Intellectual disability
Gene: SKOR2

SKOR2 (SKI family transcriptional corepressor 2)
EnsemblGeneIds (GRCh38): ENSG00000215474
EnsemblGeneIds (GRCh37): ENSG00000215474
OMIM: 617138, Gene2Phenotype
SKOR2 is in 3 panels

1 review

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There are more than 3 unrelated individuals reported with biallelic SKOR2 variants and syndromic intellectual disability / developmental delay. Hence, this gene should be promoted to Green at the next update. Though the intellectual disability was generally mild, addition to this panel also ensures inclusion on R27 Paediatric disorders.
Created: 21 Apr 2026, 5:07 p.m. | Last Modified: 21 Apr 2026, 5:07 p.m.

Panel Version: 9.389

PMID: 29997391 Valence et al., 2019
Patient P15 - 10yo female, consanguineous Turkish parents; she presented with neonatal hypotonia and psychomotor delay; at age 10, she had scoliosis, nystagmus, mild ID, and a nonprogressive ataxia with ataxic gait. She was homozygous for SKOR2 variant NM_001278063.1: c.2750C>G; p.Ser917*. Cerebellar dysplasia seen on brain MRI.

PMID: 40890458 Farazi Fard et al., 2025
9 patients from 2 unrelated consanguineous Iranian families:
Family 1 - 8 affected individuals homozygous for SKOR2 c.374G>C, p.Arg125Pro variant; ataxia present in 6/8 individuals, cerebellar hypoplasia in 8/8. Other phenotypes: scoliosis (5/8), strabismus (4/8), and other more variable features.
Family 2 - affected 6yo female proband homozygous for SKOR2 c.1271_1274del, p.Lys424Argfs*71 variant; she had strabismus, hypotonia, cerebellar hypoplasia, and osteomalacia, but no ataxia reported.

PMID: 41821366 Abu-El-Haija et al., 2026 - Online ahead of print
Report of eight individuals from five unrelated families (from Iraq, Turkey, Pakistan, Morocco, and South East Asia) with biallelic variants in SKOR2 associated with a phenotypic spectrum of cerebellar hypoplasia, microcephaly, ataxia, developmental delays and intellectual disability. Disease with childhood-onset, consanguinity reported in 7/8 individuals. Ataxic gait noted in 4 individuals, generally delayed walking age (>2 years in 6 cases).
Intellectual disability was present in 5/5 individuals assessed (4 mild, IQ = 55-58, and 1 case with severe ID). Cerebellar anomalies noted on brain MRI in 6/6 patients, including cerebellar hypoplasia /atrophy in 4 cases. Scoliosis / kyphosis noted in 3 patients.
Sources: Literature
Created: 21 Apr 2026, 5:04 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Valence-Farazi cerebellar ataxia syndrome, OMIM: 621386; Valence-Farazi cerebellar ataxia syndrome, MONDO:0980707

Publications

Created: 21 Apr 2026, 5:04 p.m.

Panel version: 9.388

Details

Mode of Inheritance

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

OMIM

617138

Clinvar variants

Variants in SKOR2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

21 Apr 2026, Gel status: 2

Entity classified by Genomics England curator

Ida Ertmanska (Genomics England Curator)

Gene: skor2 has been classified as Amber List (Moderate Evidence).

21 Apr 2026, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Ida Ertmanska (Genomics England Curator)

gene: SKOR2 was added gene: SKOR2 was added to Intellectual disability. Sources: Literature Q2_26_promote_green tags were added to gene: SKOR2. Mode of inheritance for gene: SKOR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SKOR2 were set to 29997391; 40890458; 41821366 Phenotypes for gene: SKOR2 were set to Valence-Farazi cerebellar ataxia syndrome, OMIM: 621386; Valence-Farazi cerebellar ataxia syndrome, MONDO:0980707 Review for gene: SKOR2 was set to GREEN

Intellectual disability Gene: SKOR2