This Panel is marked as Internal
Early onset pancytopenia and red cell disorders
Gene: RBM8A
RBM8A (RNA binding motif protein 8A)
EnsemblGeneIds (GRCh38): ENSG00000265241
EnsemblGeneIds (GRCh37): ENSG00000131795
OMIM: 605313, Gene2Phenotype
RBM8A is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000265241
EnsemblGeneIds (GRCh37): ENSG00000131795
OMIM: 605313, Gene2Phenotype
RBM8A is in 11 panels
1 review
Ellen McDonagh (Genomics England Curator)
The UKGTN gene dossier explains that a 200kb deletion at 1q21.1 encompassing the genes; HFE2, TXNIP, PLOR3GL, ANKRD34A, LIX1L, RBM8A, GNRHR2, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT1, is tested for diagnosis of Thrombocytopenia Absent-Radius Syndrome. "PLOR3GL" is likely to be POLR3GL, the correct spelling for this gene in this region.Created: 25 Jun 2015, 10:57 a.m.
Details
- Sources
-
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Thrombocytopenia Absent-Radius Syndrome
- OMIM
- 605313
- Clinvar variants
- Variants in RBM8A
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
30 Sep 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)RBM8A was added to Early onset pancytopenia and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen
30 Sep 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)RBM8A was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN
25 Jun 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)RBM8A was added to Early onset pancytopenia and red cell disorderspanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
25 Jun 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)RBM8A was added to Early onset pancytopenia and red cell disorderspanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen