Congenital muscular dystrophy
Gene: PABPN1Comment on list classification: Demoted from green to red due to expert review.Created: 19 Dec 2016, 12:42 p.m.
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
Source was removed from PABPN1.
Phenotypes for gene: PABPN1 were changed from Oculopharyngeal muscular dystrophy, 164300; Oculopharyngeal muscular dystrophy to Oculopharyngeal muscular dystrophy, OMIM:164300
27.01.2017 Panel revised after expert review and internal review with further curation.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
PABPN1 was added to Congenital muscular dystrophypanel. Source:
Model of inheritance for gene PABPN1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
PABPN1 was added to Congenital muscular dystrophypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Model of inheritance for gene PABPN1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
PABPN1 was added to Congenital muscular dystrophypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
PABPN1 was added to Congenital muscular dystrophypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory