Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: SLC25A24

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

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.