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| Ataxia v2.136 | NOTCH2NLC_NIID_GGC | Bryony Thompson Marked STR: NOTCH2NLC_NIID_GGC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.136 | NOTCH2NLC_NIID_GGC | Bryony Thompson Str: notch2nlc_niid_ggc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.136 | NOTCH2NLC_NIID_GGC |
Bryony Thompson changed review comment from: NM_001364012.2:c.-164GGC[X] Expanded repeat in NOTCH2NLC sequence is (GGC)9(GGA)2(GGC)2. Large number of families and sporadic cases reported with expansions, with a range of neurodegenerative phenotypes, including: dementia, Parkinsonism/tremor, peripheral neuropathy, leukoencephalopathy, myopathy, motor neurone disease. Normal repeat range: 4-40, 1 control had 61 repeats and may have been a presymptomatic carrier. Intermediate range: 41-60 identified in Parkinson's disease Pathogenic repeat range: >=60-520 Mechanism of disease is translation of repeat expansion into a toxic polyglycine protein, identified in both mouse models and tissue samples from affected individuals. Sources: Expert list; to: NM_001364012.2:c.-164GGC[X] Expanded repeat in NOTCH2NLC sequence is (GGC)9(GGA)2(GGC)2. Large number of families and sporadic cases reported with expansions, with a range of neurodegenerative phenotypes, including: dementia, Parkinsonism/tremor, peripheral neuropathy, leukoencephalopathy, myopathy, motor neurone disease, ataxia. Normal repeat range: 4-40, 1 control had 61 repeats and may have been a presymptomatic carrier. Intermediate range: 41-60 identified in Parkinson's disease Pathogenic repeat range: >=60-520 Mechanism of disease is translation of repeat expansion into a toxic polyglycine protein, identified in both mouse models and tissue samples from affected individuals. Sources: Expert list |
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| Ataxia v2.136 | Bryony Thompson Copied STR NOTCH2NLC_NIID_GGC from panel Repeat Disorders | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.136 | NOTCH2NLC_NIID_GGC |
Bryony Thompson STR: NOTCH2NLC_NIID_GGC was added STR: NOTCH2NLC_NIID_GGC was added to Ataxia. Sources: Expert Review Green,Expert list adult-onset tags were added to STR: NOTCH2NLC_NIID_GGC. Mode of inheritance for STR: NOTCH2NLC_NIID_GGC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: NOTCH2NLC_NIID_GGC were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102; 34333668 Phenotypes for STR: NOTCH2NLC_NIID_GGC were set to Neuronal intranuclear inclusion disease MIM#603472; Oculopharyngodistal myopathy 3 MIM#619473; Tremor, hereditary essential, 6 MIM#618866 |
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