APOA1

apolipoprotein A1
OMIM: 107680
PanelMode of inheritanceDetails
2 panels
R-numbers: R204
Signed-off version 1.18
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amyloidosis, 3 or more types OMIM:105200, familial visceral amyloidosis MONDO:0007099
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.0
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