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Additional findings_Paediatric

Gene: VSX1

Red List (low evidence)

VSX1 (visual system homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000100987
EnsemblGeneIds (GRCh37): ENSG00000100987
OMIM: 605020, Gene2Phenotype
VSX1 is in 4 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Keratoconus
OMIM
605020
Clinvar variants
Variants in VSX1
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VSX1 was added gene: VSX1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: VSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: VSX1 were set to Keratoconus