Genomics England
GMS Panels
Panels
Genes and Entities

PTPN14

protein tyrosine phosphatase, non-receptor type 14
OMIM: 603155
PanelMode of inheritanceDetails
2 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Choanal atresia and lymphedema, OMIM:613611, Lymphedema-posterior choanal atresia syndrome, MONDO:0013324
Green
in Primary lymphoedema
R-numbers: R136
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Choanal atresia and lymphedema, 613611