Currarino triad
Gene: PCSK5
PCSK5 (proprotein convertase subtilisin/kexin type 5)
EnsemblGeneIds (GRCh38): ENSG00000099139
EnsemblGeneIds (GRCh37): ENSG00000099139
OMIM: 600488, Gene2Phenotype
PCSK5 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000099139
EnsemblGeneIds (GRCh37): ENSG00000099139
OMIM: 600488, Gene2Phenotype
PCSK5 is in 1 panel
2 reviews
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
Unknown
Phenotypes
cardiac, tracheoesophageal, anorectal, and anteroposterior patterning defects, exomphalos, hindlimb hypoplasia, presacral mass, renal and palatal agenesis, and pulmonary hypoplasia
Publications
Rebecca Foulger (Genomics England curator)
PCSK5 is included in this panel because mouse mutant phenotypes resemble those of human Currarino phenotypes. PMID:18519639 found that an ENU-induced recessive mouse mutation resulted in a pleiotropic phenotype including anorectal defects and presacral mass. PCSK5 cleaves and activates GDF11 (also on the Currarino triad gene panel on the basis of mouse phenotypes).Created: 24 Oct 2016, 8:01 a.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Other
- Phenotypes
-
- cardiac, tracheoesophageal, anorectal, and anteroposterior patterning defects, exomphalos, hindlimb hypoplasia, presacral mass, renal and palatal agenesis, and pulmonary hypoplasia
- OMIM
- 600488
- Clinvar variants
- Variants in PCSK5
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
3 Nov 2016, Gel status: 0
panel promoted to version 1
Rebecca Foulger (Genomics England curator)3 November 2016: Panel review was assessed and panel was revised according to expert review and additional curation.
24 Oct 2016, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)PCSK5 was created by rfoulger
24 Oct 2016, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)PCSK5 was added to Currarino triadpanel. Sources: Other