CAKUT
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
2 reviews
Catherine Snow (Genomics England)
Comment on list classification: Sufficient number of unrelated cases identified in the literature to classify STRA6 Green for this panelCreated: 21 May 2020, 12:51 p.m. | Last Modified: 21 May 2020, 12:51 p.m.
Panel Version: 1.128
Zornitza Stark (Australian Genomics)
Renal malformations are part of the phenotype.
Sources: Expert listCreated: 16 Jan 2020, 4:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microphthalmia, syndromic 9, MIM# 601186
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Microphthalmia, syndromic 9, MIM# 601186
- OMIM
- 610745
- Clinvar variants
- Variants in STRA6
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
21 May 2020, Gel status: 3
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: stra6 has been classified as Green List (High Evidence).
21 May 2020, Gel status: 0
Set publications
Catherine Snow (Genomics England)Publications for gene: STRA6 were set to 26373900; 17503335
21 May 2020, Gel status: 0
Set publications
Catherine Snow (Genomics England)Publications for gene: STRA6 were set to
16 Jan 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: STRA6 was added gene: STRA6 was added to CAKUT. Sources: Expert list Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STRA6 were set to Microphthalmia, syndromic 9, MIM# 601186 Review for gene: STRA6 was set to GREEN