Cytopenias and congenital anaemiasGene: SRP72
Comment on list classification: Updated rating from Green to Red: Variants only reported in 2 kindreds so far (recent reviews only refer to the two families). More evidence is required to be confident about causation.
Created: 9 Mar 2017, 12:30 p.m.
Added 'watchlist' tag because SRP72 is included in many reviews about aplasia and MDS (Bone marrow failure syndrome) but only 2 separate kindreds reported so far.
Created: 9 Mar 2017, 12:28 p.m.
2 unrelated families with bone marrow failure reported with SRP72 variants by PMID:22541560 (Kirwan 2012): in the first family, the proband had aplastic anemia, and 2 siblings had pancytopenia. Only MDS reported in the second family.
Created: 9 Mar 2017, 10:42 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Myelodysplastic syndrome (MDS), Paediatric; Bone marrow failure syndrome
Variants in this GENE are reported as part of current diagnostic practice
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for SRP72 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
SRP72 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN
SRP72 was created by LouiseD