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 2.0

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 2.0

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 1.0

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 2.0

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 2.0

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