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  2. Childhood onset hereditary spastic paraplegia
  3. RHOB

Childhood onset hereditary spastic paraplegia

Gene: RHOB

Amber List (moderate evidence)
RHOB (ras homolog family member B)
EnsemblGeneIds (GRCh38): ENSG00000143878
EnsemblGeneIds (GRCh37): ENSG00000143878
OMIM: 165370, Gene2Phenotype
RHOB is in 1 panel

2 reviews

Sarah Leigh (Genomics England Curator)

I don't know

Comment on mode of pathogenicity: PMID: 32989326 reports RHOB p.Ser73Phe as being gain of function.
Created: 9 Jan 2024, 3:17 p.m. | Last Modified: 9 Jan 2024, 3:17 p.m.
Panel Version: 4.36
Not associated with a phenotype in OMIM, Gen2Phen or MONDO. No further RHOB variants have been published since p.Ser73Phe was reported in two cases in PMID: 32989326.
Created: 9 Jan 2024, 3:15 p.m. | Last Modified: 9 Jan 2024, 3:15 p.m.
Panel Version: 4.35
Created: 9 Jan 2024, 3:15 p.m.
Last Modified: 9 Jan 2024, 3:15 p.m.
Panel version: 4.35

Zornitza Stark (Australian Genomics)

I don't know

Recurrent de novo missense variant reported in 2 unrelated families from a 'cerebral palsy' cohort with supporting functional studies.
Sources: Literature
Created: 4 Nov 2020, 3:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cerebral palsy

Publications

Created: 4 Nov 2020, 3:06 a.m.

Panel version: 2.19

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Cerebral palsy
OMIM
165370
Clinvar variants
Variants in RHOB
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

9 Jan 2024, Gel status: 2

Set mode of pathogenicity

Sarah Leigh (Genomics England Curator)

Mode of pathogenicity for gene: RHOB was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

9 Jan 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: rhob has been classified as Amber List (Moderate Evidence).

4 Nov 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: RHOB was added gene: RHOB was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature Mode of inheritance for gene: RHOB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RHOB were set to 32989326 Phenotypes for gene: RHOB were set to Cerebral palsy Review for gene: RHOB was set to AMBER