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| Hereditary Neuropathy - complex v0.120 | POLR3B | Zornitza Stark Phenotypes for gene: POLR3B were changed from Ataxia, spasticity, and demyelinating neuropathy to Charcot-Marie-Tooth disease, demyelinating, type 1I, MIM# 619742 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.119 | POLR3B | Zornitza Stark edited their review of gene: POLR3B: Changed rating: GREEN; Changed phenotypes: Charcot-Marie-Tooth disease, demyelinating, type 1I, MIM# 619742; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.104 | POLR3B | Zornitza Stark Marked gene: POLR3B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.104 | POLR3B | Zornitza Stark Added comment: Comment when marking as ready: Note bi-allelic variants in this gene cause a leukodystrophy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.104 | POLR3B | Zornitza Stark Gene: polr3b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.104 | POLR3B | Zornitza Stark Phenotypes for gene: POLR3B were changed from Ataxia, spasticity, and demyelinating neuropathy; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381 to Ataxia, spasticity, and demyelinating neuropathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.103 | POLR3B | Zornitza Stark Mode of inheritance for gene: POLR3B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.102 | POLR3B | Zornitza Stark Classified gene: POLR3B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.102 | POLR3B | Zornitza Stark Gene: polr3b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.101 | POLR3B |
Elena Savva gene: POLR3B was added gene: POLR3B was added to Hereditary Neuropathy - complex. 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 PMID: 33417887 Phenotypes for gene: POLR3B were set to Ataxia, spasticity, and demyelinating neuropathy; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381 Review for gene: POLR3B was set to GREEN Added comment: PMID: 33417887: Six unrelated individuals with de novo missense variants. Patients had ataxia, spasticity, variable intellectual disability and epilepsy, and predominantly demyelinating sensory motor peripheral neuropathy. Protein modeling and proteomic analysis shows variants caused aberrant association of individual enzyme subunits rather than affecting overall enzyme assembly or stability. Sources: Literature |
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