MCCC2

methylcrotonoyl-CoA carboxylase 2
OMIM: 609014, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Amber MCCC2 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency, MIM#210210
Green MCCC2 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210 Organic acidurias
Amber MCCC2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency (MIM#210210)
Red MCCC2 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category B gene Phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency
Green MCCC2 in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.46 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210 Organic acidurias
Red MCCC2 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency (MIM#210210)
Green MCCC2 in Aminoacidopathy Level 2: Metabolic disorders Version 1.128 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0018950
Red MCCC2 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category B gene BeginNGS Phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210