CLUAP1

clusterin associated protein 1
OMIM: 616787, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Red CLUAP1 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.101	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Literature Phenotypes Leber congenital amaurosis, MONDO:0018998, CLUAP1-related Ciliopathy, MONDO:0005308, CLUAP1-related
Amber CLUAP1 in Mendeliome Version 1.5025	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leber congenital amaurosis, MONDO:0018998, CLUAP1-related Ciliopathy, MONDO:0005308, CLUAP1-related
Red CLUAP1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.831	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Literature Expert Review Red Expert Review Red Literature Literature Phenotypes Leber congenital amaurosis, MONDO:0018998, CLUAP1-related Ciliopathy, MONDO:0005308, CLUAP1-related
Amber CLUAP1 in Cone-rod Dystrophy Level 2: Ophthalmological disorders Version 0.70 Component of the following Super Panels: Retinal Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Expert Review Amber Literature Phenotypes Leber congenital amaurosis, MONDO:0018998, CLUAP1-related Ciliopathy, MONDO:0005308, CLUAP1-related
Red CLUAP1 in Fetal anomalies Version 1.588	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Literature Expert Review Red Expert Review Red Literature Literature Phenotypes Leber congenital amaurosis, MONDO:0018998, CLUAP1-related Ciliopathy, MONDO:0005308, CLUAP1-related