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  2. Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
  3. EYA1
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Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic

Gene: EYA1

Green List (high evidence)
EYA1 (EYA transcriptional coactivator and phosphatase 1)
EnsemblGeneIds (GRCh38): ENSG00000104313
EnsemblGeneIds (GRCh37): ENSG00000104313
OMIM: 601653, Gene2Phenotype
EYA1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 7 Oct 2020, 7:03 a.m. | Last Modified: 7 Oct 2020, 7:03 a.m.
Panel Version: 0.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Branchiootic syndrome 1, MIM# 602588

Created: 7 Oct 2020, 7:03 a.m.
Last Modified: 7 Oct 2020, 7:03 a.m.
Panel version: Imported from Branchio-oto-renal Syndrome panel version 0.5

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Victorian Clinical Genetics Services
OMIM
601653
Clinvar variants
Variants in EYA1
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EYA1 was added gene: EYA1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EYA1 was set to Unknown