Limb disorders
Gene: SFRP4
SFRP4 (secreted frizzled related protein 4)
EnsemblGeneIds (GRCh38): ENSG00000106483
EnsemblGeneIds (GRCh37): ENSG00000106483
OMIM: 606570, Gene2Phenotype
SFRP4 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000106483
EnsemblGeneIds (GRCh37): ENSG00000106483
OMIM: 606570, Gene2Phenotype
SFRP4 is in 3 panels
3 reviews
Eleanor Williams (Genomics England Curator)
Genomics England clinical team - Agree with green rating, mostly limbCreated: 9 Sep 2018, 5:55 p.m.
Louise Daugherty (Genomics England Curator)
Comment on phenotypes: added synonymCreated: 6 Apr 2018, 1:01 p.m.
Comment on publications: added PMID 28100910 further evidence to support gene-phenotype which reports a 11-year-old female with PYL, and found a novel homozygous nonsense variant, c.183C>G (p.Y61*). Segregation analysis in the patient revealed a germline mutation, resulting in reduced protein formation. This is the second report from a fourth affected family with a SFRP4 mutation causing PYL disease.Created: 6 Apr 2018, 12:56 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: PMID:27355534 - A brother and sister with Pyle disease were homozygous for a frameshift variant in this gene, with unaffected parents and brother heterozygous. An additional two unrelated cases with loss of function variants are reported, however without evidence of segregation. These variants were identified with a variant filtering pipeline for rare variants. Features similar to Pyle disease were observed in knockout mice. Treatment of Sfrp4-deficient mice with a soluble Bmp2 receptor (RAP-661) or with antibodies to sclerostin corrected the cortical-bone defect. Other publications contribute evidence towards the role of this gene in bone density, skeletal development and the Wnt signalling pathway.Created: 6 Apr 2018, 12:50 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Pyle disease, 265900
- PYL
- Metaphyseal dysplasia
- OMIM
- 606570
- Clinvar variants
- Variants in SFRP4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
11 Dec 2018, Gel status: 3
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ellen McDonagh: Comment on list classification
6 Apr 2018, Gel status: 3
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
6 Apr 2018, Gel status: 2
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for SFRP4 were set to Pyle disease, 265900; PYL; Metaphyseal dysplasia
6 Apr 2018, Gel status: 2
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for SFRP4 were set to Pyle disease, 265900; PYL
6 Apr 2018, Gel status: 2
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for SFRP4 were set to Pyle disease, 265900
6 Apr 2018, Gel status: 2
Set publications
Louise Daugherty (Genomics England Curator)Publications for SFRP4 were set to 27355534; 27117872; 24096177; 26273529; 22965941; 22387305; 20174869; 27117872; 28100910
6 Apr 2018, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
6 Apr 2018, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SFRP4 was added to Limb disorders panel. Sources: Literature
6 Apr 2018, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)SFRP4 was created by Ellen McDonagh