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  2. Muscular dystrophy and myopathy_Paediatric
  3. ITGA7
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Muscular dystrophy and myopathy_Paediatric

Gene: ITGA7

Green List (high evidence)
ITGA7 (integrin subunit alpha 7)
EnsemblGeneIds (GRCh38): ENSG00000135424
EnsemblGeneIds (GRCh37): ENSG00000135424
OMIM: 600536, Gene2Phenotype
ITGA7 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 3 unrelated families reported.
Created: 15 Mar 2022, 1:59 a.m. | Last Modified: 15 Mar 2022, 1:59 a.m.
Panel Version: 0.96

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204

Publications

Created: 15 Mar 2022, 1:59 a.m.
Last Modified: 15 Mar 2022, 1:59 a.m.
Panel version: 0.96

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204
OMIM
600536
Clinvar variants
Variants in ITGA7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: itga7 has been classified as Green List (High Evidence).

15 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ITGA7 were changed from to Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204

15 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ITGA7 were set to

15 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ITGA7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ITGA7 was added gene: ITGA7 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ITGA7 was set to Unknown