Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: KMT2D
GeneReviews don't mention CSS. Topa et al state that CSS has been rarely described. Their case also had a 10q22.3q23.1del. Armstrong et al state 6% of 48 clinically confirmed cases have CSS (molecular cause unknown). Martinez-Lage 2010 state CSS is 'rarely documented', but may be a relatively frequent feature, and review reported cases. ; Review on behalf of Tracy Lester/Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Kabuki syndrome 147920
Publications
Associated with Kabuki syndrome (#147920) in OMIM with many cases reported.Created: 14 Aug 2019, 1:03 p.m. | Last Modified: 14 Aug 2019, 1:03 p.m.
Panel Version: 1.124
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: KMT2D; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
Craniosynostosis is a recognised but low frequency complication of Kabuki syndrome. Diagnosis requires relevant mutation type and clinical features of Kabuki.Created: 15 Sep 2015, 6:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Kabuki syndrome
Publications
Phenotypes for gene: KMT2D were changed from Kabuki syndrome 147920; 147920 to Kabuki syndrome 1, OMIM:147920
Added phenotypes Kabuki syndrome 147920 for gene: KMT2D
Source NHS GMS was added to KMT2D. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for KMT2D were set to 147920
Publications for KMT2D were set to 20672944; 21280141
Mode of inheritance for KMT2D was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
KMT2D was added to Craniosynostosis syndromespanel. Sources: Expert list