Mosaic skin disorders - deep sequencing
Gene: PTPN11EnsemblGeneIds (GRCh38): ENSG00000179295
EnsemblGeneIds (GRCh37): ENSG00000179295
OMIM: 176876, Gene2Phenotype
PTPN11 is in 27 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
The 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
Eleanor Williams (Genomics England Curator)
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
Tom Cullup (Great Ormond Street Hospital)
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
- Mosaic case series currently under publication review - expected to be published by end of 2021
Rebecca Foulger (Genomics England curator)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- London North GLH
- NHS GMS
- Phenotypes
-
- Phakomatosis pigmentovascularis (PPV), MONDO:0017318
- LEOPARD syndrome 1, OMIM:151100
- Speckled lentiginous naevus syndrome (deletion)
- OMIM
- 176876
- Clinvar variants
- Variants in PTPN11
- Penetrance
- None
- Publications
-
- Mosaic case series shortly to be published by Kinsler group
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Hereditary neuropathy
- Bleeding and platelet disorders
- DDG2P
- Haematological malignancies cancer susceptibility
- Intellectual disability
- Pigmentary skin disorders
- Monogenic short stature
- Osteogenesis imperfecta
- Neurofibromatosis Type 1
- Fetal hydrops
- Haematological malignancies for rare disease
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- Paediatric or syndromic cardiomyopathy
- Inherited bleeding disorders
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
History Filter Activity
Removed Tag, Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_21_rating was removed from gene: PTPN11. Tag Q4_21_NHS_review was removed from gene: PTPN11.
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to PTPN11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Eleanor Williams (Genomics England Curator)Tag Q4_21_NHS_review tag was added to gene: PTPN11.
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: ptpn11 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Eleanor Williams (Genomics England Curator)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)
Added Tag
Eleanor Williams (Genomics England Curator)Tag Q4_21_rating tag was added to gene: PTPN11.
Set Phenotypes
Eleanor Williams (Genomics England Curator)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)
Added New Source, Set publications, Status Update
Catherine Snow (Genomics England)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)
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to PTPN11.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)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)