Non-syndromic familial congenital anorectal malformations

Gene: PROK1

Red List (low evidence)

PROK1 (prokineticin 1)
EnsemblGeneIds (GRCh38): ENSG00000143125
EnsemblGeneIds (GRCh37): ENSG00000143125
OMIM: 606233, Gene2Phenotype
PROK1 is in 1 panel

1 review

Eleanor Williams (Genomics England Curator)

Comment on phenotypes: Phenotype added from publication PMID:23936318
Created: 14 Aug 2018, 3:56 p.m.
Gene added to the panel a listed as a candidate gene in Wong et al 2013 (PMID:23936318) who performed a gene network analysis using genes identified in CNVs in an earlier paper (Wong et al 2013 (PMID: 23108157)).
Created: 4 Aug 2018, 9:45 p.m.

Details

Sources
  • Literature
Phenotypes
  • anorectal malformation
OMIM
606233
Clinvar variants
Variants in PROK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Eleanor Williams: Gene added to the panel a list

14 Aug 2018, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: PROK1 were set to anorectal malformation

3 Aug 2018, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

PROK1 was added to Non-syndromic familial congenital anorectal malformations panel. Sources: Literature

3 Aug 2018, Gel status: 1

Created

Eleanor Williams (Genomics England Curator)

PROK1 was created by Eleanor Williams