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Fetal anomalies

Gene: PLEC

Green List (high evidence)

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

1 review

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

Multiple variations of EB and also associated with limb-girdle muscular dystrophy. Neonatal to Early childhood onset. However, Epidermolysis bullosa simplex 5C, with pyloric atresia MIM#612138 has prenatal manifestation of Polyhydramnios.
Sources: Literature
Created: 25 Feb 2022, 5:09 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa simplex 5C, with pyloric atresia MIM#612138; Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670; Epidermolysis bullosa simplex 5A, Ogna type MIM#131950; Muscular dystrophy, limb-girdle, autosomal recessive 17 (MIM#613723)

Publications

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa simplex 5C, with pyloric atresia MIM#612138
  • Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670
  • Epidermolysis bullosa simplex 5A, Ogna type MIM#131950
  • 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

28 Feb 2022, 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).

28 Feb 2022, 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).

25 Feb 2022, Gel status: 0

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

Belinda Chong (Victorian Clinical Genetics Services)

gene: PLEC was added gene: PLEC was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PLEC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PLEC were set to 22144912; 31509265; 21263134; 20624679; 20624679; 21109228; 28824526 Phenotypes for gene: PLEC were set to Epidermolysis bullosa simplex 5C, with pyloric atresia MIM#612138; Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670; Epidermolysis bullosa simplex 5A, Ogna type MIM#131950; Muscular dystrophy, limb-girdle, autosomal recessive 17 (MIM#613723) Review for gene: PLEC was set to GREEN gene: PLEC was marked as current diagnostic