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| Childhood onset hereditary spastic paraplegia v8.48 | NFU1 | Achchuthan Shanmugasundram Classified gene: NFU1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v8.48 | NFU1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are patients from at least nine unrelated families reported with childhood-onset hereditary spastic paraplegia and with biallelic NFU1 variants. Hence, this gene should be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v8.48 | NFU1 | Achchuthan Shanmugasundram Gene: nfu1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v8.47 | NFU1 |
Achchuthan Shanmugasundram gene: NFU1 was added gene: NFU1 was added to Childhood onset hereditary spastic paraplegia. Sources: Literature Q2_26_promote_green tags were added to gene: NFU1. Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFU1 were set to 36256512 Phenotypes for gene: NFU1 were set to Spastic paraplegia 93, autosomal recessive, OMIM:620938; spastic paraplegia 93, autosomal recessive, MONDO:0975796 Review for gene: NFU1 was set to GREEN Added comment: PMID:36256512 (2022) reported 19 affected individuals from 10 independent families with nine different biallelic NFU1 missense variants. They are associated with a spectrum of early-onset pure to complex hereditary spastic paraplegia (HSP) phenotype with a longer survival (16/19) on one end and neurodevelopmental delay with severe hypotonia (3/19) on the other. Gait acquisition was delayed due to either the insidious onset of limb spasticity in 13/19 individuals or spasticity precipitated by a deterioration in the context of a febrile illness in 4/19 individuals (Fig. 1B). The lower limb spasticity was detected at a mean age of 12 ± 6 months in the cohort. Spasticity was progressive leading to contractures in 13/19 persons and necessitating Achilles' tendon repair surgery in 4/19 affected individuals. This gene has been associated with relevant phenotype in OMIM (MIM #620938), which was last accessed on 14 April 2026. Sources: Literature |
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