ClinGen Dosage Sensitivity Curation Page

HYLS1

  • Curation Status: Complete

Location Information

  • 11q24.2
  • GRCh37/hg19 chr11: 125,753,509-125,770,541
  • View: NCBI | Ensembl | UCSC
  • GRCh38/hg38 chr11: 125,883,614-125,900,646
  • View: NCBI | Ensembl | UCSC
Select assembly: (NC_000011.9) (NC_000011.10)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: HYDROLETHALUS SYNDROME 1; HLS1
  • Triplosensitivity score: Not yet evaluated
  • Strength of Evidence (disclaimer): Not yet evaluated