Miscellaneous Metabolic Disorders
STR: GDPAGGRCh37 Position: 191745599-191745646
GRCh38 Position: 190880873-190880920
Repeated Sequence: GCA
Normal Number of Repeats: < 16
Pathogenic Number of Repeats: = or > 400
GLS (glutaminase)
EnsemblGeneIds (GRCh38): ENSG00000115419
EnsemblGeneIds (GRCh37): ENSG00000115419
OMIM: 138280, Gene2Phenotype
GLS is in 0 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
NM_014905.5(GLS):c.-212_-210GCA[X]
3 unrelated cases with glutaminase deficiency were compound heterozygous (2) or homozygous for expansion of the repeat, 680-900 repeats in blood samples and 400-110 repeats in fibroblasts. In an analysis of 8295 genomes the median size of the repeat was 14 repeats (8-16 repeats range). There was 1 heterozygous allele with 90 repeats. Functional assays suggest the predominant effect of the repeats is at the level of histone modifications. Epigenetic gene silencing is the mechanism of disease of the repeat. Other variant types are also reported with disease.
Sources: LiteratureCreated: 29 Aug 2021, 7:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412
Publications
Clinically RelevantInterruptions in the repeated sequence are reported as part of standard diagnostic practise
Details
- Name
- GDPAG
- Chromosome
- 2
- GRCh37 Coordinates
- 191745599-191745646
- GRCh38 Coordinates
- 190880873-190880920
- Repeated Sequence
- GCA
- Normal Number of Repeats: <
- 16
- Pathogenic Number of Repeats: = or >
- 400
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412
- OMIM
- 138280
- Clinvar variants
- Variants in GLS
- Penetrance
- None
- Publications
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: gdpag has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: gdpag has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)STR: GDPAG was added STR: GDPAG was added to Miscellaneous Metabolic Disorders. Sources: Literature Mode of inheritance for STR: GDPAG was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: GDPAG were set to 30970188 Phenotypes for STR: GDPAG were set to Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412 Review for STR: GDPAG was set to GREEN STR: GDPAG was marked as clinically relevant