ClinGen Dosage Sensitivity Curation Page

ALMS1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000002.11) (NC_000002.12)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype

Haploinsufficiency phenotype comments:

Variants in ALMS1 have been reported in association with Alstrom syndrome, an autosomal recessive condition. Furthermore, the overall evidence that ALMS1, when altered, causes Alstrom syndrome has been expert reviewed by the ClinGen Hearing Loss Working Group and classified as DEFINITIVE

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