Radial dysplasia

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 Review Green
  • Expert list
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Thrombocytopenia-absent radius syndrome, 274000
OMIM
605313
Clinvar variants
Variants in RBM8A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 May 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

23.05.2017: Panel revised and approved to Version 1.0 after expert review.

22 May 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for RBM8A were set to Thrombocytopenia-absent radius syndrome, 274000

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 May 2017, Gel status: 3

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for RBM8A were set to Thrombocytopenia-absent radius syndrome 274000

11 May 2017, Gel status: 3

Set publications

Helen Brittain (Genomics England Curator)

Publications for RBM8A were set to 22366785

6 Dec 2016, Gel status: 3

Upload gene information

Rebecca Foulger (Genomics England curator)

RBM8A was added to Radial dysplasiapanel. Sources: Expert list

13 Oct 2016, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

RBM8A was added to Radial dysplasiapanel. Source: UKGTN

13 Oct 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

RBM8A was added to Radial dysplasiapanel. Source: Emory Genetics Laboratory Model of inheritance for gene RBM8A was set to BIALLELIC, autosomal or pseudoautosomal

13 Oct 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

RBM8A was added to Radial dysplasiapanel. Source: Radboud University Medical Center, Nijmegen

13 Oct 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

RBM8A was created by rfoulger

13 Oct 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

RBM8A was added to Radial dysplasiapanel. Sources: Eligibility statement prior genetic testing