GPR143

G protein-coupled receptor 143
OMIM: 300808, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green GPR143 in Ocular and Oculocutaneous Albinism Level 2: Ophthalmological disorders Version 1.11	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ocular albinism, type I, Nettleship-Falls type, MIM# 300500 MONDO:0021019
Green GPR143 in Mendeliome Version 1.2302	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes congenital nystagmus 6, MIM 300814 type I ocular albinism, Nettleship-Falls type, MIM 300500
Green GPR143 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Ocular albinism, type I, Nettleship-Falls type, 300500 (3)
Green GPR143 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Ocular albinism, type I
Green GPR143 in Congenital nystagmus Level 2: Ophthalmological disorders Version 1.22	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp NHS Genomic Medicine Service Victorian Clinical Genetics Services Phenotypes Ocular albinism, type I, Nettleship-Falls type, MIM# 300500 MONDO:0021019 Nystagmus 6, congenital, X-linked, MIM# 300814
Green GPR143 in Prepair 1000+ Level 2: Screening Version 1.1566	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Nystagmus 6, congenital, X-linked, MIM#300814 Ocular albinism, type I, Nettleship-Falls type, MIM#300500
Red GPR143 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category A gene Phenotypes Ocular albinism, type I, Nettleship-Falls type, MIM# 300500
Green GPR143 in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Ocular albinism, type I, Nettleship-Falls type, 300500 (3)