Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: KAT6B
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
• 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
Bashir et al 2017 report 2 cases with Lin-Gettig syndrome phenotype with sagittal CSS. ; Review on behalf of Tracy Lester and Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Phenotypes
KAT6B-related disorders
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: amberCreated: 5 Mar 2019, 11:21 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag Q2_23_promote_green was removed from gene: KAT6B.
Source Expert Review Green was added to KAT6B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_23_promote_green tag was added to gene: KAT6B.
Gene: kat6b has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: KAT6B were changed from KAT6B-related disorders to KAT6B-related disorders; Genitopatellar syndrome, OMIM:606170
Publications for gene: KAT6B were set to
Mode of inheritance for gene: KAT6B was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes KAT6B-related disorders for gene: KAT6B
gene: KAT6B was added gene: KAT6B was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: KAT6B was set to