LNPK - Gene browser | 3billion

LNPK

LNPK

lunapark, ER junction formation factor

HCNC Approved Symbol: LNPK (HGNC:21610)
Genomic Coordinates: 2:175,923,882 - 176,002,820 (2q31.1)
Synonyms: Ul, LNP1, LNP, KIAA1715
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the LNPK gene.

Frequently observed phenotypes(Top 5 only)

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

01
Patient count

Eeg abnormality: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Hypotonia: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Psychomotor delay: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30

LNPK - Gene browser | 3billion