STRA6:Ensemblv115

signaling receptor and transporter of retinol STRA6
OMIM: 610745, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green STRA6 in Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Microphthalmia, isolated, with coloboma 8, MIM# 601186 Microphthalmia, syndromic 9, MIM# 601186
Green STRA6 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Level 2: Renal and urinary tract disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Microphthalmia, isolated, with coloboma 8, MIM#601186
Green STRA6 in Congenital diaphragmatic hernia Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Microphthalmia, syndromic 9, MIM# 601186
Green STRA6 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Microphthalmia, syndromic 9, MIM# 601186
Green STRA6 in Interstitial Lung Disease Level 2: Respiratory disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Microphthalmia, syndromic 9, MIM# 601186
Green STRA6 in Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Phenotypes Microphthalmia, syndromic 9, MIM# 601186
Green STRA6 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green STRA6 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Genetic Health Queensland Expert Review Green Phenotypes Matthew-Wood syndrome MONDO:0011010
Green STRA6 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Microphthalmia, isolated, with coloboma 8, 601186 (3)
Red STRA6 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes MCOPS9 MICROPHTHALMIA, SYNDROMIC 9
Green STRA6 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Genomics England PanelApp Expert Review Green Phenotypes Microphthalmia, syndromic 9, MIM# 601186
Green STRA6 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Microphthalmia, isolated, with coloboma 8 MIM#601186 Microphthalmia, syndromic 9 MIM#601186
Amber STRA6 in Vitamin metabolism disorders Level 2: Metabolic disorders Version 2.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Matthew-Wood syndrome MONDO:0011010 Other disorders of vitamin metabolism