Genomics England

MMACHC

methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria

Panel	Mode of inheritance	Details
Filter panels10 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 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ataxia and hypogonadism, Methylmalonic aciduria and homocystinuria, cblC type, 277400
Green in Atypical haemolytic uraemic syndrome R-numbers: R201 Signed-off version 2.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE 277400
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 2.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE
Green in Genetic epilepsy syndromes R-numbers: R59 Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400
Green in Hereditary ataxia - adult onset R-numbers: R54 Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ataxia and hypogonadism, Methylmalonic aciduria and homocystinuria cblC type, 277400, Methylmalonic aciduria and homocystinuria, cblC type, 277400
Green in Inborn errors of metabolism Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R98 Signed-off version 3.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R29 Signed-off version 4.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE
Green in Retinal disorders R-numbers: R32 Signed-off version 3.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Methylmalonic aciduria and homocystinuria, cblC type, OMIM:277400, MONDO:0010184
Green in Unexplained paediatric onset end-stage renal disease R-numbers: R257 Signed-off version 2.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400