ISCA-37393-Gain

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green ISCA-37393-Gain Region in Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Version 1.53	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert Review Phenotypes Cat eye syndrome, MIM# 115470 coloboma anal atresia heart and renal malformations Tags SV/CNV
Green ISCA-37393-Gain Region in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.511	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert Review Phenotypes Cat eye syndrome, MIM# 115470 coloboma anal atresia heart and renal malformations Tags SV/CNV
Green ISCA-37393-Gain Region in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.304	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert Review Phenotypes Cat eye syndrome, MIM# 115470 coloboma anal atresia heart and renal malformations Tags SV/CNV
Green ISCA-37393-Gain Region in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.507	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert Review Phenotypes Cat eye syndrome, MIM# 115470 coloboma anal atresia heart and renal malformations Tags SV/CNV
Green ISCA-37393-Gain Region in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.293	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert Review Phenotypes Cat eye syndrome, MIM# 115470 coloboma anal atresia heart and renal malformations Tags SV/CNV
Green ISCA-37393-Gain Region in Common deletion and duplication syndromes Version 0.146	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Cat eye syndrome, MIM# 115470 coloboma anal atresia heart and renal malformations Tags SV/CNV
Green ISCA-37393-Gain Region in Fetal anomalies Version 1.482	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert Review Phenotypes Cat eye syndrome, MIM# 115470 coloboma anal atresia heart and renal malformations Tags SV/CNV