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Prepair 1000+

Gene: MCCC1

Red List (low evidence)

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

3 reviews

Michelle Torres (Victorian Clinical Genetics Services)

Red List (low evidence)

The relationship to clinical phenotype remains questionable by NBS programs (PMID:s 31730530 & 39188588).
Created: 14 Jan 2025, 3:45 a.m. | Last Modified: 14 Jan 2025, 3:45 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Questionable association with clinical disease, not suitable for screening panel.
Created: 28 Jul 2022, 8:14 a.m. | Last Modified: 28 Jul 2022, 8:14 a.m.
Panel Version: 0.91

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-Methylcrotonyl-CoA carboxylase 1 deficiency (MIM#210200)

Crystle Lee (Victorian Clinical Genetics Services)

Red List (low evidence)

Highly variable phenotype. May present in infancy but also be present in asymptomatic adults (OMIM)

Variants in this gene cause a biochemical defect. The relationship to clinical phenotype has been questioned by NBS programs, PMID 31730530.
Sources: Literature
Created: 26 Jul 2022, 1:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-Methylcrotonyl-CoA carboxylase 1 deficiency (MIM#210200)

Publications

Details

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

History Filter Activity

28 Jul 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mccc1 has been classified as Red List (Low Evidence).

28 Jul 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mccc1 has been classified as Red List (Low Evidence).

26 Jul 2022, Gel status: 0

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

Crystle Lee (Victorian Clinical Genetics Services)

gene: MCCC1 was added gene: MCCC1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCCC1 were set to 31730530 Phenotypes for gene: MCCC1 were set to 3-Methylcrotonyl-CoA carboxylase 1 deficiency (MIM#210200) Review for gene: MCCC1 was set to RED