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SETD1B

SET domain containing 1B, histone lysine methyltransferase

HCNC Approved Symbol
SETD1B (HGNC:29187)
Genomic Coordinates
12:121,790,155 - 121,832,656 (12q24.31)
Synonyms
KIAA1076, Set1B, KMT2G
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

9Patients

In total, 9 patients were diagnosed with a variant in the SETD1B gene.

Frequently observed phenotypes

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

Speech delay
 3 (33.3%)
Epilepsy
 3 (33.3%)
Global development delay
 2 (22.2%)
Seizures
 2 (22.2%)
Learning difficulties
 2 (22.2%)
SETD1B - Gene browser | 3billion