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Fetal anomalies

Gene: RBM8A

Green List (high evidence)

RBM8A (RNA binding motif protein 8A)
EnsemblGeneIds (GRCh38): ENSG00000265241
EnsemblGeneIds (GRCh37): ENSG00000131795
OMIM: 605313, Gene2Phenotype
RBM8A is in 12 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Additional evidence from PMID:29595812:AR variant identified in RBM8A from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).
Created: 18 Apr 2019, 3:54 p.m.
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 4 Apr 2019, 10:28 a.m.
DDG2P rating in original PAGE list: Confirmed for THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
Created: 11 Dec 2018, 9:05 a.m.

Publications

History Filter Activity

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: RBM8A was added gene: RBM8A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RBM8A were set to THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME