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Additional findings_Paediatric

Gene: OCA2

Green List (high evidence)

OCA2 (OCA2 melanosomal transmembrane protein)
EnsemblGeneIds (GRCh38): ENSG00000104044
EnsemblGeneIds (GRCh37): ENSG00000104044
OMIM: 611409, Gene2Phenotype
OCA2 is in 7 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Albinism, oculocutaneous
OMIM
611409
Clinvar variants
Variants in OCA2
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: OCA2 was added gene: OCA2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: OCA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OCA2 were set to Albinism, oculocutaneous