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| Childhood onset hereditary spastic paraplegia v8.10 | TNR | Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to rate this gene GREEN at the next major review - at least 7 unrelated cases with cognitive impairment associated with variants in this gene.; to: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update. Spastic para- or tetraparesis, apparent from infancy or early childhood, was reported in 13/15 individuals with biallelic variants in this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v8.10 | TNR | Arina Puzriakova Entity copied from Intellectual disability v9.92 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v8.10 | TNR |
Arina Puzriakova gene: TNR was added gene: TNR was added to Childhood onset hereditary spastic paraplegia. Sources: Expert list,Expert Review Amber Q3_25_promote_green tags were added to gene: TNR. Mode of inheritance for gene: TNR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNR were set to 28334938; 32099069 Phenotypes for gene: TNR were set to Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, OMIM:619653 |
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