Limb-Girdle Muscular Dystrophy and Distal Myopathy

STR: PABPN1_OPMD_GCN

Green List (high evidence)

Chromosome: 14
GRCh37 Position: 23790682-23790711
GRCh38 Position: 23321473-23321502
Repeated Sequence: GCN
Normal Number of Repeats: < or = 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 5 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: 26 Apr 2025, 11:58 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Oculopharyngeal muscular dystrophy MIM#164300

Publications

Variants in this STR are reported as part of current diagnostic practice

Clinically Relevant

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

Details

Name
PABPN1_OPMD_GCN
Chromosome
14
GRCh37 Coordinates
23790682-23790711
GRCh38 Coordinates
23321473-23321502
Repeated Sequence
GCN
Normal Number of Repeats: < or =
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
OMIM
602279
Clinvar variants
Variants in PABPN1
Penetrance
None
Publications

History Filter Activity

26 Apr 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: pabpn1_opmd_gcn has been classified as Green List (High Evidence).

26 Apr 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: pabpn1_opmd_gcn has been classified as Green List (High Evidence).

26 Apr 2025, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

STR: PABPN1_OPMD_GCN was added STR: PABPN1_OPMD_GCN was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Expert list Mode of inheritance for STR: PABPN1_OPMD_GCN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for STR: PABPN1_OPMD_GCN were set to 9462747; 20301305 Phenotypes for STR: PABPN1_OPMD_GCN were set to Oculopharyngeal muscular dystrophy MIM#164300 Review for STR: PABPN1_OPMD_GCN was set to GREEN STR: PABPN1_OPMD_GCN was marked as clinically relevant STR: PABPN1_OPMD_GCN was marked as current diagnostic