| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.65 | ELOVL4 | Bryony Thompson Marked gene: ELOVL4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.65 | ELOVL4 | Bryony Thompson Gene: elovl4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.65 | ELOVL4 | Bryony Thompson Classified gene: ELOVL4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.65 | ELOVL4 | Bryony Thompson Gene: elovl4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.64 | ELOVL4 |
Bryony Thompson gene: ELOVL4 was added gene: ELOVL4 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: ELOVL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ELOVL4 were set to 37592902; 33652762 Phenotypes for gene: ELOVL4 were set to congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome, MONDO:0013760 Review for gene: ELOVL4 was set to GREEN Added comment: PMID 37592902 reports eight individuals from four families and PMID 33652762 reports two individuals from two families with biallelic ELOVL4 variants presenting with congenital ichthyosis, spastic quadriplegia and intellectual disability. Sources: Literature |
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