Limb disorders
Gene: RBM10
RBM10 (RNA binding motif protein 10)
EnsemblGeneIds (GRCh38): ENSG00000182872
EnsemblGeneIds (GRCh37): ENSG00000182872
OMIM: 300080, Gene2Phenotype
RBM10 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000182872
EnsemblGeneIds (GRCh37): ENSG00000182872
OMIM: 300080, Gene2Phenotype
RBM10 is in 5 panels
1 review
Eleanor Williams (Genomics England Curator)
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