Limb-Girdle Muscular Dystrophy and Distal Myopathy
STR: PABPN1_OPMD_GCN
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 listCreated: 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 RelevantInterruptions in the repeated sequence are reported as part of standard diagnostic practise
Str: pabpn1_opmd_gcn has been classified as Green List (High Evidence).
Str: pabpn1_opmd_gcn has been classified as Green List (High Evidence).
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