Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Limb disorders

Gene: RBM10

Red List (low evidence)

RBM10 (RNA binding motif protein 10)
EnsemblGeneIds (GRCh38): ENSG00000182872
EnsemblGeneIds (GRCh37): ENSG00000182872
OMIM: 300080, Gene2Phenotype
RBM10 is in 6 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

Associated with TARP syndrome in OMIM and probably association in Gene2Phenotype.
6 families reported (PMID: 20451169 - families 1 and 2; 21910224- family 3;24259342 - families 4,5,6) with variable TARP syndrome or TARP syndrome related phenotypes in males. Phenotypes related to limb disorders include talipes equinovarus in 1 family, and probably in the first described family (no journal access, PMID: 5410571), extreme dorsiflexion of the left foot in the 3rd family, mild toe syndactyly, postaxial toe polydactyly, cutaneous syndactyly but no talipes equinovarus in a 4th family, foreshortened long bones and clinodactyly (no talipes equinovarus) in a fifth family and clinodactyly in a 6th family.
Created: 24 Oct 2018, 2:38 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
TARP syndrome 311900

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • TARP syndrome 311900
OMIM
300080
Clinvar variants
Variants in RBM10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Eleanor Williams: Associated with TARP syndrome

7 Nov 2018, Gel status: 1

Set mode of inheritance, Set Phenotypes, Set publications

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene RBM10 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes TARP syndrome 311900 for gene: RBM10 Publications for gene RBM10 were changed from to 21910224; 20451169; 24259342

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RBM10 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

RBM10 was created by Ellen McDonagh