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Skeletal dysplasia

Gene: SFRP4

Green List (high evidence)
SFRP4 (secreted frizzled related protein 4)
EnsemblGeneIds (GRCh38): ENSG00000106483
EnsemblGeneIds (GRCh37): ENSG00000106483
OMIM: 606570, Gene2Phenotype
SFRP4 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Pyle disease is characterized by long bones with wide and expanded trabecular metaphyses, thin cortical bone, and bone fragility.
Created: 14 Apr 2022, 6:08 a.m. | Last Modified: 14 Apr 2022, 6:08 a.m.
Panel Version: 0.161

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pyle disease, MIM# 265900

Created: 14 Apr 2022, 6:08 a.m.
Last Modified: 14 Apr 2022, 6:08 a.m.
Panel version: 0.161

Samantha Ayres (Victorian Clinical Genetics Services)

Green List (high evidence)

Part of Wnt signalling pathway
Shown to be an extracellular Wnt antagonist in mice.

Four individuals with biallelic truncating variants described in Kiper et al 2016 study - two of which were siblings.
All four individuals had imaging consistent with Pyle disease. Knock-out mouse models show similar phenotype.
Functional studies on skin fibroblasts also demonstrate 'severe reduction' in mRNA in one of the individuals described in this paper.
Created: 12 Apr 2022, 11:59 p.m. | Last Modified: 12 Apr 2022, 11:59 p.m.
Panel Version: 0.161

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pyle disease, MIM#265900

Publications

Created: 12 Apr 2022, 11:59 p.m.
Last Modified: 12 Apr 2022, 11:59 p.m.
Panel version: 0.161

Details

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

History Filter Activity

14 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sfrp4 has been classified as Green List (High Evidence).

14 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SFRP4 were changed from PYL; Pyle disease 265900; Metaphyseal dysplasia to Pyle disease, MIM#265900

14 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SFRP4 were set to 28100910; 27355534; 26273529; 27117872; 20174869; 24096177; 22965941; 22387305

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SFRP4 was added gene: SFRP4 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green Mode of inheritance for gene: SFRP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SFRP4 were set to 28100910; 27355534; 26273529; 27117872; 20174869; 24096177; 22965941; 22387305 Phenotypes for gene: SFRP4 were set to PYL; Pyle disease 265900; Metaphyseal dysplasia