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  2. Choanal atresia
  3. PTPN14
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Choanal atresia

Gene: PTPN14

Amber List (moderate 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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families reported.
Created: 26 Mar 2021, 9:24 p.m. | Last Modified: 26 Mar 2021, 9:24 p.m.
Panel Version: 0.18

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Choanal atresia and lymphoedema, MIM# 613611

Publications

  • 20826270
  • https://doi.org/10.1016/j.mgene.2017.07.006

Created: 26 Mar 2021, 9:24 p.m.
Last Modified: 26 Mar 2021, 9:24 p.m.
Panel version: 0.21

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Choanal atresia and lymphoedema, MIM#613611
  • MONDO:0013324
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

26 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ptpn14 has been classified as Amber List (Moderate Evidence).

26 Mar 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PTPN14 were changed from Choanal atresia and lymphedema, 613611 to Choanal atresia and lymphoedema, MIM#613611; MONDO:0013324

26 Mar 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PTPN14 were set to 20826270

26 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ptpn14 has been classified as Amber List (Moderate Evidence).

25 Mar 2021, Gel status: 1

Added New Source, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Source Genomics England PanelApp was added to PTPN14. Added phenotypes Choanal atresia and lymphedema, 613611 for gene: PTPN14

25 Mar 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PTPN14 was added gene: PTPN14 was added to Choanal atresia. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red Mode of inheritance for gene: PTPN14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTPN14 were set to 20826270 Phenotypes for gene: PTPN14 were set to Choanal atresia and lymphedema, 613611