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  3. APOA1
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Groopman et al 2019 - Genes with diagnostic variants

Gene: APOA1

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

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: APOA1; Inheritance: AD; Clinical diagnosis: Glomerulopathy; Genetic diagnosis: Amyloidosis, renal; OMIM phenotype MIM No.: 105200; Number of cases: 1
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4
Created: 2 Jul 2019, 9:46 p.m.
Last Modified: 2 Jul 2019, 9:46 p.m.
Panel version: 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert review red
  • Literature
Phenotypes
  • MIM 105200
  • Amyloidosis, renal
  • Glomerulopathy
OMIM
107680
Clinvar variants
Variants in APOA1
Penetrance
None
Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source Expert Review Red was added to APOA1.

2 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: APOA1 was added gene: APOA1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: APOA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: APOA1 were set to MIM 105200; Amyloidosis, renal; Glomerulopathy