Ocular coloboma
Gene: STRA6
STRA6 (stimulated by retinoic acid 6)
EnsemblGeneIds (GRCh38): ENSG00000137868
EnsemblGeneIds (GRCh37): ENSG00000137868
OMIM: 610745, Gene2Phenotype
STRA6 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000137868
EnsemblGeneIds (GRCh37): ENSG00000137868
OMIM: 610745, Gene2Phenotype
STRA6 is in 10 panels
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Literature
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Microphthalmia, syndromic 9, 601186Microphthalmia, isolated, with coloboma 8, 601186
- OMIM
- 610745
- Clinvar variants
- Variants in STRA6
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
6 Feb 2017, Gel status: 4
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 6th February 2016 by Alice Gardham
21 Dec 2016, Gel status: 4
Set publications
Alice Gardham (Genomics England)Publications for STRA6 were set to 17273977, 24859618
16 Nov 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
16 Nov 2016, Gel status: 3
Upload gene information
Alice Gardham (Genomics England)STRA6 was added to Ocular colobomapanel. Sources: Literature,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
16 Nov 2016, Gel status: 1
Set Mode of Inheritance
Alice Gardham (Genomics England)Model of inheritance for gene STRA6 was set to BIALLELIC, autosomal or pseudoautosomal
11 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)STRA6 was added to Ocular colobomapanel. Sources: Radboud University Medical Center, Nijmegen