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| Mendeliome v1.404 | ARNT2 | Bryony Thompson Marked gene: ARNT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.404 | ARNT2 | Bryony Thompson Gene: arnt2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.404 | ARNT2 | Bryony Thompson Classified gene: ARNT2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.404 | ARNT2 | Bryony Thompson Gene: arnt2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.403 | ARNT2 |
Bryony Thompson gene: ARNT2 was added gene: ARNT2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ARNT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARNT2 were set to 11381139; 24022475 Phenotypes for gene: ARNT2 were set to Webb-Dattani syndrome MONDO:0014404 Review for gene: ARNT2 was set to AMBER Added comment: A homozygous frameshift (c.1373_1374dupTC) in six affected children from a highly consanguineous family with a syndromic phenotype including microcephaly with fronto-temporal lobe hypoplasia, multiple pituitary hormone deficiency, seizures, severe visual impairment and abnormalities of the kidneys and urinary tract. In a Arnt2(-/-) mouse model embryos die perinatally and exhibit impaired hypothalamic development. Sources: Literature |
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