PLA2G6 - Gene browser

PLA2G6

phospholipase A2 group VI

HCNC Approved Symbol: PLA2G6 (HGNC:9039)
Genomic Coordinates: 22:38,111,495 - 38,181,830 (22q13.1)
Synonyms: iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

22Patients

In total, 22 patients were diagnosed with a variant in the PLA2G6 gene.

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

022
Patient count

Global developmental delay: 6 (27.3%)
Patient Count: 6 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
6 (27.3%)
Cerebellar atrophy: 6 (27.3%)
Patient Count: 6 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
6 (27.3%)
Developmental regression: 5 (22.7%)
Patient Count: 5 (22.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (22.7%)
Neurodevelopmental regression: 5 (22.7%)
Patient Count: 5 (22.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (22.7%)
Nystagmus: 5 (22.7%)
Patient Count: 5 (22.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (22.7%)