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Haematological malignancies cancer susceptibility

Gene: PTPN13

Amber List (moderate evidence)
PTPN13 (protein tyrosine phosphatase, non-receptor type 13)
EnsemblGeneIds (GRCh38): ENSG00000163629
EnsemblGeneIds (GRCh37): ENSG00000163629
OMIM: 600267, Gene2Phenotype
PTPN13 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Rating Amber as only 2 unrelated cases reported to date with germline variants in PTPN13, presenting with ALL (PMID: 35643866). Not associated with any phenotype in OMIM but has been classified 'moderate' for 'PTPN13 related predisposition to bone marrow failure' in G2P. Adding watchlist tag to monitor for additional cases that corroborate this gene-disease association before promoting to green.
Created: 14 Nov 2024, 3:17 p.m. | Last Modified: 14 Nov 2024, 3:17 p.m.
Panel Version: 4.6
Created: 14 Nov 2024, 3:17 p.m.
Last Modified: 14 Nov 2024, 3:17 p.m.
Panel version: 4.6

Dmitrijs Rots (Children's Clinical University Hospital)

I don't know

PMID: 35643866 described two families with biallelic PTPN13 and bone marrow failure and acute lymphoblastic leukemia and some functional evidence. In gnomAD (under variant co-occurence) no rare truncating and strong missense in comp het or homozygous states.
Sources: Literature
Created: 24 Aug 2023, 7:18 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
bone marrow failure and acute lymphoblastic leukemia

Publications

Created: 24 Aug 2023, 7:18 p.m.

Panel version: 4.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • bone marrow failure and acute lymphoblastic leukemia
Tags
watchlist
OMIM
600267
Clinvar variants
Variants in PTPN13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Nov 2024, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to gene: PTPN13.

14 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ptpn13 has been classified as Amber List (Moderate Evidence).

24 Aug 2023, Gel status: 0

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

Dmitrijs Rots (Children's Clinical University Hospital)

gene: PTPN13 was added gene: PTPN13 was added to Haematological malignancies cancer susceptibility. Sources: Literature Mode of inheritance for gene: PTPN13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTPN13 were set to PMID: 35643866 Phenotypes for gene: PTPN13 were set to bone marrow failure and acute lymphoblastic leukemia Review for gene: PTPN13 was set to AMBER