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 6:30pm by Madeleine Ball.
This variant, also called alpha-IIa, has been 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
Maillet P, Alloisio N, Morlé L, Delaunay J. Spectrin mutations in hereditary
elliptocytosis and hereditary spherocytosis. Hum Mutat. 1996;8(2):97-107. PubMed
They mention the allele alpha-LEPRA as also implicated in hereditary spherocytosis, a C>T substitution at position -99 of intron 30. They say this is linked in cis to the alpha-IIs (A970D) substitution.
Edited in this revision:
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.
This variant is noted to be linked to alpha-LEPRA and is seen frequently in individuals with recessive Hereditary pyropoikilocytosis.
hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr1:158624528