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| Hereditary Neuropathy_CMT - isolated v0.193 | LMNA | Zornitza Stark Marked gene: LMNA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.193 | LMNA | Zornitza Stark Gene: lmna has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.193 | LMNA | Zornitza Stark Phenotypes for gene: LMNA were changed from Malouf syndrome, 212112; Heart hand syndrome, Slovenian type, 610140; Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001; Hutchinson Gilford progeria, 176670; Charcot Marie Tooth disease, type 2B1, 605588; Lipodystrophy, familial partial, 2, 151660; Mandibuloacral dysplasia, 248370; Cardiomyopathy, dilated, 1A, 115200; Emery Dreifuss muscular dystrophy 3, AR, 181350; Restrictive dermopathy, lethal, 275210; Emery Dreifuss muscular dystrophy 2, AD, 181350; HMSN to Charcot-Marie-Tooth disease, type 2B1 , MIM#605588 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.192 | LMNA | Zornitza Stark Publications for gene: LMNA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.191 | LMNA | Zornitza Stark Classified gene: LMNA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.191 | LMNA | Zornitza Stark Gene: lmna has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.190 | LMNA |
Zornitza Stark changed review comment from: Founder variant p.Arg298Cys (c.892C>T) reported in 3 families, supportive functional data, plus another case reported as part of a large CMT cohort.; to: Founder variant p.Arg298Cys (c.892C>T) reported in 3 families, supportive functional data, plus another case reported as part of a large CMT cohort Note mono allelic variants in this gene cause a range of phenotypes. |
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| Hereditary Neuropathy_CMT - isolated v0.190 | LMNA | Zornitza Stark reviewed gene: LMNA: Rating: AMBER; Mode of pathogenicity: None; Publications: 11799477, 28902413; Phenotypes: Charcot-Marie-Tooth disease, type 2B1 , MIM#605588; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.0 | LMNA |
Bryony Thompson gene: LMNA was added gene: LMNA was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: LMNA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LMNA were set to Malouf syndrome, 212112; Heart hand syndrome, Slovenian type, 610140; Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001; Hutchinson Gilford progeria, 176670; Charcot Marie Tooth disease, type 2B1, 605588; Lipodystrophy, familial partial, 2, 151660; Mandibuloacral dysplasia, 248370; Cardiomyopathy, dilated, 1A, 115200; Emery Dreifuss muscular dystrophy 3, AR, 181350; Restrictive dermopathy, lethal, 275210; Emery Dreifuss muscular dystrophy 2, AD, 181350; HMSN |
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