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Repeat Disorders

STR: OPMD

Green List (high evidence)
Chromosome: 14
GRCh37 Position: 23790682-23790711
GRCh38 Position: 23321473-23321502
Repeated Sequence: GCN
Normal Number of Repeats: < 10
Pathogenic Number of Repeats: = or > 11

PABPN1 (poly(A) binding protein nuclear 1)
EnsemblGeneIds (GRCh38): ENSG00000100836
EnsemblGeneIds (GRCh37): ENSG00000100836
OMIM: 602279, Gene2Phenotype
PABPN1 is in 0 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

NM_004643.3:c.4_6[X]
Expected gain of function mechanism of disease
Normal allele: (GCN)10 / Ala10
Autosomal recessive: (GCN)11/Ala11
Autosomal dominant: (GCN)12-17
Sources: Expert list
Created: 20 Jun 2021, 1:39 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Oculopharyngeal muscular dystrophy MIM#164300

Publications

Clinically Relevant

Interruptions in the repeated sequence are reported as part of standard diagnostic practise

Created: 20 Jun 2021, 1:39 a.m.

Panel version: 0.21

Details

Name
OPMD
Chromosome
14
GRCh37 Coordinates
23790682-23790711
GRCh38 Coordinates
23321473-23321502
Repeated Sequence
GCN
Normal Number of Repeats: <
10
Pathogenic Number of Repeats: = or >
11
Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Oculopharyngeal muscular dystrophy MIM#164300
Tags
adult-onset
OMIM
602279
Clinvar variants
Variants in PABPN1
Penetrance
None
Publications

History Filter Activity

7 Sep 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag adult-onset tag was added to STR: OPMD.

20 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: opmd has been classified as Green List (High Evidence).

20 Jun 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

STR: OPMD was added STR: OPMD was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: OPMD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for STR: OPMD were set to 9462747; 20301305 Phenotypes for STR: OPMD were set to Oculopharyngeal muscular dystrophy MIM#164300 Review for STR: OPMD was set to GREEN STR: OPMD was marked as clinically relevant