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  3. ITGA7
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Arthrogryposis

Gene: ITGA7

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

2 reviews

Alice Gardham (Genomics England)

Comment on list classification: No clear association with arthrogryposis
Created: 4 Jan 2017, 11:40 a.m.
Created: 4 Jan 2017, 11:40 a.m.

Panel version: 1.149

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: Imported from "Congenital muscular dystrophy" panel version 0.0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Congenital Muscular Dystrophy, ITGA7-related
  • Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204
OMIM
600536
Clinvar variants
Variants in ITGA7
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

21 Dec 2016, Gel status: 3

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

ITGA7 was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services ITGA7 was added to Arthrogryposispanel. Source: Emory Genetics Laboratory ITGA7 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen ITGA7 was added to Arthrogryposispanel. Source: Model of inheritance for gene ITGA7 was set to BIALLELIC, autosomal or pseudoautosomal

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ITGA7 was created by ellenmcdonagh

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ITGA7 was added to Arthrogryposispanel. Sources: Expert list