Congenital muscular dystrophy

Gene: PABPN1

Red List (low evidence)

PABPN1 (poly(A) binding protein nuclear 1)
EnsemblGeneIds (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)

Red List (low evidence)

not a CMD presentation
Created: 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
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Oculopharyngeal muscular dystrophy, 164300
  • Oculopharyngeal muscular dystrophy
Tags
nucleotide-repeat-expansion
OMIM
602279
Clinvar variants
Variants in PABPN1
Penetrance
Complete
Panels with this gene

History Filter Activity

27 Jan 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27.01.2017 Panel revised after expert review and internal review with further curation.

19 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

19 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

19 Dec 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PABPN1 was added to Congenital muscular dystrophypanel. Source:

23 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PABPN1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

23 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PABPN1 was added to Congenital muscular dystrophypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

23 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PABPN1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

23 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PABPN1 was added to Congenital muscular dystrophypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

23 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PABPN1 was added to Congenital muscular dystrophypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory