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  3. SKOR2
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Fetal anomalies

Gene: SKOR2

Green List (high evidence)
SKOR2 (SKI family transcriptional corepressor 2)
EnsemblGeneIds (GRCh38): ENSG00000215474
EnsemblGeneIds (GRCh37): ENSG00000215474
OMIM: 617138, Gene2Phenotype
SKOR2 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

9 patients from 2 unrelated families plus further unrelated case; unclear whether hypotonia would present antenatally but posterior fossa & CC abn. Reported
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar hypoplasia, neurodevelopmental delay

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cerebellar hypoplasia, neurodevelopmental delay
OMIM
617138
Clinvar variants
Variants in SKOR2
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Cerebellar hypoplasia, neurodevelopmental delay for gene: SKOR2

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: SKOR2 was added gene: SKOR2 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: SKOR2 was set to BIALLELIC, autosomal or pseudoautosomal