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  3. PTPRO
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Proteinuria

Gene: PTPRO

Green List (high evidence)
PTPRO (protein tyrosine phosphatase, receptor type O)
EnsemblGeneIds (GRCh38): ENSG00000151490
EnsemblGeneIds (GRCh37): ENSG00000151490
OMIM: 600579, Gene2Phenotype
PTPRO is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families reported.
Created: 14 Apr 2022, 10:32 a.m. | Last Modified: 14 Apr 2022, 10:32 a.m.
Panel Version: 0.187

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome, type 6, MIM# 614196

Publications

Created: 14 Apr 2022, 10:32 a.m.
Last Modified: 14 Apr 2022, 10:32 a.m.
Panel version: 0.187

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephrotic syndrome, type 6, MIM# 614196
OMIM
600579
Clinvar variants
Variants in PTPRO
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PTPRO were changed from to Nephrotic syndrome, type 6, MIM# 614196

14 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PTPRO were set to

14 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PTPRO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PTPRO was added gene: PTPRO was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PTPRO was set to Unknown