Skeletal dysplasia

Gene: KAT6A

?Remove from SD as low evidence for predominantly Craniosynostosis phenotype.
Am J Hum Genet. 2015 Mar 5;96(3):507-13. doi: 10.1016/j.ajhg.2015.01.016. Epub 2015 Feb 26.
...hypotonia, intellectual disability, early feeding and oromotor difficulties, microcephaly and/or craniosynostosis, and cardiac defects in combination with subtle facial features...

Created: 6 Sep 2019, 3:31 p.m. | Last Modified: 6 Sep 2019, 3:31 p.m.

Panel Version: 1.193

Green List (high evidence)

Dysmorphic with craniosynostosis and poor growth - ?SD. Several cases; Review on behalf of Tracy Lester

Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 32 - 616268

I don't know

Comment on list classification: Making this gene grey as there is agreement from GMS musculoskeletal group (Tracy Lester) that there is no major skeletal involvement. It is green on the Craniosynostosis panel.

Created: 28 Nov 2019, 11:31 a.m. | Last Modified: 28 Nov 2019, 11:31 a.m.

Panel Version: 1.245

Associated with Mental retardation, autosomal dominant 32 #616268 (AD) in OMIM.

PMID: 25728777 -Tham et al 2015 - report six individuals from five unrelated families, with mutations in KAT6A detected by whole-exome sequencing. 5 different de novo heterozygous truncating mutations were identified. An additional subject with a 0.23 MB microdeletion including the entire KAT6A reading frame was identified with genome-wide array comparative genomic hybridization. Craniosynostosis was reported in 2 families. No other major skeletal abnormalities were reported.

Created: 21 Nov 2019, 12:52 a.m. | Last Modified: 21 Nov 2019, 12:52 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: KAT6A; Initial rating suggestion: green if SD

Created: 6 Mar 2019, 11:36 a.m.