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Miscellaneous Metabolic Disorders

Gene: MCCC1

Green List (high evidence)
MCCC1 (methylcrotonoyl-CoA carboxylase 1)
EnsemblGeneIds (GRCh38): ENSG00000078070
EnsemblGeneIds (GRCh37): ENSG00000078070
OMIM: 609010, Gene2Phenotype
MCCC1 is in 7 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

3-Methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inborn defect of leucine catabolism caused by biallelic variants in MCCC1 or MCCC2. 3-MCCD is considered to be a relatively benign disorder with a favourable outcome. In a Chinese study, 53 cases with 3-MCCD identified by NBS had no clinical symptoms. 23/53 patients had secondary carnitine deficiency. 28 had biallelic variants in MCCC1 and 25 had biallelic variants in MCCC2.
Created: 20 Sep 2023, 12:42 a.m. | Last Modified: 20 Sep 2023, 12:42 a.m.
Panel Version: 1.30

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200; Organic acidurias

Publications

Created: 20 Sep 2023, 12:42 a.m.
Last Modified: 20 Sep 2023, 12:42 a.m.
Panel version: 1.30

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200
  • Organic acidurias
OMIM
609010
Clinvar variants
Variants in MCCC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Sep 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: MCCC1 were set to 27604308; 11170888

5 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mccc1 has been classified as Green List (High Evidence).

5 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mccc1 has been classified as Green List (High Evidence).

5 Feb 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: MCCC1 was added gene: MCCC1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCCC1 were set to 27604308; 11170888 Phenotypes for gene: MCCC1 were set to 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200; Organic acidurias Review for gene: MCCC1 was set to GREEN gene: MCCC1 was marked as current diagnostic