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Intellectual disability

Gene: FAAH2

Amber List (moderate evidence)

FAAH2 (fatty acid amide hydrolase 2)
EnsemblGeneIds (GRCh38): ENSG00000165591
EnsemblGeneIds (GRCh37): ENSG00000165591
OMIM: 300654, Gene2Phenotype
FAAH2 is in 1 panel

4 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single case, maternally inherited variant, no convincing functional data.
Created: 2 Feb 2020, 6:30 a.m. | Last Modified: 2 Feb 2020, 6:30 a.m.
Panel Version: 3.0

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Neuropsychiatric disorder

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Ellen McDonagh (Genomics England Curator)

I don't know

PMID 25885783 reports a rare missense variant in this gene in a boy with autistic features with an onset before the age of 2 years who subsequently developed additional features including anxiety, pseudoseizures, ataxia, supranuclear gaze palsy, and isolated learning disabilities but was otherwise cognitively intact as an adult. PMID 20655035 proposes this gene as a candidate for X-linked ID. In PMID: 24896178 or PMID 26350204 as a candidate gene.
Created: 27 Oct 2017, 2:46 p.m.

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • Expert Review Red
Tags
watchlist
OMIM
300654
Clinvar variants
Variants in FAAH2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 2

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.

29 Nov 2017, Gel status: 2

Added New Source, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Amber was added to FAAH2. Panel: Intellectual disability Publications for gene FAAH2 was set to ['25885783', '20655035']

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

Created

Ellen McDonagh (Genomics England Curator)

FAAH2 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FAAH2 was added to Intellectual disabilitypanel. Sources: Expert Review Red