Skeletal dysplasiaGene: KAT6B
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
Genitopatellar syndrome 606170; SBBYSS syndrome 603736
Mode of pathogenicity
Other - please provide details in the comments
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.
Gene: kat6b has been classified as Green List (High Evidence).
Mode of inheritance for gene: KAT6B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes SBBYSS syndrome 603736; Genitopatellar syndrome 606170 for gene: KAT6B
Source NHS GMS was added to KAT6B.
Promoted to version 1 9th August 2016
KAT6B was added to Unexplained skeletal dysplasiapanel. Sources:
KAT6B was created by sleigh