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Additional findings_Paediatric

Gene: SPEG

Green List (high evidence)

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

History Filter Activity

16 Oct 2020, 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).

16 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SPEG were changed from Centronuclear myopathy with dilated cardiomyopathy to Centronuclear myopathy 5, MIM# 615959

16 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SPEG were set to

16 Oct 2020, 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).

27 Aug 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SPEG was added gene: SPEG was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPEG were set to Centronuclear myopathy with dilated cardiomyopathy