SLC52A2 - Gene browser

SLC52A2

solute carrier family 52 member 2

HCNC Approved Symbol: SLC52A2 (HGNC:30224)
Genomic Coordinates: 8:144,358,552 - 144,361,272 (8q24.3)
Synonyms: FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3, RFT3, HuPAR-1, GPR172A
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the SLC52A2 gene.

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

01
Patient count

Claw hand: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Distal muscle atrophy, lower limbs: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Hypothenar hypoplasia: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Hypotonia: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Motor axonal neuropathy: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)