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PIGV

phosphatidylinositol glycan anchor biosynthesis class V

HCNC Approved Symbol
PIGV (HGNC:26031)
Genomic Coordinates
1:26,787,054 - 26,800,659 (1p36.11)
Synonyms
FLJ20477, PIG-V, GPI-MT-II
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

5Patients

In total, 5 patients were diagnosed with a variant in the PIGV gene.

Frequently observed phenotypes

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

Global developmental delay
 3 (60.0%)
Seizures
 3 (60.0%)
Hemangioma
 2 (40.0%)
Hydronephrosis
 2 (40.0%)
Hypertelorism
 2 (40.0%)
PIGV - Gene browser | 3billion