| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dystonia - complex v0.190 | Bryony Thompson removed STR:C9orf72 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.152 | C9orf72 | Bryony Thompson Classified gene: C9orf72 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.152 | C9orf72 | Bryony Thompson Gene: c9orf72 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.151 | C9orf72 | Bryony Thompson Marked STR: C9orf72 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.151 | C9orf72 | Bryony Thompson Str: c9orf72 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.151 | C9orf72 | Bryony Thompson Classified STR: C9orf72 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.151 | C9orf72 | Bryony Thompson Str: c9orf72 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.150 | C9orf72 |
Bryony Thompson STR: C9orf72 was added STR: C9orf72 was added to Dystonia - complex. Sources: Expert list STR tags were added to STR: C9orf72. Mode of inheritance for STR: C9orf72 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: C9orf72 were set to 26166205; 24363131; 26187722; 25577942 Phenotypes for STR: C9orf72 were set to Dystonia; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550 Review for STR: C9orf72 was set to GREEN STR: C9orf72 was marked as clinically relevant Added comment: NG_031977.1:g.5321GGGGCC[X] Repeat expansion affects the protein degradation pathways and may contribute to TDP‐43 accumulation Normal alleles: ≤25 G4C2 hexanucleotide repeat units generally considered normal Pathogenic high-penetrance alleles: ≥60 G4C2 hexanucleotide repeat units are considered pathogenic Note: The minimal size of a G4C2 pathogenic repeat is under debate: some studies consider repeats of >30 G4C2 hexanucleotide repeat units as pathogenic, whereas others use a cutoff of 60 G4C2 hexanucleotide repeat units. Sources: Expert list |
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| Dystonia - complex v0.80 | C9orf72 | Zornitza Stark Marked gene: C9orf72 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.80 | C9orf72 | Zornitza Stark Gene: c9orf72 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.80 | C9orf72 | Zornitza Stark Classified gene: C9orf72 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.80 | C9orf72 | Zornitza Stark Gene: c9orf72 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.79 | C9orf72 |
Zornitza Stark gene: C9orf72 was added gene: C9orf72 was added to Dystonia - complex. Sources: Expert list STR tags were added to gene: C9orf72. Mode of inheritance for gene: C9orf72 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: C9orf72 were set to 26166205; 24363131; 26187722 Phenotypes for gene: C9orf72 were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, MIM# 105550 Review for gene: C9orf72 was set to GREEN Added comment: Dystonia is a well described feature of this condition. Note condition is caused by heterozygous hexanucleotide repeat expansion (GGGGCC) in a noncoding region of the C9ORF72 gene. Sources: Expert list |
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