Pain syndromes
Gene: FAAHP1EnsemblGeneIds (GRCh38): ENSG00000232022
EnsemblGeneIds (GRCh37): ENSG00000232022
FAAHP1 is in 1 panel
1 review
Bryony Thompson (Royal Melbourne Hospital)
This is a pseudogene. A single case with pain insensitivity has been reported with co-inheritance of a microdeletion in dorsal root ganglia and brain-expressed pseudogene and a common functional SNP in FAAH (rs324420 ) conferring reduced expression and activity.Created: 26 Feb 2021, 3:50 a.m. | Last Modified: 26 Feb 2021, 3:50 a.m.
Panel Version: 0.12
Mode of inheritance
Unknown
Phenotypes
pain insensitivity
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Literature
- Genomics England PanelApp
- Phenotypes
-
- Pain insensitivity
- Clinvar variants
- Variants in FAAHP1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: faahp1 has been classified as Red List (Low Evidence).
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: FAAHP1 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: faahp1 has been classified as Red List (Low Evidence).
Added New Source, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Source Literature was added to FAAHP1. Added phenotypes Pain insensitivity for gene: FAAHP1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FAAHP1 was added gene: FAAHP1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: FAAHP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAAHP1 were set to 30929760 Phenotypes for gene: FAAHP1 were set to Pain insensitivity