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Intellectual disability

Gene: FAR1

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

6 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 3 May 2024, 11:55 a.m. | Last Modified: 3 May 2024, 11:55 a.m.
Panel Version: 6.11
As the recommendation is to change the MOI on this panel, the to_be_confirmed_NHSE tag has been added, as further NHSE review is required.
Created: 15 Mar 2022, 6 p.m. | Last Modified: 15 Mar 2022, 6 p.m.
Panel Version: 3.1519

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Publications

Created: 15 Mar 2022, 6 p.m.
Last Modified: 15 Mar 2022, 6 p.m.
Panel version: 6.11

Arina Puzriakova (Genomics England Curator)

FAR1 was reassessed in view of recent review by Zornitza Stark highlighting newly published cases with heterozygous variants in this gene (PMID: 33239752). While 10/12 patients presented speech delay (later resolved in most cases), neurocognitive delay and ID was less common in the cohort (3/12). The phenotype is better defined by other features such as bilateral cataracts and spastic di- or paraparesis (FAR1 added to the appropriate panels).

This panel is more pertinent to the phenotype associated with biallelic variants, where all individuals presented profound ID (PMID: 25439727; 30561787).

Nonetheless, as there are sufficient cases with monoallelic variants and ID (3), this gene will be flagged for GMS expert review to determine whether there is enough evidence to change the MOI on this panel from 'Biallelic' to 'Both mono- and biallelic'
Created: 4 May 2021, 12:35 p.m. | Last Modified: 4 May 2021, 12:35 p.m.
Panel Version: 3.1055

Publications

Created: 4 May 2021, 12:35 p.m.
Last Modified: 4 May 2021, 12:35 p.m.
Panel version: 3.1055

Zornitza Stark (Australian Genomics)

Green List (high evidence)

PMID 33239752: 12 patients with paediatric onset spastic paraparesis and bilateral congenital/juvenile cataracts. Most also had speech and gross motor developmental delay and truncal hypotonia. Exome sequencing identified de novo variants affecting the Arg480 residue in FAR1 (p.Arg480Cys/His/Leu). Further functional studies in fibroblasts showed that these variants cause a disruption of the plasmalogen-dependent feedback regulation of FAR1 protein levels leading to uncontrolled ether lipid production.
Created: 19 Apr 2021, 8:51 a.m. | Last Modified: 19 Apr 2021, 8:51 a.m.
Panel Version: 3.1018
Onset in infancy of severely delayed psychomotor development, growth retardation with microcephaly and seizures in 3 individuals from 2 families. Bialleleic variants 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 variants resulted in a complete loss of enzyme activity.
Created: 2 Feb 2020, 8:31 a.m. | Last Modified: 2 Feb 2020, 8:31 a.m.
Panel Version: 3.0

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154; spastic paraparesis and bilateral cataracts

Publications

Created: 2 Feb 2020, 8:31 a.m.
Last Modified: 2 Feb 2020, 8:31 a.m.
Panel version: 3.1018

Caroline Wright (Sanger)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SEVERE INTELLECTUAL DISABILITY, EPILEPSY, AND CATARACTS

Publications

  • 0

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 5:45 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 12:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 2 Aug 2017, 5:39 p.m.

Panel version: 1.354

Lu Raymond (university of cambridge )

Green List (high evidence)

Created: 23 Feb 2016, 10:41 a.m.

Panel version: 0.306

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
OMIM
616107
Clinvar variants
Variants in FAR1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 May 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag to_be_confirmed_NHSE was removed from gene: FAR1.

3 May 2024, Gel status: 3

Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to FAR1. Mode of inheritance for gene FAR1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

27 Dec 2023, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_21_expert_review was removed from gene: FAR1. Tag Q2_21_MOI was removed from gene: FAR1.

15 Mar 2022, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag to_be_confirmed_NHSE tag was added to gene: FAR1.

4 May 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: FAR1 were set to 25439727

4 May 2021, Gel status: 3

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_expert_review tag was added to gene: FAR1. Tag Q2_21_MOI tag was added to gene: FAR1.

13 Apr 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: FAR1 were set to 0

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

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to FAR1.

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FAR1 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FAR1 was added to Intellectual disabilitypanel. Sources: Expert Review Green