No conclusive evidence for haploinsufficiency for this gene. Describes a familial deletion, measuring approximately 8?Mb from 71,236,891 to 76,093,303 (hg18, including GALR1) , which was transmitted from a mother to two daughters. The deletion was associated with remarkable phenotypic variability (PMID: 22302430). Describes a putative critical interval of approximately 2.3 Mb, including the genes ZNF407, ZADH2, SDCCAG33, ZNF516, FLJ44881, ZNF236, MBP-Golli, and GALR1, associated with the congenital aural atresia phenotype observed in 18q deletion syndrome patients (PMID: 16639285)
No literature identified