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  2. Anophthalmia_Microphthalmia_Coloboma
  3. VSX2
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Anophthalmia_Microphthalmia_Coloboma

Gene: VSX2

Green List (high evidence)
VSX2 (visual system homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000119614
EnsemblGeneIds (GRCh37): ENSG00000119614
OMIM: 142993, Gene2Phenotype
VSX2 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families reported.
Created: 24 Dec 2020, 6:12 a.m. | Last Modified: 24 Dec 2020, 6:12 a.m.
Panel Version: 0.92

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microphthalmia with coloboma 3, MIM# 610092; Microphthalmia, isolated 2, MIM# 610093

Publications

Created: 24 Dec 2020, 6:12 a.m.
Last Modified: 24 Dec 2020, 6:12 a.m.
Panel version: 0.92

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microphthalmia with coloboma 3, MIM# 610092
  • Microphthalmia, isolated 2, MIM# 610093
OMIM
142993
Clinvar variants
Variants in VSX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vsx2 has been classified as Green List (High Evidence).

24 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: VSX2 were changed from to Microphthalmia with coloboma 3, MIM# 610092; Microphthalmia, isolated 2, MIM# 610093

24 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: VSX2 were set to

24 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: VSX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VSX2 was added gene: VSX2 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: VSX2 was set to Unknown