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  3. KAT6B
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Blepharophimosis

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, blepharophimosis is a feature.
Created: 5 Jun 2021, 11:51 p.m. | Last Modified: 5 Jun 2021, 11:51 p.m.
Panel Version: 0.51

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
SBBYSS syndrome, MIM# 603736; MONDO:0011365

Publications

Created: 5 Jun 2021, 11:51 p.m.
Last Modified: 5 Jun 2021, 11:51 p.m.
Panel version: 0.51

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • SBBYSS syndrome, MIM# 603736
  • MONDO:0011365
OMIM
605880
Clinvar variants
Variants in KAT6B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jun 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).

5 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KAT6B were changed from SBBYSS syndrome, MIM# 603736; MONDO:0011365 to SBBYSS syndrome, MIM# 603736; MONDO:0011365

5 Jun 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; MONDO:0011365

5 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KAT6B were set to

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