ClinGen Dosage Sensitivity Curation Page

ZNF711

  • Curation Status: Complete

Location Information

Select assembly: (NC_000023.10) (NC_000023.11)
Evidence for haploinsufficiency phenotype
PubMed ID Description
19377476 Tarpey et al. (2009) sequenced all exons of the X chromosome in 208 families segregating X-linked mental retardation. Two unrelated families were identified as having truncating mutations in the ZNF711 gene. The two families with truncating ZNF711 mutations had moderate mental retardation without consistent additional distinctive features. No truncating variants were found in 41,200 controls.

Haploinsufficiency phenotype comments:

The two families described by Tarpey with truncating ZNF711 mutations had moderate mental retardation without consistent additional distinctive features. No demonstrable phenotype was observed in carrier females.

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

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.