ClinGen Dosage Sensitivity Curation Page

GAGE2B

  • Curation Status: Complete

Location Information

  • Xp11.23
  • GRCh37/hg19 chrX: 49,235,708-49,242,997
  • View: NCBI | Ensembl | UCSC

GRCh37/hg19 chrX: 49,235,708-49,242,997 (NC_000023.10)

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

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.

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

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.