Cardiomyopathy_Paediatric
Gene: MIPEPEnsemblGeneIds (GRCh38): ENSG00000027001
EnsemblGeneIds (GRCh37): ENSG00000027001
OMIM: 602241, Gene2Phenotype
MIPEP is in 3 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 31, MIM# 617228
John Christodoulou (Murdoch Children's Research Institute)
4 unrelated cases reported in one paper with functional supportive evidence
see OMIM 617228
Sources: LiteratureCreated: 15 Apr 2021, 6:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
cardiomyopathy; left ventricular noncompaction; seizures; hypotonia; dev delay; cataracts
Publications
- PMID: 27799064
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 31, MIM# 617228
- cardiomyopathy
- left ventricular noncompaction
- seizures
- hypotonia
- dev delay
- cataracts
- OMIM
- 602241
- Clinvar variants
- Variants in MIPEP
- Penetrance
- Complete
- Publications
-
- PMID: 27799064
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mipep has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MIPEP were changed from cardiomyopathy; left ventricular noncompaction; seizures; hypotonia; dev delay; cataracts to Combined oxidative phosphorylation deficiency 31, MIM# 617228; cardiomyopathy; left ventricular noncompaction; seizures; hypotonia; dev delay; cataracts
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mipep has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
John Christodoulou (Murdoch Children's Research Institute)gene: MIPEP was added gene: MIPEP was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: MIPEP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MIPEP were set to PMID: 27799064 Phenotypes for gene: MIPEP were set to cardiomyopathy; left ventricular noncompaction; seizures; hypotonia; dev delay; cataracts Penetrance for gene: MIPEP were set to Complete Review for gene: MIPEP was set to GREEN