1. Panels
  2. Likely inborn error of metabolism
  3. PTPRZ1
Genes in panel
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Likely inborn error of metabolism

Gene: PTPRZ1

Red List (low evidence)
PTPRZ1 (protein tyrosine phosphatase, receptor type Z1)
EnsemblGeneIds (GRCh38): ENSG00000106278
EnsemblGeneIds (GRCh37): ENSG00000106278
OMIM: 176891, Gene2Phenotype
PTPRZ1 is in 2 panels

1 review

Olivia Niblock (Genomics England Curator)

Red List (low evidence)

No relevant phenotype reported with this gene (only susceptability for H. pylori infection) or variants of it (in humans)
Created: 23 Feb 2017, 5:15 p.m.

Mode of inheritance
Unknown

Phenotypes
{H. pylori infection, susceptibility to} 600263

Publications

Created: 23 Feb 2017, 5:15 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Details

Mode of Inheritance
Unknown
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism)
  • {H. pylori infection, susceptibility to} 600263
OMIM
176891
Clinvar variants
Variants in PTPRZ1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PTPRZ1. Source London North GLH was added to PTPRZ1.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: PTPRZ1 was added gene: PTPRZ1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PTPRZ1 was set to Unknown Publications for gene: PTPRZ1 were set to 27604308 Phenotypes for gene: PTPRZ1 were set to Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism); {H. pylori infection, susceptibility to} 600263