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Fetal anomalies

Gene: DDRGK1

Green List (high evidence)
DDRGK1 (DDRGK domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000198171
EnsemblGeneIds (GRCh37): ENSG00000198171
OMIM: 616177, Gene2Phenotype
DDRGK1 is in 2 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 25 Feb 2025, 11:15 a.m. | Last Modified: 25 Feb 2025, 11:15 a.m.
Panel Version: 5.78
This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 21 Feb 2025, 12:58 p.m. | Last Modified: 21 Feb 2025, 12:58 p.m.
Panel Version: 5.76

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 21 Feb 2025, 12:58 p.m.
Last Modified: 21 Feb 2025, 12:58 p.m.
Panel version: 5.78

Elizabeth Wall (Birmingham Women's and Children's Hospital)

Green List (high evidence)

Associated with Spondyloepimetaphyseal dysplasia, Shohat type in seven unrelated cases from multiple ethnicities and supported by functional studies. Plausible prenatal presentation. Prenatal presentation of short limbs in PMID 28263186. PMID:28263186 reported six individuals from three different families of Iraqi Jewish descent (three patients from family 1 and one individual each from families 2-4) identified with homozygous c.408+1G>A donor splice site loss-of-function mutation in DDRGK1 and presented with Shohat-type spondyloepimetaphyseal dysplasia (SEMD). It is a skeletal dysplasia that affects cartilage development. PMID: 35670300 reported two unrelated cases of Moroccan descent identified with homozygous missense variant c.406G>A and presented with SEMD. PMID:36243336 reported an Omani female patient identified with the same homozygous variant as the Iraqi cases and was reported with SEMD. In addition, studies on both zebrafish and mouse models confirms the physiological role of DDRGK1 in the development and maintenance of the growth plate cartilage and deficiency of DDRGK1 recapitulate the clinical phenotype of short stature and joint abnormalities observed in patients with Shohat type SEMD (PMID:28263186; PMID:35377455).
Created: 21 Feb 2025, 12:56 p.m. | Last Modified: 21 Feb 2025, 12:56 p.m.
Panel Version: 5.75

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondyloepimetaphyseal dysplasia, Shohat type, MIM#602557

Publications

Created: 21 Feb 2025, 12:56 p.m.
Last Modified: 21 Feb 2025, 12:56 p.m.
Panel version: 5.75

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Shohat type, OMIM:602557
OMIM
616177
Clinvar variants
Variants in DDRGK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ NHS_review was removed from gene: DDRGK1. Tag Q1_25_ promote_green was removed from gene: DDRGK1.

25 Feb 2025, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to DDRGK1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

21 Feb 2025, Gel status: 2

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ NHS_review tag was added to gene: DDRGK1. Tag Q1_25_ promote_green tag was added to gene: DDRGK1.

20 Feb 2025, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: DDRGK1 was added gene: DDRGK1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: DDRGK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDRGK1 were set to 35670300; 35377455; 28263186; 36243336 Phenotypes for gene: DDRGK1 were set to Spondyloepimetaphyseal dysplasia, Shohat type, OMIM:602557