ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

  • 13q31.3-q32.1
  • GRCh37/hg19 chr13: 93,879,061-95,060,274
  • View: NCBI | Ensembl | UCSC
  • GRCh38/hg38 chr13: 93,226,808-94,408,020
  • View: NCBI | Ensembl | UCSC
Select assembly: (NC_000013.10) (NC_000013.11)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: OMODYSPLASIA 1; OMOD1

Haploinsufficiency phenotype comments:

Appears to be linked only to autosomal recessive omodysplasia (OMIM #258315) with compound heterozygous or homozygous mutations resulting in absence of a functional protein.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
Evidence for triplosensitivity phenotype
PubMed ID Description
19941983 van der Zwaag (2010): Describes a larger (5.5 Mb) duplication including GPC6 and 10 others. Paper suggests that GPC6 and/or GPC5 may represent the critical duplicated gene(s) for the postaxial polydactyly type A2 phenotype(PAP-A2; OMIM 602085).

Triplosensitivity phenotype comment:

No focal duplications in the literature for interpretation of significance. See van der Zwaag et al (2010) for description of larger duplication.