1. Panels
  2. Congenital muscular dystrophy and congenital myopathy
  3. ITGA7
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Congenital muscular dystrophy and congenital myopathy

Gene: ITGA7

Green List (high evidence)
ITGA7 (integrin subunit alpha 7)
EnsemblGeneIds (GRCh38): ENSG00000135424
EnsemblGeneIds (GRCh37): ENSG00000135424
OMIM: 600536, Gene2Phenotype
ITGA7 is in 5 panels

5 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 29 Apr 2019, 3:37 p.m.
Created: 29 Apr 2019, 3:37 p.m.

Copied from panel: Congenital muscular dystrophy v3.62

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital Muscular Dystrophy, ITGA7-related; Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204

Publications

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

Created: 29 Apr 2019, 3:27 p.m.

Copied from panel: Congenital muscular dystrophy v3.62

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

2 cases described and good functional evidece
Created: 26 Jan 2017, 4:07 p.m.
2 cases described and good functional evidece
Created: 26 Jan 2017, 4:07 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 26 Jan 2017, 4:07 p.m.

Copied from panel: Congenital muscular dystrophy v3.62

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted to green due to two reviewers in agreement.
Created: 27 Jan 2017, 1:56 p.m.
Comment on list classification: Borderline evidence two confirmed cases reported in PMID: 9590299, and mouse model evidence for the role of the protein. Expert review green.
Created: 25 Jan 2017, 12:38 p.m.
Created: 17 Jan 2017, 2:56 p.m.

Copied from panel: Congenital muscular dystrophy v3.62

Emma Clement (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital Muscular Dystrophy, ITGA7-related; Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204

Created: 19 Dec 2016, 11:47 a.m.

Copied from panel: Congenital muscular dystrophy v3.62

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London South GLH
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Muscular dystrophy, congenital, due to ITGA7 deficiency, OMIM:613204
OMIM
600536
Clinvar variants
Variants in ITGA7
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Feb 2023, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: ITGA7 was added gene: ITGA7 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Illumina TruGenome Clinical Sequencing Services,NHS GMS,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert Review Green,London South GLH Mode of inheritance for gene: ITGA7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITGA7 were set to 9590299; 18045857; 26076707 Phenotypes for gene: ITGA7 were set to Muscular dystrophy, congenital, due to ITGA7 deficiency, OMIM:613204 Penetrance for gene: ITGA7 were set to Complete