CUL1

cullin 1
OMIM: 603134, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber CUL1 in Severe microcephaly


Level 2: Neurology
Version 9.52
Latest signed off version: v9.13 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • microcephaly, MONDO:0001149
Amber CUL1 in Intellectual disability


Level 2: Developmental disorders
Version 11.67
Latest signed off version: v11.0 (12 Aug 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    Tags
    • Q4_26_promote_green