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  2. Vascular Malformations_Germline
  3. PTPN14
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Vascular Malformations_Germline

Gene: PTPN14

Red List (low evidence)
PTPN14 (protein tyrosine phosphatase, non-receptor type 14)
EnsemblGeneIds (GRCh38): ENSG00000152104
EnsemblGeneIds (GRCh37): ENSG00000152104
OMIM: 603155, Gene2Phenotype
PTPN14 is in 6 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Comment on list classification: No evidence for vascular malformations. The gene has been added to the lymphoedema panel.
Created: 24 Jan 2020, 4:24 a.m. | Last Modified: 24 Jan 2020, 4:24 a.m.
Panel Version: 0.55
Has been reported as a modifier of hereditary haemorrhagic telangiectasia in one study, but has not been replicated. Biallelic variants cause choanal atresia and lymphedema.
Created: 24 Jan 2020, 4:22 a.m. | Last Modified: 24 Jan 2020, 4:22 a.m.
Panel Version: 0.54

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 24 Jan 2020, 4:22 a.m.
Last Modified: 24 Jan 2020, 4:22 a.m.
Panel version: 0.54

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Choanal atresia and lymphedema 613611
OMIM
603155
Clinvar variants
Variants in PTPN14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Jun 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PTPN14 were set to

24 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ptpn14 has been classified as Red List (Low Evidence).

24 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ptpn14 has been classified as Red List (Low Evidence).

21 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ptpn14 has been classified as Green List (High Evidence).

21 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: PTPN14 was added gene: PTPN14 was added to Inherited Vascular Malformations. Sources: Expert list Mode of inheritance for gene: PTPN14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PTPN14 were set to Choanal atresia and lymphedema 613611 Review for gene: PTPN14 was set to GREEN