Holoprosencephaly and septo-optic dysplasia
Gene: SOX2EnsemblGeneIds (GRCh38): ENSG00000181449
EnsemblGeneIds (GRCh37): ENSG00000181449
OMIM: 184429, Gene2Phenotype
SOX2 is in 13 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
CC abnormalities are well reported in this condition, this report probably represents severe end of the spectrum.Created: 29 Jul 2022, 5:52 a.m. | Last Modified: 29 Jul 2022, 5:52 a.m.
Panel Version: 1.4
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Optic nerve hypoplasia and abnormalities of the central nervous system #206900; Microphthalmia, syndromic 3 #206900
Di Milnes (Genetic Health Queensland)
single case SOD (mild ONH, absent septum pellucidum, hypoplasia corpus callosum, dilated lateral ventricles de novo trio WES confirmed Sanger sequencing
Sources: LiteratureCreated: 29 Jul 2022, 4:46 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Optic nerve hypoplasia and abnormalities of the central nervous system #206900; Microphthalmia, syndromic 3 #206900
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Optic nerve hypoplasia and abnormalities of the central nervous system #206900
- Microphthalmia, syndromic 3 #206900
- OMIM
- 184429
- Clinvar variants
- Variants in SOX2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Holoprosencephaly and septo-optic dysplasia
- Anophthalmia_Microphthalmia_Coloboma
- Fetal anomalies
- Clefting disorders
- Mendeliome
- Eye Anterior Segment Abnormalities
- Pituitary hormone deficiency
- Intellectual disability syndromic and non-syndromic
- Callosome
- Differences of Sex Development
- Growth failure
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sox2 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sox2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Di Milnes (Genetic Health Queensland)gene: SOX2 was added gene: SOX2 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SOX2 were set to 35885948 Phenotypes for gene: SOX2 were set to Optic nerve hypoplasia and abnormalities of the central nervous system #206900; Microphthalmia, syndromic 3 #206900 Review for gene: SOX2 was set to AMBER