PTPN14

protein tyrosine phosphatase, non-receptor type 14
OMIM: 603155, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red PTPN14 in Choanal atresia

Level 3: Choanal anomalies
Level 2: Skeletal disorders
Version 1.16

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Choanal atresia and lymphedema, 613611
Green PTPN14 in Fetal anomalies


Version 3.135
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Choanal atresia and lymphedema, OMIM:613611
  • Lymphedema-posterior choanal atresia syndrome, MONDO:0013324
Green PTPN14 in DDG2P


Version 3.79
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • CHOANAL ATRESIA AND LYMPHEDEMA 613611
    Green PTPN14 in Primary lymphoedema

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 3.9
    Latest signed off version: v3.0 (30 Nov 2022)

    review 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