GenTIGSA Gene Database on Rare Genetic Disorders

Lists of Rare Genetic Disorders  

Thyroid Dyshormonogenesis 6(Congenital Hypothyroidism, DUOX2-Related) 
An Autosomal recessive mode(s) within the Endocrine disorders category
Reported Pathogenic variants
Candidate Gene Information
S.No. Name/GeneID Description Cytogentic Band Gene Location on genomic DNA Gene Length Exons Details Gene Cross-References
1 DUOX2/50506 dual oxidase 2 15q21.1 Chr15, NC_000015.10
(45092650..45114172, complement)
21523 nt 34 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information    
Disorder Cross-References:      Orphanet          OMIM                    GTR          MedGen          MalaCards          EMBL-EBI OLS    Monarch Initiative          NORD     

Patient care services
Clinical Symptoms & Disabilities