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Prepair 1000+

Gene: PLEC

Green List (high evidence)

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

1 review

Lauren Thomas (VIctorian Clinical Genetics Services)

Green List (high evidence)

PLEC was first reported in relation to autosomal recessive limb-girdle muscular dystrophy which is typically characterized by early childhood onset of proximal muscle weakness and atrophy, notably without skin involvement. PLEC has also been noted to be associated with epidermolysis bullosa 5A-5D.

ClinGen: The molecular mechanisms underlying EBS with muscular dystrophy (EBS5B) has primarily been nonsense, out-of-frame insertions or deletions within exon 31 and 32, leading to premature protein termination. The mechanism underlying autosomal recessive limb-girdle muscular dystrophy appears to be recessive truncating variants in exon 1f.

HGNC approved symbol/name: PLEC
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? For AR limb-girdle muscular dystrophy, a 9-bp deletion has been reported in seven probands in two publications (PMIDs: 21109228, 32605089)
Gene reported in 3 independent families: Yes

NOTE: AD phenotype - Epidermolysis bullosa simplex 5A, Ogna type MIM# 131950
Created: 3 Mar 2025, 5:15 a.m. | Last Modified: 3 Mar 2025, 5:16 a.m.
Panel Version: 1.1566

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive, MIM# 616487; Epidermolysis bullosa simplex 5B, with muscular dystrophy, MIM# 226670; Epidermolysis bullosa simplex 5C, with pyloric atresia MIM# 612138; Muscular dystrophy, limb-girdle, autosomal recessive 17, MIM# 613723

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epidermolysis bullosa simplex with pyloric atresia, 612138 (3)
OMIM
601282
Clinvar variants
Variants in PLEC
Penetrance
None
Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PLEC was added gene: PLEC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLEC were set to Epidermolysis bullosa simplex with pyloric atresia, 612138 (3)