GEMIN4

gem nuclear organelle associated protein 4
OMIM: 606969, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green GEMIN4 in Bilateral congenital or childhood onset cataracts


Level 2: Ophthalmology
Version 8.7
Latest signed off version: v8.5 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, OMIM:617913
Green GEMIN4 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.4
Latest signed off version: v8.0 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, OMIM:617913
Green GEMIN4 in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES, OMIM:617913
    Green GEMIN4 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.13
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, OMIM:617913
    Tags
    • founder-effect