| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hereditary Spastic Paraplegia v2.105 | PEX16 | Bryony Thompson Marked gene: PEX16 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.105 | PEX16 | Bryony Thompson Gene: pex16 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.105 | PEX16 | Bryony Thompson Classified gene: PEX16 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.105 | PEX16 | Bryony Thompson Gene: pex16 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.104 | PEX16 |
Bryony Thompson gene: PEX16 was added gene: PEX16 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX16 were set to 35106698; 30094183; 27679996 Disease associations for gene: PEX16 were set to Zellweger spectrum disorders, MONDO:0019609 Review for gene: PEX16 was set to GREEN Added comment: PMID 35106698 reports 7 individuals from 6 families with biallelic PEX16 variants and early‑onset hereditary spastic paraplegia, cerebellar dysfunction and progressive leuko‑white‑matter disease; PMID 27679996 adds one individual from a homozygous PEX16 in‑frame deletion case with spastic paraplegia and white‑matter abnormalities, and PMID 30094183 contributes one individual with compound heterozygous missense variants and spastic paraplegia with leukodystrophy. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||