Craniosynostosis

Gene: SLC25A24

Green List (high evidence)

SLC25A24 (solute carrier family 25 member 24)
EnsemblGeneIds (GRCh38): ENSG00000085491
EnsemblGeneIds (GRCh37): ENSG00000085491
OMIM: 608744, Gene2Phenotype
SLC25A24 is in 7 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Green - R217 codon. Writzl et al 2017 report 4 cases with same R217H variant, 2 had CSS. Ehmke et al 2017 report 5 further cases - all had R217H or R217C & coronal CSS was confirmed in 4. Also Gorlin-Chaudhry-Moss ; Review on behalf of Tracy Lester/Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Fontaine progeroid syndrome -612289; Gorlin-Chaudhry-Moss

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Upgrading from red to green. Green rating agreed at the GMS musculoskeletal specialist test group Webex on 2019-05-13. . > 3 cases but same variant in 4 cases and same codon in all, likely because activating mutation rather than founder effect.
Created: 21 May 2019, 12:13 p.m.
Comment on publications: Writzl et al 2017 PMID: 29100094
Ehmke et al 2017 PMID: 29100093
Created: 2 May 2019, 9:55 p.m.
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: SLC25A24; Suggested initial gene rating: green
Created: 5 Mar 2019, 11:21 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Fontaine progeroid syndrome 612289
  • Gorlin-Chaudhry-Moss
OMIM
608744
Clinvar variants
Variants in SLC25A24
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 May 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: slc25a24 has been classified as Green List (High Evidence).

21 May 2019, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: SLC25A24 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Fontaine progeroid syndrome 612289; Gorlin-Chaudhry-Moss for gene: SLC25A24

2 May 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: SLC25A24 were set to

5 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: SLC25A24 was added gene: SLC25A24 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: SLC25A24 was set to