Genomics England
GMS Panels
Panels
Genes and Entities

SIX1

SIX homeobox 1
OMIM: 601205
PanelMode of inheritanceDetails
4 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
BRANCHIOOTIC SYNDROME 3, BOS3
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
BRANCHIOOTIC SYNDROME TYPE 3, OMIM:608389, Non-syndromic craniosynostosis
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.42
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#605192:Deafness, autosomal dominant 23, #608389:Brachiootic syndrome 3, hearing loss, Nonsyndromic Hearing Loss, Dominant
Green
in Rare syndromic craniosynostosis or isolated multisuture synostosis
R-numbers: R100
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
sagittal synostosis, multi-suture synostosis