| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Possible mitochondrial disorder - nuclear genes v1.77 | FH | Arina Puzriakova Phenotypes for gene: FH were changed from Fumarase deficiency 606812 to Fumarase deficiency, OMIM:606812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v1.4 | FH | Sarah Leigh Added comment: Comment on phenotypes: Monoallelic variants are associated with Leiomyomatosis and renal cell cancer 150800, however, this phenotype is not appropriate for this panel (in consultation with the GMS Mitochondrial specialist test group). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v1.4 | FH | Sarah Leigh Phenotypes for gene: FH were changed from Leiomyomatosis and renal cell cancer, 150800; Fumarase deficiency, 606812 to Fumarase deficiency 606812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v1.3 | FH | Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance for this gene is listed as bialleic, for Fumarase deficiency 606812. Monoallelic variants are associated with Leiomyomatosis and renal cell cancer 150800, which is not appropriate for this panel (in consultation with the GMS Mitochondrial specialist test group). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v1.3 | FH | Sarah Leigh Mode of inheritance for gene: FH was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.5 | FH | Ivone Leong reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fumarase deficiency, 606812, Leiomyomatosis and renal cell cancer, 150800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.2 | FH |
Ivone Leong gene: FH was added gene: FH was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FH were set to Leiomyomatosis and renal cell cancer, 150800; Fumarase deficiency, 606812 |
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