Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
Gene: STRA6EnsemblGeneIds (GRCh38): ENSG00000137868
EnsemblGeneIds (GRCh37): ENSG00000137868
OMIM: 610745, Gene2Phenotype
STRA6 is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
CAKUT is part of the phenotype
Sources: Expert listCreated: 28 Nov 2019, 6:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microphthalmia, isolated, with coloboma 8, MIM#601186
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Microphthalmia, isolated, with coloboma 8, MIM#601186
- OMIM
- 610745
- Clinvar variants
- Variants in STRA6
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Clefting disorders
- Prepair 1000+
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
- Anophthalmia_Microphthalmia_Coloboma
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Mendeliome
- Congenital diaphragmatic hernia
- Interstitial Lung Disease
- Callosome
- Vitamin metabolism disorders
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: stra6 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: stra6 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: STRA6 was added gene: STRA6 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STRA6 were set to Microphthalmia, isolated, with coloboma 8, MIM#601186 Review for gene: STRA6 was set to GREEN