SPEN - Gene browser

SPEN

spen family transcriptional repressor

HCNC Approved Symbol: SPEN (HGNC:17575)
Genomic Coordinates: 1:15,847,707 - 15,940,456 (1p36.21-p36.13)
Synonyms: KIAA0929, MINT, SHARP, RBM15C
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

6Patients

In total, 6 patients were diagnosed with a variant in the SPEN gene.

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

06
Patient count

Global developmental delay: 4 (66.7%)
Patient Count: 4 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
4 (66.7%)
Microcephaly: 3 (50.0%)
Patient Count: 3 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (50.0%)
Intellectual disability: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Optic atrophy: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Autism spectrum disorder: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)