Fetal anomalies
Gene: WDR91

WDR91 (WD repeat domain 91)
EnsemblGeneIds (GRCh38): ENSG00000105875
EnsemblGeneIds (GRCh37): ENSG00000105875
OMIM: 616303, Gene2Phenotype
WDR91 is in 1 panel

3 reviews

Natalie Chandler (North Thames GLH)

Green List (high evidence)

Not reviewed since 2021, Multiple new papers. PMID: 32732226 hom truncating variant in a fetus with hygroma and hydrocephaly detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hygroma, macrocephaly, abnormal ears, unilateral simian crease, hydrocephaly, cerebellar hypoplasia, and interventricular communication. A homozygous truncating variant was found by exome sequencing with concordant segregation among 4 affected fetus, 2 healthy sibs and both parents. PMID: 38041506 hom splice variant microcephaly, severe microlissencephaly, agenesis of corpus callosum, epilepsy, spastic tetraparesis, laryngomalacia, bicuspid aortic valve, congenital hip dislocation, growth retardation, dysmorphisms; PMID: 34791078 diff hom splice variant - brain malformation, no specifc details. Consanguineous; PMID: 40550703 same splice variant, ? same case although no obvious link from authors. microcephaly, brain MRI bilateral cerebral hemisphere hypoplasia with incomplete sulcation, agenesis of the corpus callosum, suspected bilateral periventricular heterotopias, curvature of the superior margin of the pituitary gland, symmetrical ventricular enlargement, possible subdural hygromas, renal dilation. Other papers supportive mouse models. Probably enough for green but macro vs microcephaly.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.

Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
microcephaly, dysmorphic features, organomegaly, psychomotor delay, hypotonia, sensorineural hearing impairment, visual impairment

Publications

40550703

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Zornitza Stark (Australian Genomics)

I don't know

Mouse models also support role in brain development.
Created: 11 Jun 2021, 7:35 a.m. | Last Modified: 11 Jun 2021, 7:35 a.m.

Panel Version: 1.674

Publications

Created: 11 Jun 2021, 7:35 a.m.
Last Modified: 11 Jun 2021, 7:35 a.m.
Panel version: 1.674

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.

Panel Version: 6.149

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. 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, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.

Panel Version: 6.148

Novel candidate gene identified in a fetus with hygroma and hydrocephaly detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hygroma, macrocephaly, abnormal ears, unilateral simian crease, hydrocephaly, cerebellar hypoplasia, and interventricular communication. A homozygous truncating variant was found by exome sequencing with concordant segregation among 4 affected fetus, 2 healthy sibs and both parents
Sources: Literature
Created: 2 Jun 2021, 1:53 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hygroma; Hydrocephaly

Publications

32732226

Created: 2 Jun 2021, 1:53 p.m.

Panel version: 6.150

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature

Phenotypes

Hygroma
Hydrocephaly
microcephaly, dysmorphic features, organomegaly, psychomotor delay, hypotonia, sensorineural hearing impairment, visual impairment

Tags

gene-checked

OMIM

616303

Clinvar variants

Variants in WDR91

Penetrance

None

Publications

Panels with this gene

Fetal anomalies