CHARGE syndrome
OMIM:214800Mode of inheritance:Autosomal dominant
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | CHD7 |
|---|---|
| DNA Change | 184 kb microdeletion |
| A.A. Change | |
| Exon/Intron | exon 1 |
| Mutation Type | deletion |
| Reference | Pisaneschi E, Sirleto P, Lepri FR, Genovese S, Dentici ML, Petrocchi S, Angioni A, Digilio MC, Dallapiccola B.
CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon. BMC Med Genet. 2015 Sep 3;16:78. doi: 10.1186/s12881-015-0225-7. |
Variant not named according to HGVS recommendations