Genomics England
GMS Panels
Panels
Genes and Entities

SOX2

SRY-box 2
OMIM: 184429
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
AEG SYNDROME, MICROPHTHALMIA SYNDROMIC TYPE 3 206900
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
AEG SYNDROME, MICROPHTHALMIA SYNDROMIC TYPE 3
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
AEG SYNDROME
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
#206900:Optic nerve hypoplasia and abnormalities of the central nervous system, Hearing loss, sensorineural
Green
in Pituitary hormone deficiency
R-numbers: R159
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Microphthalmia, syndromic 3, OMIM:206900, anophthalmia/microphthalmia-esophageal atresia syndrome, MONDO:0008799
Green
in Structural eye disease
R-numbers: R36
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Microphthalmia, syndromic 3 206900