NDP

NDP, norrin cystine knot growth factor
OMIM: 300658, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green NDP in Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Version 1.43	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Norrie disease, MIM# 310600
Green NDP in Cataract Level 2: Ophthalmological disorders Version 0.373	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Norrie disease (MIM# 310600)
Green NDP 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 Exudative vitreoretinopathy 2, X-linked, MIM 305390 Norrie disease, MIM 310600
Red NDP in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.108 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Norrie disease, MIM#310600
Green NDP in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Norrie disease MONDO:0010691
Green NDP in Vitreoretinopathy Level 2: Ophthalmological disorders Version 1.5 Component of the following Super Panels: Retinal Disorders Superpanel	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Exudative vitreoretinopathy 2, X-linked, MIM# 305390 Norrie disease, MIM# 310600
Green NDP 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 Norrie disease, 310600 (3)
Green NDP 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 Norrie disease
Green NDP in Fetal anomalies Version 1.313	3 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Norrie disease, MIM# 310600
Green NDP in Prepair 1000+ Level 2: Screening Version 1.1566	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Norrie disease, 310600 (3)
Red NDP in BabyScreen+ newborn screening Level 2: Screening Version 1.116	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category A gene Phenotypes Norrie disease, MIM# 310600
Green NDP 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 Norrie disease, 310600 (3)