Clefting
Gene: RBM10EnsemblGeneIds (GRCh38): ENSG00000182872
EnsemblGeneIds (GRCh37): ENSG00000182872
OMIM: 300080, Gene2Phenotype
RBM10 is in 5 panels
1 review
Helen Brittain (Genomics England Curator)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
TARP SYNDROME; TARPS
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Phenotypes
-
- TARP SYNDROME
- TARPS
- Cleft palate
- OMIM
- 300080
- Clinvar variants
- Variants in RBM10
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Added New Source, Set penetrance
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to RBM10. Panel: Clefting Phenotypes for gene RBM10 were set to TARP SYNDROME, TARPS, Cleft palate
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
Added New Source
Helen Brittain (Genomics England Curator)RBM10 was added to Cleftingpanel. Sources: Expert Review Green
Created
Helen Brittain (Genomics England Curator)RBM10 was created by helen.brittain