1. Panels
  2. Congenital muscular dystrophy and congenital myopathy
  3. SPEG
STRs in panel
Prev Next

Congenital muscular dystrophy and congenital myopathy

Gene: SPEG

Green List (high evidence)
SPEG (SPEG complex locus)
EnsemblGeneIds (GRCh38): ENSG00000072195
EnsemblGeneIds (GRCh37): ENSG00000072195
OMIM: 615950, Gene2Phenotype
SPEG is in 7 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 30 Apr 2019, 10:09 a.m.
Created: 30 Apr 2019, 10:09 a.m.

Copied from panel: Congenital myopathy v3.95

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Centronuclear myopathy 5 615959

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 30 Apr 2019, 10:05 a.m.

Copied from panel: Congenital myopathy v3.95

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

it is going to be added in the new diagnostic panel
Created: 6 Mar 2017, 12:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Centronuclear myopathy 5 615959

Publications

Created: 6 Mar 2017, 12:14 p.m.

Copied from panel: Congenital myopathy v3.95

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: 3 separate families. Phenotype consistent with inclusion criteria.
Created: 16 Feb 2017, 2:33 p.m.
3 families (unrelated) with biallelic mutations and severe phenotype including congenital weakness
Created: 16 Feb 2017, 2:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Centronuclear myopathy 5 615959

Publications

Created: 16 Feb 2017, 2:32 p.m.

Copied from panel: Congenital myopathy v3.95

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London South GLH
  • Literature
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Centronuclear myopathy 5, OMIM:615959
OMIM
615950
Clinvar variants
Variants in SPEG
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Feb 2023, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: SPEG was added gene: SPEG was added to Congenital muscular dystrophy and congenital myopathy. Sources: NHS GMS,Expert Review Green,Literature,London South GLH Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPEG were set to 25087613 Phenotypes for gene: SPEG were set to Centronuclear myopathy 5, OMIM:615959 Penetrance for gene: SPEG were set to Complete