Fetal anomalies
Gene: FAR1

FAR1 (fatty acyl-CoA reductase 1)
EnsemblGeneIds (GRCh38): ENSG00000197601
EnsemblGeneIds (GRCh37): ENSG00000197601
OMIM: 616107, Gene2Phenotype
FAR1 is in 10 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.

DDG2P rating in original PAGE list: Confirmed for SEVERE INTELLECTUAL DISABILITY, EPILEPSY, AND CATARACTS
Created: 11 Dec 2018, 9:04 a.m.

Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.134

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

PAGE DD-Gene2Phenotype
Expert Review Green

Phenotypes

Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154

OMIM

616107

Clinvar variants

Variants in FAR1

Penetrance

None

Panels with this gene

History Filter Activity

13 Apr 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: FAR1 were changed from SEVERE INTELLECTUAL DISABILITY, EPILEPSY, AND CATARACTS to Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: FAR1 was added gene: FAR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FAR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAR1 were set to SEVERE INTELLECTUAL DISABILITY, EPILEPSY, AND CATARACTS

Fetal anomalies Gene: FAR1