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Hearing loss

Gene: ITGA8

Red List (low evidence)

ITGA8 (integrin subunit alpha 8)
EnsemblGeneIds (GRCh38): ENSG00000077943
EnsemblGeneIds (GRCh37): ENSG00000077943
OMIM: 604063, Gene2Phenotype
ITGA8 is in 8 panels

1 review

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#191830:Renal hypodysplasia/aplasia 1[Potter faciesWide-set eyesFlattened noseReceding chin; Large, low-set earsEars deficient in cartilage; Lung hypoplasia; Renal adysplasiaRenal agenesisRenal dysplasia; Ureteral aplasia; Bladder hypoplasiaBladder abnormalities; Spade-like hands; Talipes equinovarusClub feet; OligohydramniosAnhydramnios]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ITGA8 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert