Cerebral Palsy
Gene: MCCC2EnsemblGeneIds (GRCh38): ENSG00000131844
EnsemblGeneIds (GRCh37): ENSG00000131844
OMIM: 609014, Gene2Phenotype
MCCC2 is in 8 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual reported with homozygous likely pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. MCC2D is an autosomal recessive disorder of leucine catabolism. Highly variable clinical phenotype ranging from neonatal onset with severe neurologic involvement to asymptomatic adults. Additional individuals with a clinical diagnosis of CP or overlapping clinical presentation can be found in the literature (e.g. PMID: 9187484, PMID: 10485305)
Sources: LiteratureCreated: 19 Jun 2024, 3:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-Methylcrotonyl-CoA carboxylase 2 deficiency, MIM#210210
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- 3-Methylcrotonyl-CoA carboxylase 2 deficiency, MIM#210210
- OMIM
- 609014
- Clinvar variants
- Variants in MCCC2
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mccc2 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mccc2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: MCCC2 was added gene: MCCC2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCCC2 were set to PMID: 38693247 Phenotypes for gene: MCCC2 were set to 3-Methylcrotonyl-CoA carboxylase 2 deficiency, MIM#210210 Review for gene: MCCC2 was set to AMBER