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 6.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ataxia and hypogonadism, Methylmalonic aciduria and homocystinuria, cblC type, 277400
Green in Atypical haemolytic uraemic syndrome Component of the following Super Panels: - Unexplained young onset end-stage renal disease R-numbers: R201 Signed-off version 3.5	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 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE 277400
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 6.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 6.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ataxia and hypogonadism, Methylmalonic aciduria and homocystinuria cblC type, 277400, Methylmalonic aciduria and homocystinuria, cblC type, 277400
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 5.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Onset infancy to adulthood, Methylmalonic aciduria and homocystinuria, cblC type, 277400, thrombotic thrombocytopenia with encephalopathy, myelopathy, renal and pulmonary complications (can be life threatening), retinitis pigmentosa, axonal motor neuropathy. Treated with high dose vitamin B12
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 6.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400
Green in Retinal disorders R-numbers: R32 Signed-off version 6.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Methylmalonic aciduria and homocystinuria, cblC type, OMIM:277400, MONDO:0010184