SHH V13Shift - GET-Evidence

Curation:
Currentness:

SHH V13Shift

(SHH 13delVinsShift)


Short summary

Reported to cause holoprosencephaly in a dominant manner, causing facial and brain deformity. This comes from a ClinVar entry, where it is reported by GeneReviews (http://www.ncbi.nlm.nih.gov/clinvar/RCV000056099/).

Variant evidence
Computational 4

other variants in this gene cause this disease, this variant is expected to be highly disruptive

Functional -
Case/Control -
Familial

no familial data available

 
Clinical importance
Severity 5

severity can vary – sometimes lethal before birth, but sometimes milder

Treatability 1
Penetrance 5
 

Impact

High clinical importance, Uncertain pathogenic

(The "high clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

dominant

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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