ClinGen Dosage Sensitivity Curation Page
GALR1
- Curation Status: Complete
- id: ISCA-1667
- Date last evaluated: 2012-07-06
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about GALR1 at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/2587
- OMIM: https://omim.org/entry/600377
- ClinGen Haploinsufficiency Score: 0
- ClinGen Triplosensitivity Score: 0
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