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| Hereditary neuropathy v1.80 | LMNA | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.80 | LMNA | Louise Daugherty commented on gene: LMNA: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.63 | LMNA | Louise Daugherty commented on gene: LMNA: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.60 | LMNA |
Louise Daugherty Added phenotypes Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001; Charcot Marie Tooth disease, type 2B1, 605588; Mandibuloacral dysplasia, 248370 Hutchinson Gilford progeria, 176670; Emery Dreifuss muscular dystrophy 2, AD, 181350; Restrictive dermopathy, lethal, 275210 Heart hand syndrome, Slovenian type, 610140 Malouf syndrome, 212112; Lipodystrophy, familial partial, 2, 151660; Emery Dreifuss muscular dystrophy 3, AR, 181350; Cardiomyopathy, dilated, 1A, 115200 for gene: LMNA Publications for gene LMNA were changed from to 11799477 |
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| Hereditary neuropathy v1.58 | LMNA | Natalie Forrester reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: 11799477; Phenotypes: Emery Dreifuss muscular dystrophy 2, AD, 181350, Cardiomyopathy, dilated, 1A, 115200, Charcot Marie Tooth disease, type 2B1, 605588, Emery Dreifuss muscular dystrophy 3, AR, 181350, Restrictive dermopathy, lethal, 275210 Heart hand syndrome, Slovenian type, 610140 Malouf syndrome, 212112, Lipodystrophy, familial partial, 2, 151660, Mandibuloacral dysplasia, 248370 Hutchinson Gilford progeria, 176670, Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.56 | LMNA | Louise Daugherty Source South West GLH was added to LMNA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.55 | LMNA | Louise Daugherty reviewed gene: LMNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.52 | LMNA | James Polke reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.51 | LMNA | Louise Daugherty Source NHS GMS was added to LMNA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.50 | LMNA |
Louise Daugherty Source London North GLH was added to LMNA. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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