PanelApp (test)
  1. Genes and Genomic Entities
  2. GEMIN4:Ensemblv90

GEMIN4:Ensemblv90

gem nuclear organelle associated protein 4
OMIM: 606969, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green GEMIN4 in Cataract


Level 2: Ophthalmological disorders
Version 0.396

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913

Green GEMIN4 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, MIM# 617913

Green GEMIN4 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, MIM# 617913

Green GEMIN4 in Cataract


Level 2: Ophthalmological disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913