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Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: POPDC3

Green List (high evidence)
POPDC3 (popeye domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000132429
EnsemblGeneIds (GRCh37): ENSG00000132429
OMIM: 605824, Gene2Phenotype
POPDC3 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

5 affected individuals from 3 unrelated families reported, supportive animal model data. Presentation was between adolescence and 40s with proximal muscle weakness primarily affecting the lower limbs, resulting in increased falls and difficulty running. The disorder was slowly progressive, with later involvement of the upper limbs. MRI showed fatty replacement of the thigh muscles and medial gastrocnemius, with some paraspinal muscles also affected. Some patients had calf hypertrophy. Serum CK was markedly elevated.
Sources: Literature
Created: 19 Jun 2021, 2:11 a.m. | Last Modified: 19 Jun 2021, 2:24 a.m.
Panel Version: 0.59

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 26, MIM# 618848

Publications

Created: 19 Jun 2021, 2:11 a.m.
Last Modified: 19 Jun 2021, 2:24 a.m.
Panel version: 0.58

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 26, MIM# 618848
OMIM
605824
Clinvar variants
Variants in POPDC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: popdc3 has been classified as Green List (High Evidence).

19 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: popdc3 has been classified as Green List (High Evidence).

19 Jun 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: POPDC3 was added gene: POPDC3 was added to Limb Girdle Muscular Dystrophy. Sources: Literature Mode of inheritance for gene: POPDC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POPDC3 were set to 31610034 Phenotypes for gene: POPDC3 were set to Muscular dystrophy, limb-girdle, autosomal recessive 26, MIM# 618848 Review for gene: POPDC3 was set to GREEN