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| Miscellaneous Metabolic Disorders v1.15 | FDFT1 | Zornitza Stark Marked gene: FDFT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v1.15 | FDFT1 | Zornitza Stark Gene: fdft1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v1.15 | FDFT1 | Zornitza Stark Classified gene: FDFT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v1.15 | FDFT1 | Zornitza Stark Gene: fdft1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v1.14 | FDFT1 |
Zornitza Stark gene: FDFT1 was added gene: FDFT1 was added to Miscellaneous Metabolic Disorders. Sources: Expert Review Mode of inheritance for gene: FDFT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FDFT1 were set to 29909962 Phenotypes for gene: FDFT1 were set to squalene synthase deficiency MONDO:0032566 Review for gene: FDFT1 was set to GREEN Added comment: Rare disorder of cholesterol biosynthesis, similar to Smith-Lemli-Opitz syndrome. Only 3 individuals with squalene synthase deficiency from 2 families with homozygous/compound heterozygous variants reported. Metabolite profiles from affected individuals suggested a defect at the level of squalene synthase. Reduced protein expression in patient cells. Sources: Expert Review |
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