PanelApp
  1. Genes and Genomic Entities
  2. PTPN14

PTPN14

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green PTPN14 in Mendeliome


Version 1.4541

1 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 1.13

Component of the following Super Panels:

  • Vascular Malformations SuperPanel

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

    Green PTPN14 in Lymphoedema

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 0.32

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

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

    Amber PTPN14 in Choanal atresia


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.6

    		1 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 1.542

    		1 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