1. Genes and Genomic Entities
  2. SKOR2

SKOR2

SKI family transcriptional corepressor 2
OMIM: 617138, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber SKOR2 in Ataxia and cerebellar anomalies - childhood onset


Level 2: Neurology
Version 9.30
Latest signed off version: v9.22 (12 Aug 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies, childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Valence-Farazi cerebellar ataxia syndrome, OMIM: 621386
    • Valence-Farazi cerebellar ataxia syndrome, MONDO:0980707
    Tags
    • Q2_26_promote_green
    Green SKOR2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Cerebellar hypoplasia, neurodevelopmental delay
    • Valence-Farazi cerebellar ataxia syndrome, OMIM: 621386
    • Valence-Farazi cerebellar ataxia syndrome, MONDO:0980707
    Amber SKOR2 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.25
    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 Amber
    • Literature
    Phenotypes
    • Valence-Farazi cerebellar ataxia syndrome, OMIM: 621386
    • Valence-Farazi cerebellar ataxia syndrome, MONDO:0980707
    Tags
    • Q2_26_promote_green