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Intellectual disability syndromic and non-syndromic

Gene: FAAH2

Red List (low evidence)

FAAH2 (fatty acid amide hydrolase 2)
EnsemblGeneIds (GRCh38): ENSG00000165591
EnsemblGeneIds (GRCh37): ENSG00000165591
OMIM: 300654, Gene2Phenotype
FAAH2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single case, maternally inherited variant, no convincing functional data.
Created: 2 Dec 2019, 9:49 a.m. | Last Modified: 2 Dec 2019, 9:49 a.m.
Panel Version: 0.204

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

Phenotypes
Neuropsychiatric disorder

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Neuropsychiatric disorder
OMIM
300654
Clinvar variants
Variants in FAAH2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: faah2 has been classified as Red List (Low Evidence).

2 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FAAH2 were changed from to Neuropsychiatric disorder

2 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FAAH2 were set to

2 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: faah2 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FAAH2 was added gene: FAAH2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FAAH2 was set to Unknown