Vitamin metabolism disorders
Gene: STRA6
STRA6 (stimulated by retinoic acid 6)
EnsemblGeneIds (GRCh38): ENSG00000137868
EnsemblGeneIds (GRCh37): ENSG00000137868
OMIM: 610745, Gene2Phenotype
STRA6 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000137868
EnsemblGeneIds (GRCh37): ENSG00000137868
OMIM: 610745, Gene2Phenotype
STRA6 is in 15 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Matthew-Wood syndrome MONDO:0011010
- Other disorders of vitamin metabolism
- OMIM
- 610745
- Clinvar variants
- Variants in STRA6
- Penetrance
- None
- Publications
- 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
20 May 2024, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: STRA6 was added gene: STRA6 was added to Vitamin metabolism disorders. Sources: Expert Review Amber Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STRA6 were set to 21901792, 18316031, 24852372 Phenotypes for gene: STRA6 were set to Matthew-Wood syndrome MONDO:0011010; Other disorders of vitamin metabolism