Primary lymphoedemaGene: PTPN14
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.
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.
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.
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
Choanal atresia and lymphedema, 613611
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Only one family reported to date. Await further published data.
Created: 29 Jul 2016, 10:14 p.m.
Source London South GLH was added to PTPN14. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene: ptpn14 has been classified as Green List (High Evidence).
Source UKGTN was added to PTPN14.
Tag watchlist tag was added to gene: PTPN14.
Publications for gene PTPN14 were changed from 20826270 to 20826270; 24167460
A combined panel for lymphatic disorders - Meiges disease - Milroy disease - Lymphoedema distichiasis Promoted to V1 02/11/2016
This gene has been classified as Red List (Low Evidence).
PTPN14 was created by sleigh
PTPN14 was added to Lymphatic Disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red