Genomics England
GMS Panels
Panels
Genes and Entities

MTTP

microsomal triglyceride transfer protein
OMIM: 157147
PanelMode of inheritanceDetails
6 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 6.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Abetalipoproteinemia, 200100
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 6.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Abetalipoproteinemia, 200100, Abetalipoproteinemia
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 5.16
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary Neuropathies, Abetalipoproteinemia, 200100
Green
in Intestinal failure or congenital diarrhoea
R-numbers: R331
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Abetalipoproteinemia, OMIM:200100
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Abetalipoproteinemia, 200100, (ACANTHOCYTOSIS, BASSEN-KORNZWEIG SYNDROME, MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY, MTP DEFICIENCY), Familial abetalipoproteinaemia (Inherited hypolipidaemias)
Green
in Retinal disorders
R-numbers: R32
Signed-off version 6.16
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Abetalipoproteinemia, OMIM:200100, MONDO:0008692