Vascular skin disordersGene: ATR
Comment on list classification: ATR classified as Amber, associated publication is based on just one family, no further reports of gene disease relationship at this time.
Created: 10 Dec 2019, 11:33 a.m. | Last Modified: 10 Dec 2019, 11:33 a.m.
Panel Version: 0.25
Comment on mode of inheritance: Following advice from Tom Cullup (GOSH) ATR MOI was changed to Monoallelic
Created: 9 Dec 2019, 3:25 p.m. | Last Modified: 9 Dec 2019, 3:25 p.m.
Panel Version: 0.22
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: ATR; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 12:05 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: ATR were set to
Gene: atr has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: ATR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source London North GLH was added to ATR.
gene: ATR was added gene: ATR was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ATR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ATR were set to Cutaneous telangiectasia and cancer syndrome