Transplant Co-Morbidity Superpanel
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 list
- Expert Review Green
- Phenotypes
-
- Thrombocytopenia-absent radius syndrome, MIM# 274000
- 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
1 Aug 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: RBM8A was added gene: RBM8A was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RBM8A were set to Thrombocytopenia-absent radius syndrome, MIM# 274000