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  3. ARHGAP35
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Fetal anomalies

Gene: ARHGAP35

Red List (low evidence)
ARHGAP35 (Rho GTPase activating protein 35)
EnsemblGeneIds (GRCh38): ENSG00000160007
EnsemblGeneIds (GRCh37): ENSG00000160007
OMIM: 605277, Gene2Phenotype
ARHGAP35 is in 5 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Red List (low evidence)

Acrania in isolation would not be an indication for R21. 41714291 single case, variant classification problematic, overall conclusions flawed. 36178483 is about idiopathic hypogonadotrophic hypogonadism in animal model (would not present antenatally)
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Acrania-exencephaly-anencephaly sequence, a rare uniformaly lethal and progressive neural defect

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Acrania-exencephaly-anencephaly sequence, a rare uniformaly lethal and progressive neural defect
OMIM
605277
Clinvar variants
Variants in ARHGAP35
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 1

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

Ida Ertmanska (Genomics England Curator)

gene: ARHGAP35 was added gene: ARHGAP35 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: ARHGAP35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARHGAP35 were set to 41714291; 36178483 Phenotypes for gene: ARHGAP35 were set to Acrania-exencephaly-anencephaly sequence, a rare uniformaly lethal and progressive neural defect