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  2. Ductal plate malformation
  3. EYA1
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Ductal plate malformation

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 12 panels

1 review

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Demoted from amber to red as insufficient evidence
Created: 12 Nov 2018, 1:55 p.m.
Created: 12 Nov 2018, 1:55 p.m.

Panel version: 0.26

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Branchiootic syndrome 1 (602588)
  • Branchiootorenal syndrome 1, with or without cataracts (113650)
OMIM
601653
Clinvar variants
Variants in EYA1
Penetrance
None
Panels with this gene

History Filter Activity

30 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ivone Leong: Demoted from amber to red as i

12 Nov 2018, Gel status: 1

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Red was added to EYA1. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

12 Nov 2018, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: EYA1 was added gene: EYA1 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EYA1 were set to Branchiootic syndrome 1 (602588); Branchiootorenal syndrome 1, with or without cataracts (113650)