POC5

POC5 centriolar protein
Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green POC5 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.74	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ciliopathy, MONDO:0005308, POC5-related
Green POC5 in Lipodystrophy_Lipoatrophy Level 2: Dysmorphic and congenital abnormality syndromes Version 1.22	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ciliopathy, MONDO:0005308, POC5-related
Green POC5 in Mendeliome Version 1.2789	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ciliopathy, MONDO:0005308, POC5-related Scoliosis, MONDO:0005392, POC5-related
Green POC5 in Retinitis pigmentosa_Autosomal Recessive/X-linked Level 2: Ophthalmological disorders Version 0.173 Component of the following Super Panels: Retinal Disorders Superpanel Retinitis Pigmentosa Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ciliopathy, MONDO:0005308, POC5-related
Green POC5 in Monogenic Diabetes Level 2: Endocrine disorders Version 0.142 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ciliopathy, MONDO:0005308, POC5-related
Amber POC5 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.227 Component of the following Super Panels: Retinal Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber RetNet Phenotypes retinitis pigmentosa short stature microcephaly recurrent glomerulonephritis