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  3. APOA1
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Hereditary Neuropathy - complex

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Neuropathy is a predominant feature, particularly of the Iowa type, associated with p.Gly26Arg
Sources: NHS GMS
Created: 31 Mar 2020, 7:07 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyloidosis, 3 or more types 105200; Renal failure, Axonal sensory-motor neuropathy, amyloid nephropathy

Created: 31 Mar 2020, 7:07 a.m.

Panel version: 0.22

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Amyloidosis, 3 or more types 105200
  • Renal failure, Axonal sensory-motor neuropathy, amyloid nephropathy
OMIM
107680
Clinvar variants
Variants in APOA1
Penetrance
None
Panels with this gene

History Filter Activity

31 Mar 2020, 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).

31 Mar 2020, 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).

31 Mar 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: APOA1 was added gene: APOA1 was added to Hereditary Neuropathy - complex. Sources: NHS GMS Mode of inheritance for gene: APOA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: APOA1 were set to Amyloidosis, 3 or more types 105200; Renal failure, Axonal sensory-motor neuropathy, amyloid nephropathy Review for gene: APOA1 was set to GREEN