ClinGen Dosage Sensitivity Curation Page

GALR1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000018.9) (NC_000018.10)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

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)

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Triplosensitivity phenotype comment:

No literature identified