KAT6A

lysine acetyltransferase 6A
OMIM: 601408, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green KAT6A in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green KAT6A in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Arboleda-Tham syndrome MIM#616268

Green KAT6A in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green KAT6A in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Arboleda-Tham syndrome, MIM#616268

Green KAT6A in Mendeliome


Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Arboleda-Tham syndrome MIM#616268

Green KAT6A in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Arboleda-Tham syndrome MIM#616268

Green KAT6A in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • syndromic intellectual disability MONDO:0000508

Green KAT6A in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
  • MRD32

Green KAT6A in Fetal anomalies


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Arboleda-Tham syndrome MIM#616268

Green KAT6A in Speech apraxia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Arboleda-Tham syndrome, MIM# 616268