Muscular dystrophy and myopathy_Paediatric

Gene: PLEC

Green List (high evidence)

PLEC (plectin)
EnsemblGeneIds (GRCh38): ENSG00000178209
EnsemblGeneIds (GRCh37): ENSG00000178209
OMIM: 601282, Gene2Phenotype
PLEC is in 11 panels

4 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Crystle Lee (Victorian Clinical Genetics Services)

Onset in early childhood (OMIM).

PMID: 20624679: Reported 1 patient with congenital muscular dystrophy, hypotonia and elevated CK.

PMID: 21109228: Same homozygous variant affecting isoform 1f reported in 3 families. 2 affected members of one family reported as having early onset LMGD. Authors note that PLEC is usually associated with late-onset progressive muscle dystrophy.

PMID: 28824526: 1 patient reported with early childhood onset. Variant affects isoform 1f.


Rated GREEN in CMD (PanelApp UK)
Sources: Expert Review
Created: 24 Jun 2020, 3:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 17 (MIM#613723)

Publications

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 3 families reported with limb-girdle muscular dystrophy
Sources: Expert Review
Created: 24 Feb 2020, 6:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 17 MIM#613723

Publications

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

All from OMIM:

- ?Epidermolysis bullosa simplex with nail dystrophy (EBSND – PTCs mutations in isoform-1a)
- Epidermolysis bullosa simplex with muscular dystrophy (EBSMD – expression of the N- and C-terminal domains of plectin remained detectable, although the expression of rod domains was absent or markedly reduced, mutations within exon 31)
- Epidermolysis bullosa simplex with pyloric atresia (EBSPA – entire protein expression severely reduced or completely lost, mutations outside of exon 31)
- Epidermolysis bullosa simplex, Ogna type (EBSO – Recurring missense (p.R2000W), occurs both in familial cases and de novo)
- Muscular dystrophy, limb-girdle, autosomal recessive 17 (LGMD – Mutations in isoform-1f)

Ogna type recurring missense also LOF (PMID: 22144912)
Created: 7 Feb 2020, 5:14 a.m. | Last Modified: 7 Feb 2020, 5:14 a.m.
Panel Version: 0.1289

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
?Epidermolysis bullosa simplex with nail dystrophy; Epidermolysis bullosa simplex with muscular dystrophy; Epidermolysis bullosa simplex with pyloric atresia; Epidermolysis bullosa simplex, Ogna type; Muscular dystrophy, limb-girdle

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 17 (MIM#613723)
OMIM
601282
Clinvar variants
Variants in PLEC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Jun 2020, Gel status: 0

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

Crystle Lee (Victorian Clinical Genetics Services)

gene: PLEC was added gene: PLEC was added to Muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLEC were set to 20624679; 21109228; 28824526 Phenotypes for gene: PLEC were set to Muscular dystrophy, limb-girdle, autosomal recessive 17 (MIM#613723)