ClinGen Dosage Sensitivity Curation Page

SIL1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000005.9) (NC_000005.10)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: MARINESCO-SJOGREN SYNDROME; MSS

Haploinsufficiency phenotype comments:

Per OMIM, biallelic variants in SIL1 have been reported in individuals with Marinesco-Sjogren syndrome (MIM:248800).

  • Triplosensitivity score: Not yet evaluated
  • Strength of Evidence (disclaimer): Not yet evaluated