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Primary lymphoedema v2.0 PTPN14 Louise Daugherty commented on gene: PTPN14
Primary lymphoedema v1.35 PTPN14 Ellen McDonagh reviewed gene: PTPN14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary lymphoedema v1.34 PTPN14 Ellen McDonagh Source London South GLH was added to PTPN14.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Primary lymphoedema v1.27 PTPN14 Rebecca Foulger Classified gene: PTPN14 as Green List (high evidence)
Primary lymphoedema v1.27 PTPN14 Rebecca Foulger Added comment: 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.
Primary lymphoedema v1.27 PTPN14 Rebecca Foulger Gene: ptpn14 has been classified as Green List (High Evidence).
Primary lymphoedema v1.26 PTPN14 Rebecca Foulger commented on gene: PTPN14: Au et al (2010, PMID:20826270) provide a mouse model of PTPN14 deficiency where 14% of mutant animals showed swelling of limb extremeties.
Primary lymphoedema v1.25 PTPN14 Rebecca Foulger Source UKGTN was added to PTPN14.
Primary lymphoedema v1.24 PTPN14 Rebecca Foulger Tag watchlist tag was added to gene: PTPN14.
Primary lymphoedema v1.20 PTPN14 Rebecca Foulger commented on gene: PTPN14: 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.
Primary lymphoedema v1.20 PTPN14 Rebecca Foulger Publications for gene PTPN14 were changed from 20826270 to 20826270; 24167460
Primary lymphoedema v1.19 PTPN14 Rebecca Foulger commented on gene: PTPN14
Primary lymphoedema PTPN14 Sarah Leigh marked PTPN14 as ready
Primary lymphoedema PTPN14 Sarah Leigh commented on PTPN14
Primary lymphoedema PTPN14 Pia Ostergaard commented on PTPN14
Primary lymphoedema PTPN14 Pia Ostergaard edited their review of PTPN14