Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: JAG2

Green List (high evidence)

JAG2 (jagged 2)
EnsemblGeneIds (GRCh38): ENSG00000184916
EnsemblGeneIds (GRCh37): ENSG00000184916
OMIM: 602570, Gene2Phenotype
JAG2 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 27, MIM# 619566

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

Whole-exome sequencing identified 13 families with rare homozygous or compound heterozygous JAG2 variants. Bi-allelic variants include 10 missense variants that disrupt highly conserved amino acids, a nonsense variant, two frameshift variants, an in-frame deletion, and a microdeletion encompassing JAG2. Onset of muscle weakness occurred from infancy to young adulthood. Serum creatine kinase (CK) levels were normal or mildly elevated. Muscle histology was primarily dystrophic. MRI of the lower extremities revealed a distinct, slightly asymmetric pattern of muscle involvement with cores of preserved and affected muscles in quadriceps and tibialis anterior, in some cases resembling patterns seen in POGLUT1-associated muscular dystrophy.
Sources: Literature
Created: 3 May 2021, 6:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
muscular dystrophy

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • muscular dystrophy, limb-girdle, autosomal recessive 27 MONDO:0030456
OMIM
602570
Clinvar variants
Variants in JAG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: jag2 has been classified as Green List (High Evidence).

30 Sep 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: JAG2 were set to

30 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: jag2 has been classified as Green List (High Evidence).

30 Sep 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: JAG2 was added gene: JAG2 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Other Mode of inheritance for gene: JAG2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: JAG2 were set to muscular dystrophy, limb-girdle, autosomal recessive 27 MONDO:0030456