Craniosynostosis
Gene: SLC25A24EnsemblGeneIds (GRCh38): ENSG00000085491
EnsemblGeneIds (GRCh37): ENSG00000085491
OMIM: 608744, Gene2Phenotype
SLC25A24 is in 6 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
At least 4 unrelated cases with recurrent de novo mutations c.650G>A (p.Arg217His) and c.649C>T (p.Arg217Cys) with craniosynostosis as a feature of the condition. Gain of function is the expected mechanism of disease.Created: 3 Jun 2020, 11:52 p.m. | Last Modified: 3 Jun 2020, 11:52 p.m.
Panel Version: 0.34
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Fontaine progeroid syndrome MIM#612289
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Fontaine progeroid syndrome MIM#612289
- OMIM
- 608744
- Clinvar variants
- Variants in SLC25A24
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: slc25a24 has been classified as Green List (High Evidence).
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: SLC25A24 were changed from to Fontaine progeroid syndrome MIM#612289
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: SLC25A24 were set to
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: SLC25A24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SLC25A24 was added gene: SLC25A24 was added to Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC25A24 was set to Unknown