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Fetal anomalies

Gene: ITGA6

Green List (high evidence)

ITGA6 (integrin subunit alpha 6)
EnsemblGeneIds (GRCh38): ENSG00000091409
EnsemblGeneIds (GRCh37): ENSG00000091409
OMIM: 147556, Gene2Phenotype
ITGA6 is in 7 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high 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: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Prenatally relevant. Although there is only one reported case in OMIM, ITGA6 is rated Green on the V1.6 'Epidermolysis bullosa' panel due to expert review and recent additional publications.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed.
Created: 11 Dec 2018, 9:05 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE Additional Gene List
  • Expert Review Green
Phenotypes
  • Epidermolysis Bullosa with Pyloric Atresia. 226730
OMIM
147556
Clinvar variants
Variants in ITGA6
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: ITGA6 was added gene: ITGA6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGA6 were set to Epidermolysis Bullosa with Pyloric Atresia. 226730