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PLEKHM1

pleckstrin homology and RUN domain containing M1

HCNC Approved Symbol
PLEKHM1 (HGNC:29017)
Genomic Coordinates
17:45,434,209 - 45,490,721 (17q21.31)
Synonyms
KIAA0356
Disease Associations
This gene is associated with the following 2 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
?Osteopetrosis, autosomal recessive 6
611497AR
Osteopetrosis, autosomal dominant 3
618107AD

Diagnosed Cases

0Patient

There are no patients diagnosed with a variant in the PLEKHM1 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

No Results