MTTP

microsomal triglyceride transfer protein
OMIM: 157147
PanelMode of inheritanceDetails
5 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Abetalipoproteinemia, 200100
R-numbers: R54
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Abetalipoproteinemia, 200100, Abetalipoproteinemia
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Abetalipoproteinemia, 200100, (ACANTHOCYTOSIS, BASSEN-KORNZWEIG SYNDROME, MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY, MTP DEFICIENCY), Familial abetalipoproteinaemia (Inherited hypolipidaemias)
R-numbers: R331
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Abetalipoproteinemia, OMIM:200100
R-numbers: R32
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Abetalipoproteinemia, OMIM:200100, MONDO:0008692