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Hereditary systemic amyloidosis

Gene: APOA1

Green List (high evidence)
APOA1 (apolipoprotein A1)
EnsemblGeneIds (GRCh38): ENSG00000118137
EnsemblGeneIds (GRCh37): ENSG00000118137
OMIM: 107680, Gene2Phenotype
APOA1 is in 9 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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, 5:05 p.m. | Last Modified: 3 Aug 2021, 5:07 p.m.
Panel Version: 1.11
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 p.m. | Last Modified: 3 Aug 2021, 5 p.m.
Panel Version: 1.10

Publications

Created: 3 Aug 2021, 5 p.m.
Last Modified: 3 Aug 2021, 5:07 p.m.
Panel version: 1.11

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Associated with Amyloidosis, 3 or more types (#105200) in OMIM.
More than 3 cases reported.
Created: 13 Aug 2019, 10:37 a.m. | Last Modified: 13 Aug 2019, 10:37 a.m.
Panel Version: 0.7
This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group.Gene Symbol submitted: APOA1;Suggested initial gene rating: Green;Evidence for inclusion: none provided;Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided. Other Comments: Already on the Periodic Fever Syndrome App
Created: 2 Feb 2019, 3:49 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
105200

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 2 Feb 2019, 3:49 p.m.

Panel version: 0.7

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Amyloidosis, 3 or more types OMIM:105200
  • familial visceral amyloidosis MONDO:0007099
OMIM
107680
Clinvar variants
Variants in APOA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Aug 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: APOA1 were set to 27240838; 21820994; 16925563

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 Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: APOA1 were changed from Amyloidosis, 3 or more types 105200 to Amyloidosis, 3 or more types OMIM:105200; familial visceral amyloidosis MONDO:0007099

12 Sep 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: APOA1 were changed from 105200 to Amyloidosis, 3 or more types 105200

2 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: APOA1 was added gene: APOA1 was added to Amyloidosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: APOA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: APOA1 were set to 27240838; 21820994; 16925563 Phenotypes for gene: APOA1 were set to 105200