Genomics England

MTTP

microsomal triglyceride transfer protein

Panel	Mode of inheritance	Details
Filter panels6 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 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Abetalipoproteinemia, 200100
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Abetalipoproteinemia, 200100, Abetalipoproteinemia
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 6.0	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 7.0	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 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Abetalipoproteinemia, OMIM:200100, MONDO:0008692