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Fetal anomalies

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 15 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for BRANCHIOOTORENAL SYNDROME TYPE 1
Created: 11 Dec 2018, 9:04 a.m.

History Filter Activity

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: EYA1 was added gene: EYA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EYA1 were set to BRANCHIOOTORENAL SYNDROME TYPE 1