MCCC1

methylcrotonoyl-CoA carboxylase 1
OMIM: 609010, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green MCCC1 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 1 deficiency MIM#210200 Organic acidurias
Amber MCCC1 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 1 deficiency MIM#210200 Organic acidurias
Amber MCCC1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BabySeq Category B gene Phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency
Green MCCC1 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 1 deficiency MIM#210200 Organic acidurias
Red MCCC1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency (MIM#210200)
Green MCCC1 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 MCCC1 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 1 deficiency MIM#210200