Craniosynostosis

Gene: AXIN2

Red List (low evidence)

AXIN2 (axin 2)
EnsemblGeneIds (GRCh38): ENSG00000168646
EnsemblGeneIds (GRCh37): ENSG00000168646
OMIM: 604025, Gene2Phenotype
AXIN2 is in 1 panel

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Yilmaz et al 2018 reported heterozygous frameshift variant NM_004655.3;c.1045_1046delCT, p.L349fs*24 in 3 year old patient with sagittal craniosynostosis. ; Review on behalf of GOSH/Tracy Lester
Created: 5 Mar 2019, 11:33 a.m.

Phenotypes
Oligodontia-colorectal cancer syndrome, 604025

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: AXIN2; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.

Details

Sources
  • NHS GMS
Phenotypes
  • Oligodontia-colorectal cancer syndrome 604025
OMIM
604025
Clinvar variants
Variants in AXIN2
Penetrance
None
Panels with this gene

History Filter Activity

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Oligodontia-colorectal cancer syndrome 604025 for gene: AXIN2

5 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: AXIN2 was added gene: AXIN2 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: AXIN2 was set to