| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v2.288 | KDM8 | Bryony Thompson Marked gene: KDM8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.288 | KDM8 | Bryony Thompson Gene: kdm8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.288 | KDM8 | Bryony Thompson Classified gene: KDM8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.288 | KDM8 | Bryony Thompson Gene: kdm8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.287 | KDM8 |
Bryony Thompson gene: KDM8 was added gene: KDM8 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: KDM8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KDM8 were set to 36795492 Phenotypes for gene: KDM8 were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: KDM8 was set to AMBER Added comment: Fletcher2023 reports 3 individuals from 2 families with biallelic loss-of-function KDM8 variants presenting with a severe neurodevelopmental disorder characterised by intra‑uterine and post‑natal growth failure, intellectual disability, facial dysmorphism, relative macrocephaly and growth delay. Patient fibroblast assays reveal replication‑stress phenotypes that are rescued by wild‑type KDM8. Sources: Literature |
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