Hereditary spastic paraplegia - childhood onset

Gene: RHOB

No list

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

1 review

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Cerebral palsy
OMIM
165370
Clinvar variants
Variants in RHOB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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