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Mendeliome

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

Details

Mode of Inheritance
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
OMIM
605880
Clinvar variants
Variants in KAT6B
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: KAT6B were changed from SBBYSS syndrome MIM#603736; Genitopatellar syndrome MIM#606170 to SBBYSS syndrome MIM#603736; Genitopatellar syndrome MIM#606170; KAT6B-related multiple congenital anomalies syndrome MONDO:0036042

16 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kat6b has been classified as Green List (High Evidence).

16 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KAT6B were changed from to SBBYSS syndrome MIM#603736; Genitopatellar syndrome MIM#606170

16 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KAT6B were set to

16 Jan 2021, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: KAT6B was changed from to Other

16 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KAT6B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KAT6B was added gene: KAT6B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KAT6B was set to Unknown