Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: OGT
Comment on list classification: As there are only two cases reported so far, this gene should be rated AMBER.Created: 12 May 2023, 1:40 p.m. | Last Modified: 12 May 2023, 1:40 p.m.
Panel Version: 4.82
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Intellectual developmental disorder, X-linked 106, OMIM:300997
Publications
• A de novo variant in OGT was identified within the 100kGP cohort: c.539A>G; p.(Tyr180Cys) (Hyder et al., 2021).
• An analysis of a cohort of patients with trigonocephaly identified a splicing variant in OGT: c.1947+5A>C. The patient displayed a delay in speech acquisition, hyperkinesia, sleep disorders and trigonocephaly (Suzuki et al., 2020).
Sources: LiteratureCreated: 2 Mar 2023, 1:46 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: ogt has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: OGT was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OGT were set to
Phenotypes for gene: OGT were changed from to Intellectual developmental disorder, X-linked 106, OMIM:300997
gene: OGT was added gene: OGT was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: OGT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for gene: OGT was set to AMBER