Fetal anomalies
Gene: ITGA7

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

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ITGA7 gene rating from Green to Red.
Created: 24 Mar 2019, 4:30 p.m.

DDG2P rating in original PAGE list: Confirmed for CONGENITAL MUSCULAR DYSTROPHY
Created: 11 Dec 2018, 9:05 a.m.

Publications

9590299

Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.134

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
PAGE DD-Gene2Phenotype

Phenotypes

CONGENITAL MUSCULAR DYSTROPHY

OMIM

600536

Clinvar variants

Variants in ITGA7

Penetrance

None

Publications

9590299

Panels with this gene

History Filter Activity

24 Mar 2019, Gel status: 1

Added New Source, Set publications, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to ITGA7. Publications for gene ITGA7 were changed from to 9590299 Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: ITGA7 was added gene: ITGA7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ITGA7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGA7 were set to CONGENITAL MUSCULAR DYSTROPHY

Fetal anomalies Gene: ITGA7