GenTIGSA Gene Database on Rare Genetic Disorders

Lists of Rare Genetic Disorders  

Beaded Hair(Monilethrix)      Explore Disorder's Alias
An Autosomal dominant mode(s) within the Hair 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 KRT83/3889 keratin 83 12q13.13 Chr12, NC_000012.12
(52314301..52321398, complement)
7098 nt 9 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

2 KRT81/3887 keratin 81 12q13.13 Chr12, NC_000012.12
(52285913..52308624, complement)
22712 nt 10 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

3 KRT86/3892 keratin 86 12q13.13 Chr12, NC_000012.12
(52274645..52309163)
34519 nt 11 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information    
Disorder Cross-References:      GARD          GTR          MalaCards          NORD     

Patient care services
Clinical Symptoms & Disabilities