KCNK9

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Red KCNK9 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.389	review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Red Literature Phenotypes Birk-Barel syndrome (KCNK9 imprinting syndrome), MIM#612292
Green KCNK9 in Mendeliome Version 1.2374	review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Birk-Barel syndrome, MIM# 612292 MONDO:0012856
Green KCNK9 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Genetic Health Queensland Phenotypes Birk-Barel syndrome, MIM# 612292 MONDO:0012856
Green KCNK9 in Imprinting disorders Version 1.5	review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Genomics England PanelApp Phenotypes Phenotype resulting from under expression: mental retardation, hypotonia, dysmprophism Affected tissue: brain Birk-Barel syndrome, MIM# 612292 MONDO:0012856

4 panels