Bleeding and platelet disordersGene: RNU4ATAC
Associated with Roifman's a growth retardation syndrome and Microcephalic primordial dwarfism, type I. Although this gene is classed as tier 1 by the ISTH ("gene-disease association had been reported in at least 3 independent pedigrees, or <3 pedigrees and supported by specific functional data and/or a mouse model, and following expert discussions during yearly SSC meetings"), I would suggest that this target should not be included on this panel since it is associated with syndromic conditions.
Created: 13 Mar 2019, 10:49 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
210710; # 616651
Comment on list classification: Downgraded rating from Green to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene Amber.
Created: 22 Jul 2019, 10:48 a.m. | Last Modified: 22 Jul 2019, 10:48 a.m.
Panel Version: 0.71
GLH reviews since webex on 8th March 2019:
YNEGLH- RNU4ATAC seems very syndromic and no bleeding association in HGMD- all changes associated with disease are in 5’ UTR- RED
WWMGLH- IT IS ON THE ISTH GENE LIST GREEN
NWGLH – this target is associated with pronounced syndromes so I would not include on R90
LSGLH- I’d agree that that gene is unlikely to present with isolated bleeding symptoms. Don’t think it should be included as Green. Happy for it to be AMBER or RED.
Created: 22 Jul 2019, 10:45 a.m. | Last Modified: 22 Jul 2019, 10:45 a.m.
Panel Version: 0.70
Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Green
Created: 28 May 2019, 2:08 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RNU4ATAC; Suggested intial gene rating: Green List (high evidence); Are variants in this gene as part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type I / Roifman syndrome ; PMID(s): none submitted
Created: 5 Feb 2019, 1:26 p.m.
Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.
Created: 5 Feb 2019, 11:19 a.m.
Gene: rnu4atac has been classified as Amber List (Moderate Evidence).
Source NHS GMS was added to RNU4ATAC.
Source Expert Review Green was added to RNU4ATAC. Mode of inheritance for gene RNU4ATAC was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Microcephalic osteodysplastic primordial dwarfism, type I / Roifman syndrome for gene: RNU4ATAC Publications for gene RNU4ATAC were changed from to none submitted Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: RNU4ATAC was added gene: RNU4ATAC was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RNU4ATAC was set to