Hereditary spastic paraplegia - childhood onsetGene: RNU7-1
Comment on list classification: Rating Amber but should be promoted to Green at the next GMS panel update (added 'for-review' tag) - spasticity (with or without dystonia) was a feature in all 11 families reported with biallelic variants in this gene (PMID:33230297)
Created: 25 Jan 2021, 5:47 p.m. | Last Modified: 25 Jan 2021, 5:47 p.m.
Panel Version: 2.25
Not associated with any phenotype in OMIM or Gene2Phenotype.
- PMID: 33230297 (2020) - 16 individuals from 11 families with biallelic variants in the RNU7-1 gene. Clinical features were typical of Aicardi–Goutières syndrome, including spasticity, dystonia, epilepsy, peripheral neuropathy, brain calcification, mild skin involvement and delayed psychomotor development. Upregulated interferon signalling was detected in patient blood and fibroblasts. 4/12 variants were observed in 2 or more families - several from different ethnic backgrounds. 8 variants are recorded in gnomAD but at a frequency of ≤0.005, and no biallelic variants were identified in control populations. Some functional data showing a disturbance of histone RNA processing in patient-derived compared to control fibroblasts.
Created: 25 Jan 2021, 5:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Type I interferonopathy; Aicardi-Goutières syndrome
Gene: rnu7-1 has been classified as Amber List (Moderate Evidence).
gene: RNU7-1 was added gene: RNU7-1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature for-review tags were added to gene: RNU7-1. Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU7-1 were set to 33230297 Phenotypes for gene: RNU7-1 were set to Type I interferonopathy; Aicardi-Goutières syndrome Review for gene: RNU7-1 was set to GREEN