ClinGen Dosage Sensitivity Curation Page

SRY

  • Curation Status: Complete

Location Information

Select assembly: (NC_000024.9) (NC_000024.10)
Evidence for haploinsufficiency phenotype
PubMed ID Description
1639410 McElreavey et al. (1992) identified a de novo C-to-T transition at nucleotide 687 in the SRY gene in an XY sex-reversed female with pure gonadal dysgenesis. This mutation changed a glutamine codon (CAG) to a termination codon (TAG) in the putative DNA-binding motif.
1339396 Hawkins et al. (1992) identified a de novo 1-basepair deletion (734A) of the SRY gene in a patient with complete gonadal dysgenesis and a 46,XY karyotype. The mutation causes a frameshift.
7987333 Iida et al. (1994) identified a G-to-A transition in the SRY gene in an XY sex-reversed female. This mutation changed a tryptophan codon to a termination codon (W107X).

Haploinsufficiency phenotype comments:

Loss of function mutations in SRY cause 46,XY sex reversal

The ratings for loss-of-function and triplosensitivity for genes on the Y chromosome are made in the same fashion as for genes linked to autosomal dominant disorders.

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

The ratings for loss-of-function and triplosensitivity for genes on the Y chromosome are made in the same fashion as for genes linked to autosomal dominant disorders.