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| Cancer Predisposition_Paediatric v0.105 | KDM3B | Zornitza Stark Marked gene: KDM3B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cancer Predisposition_Paediatric v0.105 | KDM3B | Zornitza Stark Gene: kdm3b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cancer Predisposition_Paediatric v0.105 | KDM3B | Zornitza Stark Phenotypes for gene: KDM3B were changed from to Diets-Jongmans syndrome, MIM# 618846; Cancer predisposition | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cancer Predisposition_Paediatric v0.104 | KDM3B | Zornitza Stark Classified gene: KDM3B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cancer Predisposition_Paediatric v0.104 | KDM3B | Zornitza Stark Gene: kdm3b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cancer Predisposition_Paediatric v0.101 | KDM3B |
Laura Raiti gene: KDM3B was added gene: KDM3B was added to Cancer Predisposition_Paediatric. Sources: Literature Mode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KDM3B were set to PMID: 30885698; 29351919 Review for gene: KDM3B was set to GREEN Added comment: PMID: 30885698 2 two de-novo KDM3B mutations identified. - 1 child (missense mutation) with Wilms tumour and a hyperpigmented lesion on her buttock - 1 child (truncating variant) with hepatoblastoma, hyperpigmentation and hypopigmentation, autism, and intellectual disability PMID: 29351919 2 individuals with KDM3B variants - 1 individual had a KDM3B truncating variant with acute myeloid leukaemia, mild intellectual disability, and hip dysplasia - 1 individual had a de novo missense KDM3B with Hodgkins lymphoma and moderate intellectual disability. KDM3B is highly intolerant to both protein-truncating variants (pLI=1·00) and non-synonymous variation (Z=4·99; the Z score is the deviation of observation from expectation for non-synonymous variants). KDM3B is involved in H3K9 demethylation, which is part of chromatin remodeling. Mutations in several components of chromatin remodeling pathways have been found to cause both syndromes characterized by ID and syndromes with cancer predisposition Sources: Literature |
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