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  3. EYA1
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Renal and urinary tract disorders

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 12 panels

4 reviews

Helen Stuart (University of Manchester)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Branchiootorenal Syndrome

Created: 5 Nov 2017, 2:37 a.m.

Panel version: Imported from CAKUT panel version 0

Bill Newman (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Created: 5 Nov 2017, 2:37 a.m.

Panel version: Imported from CAKUT panel version 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 4 Aug 2016, 12:32 p.m.
Comment on phenotypes: Also associated with Otofaciocervical syndrome 166780 and Branchiootic syndrome 1 602588
Created: 4 Aug 2016, 12:31 p.m.
Created: 4 Aug 2016, 12:31 p.m.

Panel version: Imported from End-stage renal disease - childhood onset panel version 0.190

Adrian Woolf (Professor of Paediatric Scicence, Univerisity of Manchester)

Green List (high evidence)

Well established genetic cause of a variety of renal tract malformations including renal agenesis, renal dysplasia and calyceal malformations/cysts. Testing available on the UK Gene Testing Network. Severity of renal disease can vary markedly between patients, even in one family.
Created: 22 Apr 2016, 11:28 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 22 Apr 2016, 11:28 a.m.

Panel version: Imported from CAKUT panel version 0.84

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Branchiootorenal syndrome 1, with or without cataracts, 113650
  • Anterior segment anomalies with or without cataract, 113650
  • Branchiootic syndrome 1, 602588
  • Otofaciocervical syndrome, 166780
  • Branchiootorenal syndrome 1, with or without cataracts
  • Branchiootorenal Spectrum Disorders
OMIM
601653
Clinvar variants
Variants in EYA1
Penetrance
None
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Adrian Woolf: Well established genetic cause

30 Jan 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: EYA1 were changed from Branchiootorenal syndrome 1, with or without cataracts, 113650Anterior segment anomalies with or without cataract, 113650Branchiootic syndrome 1, 602588Otofaciocervical syndrome, 166780; Branchiootorenal syndrome 1, with or without cataracts; Branchiootorenal Spectrum Disorders to Branchiootorenal syndrome 1, with or without cataracts, 113650; Anterior segment anomalies with or without cataract, 113650; Branchiootic syndrome 1, 602588; Otofaciocervical syndrome, 166780; Branchiootorenal syndrome 1, with or without cataracts; Branchiootorenal Spectrum Disorders

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Branchiootorenal syndrome 1, with or without cataracts for gene: EYA1

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: EYA1 was added gene: EYA1 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EYA1 were set to Branchiootorenal Spectrum Disorders; Branchiootorenal syndrome 1, with or without cataracts, 113650Anterior segment anomalies with or without cataract, 113650Branchiootic syndrome 1, 602588Otofaciocervical syndrome, 166780