Research panel - Severe Paediatric Disorders
Gene: RHOH

RHOH (ras homolog family member H)
EnsemblGeneIds (GRCh38): ENSG00000168421
EnsemblGeneIds (GRCh37): ENSG00000168421
OMIM: 602037, Gene2Phenotype
RHOH is in 3 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: RHOH; Recommended initial gene rating: I don't know; Phenotypes: ?Spastic paraplegia 72, autosomal dominant, 615625 (3) | ?Spastic paraplegia 72, autosomal recessive, 615625 (3); Mode of inheritance: Autosomal recessive, Autosomal dominant | Autosomal recessive, Autosomal dominant
Created: 20 Feb 2020, 5:28 p.m. | Last Modified: 20 Feb 2020, 5:28 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:28 p.m.
Last Modified: 20 Feb 2020, 5:28 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Amber
Expert list

Phenotypes

?Spastic paraplegia 72, autosomal dominant, 615625
?Spastic paraplegia 72, autosomal recessive, 615625

OMIM

602037

Clinvar variants

Variants in RHOH

Penetrance

None

Publications

30847515

Panels with this gene