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Newborns main panel

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

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://search.clinicalgenome.org/kb/genes/HGNC:6936
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • 3-Methylcrotonyl-CoA carboxylase 1 deficiency
OMIM
609010
Clinvar variants
Variants in MCCC1
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to MCCC1. Added phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency for gene: MCCC1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to MCCC1. Added phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency for gene: MCCC1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to MCCC1. Added phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency for gene: MCCC1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to MCCC1. Added phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency for gene: MCCC1 Rating Changed from No List (delete) to Green List (high evidence)

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: MCCC1 was added gene: MCCC1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCCC1 were set to 3-Methylcrotonyl-CoA carboxylase 1 deficiency