THAP11

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Red THAP11 in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Phenotypes Methylmalonic aciduria, cblC type-like, MIM# 620940 Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related
Red THAP11 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Methylmalonic aciduria, cblC type-like, MIM# 620940 Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related
Red THAP11 in Vitamin metabolism disorders Level 2: Metabolic disorders Version 1.7 Component of the following Super Panels: Metabolic Disorders Superpanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Expert Review Phenotypes Methylmalonic aciduria, cblC type-like, MIM# 620940 Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related
Amber SCA_THAP11_CAG STR in Repeat Disorders Version 0.168	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes Spinocerebellar ataxia 51, MIM# 620947

4 panels