Non-syndromic familial congenital anorectal malformations

Gene: AMOTL1

Red List (low evidence)

AMOTL1 (angiomotin like 1)
EnsemblGeneIds (GRCh38): ENSG00000166025
EnsemblGeneIds (GRCh37): ENSG00000166025
OMIM: 614657, Gene2Phenotype
AMOTL1 is in 1 panel

1 review

Eleanor Williams (Genomics England Curator)

Comment on phenotypes: Added phenotype from publication PMID:23936318
Created: 14 Aug 2018, 3:34 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.

Details

Sources
  • Literature
Phenotypes
  • anorectal malformation
OMIM
614657
Clinvar variants
Variants in AMOTL1
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: AMOTL1 were set to anorectal malformation

3 Aug 2018, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

AMOTL1 was added to Non-syndromic familial congenital anorectal malformations panel. Sources: Literature

3 Aug 2018, Gel status: 1

Created

Eleanor Williams (Genomics England Curator)

AMOTL1 was created by Eleanor Williams