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| Ataxia and cerebellar anomalies - narrow panel v8.81 | SKOR2 | Ida Ertmanska changed review comment from: Comment on list classification: There are more than 3 unrelated individuals with biallelic SKOR2 variants and childhood onset ataxia and /or evidence of cerebellar anomalies on MRI. Hence, this gene should be promoted to Green at the next update.; to: Comment on list classification: There are more than 3 unrelated individuals reported with biallelic SKOR2 variants and childhood onset ataxia and /or evidence of cerebellar anomalies on MRI. Hence, this gene should be promoted to Green at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v8.81 | SKOR2 | Ida Ertmanska Classified gene: SKOR2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v8.81 | SKOR2 | Ida Ertmanska Added comment: Comment on list classification: There are more than 3 unrelated individuals with biallelic SKOR2 variants and childhood onset ataxia and /or evidence of cerebellar anomalies on MRI. Hence, this gene should be promoted to Green at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v8.81 | SKOR2 | Ida Ertmanska Gene: skor2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v8.80 | SKOR2 |
Ida Ertmanska gene: SKOR2 was added gene: SKOR2 was added to Ataxia and cerebellar anomalies - narrow panel. 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 Added comment: 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 |
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