SMC1A - Gene browser

SMC1A

structural maintenance of chromosomes 1A

HCNC Approved Symbol: SMC1A (HGNC:11111)
Genomic Coordinates: 23:53,374,149 - 53,422,728 (Xp11.22)
Synonyms: DXS423E, KIAA0178, SB1.8, Smcb, SMC1L1
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

18Patients

In total, 18 patients were diagnosed with a variant in the SMC1A gene.

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

018
Patient count

Global developmental delay: 6 (33.3%)
Patient Count: 6 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
6 (33.3%)
Intellectual disability: 6 (33.3%)
Patient Count: 6 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
6 (33.3%)
Synophrys: 5 (27.8%)
Patient Count: 5 (27.8%)
% of total patients presenting each phenotype is shown in parentheses.
5 (27.8%)
Microcephaly: 4 (22.2%)
Patient Count: 4 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
4 (22.2%)
Delayed development: 3 (16.7%)
Patient Count: 3 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
3 (16.7%)