KANSL1

KAT8 regulatory NSL complex subunit 1
OMIM: 612452, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green KANSL1 in Angelman Rett like syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 1.10	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Koolen-De Vries syndrome, MIM# 610443 MONDO:0012496 Tags SV/CNV
Green KANSL1 in Blepharophimosis Level 2: Ophthalmological disorders Version 1.1	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Koolen-De Vries syndrome, MIM# 610443 MONDO:0012496 Tags SV/CNV
Green KANSL1 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.418	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Koolen-De Vries syndrome, MIM# 610443 Tags SV/CNV
Green KANSL1 in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Koolen-De Vries syndrome (MIM#610443) Tags SV/CNV
Green KANSL1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Koolen-De Vries syndrome MIM#610443
Green KANSL1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Koolen-De Vries syndrome (MIM#610443) Tags SV/CNV
Green KANSL1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Koolen-De Vries syndrome
Red KANSL1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes KDVS Koolen-De Vries syndrome, 610443
Green KANSL1 in Growth failure Version 1.76	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Koolen-De Vries syndrome (MIM#610443) Tags SV/CNV
Green KANSL1 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Koolen-De Vries syndrome (MIM#610443)
Red KANSL1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes Koolen-De Vries syndrome, MIM# 610443