SOX2

SRY-box 2
OMIM: 184429, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 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