KAT6B

lysine acetyltransferase 6B
OMIM: 605880, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Amber KAT6B in Periventricular Grey Matter Heterotopia Level 2: Neurology and neurodevelopmental disorders Version 1.2 Component of the following Super Panels: Malformations of cortical development_Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes SBBYSS syndrome MIM #603736 Genitopatellar syndrome MIM #606170
Green KAT6B in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.411 Component of the following Super Panels: Neuromuscular Superpanel	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green KAT6B 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 SBBYSS syndrome, MIM# 603736 MONDO:0011365
Red KAT6B in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes SBBYSS syndrome, MIM#603736 Genitopatellar syndrome, MIM#606170
Green KAT6B in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.418	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green KAT6B in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.68	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes SBBYSS syndrome, MIM# 603736
Red KAT6B in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.313	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Other
Green KAT6B in Mendeliome Version 1.1902	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes SBBYSS syndrome MIM#603736 Genitopatellar syndrome MIM#606170 KAT6B-related multiple congenital anomalies syndrome MONDO:0036042
Green KAT6B in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green KAT6B in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	Unknown	Sources Genetic Health Queensland Expert Review Green
Green KAT6B in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes SBBYSS syndrome 603736 GTPTS,Ohdo Genitopatellar syndrome 606170
Green KAT6B in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green BabySeq Category A gene Phenotypes SBBYSS syndrome MIM #603736 Genitopatellar syndrome MIM #606170
Green KAT6B in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Genitopatellar syndrome, OMIM:606170 SBBYSS syndrome, OMIM:603736
Green KAT6B in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Other Phenotypes SBBYSS syndrome MIM#603736 Genitopatellar syndrome MIM#606170
Red KAT6B in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes SBBYSS syndrome MIM #603736 Genitopatellar syndrome MIM #606170