Congenital Myasthenia
Gene: PLECEnsemblGeneIds (GRCh38): ENSG00000178209
EnsemblGeneIds (GRCh37): ENSG00000178209
OMIM: 601282, Gene2Phenotype
PLEC is in 11 panels
1 review
Kunal Verma (Royal Melbourne Hospital)
5 patients from three independent families; all had EB, some additionally had muscular dystrophy.
Sources: Expert listCreated: 12 Feb 2020, 2:54 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
epidermolysis bullosa; congenital myasthenic syndrome
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- epidermolysis bullosa
- congenital myasthenic syndrome
- OMIM
- 601282
- Clinvar variants
- Variants in PLEC
- Penetrance
- None
- Publications
- Panels with this gene
-
- Muscular dystrophy and myopathy_Paediatric
- Mackenzie's Mission_Reproductive Carrier Screening
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Fetal anomalies
- Congenital Myasthenia
- Additional findings_Paediatric
- Prepair 1000+
- Cholestasis
- Mendeliome
- BabyScreen+ newborn screening
- Epidermolysis bullosa
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: plec has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: plec has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Kunal Verma (Royal Melbourne Hospital)gene: PLEC was added gene: PLEC was added to Congenital Myaesthenic Syndrome_RMH. Sources: Expert list Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLEC were set to 31509265; 21263134; 20624679 Phenotypes for gene: PLEC were set to epidermolysis bullosa; congenital myasthenic syndrome Review for gene: PLEC was set to GREEN