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Genetic epilepsy syndromes

Gene: FAR1

Amber List (moderate evidence)

FAR1 (fatty acyl-CoA reductase 1)
EnsemblGeneIds (GRCh38): ENSG00000197601
EnsemblGeneIds (GRCh37): ENSG00000197601
OMIM: 616107, Gene2Phenotype
FAR1 is in 9 panels

3 reviews

Rebecca Foulger (Genomics England curator)

I don't know

As discussed with members of the GMS Neurology Specialist Test Group on the Webex call 22nd November 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is insufficient evidence to rate this gene Green. Demoted from Green to Amber.
Created: 25 Nov 2019, 8:49 p.m. | Last Modified: 25 Nov 2019, 8:50 p.m.
Panel Version: 1.439
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Amber.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

AR peroxisomal fatty acyl-CoA reductase 1 disorder - onset in infancyof severely delayed psychomotor development, growth retardation with microcephaly and seizures. Buchert et al, 2014 -3 patients from 2 families with a severe disorder all had early-onset epilepsy. Bialleleic mutations identified in FAR1 (hom indel in consang family and compound het for a missense and a nonsense) and in vitro expression studies showed that all the mutations resulted in a complete loss of enzyme activity.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154

Publications

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Gene originally listed on the Intellectual disability panel V2.42.
Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in 2 unrelated cases, supportive functional studies provided for each variant (PMID 25439727).
Created: 10 Apr 2018, 9:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisomal fatty acyl-CoA reductase 1 disorder 616154

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Peroxisomal fatty acyl-CoA reductase 1 disorder 616154
OMIM
616107
Clinvar variants
Variants in FAR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: far1 has been classified as Amber List (Moderate Evidence).

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to FAR1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to FAR1.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Gene originally listed on the

10 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

FAR1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review

10 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

FAR1 was created by Sarah Leigh