Hand and foot malformations
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
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Vast majority are due to a recurrent 200kb deletion on one allele (although truncations are seen) and the presence of 1 of 2 SNPs in trans. The SNPs have a MAF of 3.05% and 0.42%.Created: 23 Jul 2020, 7:41 a.m. | Last Modified: 23 Jul 2020, 7:41 a.m.
Panel Version: 0.3484
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Thrombocytopenia-absent radius syndrome, MIM# 274000
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Expert Review Green
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Thrombocytopenia-absent radius syndrome 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
22 Sep 2021, 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 Hand and foot malformation. 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 274000