Choanal atresiaGene: PTPN14
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Only one variant reported
Created: 10 Aug 2016, 2:17 p.m.
based on mapping in a single consanguineous family
mouse model does not have choanal atresia. Seems likely that this is associeted with choanal atresia but further cases /confirmation needed
Created: 13 Oct 2015, 11:18 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
choanal atresia, lymphoedema
Promoted to version 1, 11th August 2016
This gene has been classified as Red List (Low Evidence).
Publications for PTPN14 were set to 20826270
Mode of inheritance for PTPN14 was changed to BIALLELIC, autosomal or pseudoautosomal
PTPN14 was added to Choanal atresiapanel. Sources: Radboud University Medical Center, Nijmegen