PNPLA6 - Gene browser

PNPLA6

patatin like phospholipase domain containing 6

HCNC Approved Symbol: PNPLA6 (HGNC:16268)
Genomic Coordinates: 19:7,534,164 - 7,561,767 (19p13.2)
Synonyms: NTE, sws, iPLA2delta, SPG39
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

Diagnosed Cases

10Patients

In total, 10 patients were diagnosed with a variant in the PNPLA6 gene.

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

010
Patient count

Gait disturbance: 3 (30.0%)
Patient Count: 3 (30.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (30.0%)
Ataxia: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Behavioral abnormality: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Brain atrophy: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Cataract: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)