Mackenzie's Mission_Reproductive Carrier Screening
Gene: SPEG

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

2 reviews

Seb Lunke (Victorian Clinical Genetics Services)

Comment on list classification: Agreed green gene, update gene selection committee at next meeting.
Created: 29 Oct 2020, 3:16 a.m. | Last Modified: 29 Oct 2020, 3:16 a.m.

Panel Version: 0.36

Created: 29 Oct 2020, 3:16 a.m.
Last Modified: 29 Oct 2020, 3:16 a.m.
Panel version: 0.36

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.
Sources: Expert Review
Created: 16 Oct 2020, 9:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Centronuclear myopathy 5, MIM# 615959

Publications

Created: 16 Oct 2020, 9:14 a.m.

Panel version: 0.32

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review

Phenotypes

Centronuclear myopathy 5, MIM# 615959

OMIM

615950

Clinvar variants

Variants in SPEG

Penetrance

None

Publications

Panels with this gene

History Filter Activity

29 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: speg has been classified as Green List (High Evidence).

16 Oct 2020, 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 Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPEG were set to 25087613; 31625632; 30412272; 30157964; 29614691; 29474540; 28624463; 26578207; 25087613 Phenotypes for gene: SPEG were set to Centronuclear myopathy 5, MIM# 615959 Review for gene: SPEG was set to GREEN

Mackenzie's Mission_Reproductive Carrier Screening Gene: SPEG