| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Incidentalome v0.261 | CHCHD2 | Bryony Thompson Marked gene: CHCHD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.261 | CHCHD2 | Bryony Thompson Gene: chchd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.261 | CHCHD2 | Bryony Thompson Tag adult onset neurodegenerative tag was added to gene: CHCHD2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.71 | HD | Bryony Thompson Classified STR: HD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.71 | HD | Bryony Thompson Str: hd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.70 | HD | Bryony Thompson Marked STR: HD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.70 | HD | Bryony Thompson Str: hd has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.70 | HD |
Bryony Thompson STR: HD was added STR: HD was added to Incidentalome. Sources: Expert list Mode of inheritance for STR: HD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: HD were set to 8458085; 20301482; 29325606 Phenotypes for STR: HD were set to Huntington disease MIM#143100 Review for STR: HD was set to GREEN STR: HD was marked as clinically relevant Added comment: NM_002111.8:c.52_54CAG[X] Primary mechanism of disease is gain of function Normal: ≤26 repeats Intermediate: 27-35 repeats, no risk for proband but expansion possible in the next generation Pathogenic (reduced penetrance): 36-39 repeats, proband at risk for HD but may not develop symptoms Pathogenic (full penetrance): ≥40 repeats, development of HD with increased certainty assuming a normal life span Sources: Expert list |
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| Incidentalome v0.69 | HTT | Bryony Thompson Added comment: Comment on list classification: Included on the panel as an STR under HD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.12 | CHCHD2 | Bryony Thompson Publications for gene: CHCHD2 were set to 32068847; 25662902; 31600778 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.11 | CHCHD2 | Bryony Thompson Classified gene: CHCHD2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.11 | CHCHD2 | Bryony Thompson Gene: chchd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.10 | CHCHD2 |
Bryony Thompson gene: CHCHD2 was added gene: CHCHD2 was added to Incidentalome. Sources: Expert list Mode of inheritance for gene: CHCHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHCHD2 were set to 32068847; 25662902; 31600778 Phenotypes for gene: CHCHD2 were set to Parkinson disease 22, autosomal dominant MIM#616710 Review for gene: CHCHD2 was set to GREEN Added comment: Adult-onset neurodegenerative disorder. Five families with heterozygous variants, segregation evidence for T61I in multiple families. Supporting functional evidence suggesting mitochondrial dysfunction through the genes role in mitochondrial respiratory function. Sources: Expert list |
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| Incidentalome v0.0 | SDHD |
Zornitza Stark gene: SDHD was added gene: SDHD was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SDHD was set to Unknown |
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