This Panel is marked as Retired
Meiges disease
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
Pia Ostergaard (St George's)
Mode of inheritance
Unknown
Phenotypes
lymphedema-choanal atresia syndrome
Publications
- [PMID: 20826270]
Richard Scott (Genomics England Curator)
Comment on list classification: Only one family reported to date. Await further published data.Created: 29 Jul 2016, 10:14 p.m.
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
8 Aug 2016, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for PTPN14 were set to 20826270
8 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
29 Jul 2016, Gel status: 1
panel promoted to version 1
Richard Scott (Genomics England Curator)Ready for version 1
29 Jul 2016, Gel status: 1
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
29 Jul 2016, Gel status: 1
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
7 Oct 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PTPN14 was added to Meiges diseasepanel. Sources: Radboud University Medical Center, Nijmegen