GEMIN5

gem nuclear organelle associated protein 5
OMIM: 607005, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green GEMIN5 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.65

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM # 619333

Green GEMIN5 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, MIM# 619333

Green GEMIN5 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, MIM# 619333

Green GEMIN5 in Ataxia - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.26

Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM # 619333