SOX2

SRY-box 2
OMIM: 184429, ClinGen, DECIPHER

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	1 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 1.12	1 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	1 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 1.6	1 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	2 reviews	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 1.2302	1 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	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Amber SOX2 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.210	1 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 1.63	1 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	0 reviews	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	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes MICROPHTHALMIA, SYNDROMIC 3 MCOPS3
Green SOX2 in Growth failure Version 1.76	1 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 1.313	1 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