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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

7 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

As reviewed already, there are two cases reported in PMIDs: 25885783 & 34645488. Additional cases were reported in PMIDs: 20655035 & 23352160, however without much clinical details. Hence, the rating should remain amber.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Created: 17 May 2023, 8:45 p.m. | Last Modified: 17 May 2023, 9:01 p.m.
Panel Version: 5.135

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

Publications

Created: 17 May 2023, 8:45 p.m.
Last Modified: 17 May 2023, 9:01 p.m.
Panel version: 5.131

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

New case in PMID: 34645488, but another three cases mentioned in the publication.
Created: 16 Oct 2021, 12:44 p.m. | Last Modified: 16 Oct 2021, 12:44 p.m.
Panel Version: 3.1367

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

Publications

Created: 16 Oct 2021, 12:44 p.m.
Last Modified: 16 Oct 2021, 12:44 p.m.
Panel version: 3.1367

Arina Puzriakova (Genomics England Curator)

Following discussion with the clinical team, this gene has been demoted from Amber to Red, in accordance with the external review by Zornitza Stark
Created: 17 Aug 2020, 9:32 a.m. | Last Modified: 17 Aug 2020, 9:32 a.m.
Panel Version: 3.251
Created: 17 Aug 2020, 9:32 a.m.
Last Modified: 17 Aug 2020, 9:32 a.m.
Panel version: 3.251

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

Created: 2 Feb 2020, 6:30 a.m.
Last Modified: 2 Feb 2020, 6:30 a.m.
Panel version: 3.0

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)

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

Panel version: 0

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

Created: 27 Oct 2017, 2:46 p.m.

Panel version: Imported from Intellectual disability update Oct 2017 panel version 0.2

Lu Raymond (university of cambridge )

Red List (low evidence)

Created: 23 Feb 2016, 11:17 a.m.

Panel version: 0.306

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
Tags
watchlist
OMIM
300654
Clinvar variants
Variants in FAAH2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 May 2023, Gel status: 2

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene: FAAH2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 May 2023, Gel status: 2

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene: FAAH2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 May 2023, Gel status: 2

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene: FAAH2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 May 2023, Gel status: 2

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene: FAAH2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 May 2023, Gel status: 2

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene: FAAH2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 May 2023, Gel status: 2

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene: FAAH2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 May 2023, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488

17 May 2023, Gel status: 2

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene: FAAH2 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 May 2023, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488

17 May 2023, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488

17 May 2023, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488

17 May 2023, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488

17 May 2023, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488

17 May 2023, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488

17 May 2023, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488

17 May 2023, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488

17 May 2023, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: FAAH2 were set to 25885783; 20655035

17 May 2023, Gel status: 2

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene: FAAH2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

17 May 2023, Gel status: 2

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene: FAAH2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to BIALLELIC, autosomal or pseudoautosomal

17 May 2023, Gel status: 2

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene: FAAH2 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females

11 Feb 2021, Gel status: 2

Clear Sources

Catherine Snow (Genomics England)

Source: Expert Review Red was removed from gene: FAAH2

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

Added New Source

Ellen McDonagh (Genomics England Curator)

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

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FAAH2 was created by ellenmcdonagh