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DDG2P

Gene: AXIN1

Red List (low evidence)

AXIN1 (axin 1)
EnsemblGeneIds (GRCh38): ENSG00000103126
EnsemblGeneIds (GRCh37): ENSG00000103126
OMIM: 603816, Gene2Phenotype
AXIN1 is in 2 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible. DDG2P mode of pathogenicity: cis-regulatory or promotor mutation imprinted MOI listed in DD-G2P download for CAUDAL DUPLICATION ANOMALY 607864. AXIN1 not currently on PanelApp list of imprinted genes, so no MOI uploaded.
Created: 19 Nov 2018, 11:29 a.m.

Details

Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • CAUDAL DUPLICATION ANOMALY 607864
OMIM
603816
Clinvar variants
Variants in AXIN1
Penetrance
None
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

gene: AXIN1 was added gene: AXIN1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: AXIN1 was set to Phenotypes for gene: AXIN1 were set to CAUDAL DUPLICATION ANOMALY 607864 Mode of pathogenicity for gene: AXIN1 was set to Other - please provide details in the comments