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DDG2P

Gene: FDFT1

Red List (low evidence)

FDFT1 (farnesyl-diphosphate farnesyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000079459
EnsemblGeneIds (GRCh37): ENSG00000079459
OMIM: 184420, Gene2Phenotype
FDFT1 is in 3 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

New gene:disorder association added to DDG2P in March 2019: Defect in Cholesterol Biosynthesis. DDG2P Disease confidence: possible. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic.
Created: 22 Apr 2019, 7:34 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • DD-Gene2Phenotype
Phenotypes
  • Defect in Cholesterol Biosynthesis
OMIM
184420
Clinvar variants
Variants in FDFT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: FDFT1 was added gene: FDFT1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red 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 Defect in Cholesterol Biosynthesis