SETD1A - Gene browser

SETD1A

SET domain containing 1A, histone lysine methyltransferase

HCNC Approved Symbol: SETD1A (HGNC:29010)
Genomic Coordinates: 16:30,957,754 - 30,984,664 (16p11.2)
Synonyms: KIAA0339, Set1, KMT2F, SET1A
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

9Patients

In total, 9 patients were diagnosed with a variant in the SETD1A gene.

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

09
Patient count

Intellectual disability: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Epilepsy: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Facial dysmorphism: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Global developmental delay: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Abnormal facial shape: 1 (11.1%)
Patient Count: 1 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (11.1%)