Fetal anomalies
Gene: WDHD1

WDHD1 (WD repeat and HMG-box DNA binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000198554
EnsemblGeneIds (GRCh37): ENSG00000198554
OMIM: 608126, Gene2Phenotype
WDHD1 is in 2 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Foetal abnormalities were reported in 14 unrelated families with biallelic WDHD1 variants. Hence, this gene can be promoted to green rating in the next GMS update.
Created: 14 Apr 2026, 5:43 p.m. | Last Modified: 14 Apr 2026, 5:43 p.m.

Panel Version: 6.189

PMID:41962535 (2026) reported the identification of biallelic hypomorphic variants in WDHD1 gene in 17 patients from 14 families with microcephalic primordial dwarfism (MPD) and a broad spectrum of additional abnormalities including acute liver failure. IUGR and/ or other foetal abnormalities such as microcephaly and oligohydramnios were reported in all cases. Four cases from three families had prenatal death or termination of pregnancy. There is also functional evidence available from patient-derived fibroblasts which supports the disease association.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype (records last accessed 14 April 2026).
Sources: Literature
Created: 14 Apr 2026, 5:41 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
microcephalic osteodysplastic primordial dwarfism, MONDO:0000060; Intrauterine growth retardation, HP:0001511

Publications

41962535

Created: 14 Apr 2026, 5:41 p.m.

Panel version: 6.188

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Literature

Phenotypes

microcephalic osteodysplastic primordial dwarfism, MONDO:0000060
Intrauterine growth retardation, HP:0001511

Tags

Q2_26_promote_green

OMIM

608126

Clinvar variants

Variants in WDHD1

Penetrance

None

Publications

41962535

Panels with this gene

History Filter Activity

14 Apr 2026, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: wdhd1 has been classified as Amber List (Moderate Evidence).

14 Apr 2026, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: WDHD1 was added gene: WDHD1 was added to Fetal anomalies. Sources: Literature Q2_26_promote_green tags were added to gene: WDHD1. Mode of inheritance for gene: WDHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDHD1 were set to 41962535 Phenotypes for gene: WDHD1 were set to microcephalic osteodysplastic primordial dwarfism, MONDO:0000060; Intrauterine growth retardation, HP:0001511 Review for gene: WDHD1 was set to GREEN

Fetal anomalies Gene: WDHD1