Clefting
Gene: EYA1
EYA1 (EYA transcriptional coactivator and phosphatase 1)
EnsemblGeneIds (GRCh38): ENSG00000104313
EnsemblGeneIds (GRCh37): ENSG00000104313
OMIM: 601653, Gene2Phenotype
EYA1 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000104313
EnsemblGeneIds (GRCh37): ENSG00000104313
OMIM: 601653, Gene2Phenotype
EYA1 is in 12 panels
1 review
Helen Brittain (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
BRANCHIOOTORENAL SYNDROME 1; BOR1
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- BRANCHIOOTORENAL SYNDROME 1
- BOR1
- OMIM
- 601653
- Clinvar variants
- Variants in EYA1
- Penetrance
- Complete
- Panels with this gene
-
- Unexplained young onset end-stage renal disease - additional genes
- Deafness and congenital structural abnormalities
- Unexplained kidney failure in young people
- Ductal plate malformation
- DDG2P
- Structural eye disease
- Monogenic hearing loss
- Intellectual disability
- Fetal anomalies
- Clefting
- Bilateral congenital or childhood onset cataracts
- CAKUT
History Filter Activity
31 May 2017, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
26 May 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)EYA1 was added to Cleftingpanel. Sources: Expert Review Green
26 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)EYA1 was created by ellenmcdonagh