SCAPER

S-phase cyclin A associated protein in the ER
OMIM: 611611, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green SCAPER in Bardet Biedl syndrome Level 2: Dysmorphic and congenital abnormality syndromes Version 1.10 Component of the following Super Panels: Retinal Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder and retinitis pigmentosa, OMIM #618195 Bardet-Biedl syndrome
Green SCAPER in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.62	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Literature Phenotypes Intellectual developmental disorder and retinitis pigmentosa, OMIM #618195 Bardet-Biedl syndrome
Green SCAPER in Mendeliome Version 1.2302	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Intellectual disability retinitis pigmentosa
Green SCAPER in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder and retinitis pigmentosa OMIM #618195
Red SCAPER in Retinitis pigmentosa_Autosomal Recessive/X-linked Level 2: Ophthalmological disorders Version 0.155 Component of the following Super Panels: Retinal Disorders Superpanel Retinitis Pigmentosa Superpanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Literature Phenotypes Intellectual developmental disorder and retinitis pigmentosa MIM#618195
Green SCAPER in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.219 Component of the following Super Panels: Retinal Disorders Superpanel	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Green Expert list Expert Review Expert Review Green Expert list Expert list Expert Review Green Literature Phenotypes Intellectual developmental disorder and retinitis pigmentosa MIM#618195
Green SCAPER in Severe early-onset obesity Level 2: Endocrine disorders Version 1.13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Intellectual developmental disorder and retinitis pigmentosa, OMIM #618195 Bardet-Biedl syndrome