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  3. SFRP4
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Fetal anomalies

Gene: SFRP4

Red List (low evidence)
SFRP4 (secreted frizzled related protein 4)
EnsemblGeneIds (GRCh38): ENSG00000106483
EnsemblGeneIds (GRCh37): ENSG00000106483
OMIM: 606570, Gene2Phenotype
SFRP4 is in 3 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

Red List (low evidence)

Green on limb disorders, skeletal dysplasia panels. No ClinGen gene-disease validity curation. Patients have long bones with wide and expanded trabecular metaphyses, thin cortical bone, and bone fragility. Fractures are common in Pyle disease. No evidence that this would be picked up prenatally.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pyle disease, MIM#265900

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Pyle disease, OMIM:265900
OMIM
606570
Clinvar variants
Variants in SFRP4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SFRP4 was added gene: SFRP4 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: SFRP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SFRP4 were set to 20174869; 27117872; 28100910; 22387305; 26273529; 27355534; 22965941; 24096177 Phenotypes for gene: SFRP4 were set to Pyle disease, OMIM:265900