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  3. DRG1
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Growth failure

Gene: DRG1

Green List (high evidence)
DRG1 (developmentally regulated GTP binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000185721
EnsemblGeneIds (GRCh37): ENSG00000185721
OMIM: 603952, Gene2Phenotype
DRG1 is in 5 panels

1 review

Dean Phelan (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 37179472
- Biallelic variants were identified in four affected individuals from three distinct families with neurodevelopmental disorder with global developmental delay, primary microcephaly, short stature and craniofacial anomalies. Functional studies show the variants result in a loss of function.
Sources: Literature
Created: 6 Jul 2023, 2:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder (MONDO:0700092), DRG1-related

Publications

Created: 6 Jul 2023, 2:55 a.m.

Panel version: 1.63

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Tan-Almurshedi syndrome, MIM# 620641
OMIM
603952
Clinvar variants
Variants in DRG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Dec 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DRG1 were changed from Neurodevelopmental disorder (MONDO:0700092), DRG1-related to Tan-Almurshedi syndrome, MIM# 620641

6 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Krithika Murali (Victorian Clinical Genetics Services)

Gene: drg1 has been classified as Green List (High Evidence).

6 Jul 2023, Gel status: 0

Entity classified by Genomics England curator

Krithika Murali (Victorian Clinical Genetics Services)

Gene: drg1 has been removed from the panel.

6 Jul 2023, Gel status: 0

Entity classified by Genomics England curator

Krithika Murali (Victorian Clinical Genetics Services)

Gene: drg1 has been removed from the panel.

6 Jul 2023, Gel status: 0

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

Dean Phelan (Victorian Clinical Genetics Services)

gene: DRG1 was added gene: DRG1 was added to Growth failure. Sources: Literature Mode of inheritance for gene: DRG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DRG1 were set to PMID: 37179472 Phenotypes for gene: DRG1 were set to Neurodevelopmental disorder (MONDO:0700092), DRG1-related Review for gene: DRG1 was set to GREEN