OCA2

OCA2 melanosomal transmembrane protein
OMIM: 611409, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green OCA2 in Ocular and Oculocutaneous Albinism Level 2: Ophthalmological disorders Version 1.11	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Albinism, brown oculocutaneous, MIM# 203200 Albinism, oculocutaneous, type II, MIM# 203200
Green OCA2 in Mendeliome Version 1.2302	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Albinism, brown oculocutaneous 203200 Albinism, oculocutaneous, type II 203200 autosomal dominant Albinism, oculocutaneous Tags SV/CNV
Green OCA2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Albinism, brown oculocutaneous, 203200 (3)
Green OCA2 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Albinism, oculocutaneous
Green OCA2 in Congenital nystagmus Level 2: Ophthalmological disorders Version 1.22	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp NHS Genomic Medicine Service Victorian Clinical Genetics Services Phenotypes Albinism, brown oculocutaneous, MIM# 203200 Albinism, oculocutaneous, type II, MIM# 203200
Red OCA2 in Prepair 1000+ Level 2: Screening Version 1.1566	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Albinism, oculocutaneous, type II (MIM#203200)
Red OCA2 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Albinism, brown oculocutaneous, MIM# 203200 Albinism, oculocutaneous, type II, MIM# 203200