PNPLA1 - Gene browser

PNPLA1

patatin like phospholipase domain containing 1

HCNC Approved Symbol: PNPLA1 (HGNC:21246)
Genomic Coordinates: 6:36,243,168 - 36,313,955 (6p21.31)
Synonyms: FLJ38755, dJ50J22.1
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

4Patients

In total, 4 patients were diagnosed with a variant in the PNPLA1 gene.

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

04
Patient count

Congenital ichthyosiform erythroderma: 4 (100.0%)
Patient Count: 4 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (100.0%)
Failure to thrive: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Feeding difficulty: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Patent foramen ovale: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Supernumerary nipple: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)