Congenital muscular dystrophy
Gene: ITGA7
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.
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
2 cases described and good functional evideceCreated: 26 Jan 2017, 4:07 p.m.
2 cases described and good functional evideceCreated: 26 Jan 2017, 4:07 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital Muscular Dystrophy, ITGA7-related; Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204
Source was removed from ITGA7.
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
Publications for gene ITGA7 were changed from 9590299; 26076707; 18045857 to 9590299; 18045857; 26076707
Source NHS GMS was added to ITGA7.
Source London South GLH was added to ITGA7. Rating Changed from Green List (high evidence) to Green List (high evidence)
27.01.2017 Panel revised after expert review and internal review with further curation.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for ITGA7 were set to 9590299; 26076707; 18045857
Publications for ITGA7 were set to 9590299; 26076707; 18045857
Publications for ITGA7 were set to 9590299; 26076707; 18045857
Publications for ITGA7 were set to 26076707;18045857
Publications for ITGA7 were set to 26076707
ITGA7 was added to Congenital muscular dystrophypanel. Source:
Model of inheritance for gene ITGA7 was changed to BIALLELIC, autosomal or pseudoautosomal
ITGA7 was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Model of inheritance for gene ITGA7 was changed to BIALLELIC, autosomal or pseudoautosomal
ITGA7 was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
ITGA7 was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen