THAP11

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Red THAP11 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Phenotypes Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related
Red THAP11 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related
Red THAP11 in Vitamin metabolism disorders Level 2: Metabolic disorders Version 1.6 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Expert Review Phenotypes Methylmalonic aciduria and homocystinuria MONDO:0016826
Amber SCA_THAP11_CAG STR in Repeat Disorders Version 0.167	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes autosomal dominant cerebellar ataxia MONDO:0020380

4 panels