Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: KAT6B

Green List (high evidence)

Comment on list classification: As reviewed by Rebecca Tooze (University of Oxford), there are three unrelated cases to support the promotion of this gene to GREEN rating in the next GMS update.

Created: 10 May 2023, 5:56 p.m. | Last Modified: 10 May 2023, 5:56 p.m.

Panel Version: 4.37

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Genitopatellar syndrome, OMIM:606170

Publications

• 28696035
• 33288889

Green List (high evidence)

• A de novo variant was identified in a study of Norwegian patients with craniosynostosis: c.3769_3772del; p.(Lys1258Glyfs*13) (Tønne et al., 2021).
• Exome sequencing identified a de novo variant in KAT6B, c.4572dupT; p.(Thr1525Tyrfs*16) in a patient with a phenotype suggestive of Lin-Gettig syndrome and sagittal synostosis. A second patient with sagittal synostosis was also found to harbour a de novo variant in KAT6B: c.4205_4206delCT; p.(Ser1402Cysfs*5) (Bashir et al., 2017).

Created: 2 Mar 2023, 1:30 p.m. | Last Modified: 2 Mar 2023, 1:30 p.m.

Panel Version: 3.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

I don't know

Bashir et al 2017 report 2 cases with Lin-Gettig syndrome phenotype with sagittal CSS. ; Review on behalf of Tracy Lester and Andrew Wilkie

Created: 5 Mar 2019, 11:33 a.m.

Phenotypes
KAT6B-related disorders

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 11 Oct 2023, 11:55 a.m. | Last Modified: 11 Oct 2023, 11:55 a.m.

Panel Version: 4.174

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; Suggested initial gene rating: amber

Created: 5 Mar 2019, 11:21 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted