Lymphoedema_nonsyndromic
Gene: PTPN14EnsemblGeneIds (GRCh38): ENSG00000152104
EnsemblGeneIds (GRCh37): ENSG00000152104
OMIM: 603155, Gene2Phenotype
PTPN14 is in 6 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Two unrelated consanguineous middle eastern families reported with choanal atresia and lymphedema, and different homozygous variants. The Ptpn14-/- mouse model manifects lymphatic hyperplasia with lymphedema.
Sources: Expert listCreated: 24 Jan 2020, 4:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Choanal atresia and lymphedema MIM#613611
Publications
- 20826270
- https://doi.org/10.1016/j.mgene.2017.07.006
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Choanal atresia and lymphedema MIM#613611
- OMIM
- 603155
- Clinvar variants
- Variants in PTPN14
- Penetrance
- None
- Publications
-
- 20826270
- https://doi.org/10.1016/j.mgene.2017.07.006
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ptpn14 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ptpn14 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PTPN14 was added gene: PTPN14 was added to Lymphoedema. Sources: Expert list Mode of inheritance for gene: PTPN14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTPN14 were set to 20826270; https://doi.org/10.1016/j.mgene.2017.07.006 Phenotypes for gene: PTPN14 were set to Choanal atresia and lymphedema MIM#613611 Review for gene: PTPN14 was set to GREEN