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  3. SPRY1
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Craniosynostosis

Gene: SPRY1

Amber List (moderate evidence)
SPRY1 (sprouty RTK signaling antagonist 1)
EnsemblGeneIds (GRCh38): ENSG00000164056
EnsemblGeneIds (GRCh37): ENSG00000164056
OMIM: 602465, Gene2Phenotype
SPRY1 is in 2 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

I don't know

no homozygous PTCs in gnomAD

PMID: 36543535:
- Hom null mutant mice display kidney/urinary tract abnormalities and altered size of the skull, het mice were normal
- 1 hom proband (3' NMD escape PTC) with sagittal craniosynostosis
- Functional studies proved NMD escape, but loss of full length protein
Sources: Literature
Created: 2 Feb 2023, 3:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
raniosynostosis MONDO:0015469

Publications

Created: 2 Feb 2023, 3:49 a.m.

Panel version: 1.46

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Craniosynostosis, SPRY1-related, MONDO:0015469
OMIM
602465
Clinvar variants
Variants in SPRY1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Feb 2023, Gel status: 2

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: SPRY1 were changed from Craniosynostosis, SPRY1-related, MONDO:0015469 to Craniosynostosis, SPRY1-related, MONDO:0015469

2 Feb 2023, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: spry1 has been classified as Amber List (Moderate Evidence).

2 Feb 2023, Gel status: 2

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: SPRY1 were changed from raniosynostosis MONDO:0015469 to Craniosynostosis, SPRY1-related, MONDO:0015469

2 Feb 2023, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: spry1 has been classified as Amber List (Moderate Evidence).

2 Feb 2023, Gel status: 1

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: spry1 has been classified as Red List (Low Evidence).

2 Feb 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

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 36543535 Phenotypes for gene: SPRY1 were set to raniosynostosis MONDO:0015469 Review for gene: SPRY1 was set to AMBER