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Intellectual disability

Gene: DRG1

Amber List (moderate evidence)
DRG1 (developmentally regulated GTP binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000185721
EnsemblGeneIds (GRCh37): ENSG00000185721
OMIM: 603952, Gene2Phenotype
DRG1 is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There are three unrelated families reported with biallelic DRG1 variants and a syndromic neurodevelopmental disorder that includes global developmental delay and/or intellectual disability. Hence, this gene can be promoted to green rating in the next GMS update.
Created: 30 Oct 2026, 6:37 p.m. | Last Modified: 30 Oct 2026, 6:37 p.m.
Panel Version: 11.72
PMID:37179472 (2023) reported four patients from three different families with biallelic DRG1 variants and with a neurodevelopmental syndrome. Two of these three families are of middle eastern descent and one family is of Singaporean descent. Three stop-gained variants p.Gly54Ter, p.Arg140Ter, p.Lys263Ter, and a missense variant p.Asn248Phe were identified from these patients. All these patients presented with intrauterine growth restriction at birth, global developmental delay, failure to thrive, primary microcephaly, intellectual deficit, and craniofacial anomalies. Severe microcephaly (<-3 SD) was reported in two of the families.

There is also functional evidence available for the variants from HeLa cells which showed that the variants result in loss of function. Evidence from mouse model showed that Drg1 is ubiquitously expressed in mouse embryos and is essential for proper murine development, and homozygous Drg1 knockout led to significantly decreased survival rates compared to controls.

This gene has been associated with relevant phenotypes in OMIM (MIM #620641) and Gene2Phenotype (with 'moderate' rating on the DD panel), and these records were last accessed on 30 October 2026.
Sources: Literature
Created: 30 Oct 2026, 6:33 p.m. | Last Modified: 30 Oct 2026, 6:42 p.m.
Panel Version: 11.72

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tan-Almurshedi syndrome, OMIM:620641; Tan-Almurshedi syndrome, MONDO:0957990

Publications

Created: 30 Oct 2026, 6:33 p.m.
Last Modified: 30 Oct 2026, 6:42 p.m.
Panel version: 11.71

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Tan-Almurshedi syndrome, OMIM:620641
  • Tan-Almurshedi syndrome, MONDO:0957990
Tags
Q4_26_promote_green
OMIM
603952
Clinvar variants
Variants in DRG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Oct 2026, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: drg1 has been classified as Amber List (Moderate Evidence).

30 Oct 2026, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_26_promote_green tag was added to gene: DRG1.

30 Oct 2026, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: DRG1 was added gene: DRG1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: DRG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DRG1 were set to 37179472 Phenotypes for gene: DRG1 were set to Tan-Almurshedi syndrome, OMIM:620641; Tan-Almurshedi syndrome, MONDO:0957990 Review for gene: DRG1 was set to GREEN