Prepair 1000+
Gene: OCA2

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Does not meet severity criteria for reproductive carrier screening panel. D/W ZS/AY/LD/AA/SL/CL.
Created: 17 Aug 2022, 6:34 a.m. | Last Modified: 17 Aug 2022, 6:34 a.m.

Panel Version: 0.129

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Albinism, oculocutaneous, type II (MIM#203200)

Created: 17 Aug 2022, 6:34 a.m.
Last Modified: 17 Aug 2022, 6:34 a.m.
Panel version: 0.129

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Previously discussed by the MM gene selection committee. Decision for the final gene list was to include gene however the comment was "time consuming and variable often mild phenotype"

Exclude on phenotype grounds?
Created: 14 Jul 2022, 2:56 a.m. | Last Modified: 14 Jul 2022, 2:56 a.m.

Panel Version: 0.40

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Albinism, brown oculocutaneous (MIM#203200), Albinism, oculocutaneous, type II (MIM#203200)

Created: 14 Jul 2022, 2:56 a.m.
Last Modified: 14 Jul 2022, 2:56 a.m.
Panel version: 0.40

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Mackenzie's Mission

Phenotypes

Albinism, oculocutaneous, type II (MIM#203200)

OMIM

611409

Clinvar variants

Variants in OCA2

Penetrance

None

Panels with this gene