VSX2

visual system homeobox 2
OMIM: 142993, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red VSX2 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.47	review	Not set	Sources NHS GMS Emory Genetics Laboratory Phenotypes Eye Disorders
Green VSX2 in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Microphthalmia/coloboma 3, OMIM:610092
Green VSX2 in Ocular coloboma Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.51	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Microphthalmia/coloboma 3, OMIM:610092
Green VSX2 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes Microphthalmia, isolated 2, OMIM:610093 Microphthalmia/coloboma 3, OMIM:610092
Green VSX2 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROPHTHALMIA ISOLATED TYPE 2 610093 MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 3 610092 MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES 610092
Green VSX2 in Anophthalmia or microphthalmia Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.56	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Microphthalmia, isolated 2, OMIM:610093 Microphthalmia/coloboma 3, OMIM:610092
Red VSX2 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Microphthalmia with coloboma 3, 610092 Microphthalmia, isolated 2, 610093
Amber VSX2 in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes retinal disorder MONDO:0005283 Microphthalmia/coloboma 3, OMIM:610092 Tags Q3_25_promote_green
Green VSX2 in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Microphthalmia, isolated 2, OMIM:610093 Microphthalmia/coloboma 3, OMIM:610092