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  3. KAT6B
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Skeletal dysplasia

Gene: KAT6B

Green List (high evidence)
KAT6B (lysine acetyltransferase 6B)
EnsemblGeneIds (GRCh38): ENSG00000156650
EnsemblGeneIds (GRCh37): ENSG00000156650
OMIM: 605880, Gene2Phenotype
KAT6B is in 15 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Variants leading to GPS occur in the proximal portion of the last exon and lead to the expression of a protein without an activation domain. Mutations leading to SBBYSS occur either throughout the gene, leading to nonsense-mediated decay, or more distally in the last exon Campeau et al (2013), Zhang (2020)

Gain of function proposed for variants causing GPS and loss of function (haploinsufficiency) proposed for variants causing SBBYSS (Campeau, P. et al (2013))
Created: 15 Jan 2021, 1:47 a.m. | Last Modified: 15 Jan 2021, 1:47 a.m.
Panel Version: 0.6026

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
SBBYSS syndrome MIM#603736; Genitopatellar syndrome MIM#606170

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Jan 2021, 1:47 a.m.
Last Modified: 15 Jan 2021, 1:47 a.m.
Panel version: Imported from Mendeliome panel version 0.6026

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • SBBYSS syndrome 603736
  • GTPTS,Ohdo
  • Genitopatellar syndrome 606170
OMIM
605880
Clinvar variants
Variants in KAT6B
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KAT6B was added gene: KAT6B was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KAT6B were set to SBBYSS syndrome 603736; GTPTS,Ohdo; Genitopatellar syndrome 606170