SETD2 - Gene browser

SETD2

SET domain containing 2, histone lysine methyltransferase

HCNC Approved Symbol: SETD2 (HGNC:18420)
Genomic Coordinates: 3:47,016,436 - 47,164,840 (3p21.31)
Synonyms: HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

5Patients

In total, 5 patients were diagnosed with a variant in the SETD2 gene.

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

05
Patient count

Hypotonia: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Intellectual disability: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Macrocephaly: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Speech delay: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Abnormal facial shape: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)