SOX2

SRY-box 2
OMIM: 184429, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green SOX2 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.43

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microphthalmia, syndromic 3, MIM# 206900
  • Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900

Green SOX2 in Eye Anterior Segment Abnormalities


Level 2: Ophthalmological disorders
Version 1.13

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peters' anomaly, no OMIM #
  • Microphthalmia, syndromic 3, OMIM # 206900
  • Optic nerve hypoplasia and abnormalities of the central nervous system, OMIM # 206900

Red SOX2 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.389

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Microphthalmia, syndromic 3
  • Optic nerve hypoplasia and abnormalities of the central nervous system, MIM#206900

Green SOX2 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.8

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Anophthalmia/microphthalmia-esophageal atresia syndrome MONDO:0008799
  • Microphthalmia, syndromic 3, MIM# 206900
  • Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900

Amber SOX2 in Holoprosencephaly and septo-optic dysplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.17

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Optic nerve hypoplasia and abnormalities of the central nervous system #206900
  • Microphthalmia, syndromic 3 #206900

Green SOX2 in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microphthalmia, syndromic 3, MIM# 206900
  • Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900

Green SOX2 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.540

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Amber SOX2 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.213

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Anopthalmia and sensorineural hearing loss
  • Microphthalmia, syndromic 3 206900

Green SOX2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Microphthalmia, syndromic 3, MIM# 206900
  • Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900

Green SOX2 in Pituitary hormone deficiency


Level 2: Endocrine disorders
Version 0.35

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Microphthalmia, syndromic 3 (206900)

Red SOX2 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.260

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • MICROPHTHALMIA, SYNDROMIC 3
  • MCOPS3

Green SOX2 in Growth failure


Version 1.76

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Microphthalmia, syndromic 3, MIM# 206900

Green SOX2 in Fetal anomalies


Version 1.314

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Microphthalmia, syndromic 3, MIM# 206900
  • Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900