SKOR2:Ensemblv90

SKI family transcriptional corepressor 2
OMIM: 617138, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green SKOR2 in Mendeliome


Version 1.3802

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Valence-Farazi cerebellar ataxia syndrome, MIM# 621386

Green SKOR2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Valence-Farazi cerebellar ataxia syndrome, MIM# 621386

Green SKOR2 in Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 1.162

Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Valence-Farazi cerebellar ataxia syndrome, MIM# 621386

    Green SKOR2 in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Valence-Farazi cerebellar ataxia syndrome, MIM# 621386