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| Hereditary Neuropathy_CMT - isolated v1.61 | PLEKHG5 | Zornitza Stark Phenotypes for gene: PLEKHG5 were changed from HMSN, dHMN/dSMA; Charcot-Marie-Tooth disease, recessive intermediate C, MIM# 615376; Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067 to hereditary peripheral neuropathy MONDO:0020127, PLEKHG5-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.60 | PLEKHG5 | Zornitza Stark edited their review of gene: PLEKHG5: Added comment: Lumped by ClinGen.; Changed phenotypes: hereditary peripheral neuropathy MONDO:0020127, PLEKHG5-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.202 | PLEKHG5 | Zornitza Stark Marked gene: PLEKHG5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.202 | PLEKHG5 | Zornitza Stark Gene: plekhg5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.202 | PLEKHG5 | Zornitza Stark Phenotypes for gene: PLEKHG5 were changed from HMSN, dHMN/dSMA; Charcot Marie Tooth disease, recessive intermediate C, 615376; Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 to HMSN, dHMN/dSMA; Charcot-Marie-Tooth disease, recessive intermediate C, MIM# 615376; Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.201 | PLEKHG5 | Zornitza Stark Publications for gene: PLEKHG5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.200 | PLEKHG5 | Zornitza Stark reviewed gene: PLEKHG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 17564964, 23777631, 23844677, 33492783, 33275839, 33220101, 23777631; Phenotypes: Charcot-Marie-Tooth disease, recessive intermediate C, MIM# 615376, Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.0 | PLEKHG5 |
Bryony Thompson gene: PLEKHG5 was added gene: PLEKHG5 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PLEKHG5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLEKHG5 were set to HMSN, dHMN/dSMA; Charcot Marie Tooth disease, recessive intermediate C, 615376; Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 |
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