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| Mendeliome v1.3701 | FDFT1 | Bryony Thompson Phenotypes for gene: FDFT1 were changed from squalene synthase deficiency MONDO:0032566 to squalene synthase deficiency MONDO:0032566; porokeratosis MONDO:0006602, FDFT1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3700 | FDFT1 | Bryony Thompson Publications for gene: FDFT1 were set to 29909962 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3699 | FDFT1 | Bryony Thompson Mode of inheritance for gene: FDFT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3698 | FDFT1 | Bryony Thompson edited their review of gene: FDFT1: Added comment: PMID: 38653249 - Skin lesions of 2 individuals with generalised porokeratosis had germline and lesion-specific somatic variants on opposite alleles in FDFT1, representing FDFT1-associated hereditary porokeratosis. Whereas, lesions of the solitary or linearly arranged localised form in 6 individuals had somatic biallelic promoter hypermethylation or monoallelic promoter hypermethylation with somatic genetic alterations on opposite alleles in FDFT1, indicating non-hereditary porokeratosis - gene-specific somatic epigenetic mosaicism. Porokeratosis is characterised as an autoinflammatory keratinisation disease; Changed publications: 29909962, 38653249; Changed phenotypes: squalene synthase deficiency MONDO:0032566, porokeratosis MONDO:0006602, FDFT1-related; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13132 | FDFT1 | Bryony Thompson Marked gene: FDFT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13132 | FDFT1 | Bryony Thompson Gene: fdft1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13132 | FDFT1 | Bryony Thompson Phenotypes for gene: FDFT1 were changed from to squalene synthase deficiency MONDO:0032566 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13131 | FDFT1 | Bryony Thompson Publications for gene: FDFT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13130 | FDFT1 | Bryony Thompson Mode of inheritance for gene: FDFT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13129 | FDFT1 | Bryony Thompson reviewed gene: FDFT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29909962; Phenotypes: squalene synthase deficiency MONDO:0032566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | FDFT1 |
Zornitza Stark gene: FDFT1 was added gene: FDFT1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FDFT1 was set to Unknown |
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