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| Hereditary Neuropathy v1.182 | PMP22 | Zornitza Stark Marked gene: PMP22 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v1.182 | PMP22 | Zornitza Stark Gene: pmp22 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v1.182 | PMP22 | Zornitza Stark Phenotypes for gene: PMP22 were changed from Charcot Marie Tooth disease, type 1A, 118220; Roussy Levy syndrome, 180800; Neuropathy, inflammatory demyelinating, 139393; Neuropathy, recurrent, with pressure palsies, 162500; Charcot Marie Tooth disease, type 1E, 118300; Dejerine Sottas disease, 145900; HMSN to Charcot-Marie-Tooth disease, type 1A, MIM# 118220; Charcot-Marie-Tooth disease, type 1E, MIM# 118300; Dejerine-Sottas disease, MIM# 145900; Neuropathy, recurrent, with pressure palsies 162500; Roussy-Levy syndrome 180800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v1.181 | PMP22 | Zornitza Stark Publications for gene: PMP22 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v1.180 | PMP22 | Zornitza Stark Mode of inheritance for gene: PMP22 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v1.179 | PMP22 |
Zornitza Stark edited their review of gene: PMP22: Added comment: Addition of studies to support GREEN AR GDA with PMP22. The reported affected individuals present with infantile/early-onset CMT/ Dejerine‑Sottas disease (which is now known as CMT type 3). AD GDA (GREEN) Classified as Definitive ClinGen CMT GCEP in association with Charcot-Marie-Tooth disease type 1A - https://search.clinicalgenome.org/CCID:005837 Classified as Definitive by ClinGen CMT GCEp in association with hereditary neuropathy with liability to pressure palsies - https://search.clinicalgenome.org/CCID:008314; Changed publications: 32412171, 31777123, 32719652; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Hereditary Neuropathy v1.145 | Bryony Thompson Copied gene PMP22 from panel Hereditary Neuropathy_CMT - isolated | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v1.145 | PMP22 |
Bryony Thompson gene: PMP22 was added gene: PMP22 was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Green,Royal Melbourne Hospital,Victorian Clinical Genetics Services SV/CNV tags were added to gene: PMP22. Mode of inheritance for gene: PMP22 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PMP22 were set to Charcot Marie Tooth disease, type 1A, 118220; Roussy Levy syndrome, 180800; Neuropathy, inflammatory demyelinating, 139393; Neuropathy, recurrent, with pressure palsies, 162500; Charcot Marie Tooth disease, type 1E, 118300; Dejerine Sottas disease, 145900; HMSN |
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