • BabySeq Category A gene
Phenotypes
  • Glycine encephalopathy, MIM# 605899
Tags
treatable metabolic
OMIM
238300
Clinvar variants
Variants in GLDC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 May 2023, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GLDC were set to 16404748; 34513771

31 May 2023, 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).

31 May 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Jan 2023, Gel status: 2

Removed Tag, Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: GLDC. Tag treatable tag was added to gene: GLDC. Tag metabolic tag was added to gene: GLDC.

21 Nov 2022, 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).

21 Nov 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GLDC were changed from Glycine encephalopathy to Glycine encephalopathy, MIM# 605899

21 Nov 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GLDC were set to

21 Nov 2022, Gel status: 2

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: GLDC.

21 Nov 2022, 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).

18 Sep 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 gNBS. Sources: BabySeq Category A gene,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