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  3. KAT6B
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Fetal anomalies

Gene: KAT6B

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

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

microcephaly, cardiac and skeletal defects are some features of these two syndromes

Gain of function proposed for variants causing GPS and loss of function (haploinsufficiency) proposed for variants causing SBBYSS (Campeau, P. et al (2013))
Created: 21 Nov 2021, 11:16 p.m. | Last Modified: 21 Nov 2021, 11:16 p.m.
Panel Version: 0.582

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

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

Created: 21 Nov 2021, 11:16 p.m.
Last Modified: 21 Nov 2021, 11:16 p.m.
Panel version: 0.582

George McGillivray (Victorian Clinical Genetics Services)

Red List (low evidence)

20191230- Currently on the Greenwood Genetic Centre List but no Pubmed evidence that I can find
Sources: Other
Created: 30 Dec 2019, 3:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 30 Dec 2019, 3:51 a.m.

Panel version: Imported from Hydrops fetalis panel version 0.45

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • SBBYSS syndrome MIM#603736
  • Genitopatellar syndrome MIM#606170
OMIM
605880
Clinvar variants
Variants in KAT6B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Nov 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).

22 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KAT6B were changed from GENITOPATELLAR SYNDROME; BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE to SBBYSS syndrome MIM#603736; Genitopatellar syndrome MIM#606170

22 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KAT6B were set to

22 Nov 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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, 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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KAT6B were set to GENITOPATELLAR SYNDROME; BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE