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  3. RAB35
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Fetal anomalies

Gene: RAB35

Red List (low evidence)
RAB35 (RAB35, member RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000111737
EnsemblGeneIds (GRCh37): ENSG00000111737
OMIM: 604199, Gene2Phenotype
RAB35 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

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
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.148

Natalie Chandler (North Thames GLH)

Red List (low evidence)

Not on UK panelapp. Red on mendeliome Aus. PMID 38432637 single case with hom missense, consanguineous family. Magnetic resonance imaging of the brain at 11 months revealed a large cyst in the posterior fossa, enlarged lateral ventricles, and a severely hypoplastic vermis, consistent with a Dandy Walker malformation. No further papers.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • neurodevelopmental disorder
OMIM
604199
Clinvar variants
Variants in RAB35
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes neurodevelopmental disorder for gene: RAB35

9 Mar 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: RAB35 was added gene: RAB35 was added to Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: RAB35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted