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| Hereditary Neuropathy v2.88 | CNBP_DM2_CCTG | Zornitza Stark Marked STR: CNBP_DM2_CCTG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.88 | CNBP_DM2_CCTG | Zornitza Stark Str: cnbp_dm2_cctg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.88 | CNBP_DM2_CCTG | Zornitza Stark Publications for STR: CNBP_DM2_CCTG were set to 20301639; 11486088 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.58 | CNBP_DM2_CCTG | Bryony Thompson changed review comment from: PMID 27401721 reports 9 individuals from 8 families with autosomal dominant CNBP CCTG repeat expansions presenting with peripheral axonal motor and sensory polyneuropathy as part of myotonic dystrophy type 2. Peripheral neuropathy is a recognised, variably penetrant feature of DM2; to: PMID 27401721 reports 9/17 individuals with autosomal dominant CNBP CCTG repeat expansions presenting with peripheral axonal motor and sensory polyneuropathy as part of myotonic dystrophy type 2. Peripheral neuropathy is a recognised, variably penetrant feature of DM2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.58 | CNBP_DM2_CCTG | Bryony Thompson edited their review of STR: CNBP_DM2_CCTG: Added comment: PMID 27401721 reports 9 individuals from 8 families with autosomal dominant CNBP CCTG repeat expansions presenting with peripheral axonal motor and sensory polyneuropathy as part of myotonic dystrophy type 2. Peripheral neuropathy is a recognised, variably penetrant feature of DM2; Changed publications: 20301639, 11486088, 27401721 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.58 | Bryony Thompson Copied STR CNBP_DM2_CCTG from panel Repeat Disorders | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.58 | CNBP_DM2_CCTG |
Bryony Thompson STR: CNBP_DM2_CCTG was added STR: CNBP_DM2_CCTG was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert list adult-onset tags were added to STR: CNBP_DM2_CCTG. Mode of inheritance for STR: CNBP_DM2_CCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: CNBP_DM2_CCTG were set to 20301639; 11486088 Phenotypes for STR: CNBP_DM2_CCTG were set to Myotonic dystrophy 2 MIM#602668 |
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