Intellectual disability - microarray and sequencing
Gene: FAAH2
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
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
Following discussion with the clinical team, this gene has been demoted from Amber to Red, in accordance with the external review by Zornitza StarkCreated: 17 Aug 2020, 9:32 a.m. | Last Modified: 17 Aug 2020, 9:32 a.m.
Panel Version: 3.251
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
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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
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
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
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
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
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
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
Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488
Mode of inheritance for gene: FAAH2 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488
Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488
Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488
Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488
Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488
Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488
Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488
Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488
Publications for gene: FAAH2 were set to 25885783; 20655035
Mode of inheritance for gene: FAAH2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for gene: FAAH2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to BIALLELIC, autosomal or pseudoautosomal
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
Source: Expert Review Red was removed from gene: FAAH2
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.
Expert Review Amber was added to FAAH2. Panel: Intellectual disability Publications for gene FAAH2 was set to ['25885783', '20655035']
The Gel status was updated for this whole panel
The Gel status was updated for this whole panel
FAAH2 was added to Intellectual disabilitypanel. Sources: Expert Review Red
FAAH2 was created by ellenmcdonagh