MTTP

microsomal triglyceride transfer protein
OMIM: 157147, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green MTTP in Congenital Diarrhoea Level 2: Gastroenterological disorders Version 1.23	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Abetalipoproteinemia, MIM# 200100 Tags treatable
Green MTTP in Mendeliome Version 1.3512	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Abetalipoproteinaemia, MIM# 200100
Green MTTP in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.594	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags treatable
Green MTTP in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.60 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Abetalipoproteinemia, 200100 Abetalipoproteinemia Tags treatable
Green MTTP in Dyslipidaemia Level 2: Endocrine disorders Version 0.46 Component of the following Super Panels: Metabolic Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Abetalipoproteinemia MIM#200100 Inherited hypolipidaemias Tags treatable
Green MTTP in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.40 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Abetalipoproteinemia (MIM#200100) Young onset Abetalipoproteinaemia hypocholesterloaemia leading to malabsorption of fat-soluble vitamins (vitamin E), acanthocytes, retinitis pigmentosa, progressive sensory axonal neuropathy Tags treatable
Green MTTP in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.234 Component of the following Super Panels: Retinal Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Phenotypes Abetalipoproteinemia, MIM# 200100 Tags treatable
Green MTTP in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Abetalipoproteinemia, 200100 (3)
Green MTTP in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Abetalipoproteinaemia
Green MTTP in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Abetalipoproteinemia MIM#200100
Green MTTP in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Abetalipoproteinemia, MIM# 200100 Tags treatable metabolic
Green MTTP in Transplant Co-Morbidity Level 2: Screening Version 0.20	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Inherited hypolipidaemias Abetalipoproteinemia MIM#200100
Green MTTP in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Abetalipoproteinaemia MIM#200100