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  2. Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
  3. ITGA8
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Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic

Gene: ITGA8

Green List (high evidence)
ITGA8 (integrin subunit alpha 8)
EnsemblGeneIds (GRCh38): ENSG00000077943
EnsemblGeneIds (GRCh37): ENSG00000077943
OMIM: 604063, Gene2Phenotype
ITGA8 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than three unrelated families and a mouse model.
Created: 2 Sep 2021, 11:10 p.m. | Last Modified: 2 Sep 2021, 11:10 p.m.
Panel Version: 0.84

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Renal hypodysplasia/aplasia 1, MIM# 191830

Publications

Created: 2 Sep 2021, 11:10 p.m.
Last Modified: 2 Sep 2021, 11:10 p.m.
Panel version: 0.84

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal hypodysplasia/aplasia 1, MIM# 191830
OMIM
604063
Clinvar variants
Variants in ITGA8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: itga8 has been classified as Green List (High Evidence).

2 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ITGA8 were changed from to Renal hypodysplasia/aplasia 1, MIM# 191830

2 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ITGA8 were set to

2 Sep 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ITGA8 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: ITGA8 was added gene: ITGA8 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ITGA8 was set to Unknown