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  2. Currarino triad
  3. GDF11
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Currarino triad

Gene: GDF11

Red List (low evidence)
GDF11 (growth differentiation factor 11)
EnsemblGeneIds (GRCh38): ENSG00000135414
EnsemblGeneIds (GRCh37): ENSG00000135414
OMIM: 603936, Gene2Phenotype
GDF11 is in 4 panels

2 reviews

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Mode of inheritance
Unknown

Phenotypes
anteroposterior patterning defects, renal and palatal agenesis, presacral mass, anorectal malformation, and exomphalos

Created: 3 Nov 2016, 11:48 a.m.

Panel version: 0.5

Rebecca Foulger (Genomics England curator)

GDF11 is included in this panel because mouse mutant phenotypes resemble those of human Currarino phenotypes. PMID:18519639 found that knockout of Gdf11 in mice resulted in phenotypes including presacral mass and anorectal malformation.
Created: 24 Oct 2016, 8:03 a.m.
Created: 24 Oct 2016, 8:03 a.m.

Panel version: 0.4

Details

Mode of Inheritance
Unknown
Sources
  • Other
Phenotypes
  • anteroposterior patterning defects, renal and palatal agenesis, presacral mass, anorectal malformation, and exomphalos
OMIM
603936
Clinvar variants
Variants in GDF11
Penetrance
Complete
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)

GDF11 was created by rfoulger

24 Oct 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

GDF11 was added to Currarino triadpanel. Sources: Other