Non-syndromic familial congenital anorectal malformations

Gene: JAK2

Red List (low evidence)

JAK2 (Janus kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000096968
EnsemblGeneIds (GRCh37): ENSG00000096968
OMIM: 147796, Gene2Phenotype
JAK2 is in 5 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment on phenotypes: Added phenotype from publication PMID:23936318
Created: 14 Aug 2018, 3:53 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, 9:44 p.m.

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: JAK2 were set to anorectal malformation

3 Aug 2018, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

JAK2 was added to Non-syndromic familial congenital anorectal malformations panel. Sources: Literature

3 Aug 2018, Gel status: 1

Created

Eleanor Williams (Genomics England Curator)

JAK2 was created by Eleanor Williams