Congenital Diarrhoea
Gene: WNT2BEnsemblGeneIds (GRCh38): ENSG00000134245
EnsemblGeneIds (GRCh37): ENSG00000134245
OMIM: 601968, Gene2Phenotype
WNT2B is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Diarrhoea-9 is a form of neonatal-onset chronic diarrhoea characterized by an osmotic diarrhoea that is not substrate specific, abnormal crypt and villus architecture, and significant fat malabsorption.
Two unrelated families and functional data suggesting severe intestinal dysregulation due to decreased intestinal stem cell number and function.Created: 4 Jan 2021, 11:46 p.m. | Last Modified: 4 Jan 2021, 11:46 p.m.
Panel Version: 0.38
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Diarrhoea 9, MIM# 618168
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Diarrhoea 9, MIM# 618168
- OMIM
- 601968
- Clinvar variants
- Variants in WNT2B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wnt2b has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: WNT2B were changed from to Diarrhoea 9, MIM# 618168
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: WNT2B were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: WNT2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: WNT2B was added gene: WNT2B was added to Congenital Diarrhoea_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: WNT2B was set to Unknown