TTPA:Ensemblv115

alpha tocopherol transfer protein
OMIM: 600415, ClinGen, DECIPHER

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green TTPA in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green TTPA in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Royal Melbourne Hospital Expert list NHS GMS Expert Review Green Phenotypes Ataxia with isolated vitamin E deficiency Ataxia with Vitamin E Deficiency Ataxia with isolated vitamin E deficiency, 277460
Green TTPA in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green NHS GMS Expert Review Green Phenotypes Ataxia with vitamin E deficiency Early-onset ataxia and sensory axonal neuropathy similar to Friedreich’s ataxia, head titubation, normal fat absorption unlike abetalipoproteinemia, rarely retinitis pigmentosa
Green TTPA in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 1.0	2 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green RetNet Expert list NHS GMS Expert Review Green
Green TTPA in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Ataxia with isolated vitamin E deficiency, 277460 (3)
Green TTPA in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Ataxia with isolated vitamin E deficiency
Green TTPA in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Ataxia with isolated vitamin E deficiency MIM#277460 disorders of vitamins and cofactors
Green TTPA in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Ataxia with isolated vitamin E deficiency, 277460 (3)
Green TTPA in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ataxia with isolated vitamin E deficiency MIM#277460 Tags treatable neurological
Green TTPA in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Ataxia with isolated vitamin E deficiency MIM#277460
Red TTPA in Vitamin metabolism disorders Level 2: Metabolic disorders Version 2.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review green Phenotypes familial isolated deficiency of vitamin E MONDO:0010188 Other disorders of vitamin metabolism