Intellectual disability update Jan 2018
Gene: FASN

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

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

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: 0.235

Details

Sources

Expert Review Red

OMIM

600212

Clinvar variants

Variants in FASN

Penetrance

None

Publications

Panels with this gene

History Filter Activity

1 Mar 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for FASN were set to 19377476; 26350204

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FASN was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red

18 Dec 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

FASN was created by Ellen McDonagh

Intellectual disability update Jan 2018 Gene: FASN