Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.
Please help improve GET-Evidence by evaluating evidence for this variant!
You are viewing an old version of this page that was saved on May 10, 2010 at 5:34pm by Madeleine Ball.
This variant is reported as to being seen frequently in individuals with recessive Hereditary pyropoikilocytosis.
Insufficiently evaluated pathogenic
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
Added in this revision:
Agre P, Asimos A, Casella JF, McMillan C. Inheritance pattern and clinical
response to splenectomy as a reflection of erythrocyte spectrin deficiency in
hereditary spherocytosis. N Engl J Med. 1986 Dec 18;315(25):1579-83. PubMed PMID:
Costa DB, Lozovatsky L, Gallagher PG, Forget BG. A novel splicing mutation of
the alpha-spectrin gene in the original hereditary pyropoikilocytosis kindred.
Blood. 2005 Dec 15;106(13):4367-9. Epub 2005 Sep 8. PubMed PMID: 16150946; PubMed
Central PMCID: PMC1895230.
hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr1:158624528