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  3. FASN
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Intellectual disability

Gene: FASN

Red List (low evidence)
FASN (fatty acid synthase)
EnsemblGeneIds (GRCh38): ENSG00000169710
EnsemblGeneIds (GRCh37): ENSG00000169710
OMIM: 600212, Gene2Phenotype
FASN is in 2 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Comment on publications: Added publication PMID:21937992
Created: 14 Mar 2018, 11:13 a.m.
Comment on publications: Candidate intellectual disability gene suggested by Najmabadi et al., (2011) PMID:19377476 and Grozeva et al, (2015) PMID: 26350204
Created: 1 Mar 2018, 2:46 p.m.
This is a candidate intellectual disability gene from Grozeva et al., (2015) PMID: 26350204, however no evidence to date has been found to support the association between variants of this gene and an observed intellectual disability phenotype. This gene currently a possible DD gene in Gene2Phenotype for autosomal recessive mental retardation Najmabadi et al., (2011) PMID:19377476.
Created: 1 Mar 2018, 2:42 p.m.
Created: 1 Mar 2018, 2:42 p.m.

Panel version: Imported from Intellectual disability update Jan 2018 panel version 0.235

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION

Publications

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

Panel version: 0

Lu Raymond (university of cambridge )

Red List (low evidence)

Created: 23 Feb 2016, 11:04 a.m.

Panel version: 0.306

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
OMIM
600212
Clinvar variants
Variants in FASN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Mar 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for FASN were set to 19377476; 26350204; 21937992

12 Mar 2018, Gel status: 1

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.

12 Mar 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene FASN was set to ['19377476', '26350204']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FASN was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FASN was created by ellenmcdonagh