PanelApp (stage)
  1. Genes and Genomic Entities
  2. PTPN14

PTPN14

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green PTPN14 in Lymphoedema_nonsyndromic


Level 2: Cardiovascular disorders
Version 0.39

Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Choanal atresia and lymphedema MIM#613611

    Green PTPN14 in Mendeliome


    Version 1.1891

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Choanal atresia and lymphoedema, MIM# 613611

    Red PTPN14 in Vascular Malformations_Germline


    Level 2: Cardiovascular disorders
    Version 1.11

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Choanal atresia and lymphedema 613611

    Green PTPN14 in Lymphoedema_syndromic

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 0.12

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • London South GLH
    Phenotypes
    • Choanal atresia and lymphedema, 613611

    Amber PTPN14 in Choanal atresia


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.5

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Choanal atresia and lymphoedema, MIM#613611
    • MONDO:0013324

    Green PTPN14 in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Lymphedema-posterior choanal atresia syndrome, MONDO:0013324
    • Choanal atresia and lymphedema, OMIM:613611