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Intellectual disability syndromic and non-syndromic

Gene: MCCC1

Amber List (moderate 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)

I don't know

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.
The relationship with clinical phenotype is being questioned based on NBS programs.
Created: 20 Sep 2023, 12:40 a.m. | Last Modified: 20 Sep 2023, 12:40 a.m.
Panel Version: 0.5475

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
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: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mccc1 has been classified as Amber List (Moderate Evidence).

20 Sep 2023, Gel status: 2

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: MCCC1 were changed from to 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200; Organic acidurias

20 Sep 2023, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: MCCC1 were set to

20 Sep 2023, Gel status: 2

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: MCCC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

20 Sep 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mccc1 has been classified as Amber List (Moderate Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MCCC1 was added gene: MCCC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MCCC1 was set to Unknown