Miscellaneous Metabolic Disorders
Gene: FDFT1EnsemblGeneIds (GRCh38): ENSG00000079459
EnsemblGeneIds (GRCh37): ENSG00000079459
OMIM: 184420, Gene2Phenotype
FDFT1 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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 ReviewCreated: 24 Apr 2022, 6:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
squalene synthase deficiency MONDO:0032566
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- squalene synthase deficiency MONDO:0032566
- OMIM
- 184420
- Clinvar variants
- Variants in FDFT1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fdft1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fdft1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)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