SIX1

PanelMode of inheritanceDetails
4 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
BRANCHIOOTIC SYNDROME 3, BOS3
R-numbers: R100
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
sagittal synostosis, multi-suture synostosis
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Non-syndromic craniosynostosis, DEAFNESS AUTOSOMAL DOMINANT TYPE 23 605192, BRANCHIOOTIC SYNDROME TYPE 3 608389
R-numbers: R67
Signed-off version 3.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#605192:Deafness, autosomal dominant 23, #608389:Brachiootic syndrome 3, hearing loss, Nonsyndromic Hearing Loss, Dominant