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Mitochondrial disease v0.43 | LIPT1 | Zornitza Stark Marked gene: LIPT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disease v0.43 | LIPT1 | Zornitza Stark Gene: lipt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disease v0.43 | LIPT1 | Zornitza Stark Phenotypes for gene: LIPT1 were changed from to Lipoyltransferase 1 deficiency, MIM#616299; Leigh-like presentation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disease v0.42 | LIPT1 | Zornitza Stark Mode of inheritance for gene: LIPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disease v0.41 | LIPT1 | Zornitza Stark reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipoyltransferase 1 deficiency, MIM#616299, Leigh-like presentation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disease v0.0 | LIPT1 |
Zornitza Stark gene: LIPT1 was added gene: LIPT1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: LIPT1 was set to Unknown |