| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v1.4680 | RARG | Zornitza Stark Marked gene: RARG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4680 | RARG | Zornitza Stark Gene: rarg has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4680 | RARG |
Zornitza Stark changed review comment from: PMID 41830175 reports four affected members from a single family with a heterozygous truncating RARG variant (c.1237C>T, p.Arg413*) causing childhood‑onset urothelial keratinising squamous metaplasia (KDSM) and associated ectodermal features; the variant segregates in an autosomal‑dominant pattern and functional assays demonstrate dominant‑negative loss‑of‑function, but evidence is limited to one family. Sources: Literature; to: PMID 41830175 reports four affected members from a single family with a heterozygous truncating RARG variant (c.1237C>T, p.Arg413*) causing childhood‑onset urothelial keratinising squamous metaplasia (KDSM) and associated ectodermal features. The truncating variant does not destabilise the transcript or protein produced from this allele but instead predicts the loss of half of helix 12 of RARγ, leading to reduced responsiveness of the receptor to all-trans retinoic acid via a dominant negative mechanism. Mice heterozygous for the variant demonstrated upregulation of cytokeratin-10 in the bladder and ureteric epithelium consistent with keratinising squamous metaplasia of the urothelium. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4680 | RARG |
Zornitza Stark gene: RARG was added gene: RARG was added to Mendeliome. Sources: Literature Mode of inheritance for gene: RARG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RARG were set to 41830175 Phenotypes for gene: RARG were set to Ectodermal dysplasia syndrome, MONDO:0019287, RARG-related Review for gene: RARG was set to RED Added comment: PMID 41830175 reports four affected members from a single family with a heterozygous truncating RARG variant (c.1237C>T, p.Arg413*) causing childhood‑onset urothelial keratinising squamous metaplasia (KDSM) and associated ectodermal features; the variant segregates in an autosomal‑dominant pattern and functional assays demonstrate dominant‑negative loss‑of‑function, but evidence is limited to one family. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||