Periodic fever syndromes

Gene: APOA1

Green List (high evidence)

APOA1 (apolipoprotein A1)
EnsemblGeneIds (GRCh38): ENSG00000118137
EnsemblGeneIds (GRCh37): ENSG00000118137
OMIM: 107680, Gene2Phenotype
APOA1 is in 11 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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:0032766
Created: 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

Alice Gardham (Genomics England)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyloidosis 105200

Publications

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

3 Aug 2021, Gel status: 3

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

3 Aug 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: APOA1 were set to PMID: 26515634; 12050338; 27240838

22 Feb 2017, Gel status: 4

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.

22 Feb 2017, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for APOA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

2 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

2 Feb 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for APOA1 were set to PMID: 26515634; 12050338; 27240838

1 Feb 2017, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for APOA1 were set to Amyloidosis 105200

1 Feb 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for APOA1 were set to PMID: 26515634; 12050338

1 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

12 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

APOA1 was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility statement prior genetic testing

15 Jul 2015, Gel status: 2

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

15 Jul 2015, Gel status: 2

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

15 Jul 2015, Gel status: 1

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

15 Jul 2015, Gel status: 1

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

15 Jul 2015, Gel status: 0

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