KDM5B

lysine demethylase 5B
OMIM: 605393, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green KDM5B in Autism Level 2: Neurology and neurodevelopmental disorders Version 0.198	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder (MONDO#0700092), KDM5B-related, autosomal dominant Intellectual developmental disorder, autosomal recessive 65 (MIM#618109)
Green KDM5B in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 65 MIM#618109 Neurodevelopmental disorder (MONDO#0700092), KDM5B-related, autosomal dominant
Green KDM5B in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal recessive 65 MIM#618109 Neurodevelopmental disorder (MONDO#0700092), KDM5B-related, autosomal dominant
Red KDM5B in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Congenital heart disease
Red KDM5B in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart disease