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| Disorders of sex development v2.46 | WNT2B |
Ivone Leong gene: WNT2B was added gene: WNT2B was added to Disorders of sex development. Sources: Literature Mode of inheritance for gene: WNT2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WNT2B were set to 29909964; 33526876 Phenotypes for gene: WNT2B were set to Diarrhoea 9, OMIM:618168; 46,XX testicular disorder of sex development, MONDO:0100249 Review for gene: WNT2B was set to RED Added comment: This gene is associated with a phenotype in OMIM but not Gene2Phenotype. This gene is also present on the Intestinal failure panel (Version 1.28). Review submitted by Zornitza Stark on the Intestinal failure panel: "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. Borderline Green/Amber. Sources: Expert Review Zornitza Stark (Australian Genomics), 4 Jan 2021" 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. As there is only 1 case, this gene has been added as Red on this panel. Sources: Literature |
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