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| Mendeliome v1.3658 | CUL1 | Zornitza Stark Marked gene: CUL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3658 | CUL1 | Zornitza Stark Gene: cul1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3658 | CUL1 | Zornitza Stark Classified gene: CUL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3658 | CUL1 | Zornitza Stark Gene: cul1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3655 | CUL1 |
Sarah Milton gene: CUL1 was added gene: CUL1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CUL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CUL1 were set to PMID: 41189326 Phenotypes for gene: CUL1 were set to Neurodevelopmental disorder, MONDO:0700092, CUL1-related Review for gene: CUL1 was set to GREEN Added comment: CUL1 encodes Cullin 1 and is part of the SCF ubiquitin ligase complex which is involved in protein degradation and cell cycle progression. Other Cullin proteins have previously been implicated in neurodevelopmental disorders e.g. CUL3 PMID: 41189326 describes 4 probands with microcephaly (postnatal in 3 out of 4), severe ID, seizures (2/4) and variable dysmorphic features. Variant types include nonsense, missense and splice with proposed LOF mechanism. One individual inherited the variant from an affected mother with a slightly milder phenotype. All variants were very rare (1 het) or absent from gnomAD v4. CUL1 is under LOF constraint with very few NMD predicted variants in the population. The paper described supportive zebrafish studies showing knockout models had reduced forebrain proportion and abnormal growth. Sources: Literature |
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