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  3. DESI2
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Non-syndromic familial congenital anorectal malformations

Gene: DESI2

Red List (low evidence)
DESI2 (desumoylating isopeptidase 2)
EnsemblGeneIds (GRCh38): ENSG00000121644
EnsemblGeneIds (GRCh37): ENSG00000121644
OMIM: 614638, Gene2Phenotype
DESI2 is in 1 panel

1 review

Eleanor Williams (Genomics England Curator)

Comment on phenotypes: Added phenotype from publication PMID:23936318
Created: 14 Aug 2018, 3:36 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, 9:32 p.m.
Created: 4 Aug 2018, 9:32 p.m.

Panel version: 0.4

Details

Sources
  • Literature
Phenotypes
  • anorectal malformation
OMIM
614638
Clinvar variants
Variants in DESI2
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: DESI2 were set to anorectal malformation

3 Aug 2018, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

DESI2 was added to Non-syndromic familial congenital anorectal malformations panel. Sources: Literature

3 Aug 2018, Gel status: 1

Created

Eleanor Williams (Genomics England Curator)

DESI2 was created by Eleanor Williams