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| Haematological malignancies cancer susceptibility v4.6 | PTPN13 | Arina Puzriakova Tag watchlist tag was added to gene: PTPN13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.6 | PTPN13 | Arina Puzriakova Classified gene: PTPN13 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.6 | PTPN13 | Arina Puzriakova Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.6 | PTPN13 | Arina Puzriakova Gene: ptpn13 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.2 | PTPN13 |
Dmitrijs Rots 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 Added comment: 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 |
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