Choanal atresia
Gene: PTPN14
PTPN14 (protein tyrosine phosphatase, non-receptor type 14)
EnsemblGeneIds (GRCh38): ENSG00000152104
EnsemblGeneIds (GRCh37): ENSG00000152104
OMIM: 603155, Gene2Phenotype
PTPN14 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000152104
EnsemblGeneIds (GRCh37): ENSG00000152104
OMIM: 603155, Gene2Phenotype
PTPN14 is in 4 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Only one variant reportedCreated: 10 Aug 2016, 2:17 p.m.
Jill Clayton-Smith (Manchester Centre For Genomic Medicine)
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 neededCreated: 13 Oct 2015, 11:18 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
choanal atresia, lymphoedema
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Choanal atresia and lymphedema, 613611
- OMIM
- 603155
- Clinvar variants
- Variants in PTPN14
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
11 Aug 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1, 11th August 2016
10 Aug 2016, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
10 Aug 2016, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for PTPN14 were set to 20826270
10 Aug 2016, Gel status: 1
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for PTPN14 was changed to BIALLELIC, autosomal or pseudoautosomal
28 Apr 2015, Gel status: 1
Added New Source
GEL ()PTPN14 was added to Choanal atresiapanel. Sources: Radboud University Medical Center, Nijmegen