Genomics England
GMS Panels
Panels
Genes and Entities

SKOR2

SKI family transcriptional corepressor 2
OMIM: 617138
PanelMode of inheritanceDetails
1 panel
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar hypoplasia, neurodevelopmental delay, Valence-Farazi cerebellar ataxia syndrome, OMIM: 621386, Valence-Farazi cerebellar ataxia syndrome, MONDO:0980707