PRDM13

PR/SET domain 13
OMIM: 616741, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green PRDM13 in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 1.65	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia, type 17, MIM# 619909 Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761
Amber PRDM13 in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 0.293	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761 Tags founder
Green PRDM13 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Chorioretinal atrophy, progressive bifocal, MIM# 600790 Pontocerebellar hypoplasia, type 17, MIM# 619909 Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 61976 Tags SV/CNV 5'UTR founder
Green PRDM13 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia, type 17, MIM# 619909 Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761 Tags founder
Green PRDM13 in Macular Dystrophy/Stargardt Disease Level 2: Ophthalmological disorders Version 0.45 Component of the following Super Panels: Retinal Disorders Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Macular dystrophy, North Carolina type, MIM#136550 Retinal dystrophy Chorioretinal atrophy, progressive bifocal, MIM# 600790 Tags SV/CNV 5'UTR