MMADHC

methylmalonic aciduria and homocystinuria, cblD type
OMIM: 611935, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green MMADHC in Mendeliome Version 1.3512	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Homocystinuria, cblD type, variant 1 MIM#277410 Methylmalonic aciduria and homocystinuria, cblD type MIM#277410 Methylmalonic aciduria, cblD type, variant 2 MIM#277410 Disorders of cobalamin absorption, transport and metabolism Tags treatable
Green MMADHC in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.267 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Homocystinuria, cblD type, variant 1 MIM#277410 Methylmalonic aciduria and homocystinuria, cblD type MIM#277410 Methylmalonic aciduria, cblD type, variant 2 MIM#277410 Tags treatable
Green MMADHC in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.594	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags treatable
Green MMADHC in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Homocystinuria, cblD type, variant 1 MIM#277410 Methylmalonic aciduria and homocystinuria, cblD type MIM#277410 Methylmalonic aciduria, cblD type, variant 2 MIM#277410 Disorders of cobalamin absorption, transport and metabolism Tags treatable
Red MMADHC in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 0.288 Component of the following Super Panels: Dystonia_Superpanel Progressive Neurological Conditions Tremors_Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Homocystinuria, cblD type, variant 1 MIM#277410
Green MMADHC in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3)
Green MMADHC in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, cblD type
Green MMADHC in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3)
Green MMADHC in Aminoacidopathy Level 2: Metabolic disorders Version 1.137 Component of the following Super Panels: Metabolic Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes methylmalonic aciduria and homocystinuria type cblD MONDO:0010185 Tags treatable
Green MMADHC in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Methylmalonic aciduria and homocystinuria, cblD type, MIM#277410 Tags treatable metabolic
Green MMADHC in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Homocystinuria, cblD type, variant 1 MIM#277410 Methylmalonic aciduria and homocystinuria, cblD type MIM#277410 Methylmalonic aciduria, cblD type, variant 2 MIM#277410 Disorders of cobalamin absorption, transport and metabolism
Green MMADHC in Vitamin metabolism disorders Level 2: Metabolic disorders Version 1.7 Component of the following Super Panels: Metabolic Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Homocystinuria, cblD type, variant 1 MIM#277410 Methylmalonic aciduria and homocystinuria, cblD type MIM#277410 Methylmalonic aciduria, cblD type, variant 2 MIM#277410 Disorders of cobalamin absorption, transport and metabolism Tags treatable