Craniosynostosis
Gene: KAT6B
KAT6B (lysine acetyltransferase 6B)
EnsemblGeneIds (GRCh38): ENSG00000156650
EnsemblGeneIds (GRCh37): ENSG00000156650
OMIM: 605880, Gene2Phenotype
KAT6B is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000156650
EnsemblGeneIds (GRCh37): ENSG00000156650
OMIM: 605880, Gene2Phenotype
KAT6B is in 15 panels
1 review
Yetong Chen (University of Melbourne)
Three unrelated patients are reported.
PMID 33288889 reports a patient with a KAT6B variant (c.3769_3772del, p.Lys1258Glyfs*13) who was diagnosed with craniosynostosis.
PMID 28696035 reports 2 patients with different monoallelic KAT6B variants (c.4572dupT, p.Thr1525Tyrfs*16 and c.4205_4206delCT, p.Ser1402Cysfs*5, respectively) who had sagittal craniosynostosis.
Sources: Expert ReviewCreated: 16 May 2023, 6:53 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
SBBYSS syndrome, MIM# 603736
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- SBBYSS syndrome, MIM# 603736
- OMIM
- 605880
- Clinvar variants
- Variants in KAT6B
- Penetrance
- None
- Publications
- Panels with this gene
-
- Clefting disorders
- Blepharophimosis
- Periventricular Grey Matter Heterotopia
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Craniosynostosis
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Arthrogryposis
- Mendeliome
- Callosome
- Cerebral Palsy
History Filter Activity
18 May 2023, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kat6b has been classified as Green List (High Evidence).
18 May 2023, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kat6b has been classified as Green List (High Evidence).
16 May 2023, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Yetong Chen (University of Melbourne)gene: KAT6B was added gene: KAT6B was added to Craniosynostosis. Sources: Expert Review Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KAT6B were set to 33288889; 28696035 Phenotypes for gene: KAT6B were set to SBBYSS syndrome, MIM# 603736 Review for gene: KAT6B was set to GREEN