Intestinal failure or congenital diarrhoeaGene: WNT2B
This gene has been confirmed for this panel by the NHS Genomic Medicine Service and should be rated green.
Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.
Panel Version: 1.48
Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a relevant phenotype in OMIM and not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 12 Apr 2021, 11:59 a.m. | Last Modified: 12 Apr 2021, 11:59 a.m.
Panel Version: 1.28
Comment on publications: PMID: 33526876 reports an additional unrelated case. Patient is of Haitian descent (previous cases described in PMID:29909964 are of Vietnamese and Kuwaiti origins). Patient has neonatal onset diarrhoea with metabolic acidosis and failure to thrive. Patient also has bilateral microcornea and corneal clouding. Patient also presented with ambiguous genitalia and diagnosed with 46,XX testicular DSD.
The authors reviewed the clinical findings of the previous patients they had reported on (PMID:29909964) and found that the Kuwaiti patients had bilateral microcornea, corneal neovascularization and thick corneas (I-2), and bilateral iridocorneal adhesions, congenital cataract, and iris coloboma (I-3). The gonadal findings in the Haitian patient was not seen in any of the other affected patients.
Created: 12 Apr 2021, 11:58 a.m. | Last Modified: 12 Apr 2021, 11:58 a.m.
Panel Version: 1.27
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. Three probands from two unrelated families and functional data suggesting severe intestinal dysregulation due to decreased intestinal stem cell number and function.
Sources: Expert Review
Created: 4 Jan 2021, 11:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Diarrhoea 9, MIM# 618168
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: WNT2B.
Source Expert Review Green was added to WNT2B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: wnt2b has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: WNT2B.
Publications for gene: WNT2B were set to 29909964
Phenotypes for gene: WNT2B were changed from Diarrhoea 9, MIM# 618168 to Diarrhoea 9, OMIM:618168
gene: WNT2B was added gene: WNT2B was added to Intestinal failure. Sources: Expert Review Mode of inheritance for gene: WNT2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WNT2B were set to 29909964 Phenotypes for gene: WNT2B were set to Diarrhoea 9, MIM# 618168 Review for gene: WNT2B was set to GREEN gene: WNT2B was marked as current diagnostic