Cholestasis
Gene: PLECEnsemblGeneIds (GRCh38): ENSG00000178209
EnsemblGeneIds (GRCh37): ENSG00000178209
OMIM: 601282, Gene2Phenotype
PLEC is in 11 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Four individuals reported with PFIC and bi-allelic variants in PLEC (one pair of sibs, and two other unrelated infants). However, limited functional data and several of the variants are missense.
Sources: LiteratureCreated: 5 Sep 2024, 1:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Progressive familial intrahepatic cholestasis, MONDO:0015762, PLEC-related
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Progressive familial intrahepatic cholestasis, MONDO:0015762, PLEC-related
- 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 Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: plec has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PLEC was added gene: PLEC was added to Cholestasis. Sources: Literature Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLEC were set to 39168815 Phenotypes for gene: PLEC were set to Progressive familial intrahepatic cholestasis, MONDO:0015762, PLEC-related Review for gene: PLEC was set to AMBER