MAB21L1 Chromosome 13
Mab-21 like 1
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What This Gene Does
This gene is similar to the MAB-21 cell fate-determining gene found in C. elegans. It may be involved in eye and cerebellum development, and it has been proposed that expansion of a trinucleotide repeat region in the 5' UTR may play a role in a variety of psychiatric disorders. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
MAB21 family
Locus Type
gene with protein product
Location
13q13.3
Ensembl
ENSG00000180660
Associated Conditions (5)
Hypoplasia of scrotum
Cerebellar
ocular
craniofacial
and genital syndrome
Key Variants
RS1594757530
Likely pathogenic
Hypoplasia of scrotum, Hypoplasia of scrotum
Health Risk
RS1566188475
Pathogenic
Cerebellar, ocular, craniofacial
Health Risk
RS1566188524
Pathogenic
Cerebellar, ocular, craniofacial
Health Risk
RS1566188537
Pathogenic
Cerebellar, ocular, craniofacial
Health Risk
RS1566188955
Pathogenic
Cerebellar, ocular, craniofacial
Health Risk
RS1566189161
Pathogenic
Cerebellar, ocular, craniofacial
Health Risk
RS2549594379
Pathogenic
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1594757530 | Health Risk | Likely pathogenic | Hypoplasia of scrotum, Hypoplasia of scrotum |
| RS1566188475 | Health Risk | Pathogenic | Cerebellar, ocular, craniofacial |
| RS1566188524 | Health Risk | Pathogenic | Cerebellar, ocular, craniofacial |
| RS1566188537 | Health Risk | Pathogenic | Cerebellar, ocular, craniofacial |
| RS1566188955 | Health Risk | Pathogenic | Cerebellar, ocular, craniofacial |
| RS1566189161 | Health Risk | Pathogenic | Cerebellar, ocular, craniofacial |
| RS2549594379 | Health Risk | Pathogenic | — |