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Research panel - Severe Paediatric 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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: EYA1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Anterior segment anomalies with or without cataract, 602588 (3) | Branchiootic syndrome 1, 602588 (3) | Branchiootorenal syndrome 1, with or without cataracts, 113650 (3) | ?Otofaciocervical syndrome, 166780 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:19 p.m.
Last Modified: 20 Feb 2020, 5:19 p.m.
Panel version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • ?Otofaciocervical syndrome, 166780
  • Branchiootorenal syndrome 1, with or without cataracts, 113650
  • Anterior segment anomalies with or without cataract, 602588
  • Branchiootic syndrome 1, 602588
OMIM
601653
Clinvar variants
Variants in EYA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene EYA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene EYA1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Otofaciocervical syndrome, 166780; Anterior segment anomalies with or without cataract, 602588; Branchiootorenal syndrome 1, with or without cataracts, 113650; Branchiootic syndrome 1, 602588 for gene: EYA1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Otofaciocervical syndrome, 166780; Anterior segment anomalies with or without cataract, 602588; Branchiootorenal syndrome 1, with or without cataracts, 113650; Branchiootic syndrome 1, 602588 for gene: EYA1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Otofaciocervical syndrome, 166780; Anterior segment anomalies with or without cataract, 602588; Branchiootorenal syndrome 1, with or without cataracts, 113650; Branchiootic syndrome 1, 602588 for gene: EYA1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Branchiootorenal syndrome 1, with or without cataracts, 113650; ?Otofaciocervical syndrome, 166780; Anterior segment anomalies with or without cataract, 602588; Branchiootic syndrome 1, 602588 for gene: EYA1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to EYA1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

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

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: EYA1 was added gene: EYA1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: EYA1 was set to