| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v0.10992 | 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 Charcot-Marie-Tooth disease, demyelinating, type 1I, MIM# 619742; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 614381 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10991 | POLR3B | Zornitza Stark edited their review of gene: POLR3B: Changed phenotypes: Charcot-Marie-Tooth disease, demyelinating, type 1I, MIM# 619742, Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 614381; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6184 | POLR3B | Zornitza Stark changed review comment from: Ataxia is a presenting feature.; to: Bi-allelic variants are associated with leukodystrophy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6184 | POLR3B | Zornitza Stark Marked gene: POLR3B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6184 | POLR3B | Zornitza Stark Gene: polr3b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6184 | POLR3B | Zornitza Stark Phenotypes for gene: POLR3B were changed from to Ataxia, spasticity, and demyelinating neuropathy; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6183 | POLR3B | Zornitza Stark Publications for gene: POLR3B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6182 | POLR3B | Zornitza Stark Mode of inheritance for gene: POLR3B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6171 | POLR3B | Elena Savva reviewed gene: POLR3B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33417887, 22036171, 22036172; Phenotypes: Ataxia, spasticity, and demyelinating neuropathy, Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | POLR3B |
Zornitza Stark gene: POLR3B was added gene: POLR3B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POLR3B was set to Unknown |
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