Periodic fever syndromes
Gene: HTR1AEnsemblGeneIds (GRCh38): ENSG00000178394
EnsemblGeneIds (GRCh37): ENSG00000178394
OMIM: 109760, Gene2Phenotype
HTR1A is in 1 panel
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: Only reported in one patientCreated: 1 Feb 2017, 3:01 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Other
- Phenotypes
-
- Periodic fever, menstrual cycle dependent, 614674
- OMIM
- 109760
- Clinvar variants
- Variants in HTR1A
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)22nd February 2017: Promoted to V1. Panel was reviewed by Tracy Briggs and Alice Gardham. Panel was revised according to expert review and additional curation.
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for HTR1A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Created
Rebecca Foulger (Genomics England curator)HTR1A was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)HTR1A was added to Periodic fever syndromespanel. Sources: Other