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  3. WDHD1
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Severe microcephaly

Gene: WDHD1

Amber List (moderate evidence)
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: There are >10 unrelated families reported with severe microcephaly and with biallelic WDHD1 variants. Hence, this gene can be promoted to green rating in the next GMS update.
Created: 14 Apr 2026, 5:26 p.m. | Last Modified: 14 Apr 2026, 5:26 p.m.
Panel Version: 8.46
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. 12 of these patients had an OFC at a Z-score of -3 or lower at either birth or last examination. 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, 5:24 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
microcephalic osteodysplastic primordial dwarfism, MONDO:0000060

Publications

Created: 14 Apr 2026, 5:24 p.m.

Panel version: 8.45

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • microcephalic osteodysplastic primordial dwarfism, MONDO:0000060
Tags
Q2_26_promote_green
OMIM
608126
Clinvar variants
Variants in WDHD1
Penetrance
None
Publications
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 Severe microcephaly. 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 Review for gene: WDHD1 was set to GREEN