Mosaic skin disorders - deep sequencingGene: PTPN11
Retain as Amber gene until sufficient evidence published / gathered.
Created: 5 Dec 2019, 3:40 p.m. | Last Modified: 5 Dec 2019, 3:40 p.m.
Panel Version: 0.16
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Noonan syndrome with lentigines (LEOPARD)(151100); Speckled lentiginous naevus syndrome (deletion) and PPV spilorosea (missense activating like Leopard)
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: PTPN11; 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, 2:50 p.m.
Source Expert Review Amber was added to PTPN11. Publications for gene PTPN11 were changed from to Mosaic case series shortly to be published by Kinsler group Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Source London North GLH was added to PTPN11.
gene: PTPN11 was added gene: PTPN11 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTPN11 were set to Noonan syndrome; Noonan syndrome with lentigines (LEOPARD)