Congenital muscular dystrophy

Gene: JAG2

Amber List (moderate evidence)

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

2 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Promoting from grey to amber, but with a recommendation for a green rating at the next review. 13 cases reported with muscular dystrophy and variants in JAG2.
Created: 30 Jun 2021, 2:57 p.m. | Last Modified: 30 Jun 2021, 2:57 p.m.
Panel Version: 2.10
As expert reviewer states PMID: 33861953 (Coppens et al 2021) report 13 families with previously genetically unsolved muscular dystrophy in which rare homozygous or compound heterozygous JAG2 variants were identified by WES. Transcriptome analysis of muscle tissue from two participants suggested misregulation of genes involved in myogenesis, including PAX7.
Created: 30 Jun 2021, 2:55 p.m. | Last Modified: 30 Jun 2021, 2:55 p.m.
Panel Version: 2.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
muscular dystrophy, MONDO:0020121

Publications

Zornitza Stark (Australian Genomics)

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: 10 May 2021, 10:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
muscular dystrophy

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • muscular dystrophy, MONDO:0020121
Tags
Q2_21_rating
OMIM
602570
Clinvar variants
Variants in JAG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: jag2 has been classified as Amber List (Moderate Evidence).

30 Jun 2021, Gel status: 0

Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: JAG2.

30 Jun 2021, Gel status: 0

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: JAG2 were changed from muscular dystrophy to muscular dystrophy, MONDO:0020121

10 May 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: JAG2 was added gene: JAG2 was added to Congenital muscular dystrophy. Sources: Literature Mode of inheritance for gene: JAG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JAG2 were set to 33861953 Phenotypes for gene: JAG2 were set to muscular dystrophy Review for gene: JAG2 was set to GREEN gene: JAG2 was marked as current diagnostic