Periodic fever syndromes
Gene: APOA1EnsemblGeneIds (GRCh38): ENSG00000118137
EnsemblGeneIds (GRCh37): ENSG00000118137
OMIM: 107680, Gene2Phenotype
APOA1 is in 9 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment on mode of inheritance: Both biallelic and monoallelic variants have been associated with ApoA-I and apoC-III deficiency, combined OMIM:618463;
Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding OMIM:618463;hypoalphalipoproteinemia, primary, 2 MONDO:0032766Created: 3 Aug 2021, 5:12 p.m. | Last Modified: 3 Aug 2021, 5:12 p.m.
Panel Version: 1.15
It would appear that certain heterozygous APOA1 variants are associated with Amyloidosis, 3 or more types OMIM:105200 (PMID 32022753, 24 variants listed in table 1).Created: 3 Aug 2021, 5:11 p.m. | Last Modified: 3 Aug 2021, 5:11 p.m.
Panel Version: 1.14
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Amyloidosis 105200
- OMIM
- 107680
- Clinvar variants
- Variants in APOA1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: APOA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: APOA1 were set to PMID: 26515634; 12050338; 27240838
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 APOA1 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 Green List (High Evidence).
Set publications
Alice Gardham (Genomics England)Publications for APOA1 were set to PMID: 26515634; 12050338; 27240838
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for APOA1 were set to Amyloidosis 105200
Set publications
Alice Gardham (Genomics England)Publications for APOA1 were set to PMID: 26515634; 12050338
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)APOA1 was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility statement prior genetic testing
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene APOA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)APOA1 was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility Statements for GeL,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene APOA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)APOA1 was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility Statements for GeL,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)APOA1 was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility Statements for GeL,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services