Cerebral Palsy
Gene: MUT
MUT (methylmalonyl-CoA mutase)
EnsemblGeneIds (GRCh38): ENSG00000146085
EnsemblGeneIds (GRCh37): ENSG00000146085
OMIM: 609058, Gene2Phenotype
MUT is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000146085
EnsemblGeneIds (GRCh37): ENSG00000146085
OMIM: 609058, Gene2Phenotype
MUT is in 15 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual reported with homozygous pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Methylmalonic aciduria has a broad clinical spectrum, with neurologic manifestations, such as seizure, encephalopathy, and stroke, frequently reported.
Sources: LiteratureCreated: 19 Jun 2024, 4:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Methylmalonic aciduria, MIM#251000
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Methylmalonic aciduria, MIM#251000
- OMIM
- 609058
- Clinvar variants
- Variants in MUT
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
-
- Stroke
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cardiomyopathy_Paediatric
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Regression
- Aminoacidopathy
- Additional findings_Paediatric
- Mendeliome
- Hyperammonaemia
- Renal Tubulopathies and related disorders
- Prepair 500+
- Cerebral Palsy
- Vitamin metabolism disorders
History Filter Activity
26 Jun 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mut has been classified as Red List (Low Evidence).
26 Jun 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mut has been classified as Red List (Low Evidence).
19 Jun 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: MUT was added gene: MUT was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MUT were set to PMID: 38693247 Phenotypes for gene: MUT were set to Methylmalonic aciduria, MIM#251000 Review for gene: MUT was set to AMBER