GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: KAT6B

KAT6B (lysine acetyltransferase 6B)
EnsemblGeneIds (GRCh38): ENSG00000156650
EnsemblGeneIds (GRCh37): ENSG00000156650
OMIM: 605880, Gene2Phenotype
KAT6B is in 8 panels

1 review

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, 11:52 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

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS

Phenotypes

SBBYSS syndrome 603736
Genitopatellar syndrome 606170

OMIM

605880

Clinvar variants

Variants in KAT6B

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: KAT6B was added gene: KAT6B was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KAT6B were set to SBBYSS syndrome 603736; Genitopatellar syndrome 606170

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: KAT6B