Activity
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| Haematological malignancies cancer susceptibility v4.19 | NAPRT | Sarah Leigh edited their review of gene: NAPRT: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.19 | NAPRT | Sarah Leigh Mode of inheritance for gene: NAPRT was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.18 | NAPRT | Sarah Leigh edited their review of gene: NAPRT: Added comment: Two monoallelic NAPRT variants have been reported in two unrelated cases with myelodysplastic syndrome (MDS) / acute myeloid leukemia (AML)(PMID: 32098966; https://doi.org/10.1182/blood.V122.21.2803.2803). This is insufficient evidence to warrant a green gene rating.; Changed rating: AMBER; Changed phenotypes to: myelodysplastic syndrome (MDS), acute myeloid leukemia (AML); Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.18 | NAPRT | Sarah Leigh Mode of inheritance for gene: NAPRT was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.17 | NAPRT | Sarah Leigh Classified gene: NAPRT as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.17 | NAPRT | Sarah Leigh Gene: naprt has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.16 | NAPRT | Sarah Leigh Added comment: Comment on publications: https://doi.org/10.1182/blood.V122.21.2803.2803 there is no PMID for this article | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.16 | NAPRT | Sarah Leigh Publications for gene: NAPRT were set to 32098966 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.2 | NAPRT |
Lauma Freimane gene: NAPRT was added gene: NAPRT was added to Haematological malignancies cancer susceptibility. Sources: Literature Mode of inheritance for gene: NAPRT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAPRT were set to 32098966 Phenotypes for gene: NAPRT were set to MDS/AML; inherited bone marrow failure series Review for gene: NAPRT was set to GREEN Added comment: Sources: Literature |
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