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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 8 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Patellar dysostoses gp of SD - >3 cases, de novo truncating mutations in exon 18. GTPTS - trncating variants in exon 18 only. SBBYSS has overlapping clinical features - also mostly exon 18 truncations.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Genitopatellar syndrome 606170; SBBYSS syndrome 603736

Mode of pathogenicity
Other - please provide details in the comments

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: More than 3 cases reported.
Created: 21 Nov 2019, 1 a.m. | Last Modified: 21 Nov 2019, 1 a.m.
Panel Version: 1.228
Associated with Genitopatellar syndrome #606170 (AD) in OMIM. Abnormalities of the pelvis, limbs, hands and feet listed. >3 cases reported in OMIM.
Created: 21 Nov 2019, 12:58 a.m. | Last Modified: 21 Nov 2019, 12:58 a.m.
Panel Version: 1.226
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: KAT6B; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Genitopatellar syndrome 606170
  • SBBYSS syndrome 603736
  • GTPTS,Ohdo
OMIM
605880
Clinvar variants
Variants in KAT6B
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

21 Nov 2019, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: KAT6B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

6 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes SBBYSS syndrome 603736; Genitopatellar syndrome 606170 for gene: KAT6B

6 Mar 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to KAT6B.

9 Aug 2016, Gel status: 0

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

KAT6B was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

KAT6B was created by sleigh