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Limb disorders

Gene: RBM8A

Green List (high evidence)

RBM8A (RNA binding motif protein 8A)
EnsemblGeneIds (GRCh38): ENSG00000265241
EnsemblGeneIds (GRCh37): ENSG00000131795
OMIM: 605313, Gene2Phenotype
RBM8A is in 11 panels

5 reviews

Helen Brittain (Genomics England Curator)

I don't know

Comment when marking as ready: Considered green as clear causation established, however mechanism is unusual as per: Comment on mode of inheritance: 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%. Information on the SNPs previously sent to Ellen Thomas, who forwarded to Olivia Niblock regarding the LabKey list of difficult variants.
Created: 11 May 2017, 10:05 a.m.
Comment on mode of inheritance: 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: 28 Feb 2017, 1:57 p.m.
Recognised cause of thrombocytopaenia and absent radius however requires biallelic alterations. Above PMID (22366785) shows that a mutation on one allele (in the vast majority a recurrent 200kb deletion at 1q21 but one truncation and one frameshift mutation also seen) has to be inherited in trans with a SNP in the regulatory region on the other. In view of the presence of thrombocytopaenia alone, it is unlikely to be recruited via this panel, however discussion is needed about the ability to detect this condition given the deletion / SNP combination in the majority of cases. Amber at present.
Created: 22 Feb 2017, 5:24 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thrombocytopenia-absent radius syndrome 274000

Publications

Rebecca Foulger (Genomics England curator)

RBM8A is on the panel for Radial dysplasia as an individual gene. In addition, UKGTN report a 200kb deletion for TAR syndrome, which removes 11 genes including RBM8A.
Created: 13 Oct 2016, 10:59 a.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least four variants reported
Created: 29 Jul 2016, 1:53 p.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thrombocytopenia-absent radius syndrome 274000

Variants in this GENE are reported as part of current diagnostic practice

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

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Thrombocytopenia-absent radius syndrome, 274000
OMIM
605313
Clinvar variants
Variants in RBM8A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: The UKGTN gene dossier explain

9 Dec 2018, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: RBM8A were changed from Thrombocytopenia-absent radius syndrome, 274000; Thrombocytopenia-absent radius syndrome 274000 to Thrombocytopenia-absent radius syndrome, 274000

16 Oct 2018, Gel status: 4

Set Phenotypes, Set publications

Sarah Leigh (Genomics England Curator)

Added phenotypes Thrombocytopenia-absent radius syndrome, 274000 for gene: RBM8A Publications for gene RBM8A were changed from to 22366785

5 Apr 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to RBM8A. Panel: Limb disorders UKGTN was added to RBM8A. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to RBM8A. Panel: Limb disorders Emory Genetics Laboratory was added to RBM8A. Panel: Limb disorders Expert list was added to RBM8A. Panel: Limb disorders Model of inheritance for gene RBM8A was set to BIALLELIC, autosomal or pseudoautosomal

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to RBM8A. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RBM8A was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

RBM8A was created by Ellen McDonagh