Childhood onset hereditary spastic paraplegia
Gene: RHOB
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
Recurrent de novo missense variant reported in 2 unrelated families from a 'cerebral palsy' cohort with supporting functional studies.
Sources: LiteratureCreated: 4 Nov 2020, 3:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cerebral palsy
Publications
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
Gene: rhob has been classified as Amber List (Moderate Evidence).
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