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Prepair 1000+

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

Clare Hunt (Victorian Clinical Genetics Services)

Green List (high evidence)

HGNC:VSX2, 1975. Features include congenital microphthalmia (abnormally small eyeballs), cataracts, and can cause severe abnormalities of the iris. Can be seen with or without coloboma. From Mendeliome entry; more than 10 unrelated families reported.
Created: 30 Jan 2025, 10:27 a.m. | Last Modified: 30 Jan 2025, 10:27 a.m.
Panel Version: 1.1367

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
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

30 Jan 2025, 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).

30 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: VSX2 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Microphthalmia with coloboma 3, 610092 (3) for gene: VSX2

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VSX2 was added gene: VSX2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: VSX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VSX2 were set to Microphthalmia with coloboma 3, 610092 (3)