Additional findings_Paediatric
Gene: SPEG

SPEG (SPEG complex locus)
EnsemblGeneIds (GRCh38): ENSG00000072195
EnsemblGeneIds (GRCh37): ENSG00000072195
OMIM: 615950, Gene2Phenotype
SPEG is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Centronuclear myopathy-5 is an autosomal recessive congenital myopathy characterized by severe neonatal hypotonia with respiratory insufficiency and difficulty feeding. Some individuals die in infancy, and some develop dilated cardiomyopathy. More than 10 unrelated families reported, functional data.
Created: 16 Oct 2020, 9:11 a.m. | Last Modified: 16 Oct 2020, 9:11 a.m.

Panel Version: 0.128

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Centronuclear myopathy 5, MIM# 615959

Publications

Created: 16 Oct 2020, 9:11 a.m.
Last Modified: 16 Oct 2020, 9:11 a.m.
Panel version: 0.128

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
BabySeq Category C gene

Phenotypes

Centronuclear myopathy 5, MIM# 615959

OMIM

615950

Clinvar variants

Variants in SPEG

Penetrance

None

Publications

Panels with this gene