IndraLab

"Today, autosomal dominant CSNB (adCSNB) is only associated with Riggs phenotype driven by RHO (OMIM: 180380; Dryja, Berson, Rao, & Oprian, xref ), GNAT1 (OMIM: 139330; Dryja, Hahn, Reboul, & Arnaud, xref ), or PDE6B (OMIM: 180072; Gal, Orth, Baehr, Schwinger, & Rosenberg, xref ); X‐linked CSNB (xlCSNB) is associated with NYX (OMIM: 300278; Bech‐Hansen et al., xref ; Pusch et al., xref ) and CACNA1F (OMIM: 300110; Bech‐Hansen et al., xref ; Strom et al., xref ); autosomal recessive CSNB (arCSNB) could be complete, incomplete or Riggs‐type, which may be caused by GRM6 (OMIM: 604096; Dryja et al., xref ; Zeitz et al., xref ), TRPM1 (OMIM: 603576; Audo et al., xref ; Li et al., xref ; van Genderen et al., xref ), GPR179 (OMIM: 614515; Audo et al., xref ; Peachey et al., xref ), LRIT3 (OMIM: 615004; Zeitz et al., xref ), CABP4 (OMIM: 608965; Zeitz et al., xref ), CACNA2D4 (OMIM: 608171; Wycisk, Budde, et al., xref ; Wycisk, Zeitz, et al., xref ), SLC24A1 (OMIM: 603617)(Riazuddin et al., xref ), or GNAT1 (OMIM: 139330)(Naeem et al., xref )."