Cytopenias and congenital anaemias

Gene: RBM8A

I don't know

Comment when marking as ready: Not appropriate in terms of phenotype

Created: 28 Feb 2017, 1:57 p.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.

Comment on list classification: Presentation from a haematological point of view is with isolated platelet anomaly. Therefore not appropriate for inclusion on this panel.

Created: 28 Feb 2017, 1:55 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

• 22366785

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.