Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: SPRY1
Comment on list classification: As reviewed by Rebecca Tooze (University of Oxford), there is one case and supporting functional evidence. Hence, this gene should be rated AMBER.Created: 12 May 2023, 6:48 p.m. | Last Modified: 12 May 2023, 6:48 p.m.
Panel Version: 4.92
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
craniosynostosis, MONDO:0015469
Publications
• Single report of a homozygous loss of function variant (c.80T>A; p.(Leu27*)) in a patient with sagittal craniosynostosis, alongside hearing and kidney anomalies. Functional studies show complete absence of the protein and support variant pathogenicity (Tooze et al., 2022a). This is the first human description but there are available animal models showing the role of SPRY1 in craniofacial development.
• An individual was described with a heterozygous variant in SPRY1: p.(Gln6fs) (Timberlake et al., 2017), but evidence suggests that heterozygous loss-of-function variants are not pathogenic (see above reference).
Sources: LiteratureCreated: 2 Mar 2023, 1:48 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Gene: spry1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SPRY1 were changed from to craniosynostosis, MONDO:0015469
Publications for gene: SPRY1 were set to PMID36543535
Publications for gene: SPRY1 were set to PMID36543535
Publications for gene: SPRY1 were set to PMID: 36543535
Publications for gene: SPRY1 were set to PMID: 36543535
gene: SPRY1 was added gene: SPRY1 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: SPRY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPRY1 were set to PMID: 36543535 Review for gene: SPRY1 was set to AMBER