Mosaic skin disorders - deep sequencing
Gene: PTPN11The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 2:31 p.m. | Last Modified: 9 Mar 2022, 2:31 p.m.
Panel Version: 1.22
Comment on list classification: Leaving rating as amber, but with recommendation for green rating after GMS confirmation given the green review from NHS reviewer.Created: 24 Nov 2021, 5:17 p.m. | Last Modified: 24 Nov 2021, 5:17 p.m.
Panel Version: 1.18
Request upgrade to green in order that panel updates can be made in preparation for publication of case series, without delay waiting for next PanelApp update cycle.Created: 21 Oct 2021, 3:27 p.m. | Last Modified: 21 Oct 2021, 3:27 p.m.
Panel Version: 1.5
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
Phenotypes
Phakomatosis pigmentovascularis (PPV), Noonan syndrome with lentigines (LEOPARD)(151100); Speckled lentiginous naevus syndrome (deletion)
Publications
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.
Tag Q4_21_rating was removed from gene: PTPN11. Tag Q4_21_NHS_review was removed from gene: PTPN11.
Source Expert Review Green was added to PTPN11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q4_21_NHS_review tag was added to gene: PTPN11.
Gene: ptpn11 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: PTPN11 were changed from Noonan syndrome; Noonan syndrome with lentigines (LEOPARD); Phakomatosis pigmentovascularis (PPV), Noonan syndrome with lentigines (LEOPARD)(151100); Speckled lentiginous naevus syndrome (deletion) to Phakomatosis pigmentovascularis (PPV), MONDO:0017318; LEOPARD syndrome 1, OMIM:151100; Speckled lentiginous naevus syndrome (deletion)
Tag Q4_21_rating tag was added to gene: PTPN11.
Phenotypes for gene: PTPN11 were changed from Noonan syndrome; Noonan syndrome with lentigines (LEOPARD) to Noonan syndrome; Noonan syndrome with lentigines (LEOPARD); Phakomatosis pigmentovascularis (PPV), Noonan syndrome with lentigines (LEOPARD)(151100); Speckled lentiginous naevus syndrome (deletion)
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)