APOA1

apolipoprotein A1
OMIM: 107680
PanelMode of inheritanceDetails
2 panels
Green
in Amyloidosis
R-numbers: R204
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amyloidosis, 3 or more types 105200
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Amyloidosis, 3 or more types OMIM:105200, familial visceral amyloidosis MONDO:0007099, ApoA-I and apoC-III deficiency, combined OMIM:618463, Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding OMIM:618463, hypoalphalipoproteinemia, primary, 2 MONDO:0032766