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Amyloidosis

Gene: APOA1

Green List (high evidence)
APOA1 (apolipoprotein A1)
EnsemblGeneIds (GRCh38): ENSG00000118137
EnsemblGeneIds (GRCh37): ENSG00000118137
OMIM: 107680, Gene2Phenotype
APOA1 is in 6 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyloidosis, 3 or more types

Publications

Created: 27 Nov 2019, 10:56 p.m.
Last Modified: 27 Nov 2019, 10:56 p.m.
Panel version: 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Amyloidosis, 3 or more types, MIM#105200
OMIM
107680
Clinvar variants
Variants in APOA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: apoa1 has been classified as Green List (High Evidence).

27 Nov 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: apoa1 has been classified as Green List (High Evidence).

27 Nov 2019, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

Source KidGen_Amyloidosis v38.1.0 was removed from APOA1. Source Expert list was added to APOA1. Mode of inheritance for gene APOA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: APOA1 were changed from to Amyloidosis, 3 or more types Publications for gene APOA1 were changed from PubMed:31482740; 29968409; 27240838 to PubMed:31482740; 29968409; 27240838

17 Nov 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: APOA1 was added gene: APOA1 was added to Amyloidosis_KidGen. Sources: KidGen_Amyloidosis v38.1.0 Mode of inheritance for gene: APOA1 was set to Unknown