Congenital muscular dystrophy

Gene: ITGA7

Green List (high evidence)

ITGA7 (integrin subunit alpha 7)
EnsemblGeneIds (GRCh38): ENSG00000135424
EnsemblGeneIds (GRCh37): ENSG00000135424
OMIM: 600536, Gene2Phenotype
ITGA7 is in 7 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.

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

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

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.

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • 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

Removed Source

Arina Puzriakova (Genomics England Curator)

Source was removed from ITGA7.

3 Feb 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ITGA7 were changed from Congenital Muscular Dystrophy, ITGA7-related; Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 to Muscular dystrophy, congenital, due to ITGA7 deficiency, OMIM:613204

29 Apr 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ITGA7 were changed from 9590299; 26076707; 18045857 to 9590299; 18045857; 26076707

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ITGA7.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to ITGA7. Rating Changed from Green List (high evidence) to Green List (high evidence)

27 Jan 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27.01.2017 Panel revised after expert review and internal review with further curation.

27 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

17 Jan 2017, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ITGA7 were set to 9590299; 26076707; 18045857

17 Jan 2017, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ITGA7 were set to 9590299; 26076707; 18045857

17 Jan 2017, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ITGA7 were set to 9590299; 26076707; 18045857

17 Jan 2017, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ITGA7 were set to 26076707;18045857

17 Jan 2017, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ITGA7 were set to 26076707

19 Dec 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

ITGA7 was added to Congenital muscular dystrophypanel. Source:

23 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ITGA7 was changed to BIALLELIC, autosomal or pseudoautosomal

23 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

ITGA7 was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

23 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ITGA7 was changed to BIALLELIC, autosomal or pseudoautosomal

23 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ITGA7 was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

23 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ITGA7 was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen