| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v2.0 | NCOR1 | Gene migrated from ENSG00000141027 to ENSG00000141027 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4998 | NCOR1 | Bryony Thompson Marked gene: NCOR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4998 | NCOR1 | Bryony Thompson Gene: ncor1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4998 | NCOR1 | Bryony Thompson Classified gene: NCOR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4998 | NCOR1 | Bryony Thompson Gene: ncor1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4997 | NCOR1 |
Bryony Thompson gene: NCOR1 was added gene: NCOR1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: NCOR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NCOR1 were set to 32034166; 31849593; 30664766; 30289594; 29483668 Phenotypes for gene: NCOR1 were set to complex neurodevelopmental disorder, MONDO:0100038 Review for gene: NCOR1 was set to GREEN Added comment: Monallelic association is green and biallelic association is red Four unrelated families described in PMID 30289594, PMID 30664766 and PMID 31849593 each harbour de novo loss‑of‑function NCOR1 variants (splice‑site or stop‑gain or CNV) presenting with neurodevelopmental abnormalities ranging from autism, intellectual disability and epilepsy to lethal anencephaly, supporting NCOR1 haploinsufficiency as a cause of a complex neurodevelopmental disorder. PMID 29483668 reports a single recessive case with intellectual disability, joint hyperlaxity and thin skin, with a missense variant that is too common to be associated with dominant disease and a 17p11.2p12 deletion which includes NCOR1. PMID 32034166 describes an isolated case of ketotic hypoglycaemia, but these phenotypes lack sufficient genetic or functional evidence for diagnostic classification. Sources: Literature |
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