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DMPK_CTG 2

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Congenital muscular dystrophy
Gene: ITGA7

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.

Panel version: 1.43

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.

Panel version: 1.24

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

9590299

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

Panel version: 0.111

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.

Panel version: 0.70

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.

Panel version: 0.0

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