Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: OGTEnsemblGeneIds (GRCh38): ENSG00000147162
EnsemblGeneIds (GRCh37): ENSG00000147162
OMIM: 300255, Gene2Phenotype
OGT is in 3 panels
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
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
Rebecca Tooze (University of Oxford)
• 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
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Intellectual developmental disorder, X-linked 106, OMIM:300997
- OMIM
- 300255
- Clinvar variants
- Variants in OGT
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: ogt has been classified as Amber List (Moderate Evidence).
Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)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
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: OGT were set to
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: OGT were changed from to Intellectual developmental disorder, X-linked 106, OMIM:300997
Created, Added New Source, Set mode of inheritance
Rebecca Tooze (University of Oxford)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