PAFAH1B1 - Gene browser

PAFAH1B1

platelet activating factor acetylhydrolase 1b regulatory subunit 1

HCNC Approved Symbol: PAFAH1B1 (HGNC:8574)
Genomic Coordinates: 17:2,593,183 - 2,685,615 (17p13.3)
Synonyms: LIS1, PAFAH, NudF, MDCR, MDS
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

12Patients

In total, 12 patients were diagnosed with a variant in the PAFAH1B1 gene.

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

012
Patient count

Lissencephaly: 6 (50.0%)
Patient Count: 6 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (50.0%)
Global developmental delay: 4 (33.3%)
Patient Count: 4 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
4 (33.3%)
Pachygyria: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)
Hypsarrhythmia by eeg: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)
Epilepsy: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)