Congenital muscular dystrophy and congenital myopathy
Gene: PABPN1EnsemblGeneIds (GRCh38): ENSG00000100836
EnsemblGeneIds (GRCh37): ENSG00000100836
OMIM: 602279, Gene2Phenotype
PABPN1 is in 3 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Demoted from green to red due to expert review.Created: 19 Dec 2016, 12:42 p.m.
Emma Clement (Great Ormond Street Hospital)
not a CMD presentationCreated: 19 Dec 2016, 11:47 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Oculopharyngeal muscular dystrophy, 164300; Oculopharyngeal muscular dystrophy
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Radboud University Medical Center, Nijmegen
- Expert Review Red
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- Oculopharyngeal muscular dystrophy, OMIM:164300
- Tags
- OMIM
- 602279
- Clinvar variants
- Variants in PABPN1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Created, Added New Source, Added Tag, Set mode of inheritance, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: PABPN1 was added gene: PABPN1 was added to Congenital muscular dystrophy and congenital myopathy. Sources: UKGTN,Emory Genetics Laboratory,Expert Review Red,Radboud University Medical Center, Nijmegen nucleotide-repeat-expansion tags were added to gene: PABPN1. Mode of inheritance for gene: PABPN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PABPN1 were set to Oculopharyngeal muscular dystrophy, OMIM:164300 Penetrance for gene: PABPN1 were set to Complete