| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.109 | POLR3B | Bryony Thompson Marked gene: POLR3B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.109 | POLR3B | Bryony Thompson Gene: polr3b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.109 | POLR3B | Bryony Thompson Classified gene: POLR3B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.109 | POLR3B | Bryony Thompson Gene: polr3b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.108 | POLR3B |
Bryony Thompson gene: POLR3B was added gene: POLR3B was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: POLR3B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: POLR3B were set to 39178560; 38002527; 35434302; 35395209; 33417887; 27029625; 26204956 Disease associations for gene: POLR3B were set to POLR3B-related disorder, MONDO:0700277; leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MONDO:0013722 Review for gene: POLR3B was set to GREEN Added comment: POLR3B encodes the second‑largest catalytic subunit of RNA polymerase III. Heterozygous de novo missense variants cause an autosomal‑dominant neurodevelopmental disorder characterised by spasticity, cerebellar ataxia, demyelinating peripheral neuropathy and, in many cases, early‑onset myoclonic epilepsy (dominant‑negative effect). Biallelic loss‑of‑function variants cause the recessive 4H syndrome (hypomyelination, spastic‑ataxic gait, hypogonadotropic hypogonadism and growth‑hormone deficiency). Sources: Literature |
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