Clefting disorders
Gene: RBM8A
RBM8A (RNA binding motif protein 8A)
EnsemblGeneIds (GRCh38): ENSG00000265241
EnsemblGeneIds (GRCh37): ENSG00000131795
OMIM: 605313, Gene2Phenotype
RBM8A is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000265241
EnsemblGeneIds (GRCh37): ENSG00000131795
OMIM: 605313, Gene2Phenotype
RBM8A is in 13 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- TAR
- THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
- OMIM
- 605313
- Clinvar variants
- Variants in RBM8A
- Penetrance
- None
- Panels with this gene
-
- Radial Ray Abnormalities
- Skeletal dysplasia
- Fetal anomalies
- Clefting disorders
- Additional findings_Paediatric
- Mendeliome
- IBMDx study
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Hand and foot malformations
History Filter Activity
16 Sep 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RBM8A was added gene: RBM8A was added to Clefting_GEL. Sources: Expert Review Red Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RBM8A were set to TAR; THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME