Periodic fever syndromes
Gene: APOA1
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
Mode of inheritance for gene: APOA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APOA1 were set to PMID: 26515634; 12050338; 27240838
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.
Mode of inheritance for APOA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Publications for APOA1 were set to PMID: 26515634; 12050338; 27240838
Phenotypes for APOA1 were set to Amyloidosis 105200
Publications for APOA1 were set to PMID: 26515634; 12050338
This gene has been classified as Green List (High Evidence).
APOA1 was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene APOA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene APOA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
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