Genomics England
GMS Panels
Panels
Genes and Entities

APOA1

apolipoprotein A1
OMIM: 107680
PanelMode of inheritanceDetails
3 panels
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 5.16
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Renal failure, Axonal sensory-motor neuropathy similar to TTR FAP, amyloid nephropathy
Green
in Hereditary systemic amyloidosis
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R204
Signed-off version 1.22
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amyloidosis, 3 or more types OMIM:105200, familial visceral amyloidosis MONDO:0007099
Green
in Likely inborn error of metabolism
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 6.14
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