NUP188:Ensemblv90

nucleoporin 188
OMIM: 615587, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green NUP188 in Cataract Level 2: Ophthalmological disorders Version 0.396	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sandestig-Stefanova syndrome, 618804 microcephaly ID cataract structural brain abnormalities hypoventilation
Green NUP188 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.511	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Sandestig-Stefanova syndrome MIM 618804
Green NUP188 in Mendeliome Version 1.3802	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sandestig-Stefanova syndrome, 618804 microcephaly ID cataract structural brain abnormalities hypoventilation
Green NUP188 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.376	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sandestig-Stefanova syndrome, 618804 microcephaly ID cataract structural brain abnormalities hypoventilation
Green NUP188 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Sandestig-Stefanova syndrome, 618804 microcephaly ID cataract structural brain abnormalities hypoventilation
Green NUP188 in Fetal anomalies Version 1.482	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Sandestig-Stefanova syndrome, 618804 microcephaly ID cataract structural brain abnormalities
Green NUP188 in Cataract Level 2: Ophthalmological disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Sandestig-Stefanova syndrome, 618804 microcephaly ID cataract structural brain abnormalities hypoventilation
Green NUP188 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Sandestig-Stefanova syndrome MIM 618804
Green NUP188 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Sandestig-Stefanova syndrome, 618804 microcephaly ID cataract structural brain abnormalities