Cardiomyopathy_Paediatric
Gene: SPEG
SPEG (SPEG complex locus)
EnsemblGeneIds (GRCh38): ENSG00000072195
EnsemblGeneIds (GRCh37): ENSG00000072195
OMIM: 615950, Gene2Phenotype
SPEG is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000072195
EnsemblGeneIds (GRCh37): ENSG00000072195
OMIM: 615950, Gene2Phenotype
SPEG is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Reports of early onset isolated DCM, as well as cardiomyopathy in the context of skeletal myopathy.
Sources: LiteratureCreated: 7 May 2021, 3:16 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dilated cardiomyopathy; centronuclear myopathy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Dilated cardiomyopathy
- centronuclear myopathy
- OMIM
- 615950
- Clinvar variants
- Variants in SPEG
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
7 May 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: speg has been classified as Green List (High Evidence).
7 May 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: speg has been classified as Green List (High Evidence).
7 May 2021, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SPEG was added gene: SPEG was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPEG were set to 32925938; 33794647 Phenotypes for gene: SPEG were set to Dilated cardiomyopathy; centronuclear myopathy Review for gene: SPEG was set to GREEN