Stroke
Gene: MUTEnsemblGeneIds (GRCh38): ENSG00000146085
EnsemblGeneIds (GRCh37): ENSG00000146085
OMIM: 609058, Gene2Phenotype
MUT is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Haemorrhagic and ischaemic stroke reported.Created: 17 Mar 2021, 3:04 a.m. | Last Modified: 17 Mar 2021, 3:04 a.m.
Panel Version: 0.88
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Methylmalonic aciduria, mut(0) type, MIM# 251000
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, MIM# 251000
- Tags
- OMIM
- 609058
- Clinvar variants
- Variants in MUT
- Penetrance
- None
- 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
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: MUT.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mut has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MUT were changed from Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency to Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, MIM# 251000
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: MUT was added gene: MUT was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MUT were set to Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency