Cataracts

Gene: EYA1

Red List (low evidence)

EYA1 (EYA transcriptional coactivator and phosphatase 1)
EnsemblGeneIds (GRCh38): ENSG00000104313
EnsemblGeneIds (GRCh37): ENSG00000104313
OMIM: 601653, Gene2Phenotype
EYA1 is in 16 panels

3 reviews

Ellen Thomas (Genomics England Curator)

Comment on list classification: Poor evidence that cataracts are part of BOR.
Created: 7 Jun 2016, 12:48 p.m.

Sarah Waller (Manchester Centre for Genomic Medicine)

I don't know

Cataract associated mutations located in eyaHR region. Reduced penetrance and variable expressivity for this gene in BOR syndrome.
Created: 25 May 2016, 8:10 a.m.

Phenotypes
Branchiootorenal syndrome 1, with or without cataracts, 113650Anterior segment anomalies with or without cataract, 113650Branchiootic syndrome 1, 602588Otofaciocervical syndrome, 166780

Publications

  • Azuma et al (2000) Hum mol Genet 9:363-366

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

I don't know

Is on the Manchester congenital cataracts gene panel. This is a confirmed DD gene for Branchiootorenal syndrome type 1 and a possible DD gene for otofaciocervical syndrome. Two cases reported in OMIM with anterior segment anomalies and cataract, and branchiootorenal syndrome with cataract.
Created: 25 Apr 2016, 9:20 a.m.

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

Phenotypes
Anterior segment anomalies with or without cataract; Branchiootorenal syndrome 1 with or without cataracts

History Filter Activity

30 Jan 2019, Gel status: 1

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 to Branchiootorenal syndrome 1, with or without cataracts, 113650; Anterior segment anomalies with or without cataract, 113650; Branchiootic syndrome 1, 602588; Otofaciocervical syndrome, 166780

7 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

7 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

EYA1 was added to Cataractspanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

EYA1 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen