PCYT1A

PCYT1A

phosphate cytidylyltransferase 1A, choline

HCNC Approved Symbol: PCYT1A (HGNC:8754)
Genomic Coordinates: 3:196,234,368 - 196,287,726 (3q29)
Synonyms: CT, CTPCT, CCTalpha, PCYT1
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the PCYT1A gene.

Frequently observed phenotypes(Top 5 only)

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

02
Patient count

Cone rod dystrophy: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Mucopolysacchariduria: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Spondylometaphyseal dysplasia: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)

Last updated: 2024-06-30