Aminoacidopathy
Gene: MCCC2EnsemblGeneIds (GRCh38): ENSG00000131844
EnsemblGeneIds (GRCh37): ENSG00000131844
OMIM: 609014, Gene2Phenotype
MCCC2 is in 8 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Variants in this gene cause a biochemical defect. Relationship to clinical features is less certain.Created: 17 May 2022, 9:53 a.m. | Last Modified: 17 May 2022, 9:53 a.m.
Panel Version: 0.14435
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210; Organic acidurias
Publications
Bryony Thompson (Royal Melbourne Hospital)
Well-established gene-disease association(see OMIM entry). 3-methylcrotonyl-CoA carboxylase deficiency (3-MCC deficiency)y is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders) and is an inborn error of leucine metabolism.
Sources: NHS GMSCreated: 5 Feb 2021, 11:39 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210; Organic acidurias
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- NHS GMS
- Victorian Clinical Genetics Services
- Phenotypes
-
- 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0018950
- OMIM
- 609014
- Clinvar variants
- Variants in MCCC2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mccc2 has been classified as Green List (High Evidence).
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: MCCC2 were set to 29152456
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mccc2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: MCCC2 was added gene: MCCC2 was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCCC2 were set to 29152456 Phenotypes for gene: MCCC2 were set to 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0018950