KAT6B

lysine acetyltransferase 6B
OMIM: 605880, ClinGen, DECIPHER

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 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	1 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 1.14 Component of the following Super Panels: Neuromuscular Superpanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes KAT6B-related multiple congenital anomalies syndrome MONDO:0036042
Green KAT6B in Blepharophimosis Level 2: Ophthalmological disorders Version 1.3	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 1.407	1 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 0.522	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green KAT6B in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.74	1 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 0.328	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Other
Green KAT6B in Mendeliome Version 1.4215	1 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
Red KAT6B in Rasopathy Level 2: Dysmorphic and congenital abnormality syndromes Version 0.113	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red ClinGen Phenotypes RASopathy, MONDO:0021060 Tags disputed
Green KAT6B in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.588	0 reviews	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 1.638	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes KAT6B-related multiple congenital anomalies syndrome MONDO:0036042
Green KAT6B in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.402	1 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 0.280	1 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 0.310	1 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 1.522	2 reviews	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 Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.147	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes SBBYSS syndrome MIM #603736 Genitopatellar syndrome MIM #606170