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| Severe microcephaly v9.52 | CUL1 | Ida Ertmanska changed review comment from: Comment on list classification: There are now 4 unrelated individuals with heterozygous variants in CUL1 and a neurodevelopmental disorder, including microcephaly. However, these cases do not meet the threshold for severe microcepahly (OFC more than -3 SD below mean, or <0.4 pct). Hence, CUL1 can only be rated Amber on Severe microcephaly.; to: Comment on list classification: There are now 4 unrelated individuals with heterozygous variants in CUL1 and a neurodevelopmental disorder, including microcephaly. However, these cases do not meet the threshold for severe microcephaly (OFC more than -3 SD below mean, or <0.4 pct). Hence, CUL1 can only be rated Amber on Severe microcephaly. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v9.52 | CUL1 | Ida Ertmanska Tag Q4_26_promote_green was removed from gene: CUL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v9.52 | CUL1 | Ida Ertmanska changed review comment from: Comment on list classification: There are now 4 unrelated individuals with heterozygous variants in CUL1 and a neurodevelopmental disorder, including 3 cases with severe microcephaly. Hence, CUL1 can be promoted to Green on Intellectual disability.; to: Comment on list classification: There are now 4 unrelated individuals with heterozygous variants in CUL1 and a neurodevelopmental disorder, including microcephaly. However, these cases do not meet the threshold for severe microcepahly (OFC more than -3 SD below mean, or <0.4 pct). Hence, CUL1 can only be rated Amber on Severe microcephaly. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v9.52 | CUL1 | Ida Ertmanska edited their review of gene: CUL1: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v9.51 | CUL1 |
Ida Ertmanska changed review comment from: PMID: 41189326 Xu et al., 2025 Study identified heterozygous de novo and inherited variants in the CUL1 gene in four unrelated families with severe microcephaly, ID and developmental delays (severe in 3 probands). OFC was <1st percentile in 3 families and <3rd percentile in the fourth family. Infantile spasms were reported in 2 probands. Variants identifier: p.Gln607*, p.Met450Leu, p.(Arg273∗), and c.483+1G>A. Method: Trio exome seq. Functional evidence: developed a zebrafish model with knockdown of cul1a&b, which exhibited significant reductions in central nervous system size and behavioral defects, mirroring the clinical phenotypes observed in patients. Sources: Literature; to: PMID: 41189326 Xu et al., 2025 Study identified heterozygous de novo and inherited variants in the CUL1 gene in four unrelated families with severe microcephaly, ID and developmental delays (severe in 3 probands). OFC was <1st percentile in 3 families and <3rd percentile in the fourth family. Infantile spasms were reported in 2 probands. Variants identifier: p.Gln607*, p.Met450Leu, p.(Arg273∗), and c.483+1G>A. Method: Trio exome seq. Functional evidence: developed a zebrafish model with knockdown of cul1a&b, which exhibited significant reductions in central nervous system size and behavioral defects, mirroring the clinical phenotypes observed in patients. CUL1 is not yet associated with a disease entity in OMIM (accessed 27th Oct 2026). Sources: Literature |
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| Severe microcephaly v9.51 | CUL1 | Ida Ertmanska Phenotypes for gene: CUL1 were changed from neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental disorder, MONDO:0700092; microcephaly, MONDO:0001149 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v9.50 | CUL1 | Ida Ertmanska Classified gene: CUL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v9.50 | CUL1 | Ida Ertmanska Added comment: Comment on list classification: There are now 4 unrelated individuals with heterozygous variants in CUL1 and a neurodevelopmental disorder, including 3 cases with severe microcephaly. Hence, CUL1 can be promoted to Green on Intellectual disability. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v9.50 | CUL1 | Ida Ertmanska Gene: cul1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v9.49 | CUL1 |
Ida Ertmanska gene: CUL1 was added gene: CUL1 was added to Severe microcephaly. Sources: Literature Q4_26_promote_green tags were added to gene: CUL1. Mode of inheritance for gene: CUL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CUL1 were set to 41189326 Phenotypes for gene: CUL1 were set to neurodevelopmental disorder, MONDO:0700092 Review for gene: CUL1 was set to GREEN Added comment: PMID: 41189326 Xu et al., 2025 Study identified heterozygous de novo and inherited variants in the CUL1 gene in four unrelated families with severe microcephaly, ID and developmental delays (severe in 3 probands). OFC was <1st percentile in 3 families and <3rd percentile in the fourth family. Infantile spasms were reported in 2 probands. Variants identifier: p.Gln607*, p.Met450Leu, p.(Arg273∗), and c.483+1G>A. Method: Trio exome seq. Functional evidence: developed a zebrafish model with knockdown of cul1a&b, which exhibited significant reductions in central nervous system size and behavioral defects, mirroring the clinical phenotypes observed in patients. Sources: Literature |
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