SOX2

PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
AEG SYNDROME, MICROPHTHALMIA SYNDROMIC TYPE 3 206900
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
AEG SYNDROME, MICROPHTHALMIA SYNDROMIC TYPE 3
Green
in Hearing loss
R-numbers: R67
Signed-off version 2.5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
#206900:Optic nerve hypoplasia and abnormalities of the central nervous system, Hearing loss, sensorineural
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
AEG SYNDROME
R-numbers: R159
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Microphthalmia, syndromic 3 (206900)
R-numbers: R36
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Microphthalmia, syndromic 3 206900