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  3. PABPN1
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Arthrogryposis

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 2 panels

3 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: No association with arthrogryposis
Created: 22 Dec 2016, 4:09 p.m.
Created: 22 Dec 2016, 4:09 p.m.

Panel version: 1.109

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.
Created: 19 Dec 2016, 12:42 p.m.

Panel version: Imported from "Congenital muscular dystrophy" panel version 0.3

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

Created: 19 Dec 2016, 11:47 a.m.

Panel version: Imported from "Congenital muscular dystrophy" panel version 0.0

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Oculopharyngeal muscular dystrophy, 164300
  • Oculopharyngeal muscular dystrophy
OMIM
602279
Clinvar variants
Variants in PABPN1
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

22 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

21 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PABPN1 was added to Arthrogryposispanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,,Expert Review Red

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PABPN1 was created by ellenmcdonagh