Primary lymphoedema

Gene: PTPN14

Green List (high evidence)

PTPN14 (protein tyrosine phosphatase, non-receptor type 14)
EnsemblGeneIds (GRCh38): ENSG00000152104
EnsemblGeneIds (GRCh37): ENSG00000152104
OMIM: 603155, Gene2Phenotype
PTPN14 is in 4 panels

5 reviews

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green following request from Athina Ververi (GOSH), and advice from Helen Brittain. Green expert review, two literature cases (2010/PMID:20826270 and 2017/Bordbar et al), plus mouse model (PMID:20826270). PTPN14 is on the St. George's hospital Primary Lymphedema Disorders 15 Gene Panel, and it is recorded in literature and from clinical review that variants in PTPN14 are a rare cause of lymphedema.
Created: 24 Sep 2018, 8:18 a.m.
Au et al (2010, PMID:20826270) provide a mouse model of PTPN14 deficiency where 14% of mutant animals showed swelling of limb extremeties.
Created: 24 Sep 2018, 8:11 a.m.
Bordbar et al (2017, https://www.sciencedirect.com/science/article/pii/S2214540017300543) report an Iranian family with a single child with bilateral choanal atresia and infantile-onset lymphedema. Screening of PTPN14 revealed a novel homozygous frameshift insertion in exon4 (p.(Leu135Tyrfs*5). This forms the second reported family with choanal atresia and lymphedema syndrome: The first family was reported in Au et al, 2010 (PMID:20826270).
Created: 17 Sep 2018, 2:41 p.m.
PMID:24167460 (Mendola et al. 2013) screened 227 samples for lymphedema genes but no PTPN14 variant was found in this study: PTPN14 variants may account for a very small proportion of primary hereditary lymphedema.
Created: 17 Sep 2018, 2:26 p.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a probable Developmental Disorder Gene / G2P. Only one variants reported to date (November 2016)
Created: 1 Nov 2016, 4:08 p.m.

Pia Ostergaard (St George's)

Green List (high evidence)

Yes, although rare
Created: 1 Nov 2016, 3:51 p.m.
Yes, although rare
Created: 28 Oct 2016, 8:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Choanal atresia and lymphedema, 613611

Variants in this GENE are reported as part of current diagnostic practice

Richard Scott (Genomics England Curator)

Comment on list classification: Only one family reported to date. Await further published data.
Created: 29 Jul 2016, 10:14 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London South GLH
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Choanal atresia and lymphedema, 613611
Tags
watchlist
OMIM
603155
Clinvar variants
Variants in PTPN14
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

20 Feb 2019, Gel status: 3

Added New Source, Status Update

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to PTPN14. Rating Changed from Green List (high evidence) to Green List (high evidence)

24 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: ptpn14 has been classified as Green List (High Evidence).

18 Sep 2018, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source UKGTN was added to PTPN14.

18 Sep 2018, Gel status: 1

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: PTPN14.

17 Sep 2018, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene PTPN14 were changed from 20826270 to 20826270; 24167460

2 Nov 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

A combined panel for lymphatic disorders - Meiges disease - Milroy disease - Lymphoedema distichiasis Promoted to V1 02/11/2016

1 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

30 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

PTPN14 was created by sleigh

30 Sep 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PTPN14 was added to Lymphatic Disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red