Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: FDFT1

Green List (high evidence)

FDFT1 (farnesyl-diphosphate farnesyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000079459
EnsemblGeneIds (GRCh37): ENSG00000079459
OMIM: 184420, Gene2Phenotype
FDFT1 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three individuals from two unrelated families reported; metabolic disorder with good level of biochemical evidence to support gene-disease association..
Sources: Expert list
Created: 3 Dec 2019, 3:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Squalene synthase deficiency, MIM#618156

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Squalene synthase deficiency, MIM#618156
OMIM
184420
Clinvar variants
Variants in FDFT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fdft1 has been classified as Green List (High Evidence).

3 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fdft1 has been classified as Green List (High Evidence).

3 Dec 2019, Gel status: 1

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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list 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, MIM#618156 Review for gene: FDFT1 was set to GREEN