SHROOM4 Chromosome X
Shroom family member 4
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What This Gene Does
This gene encodes a member of the APX/Shroom family, which contain an N-terminal PDZ domain and a C-terminal ASD2 motif. The encoded protein may play a role in cytoskeletal architecture. Mutations in this gene have been linked to the X-linked Stocco dos Santos syndrome characterized by cognitive disabilities. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
"PDZ domain containing|Shroom family"
Locus Type
gene with protein product
Location
Xp11.22
Ensembl
ENSG00000158352
Associated Conditions (5)
Intellectual disability
See cases
X-linked intellectual disability
Stocco dos Santos type
SHROOM4-related disorder
Key Variants
RS1064796301
Conflicting classifications of pathogenicity
Health Risk
RS1428157543
Conflicting classifications of pathogenicity
Health Risk
RS148721221
Conflicting classifications of pathogenicity
Intellectual disability, Intellectual disability
Health Risk
RS149300669
Conflicting classifications of pathogenicity
Intellectual disability, See cases, Intellectual disability
Health Risk
RS151329289
Conflicting classifications of pathogenicity
Health Risk
RS189694750
Conflicting classifications of pathogenicity
X-linked intellectual disability, Stocco dos Santos type, SHROOM4-related disorder
Health Risk
RS199603614
Conflicting classifications of pathogenicity
Health Risk
RS201467037
Conflicting classifications of pathogenicity
X-linked intellectual disability, Stocco dos Santos type, X-linked intellectual disability
Health Risk
RS782099388
Conflicting classifications of pathogenicity
SHROOM4-related disorder, SHROOM4-related disorder
Health Risk
RS2147209054
Likely pathogenic
X-linked intellectual disability, Stocco dos Santos type, X-linked intellectual disability
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1064796301 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1428157543 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148721221 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Intellectual disability |
| RS149300669 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, See cases, Intellectual disability |
| RS151329289 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS189694750 | Health Risk | Conflicting classifications of pathogenicity | X-linked intellectual disability, Stocco dos Santos type, SHROOM4-related disorder |
| RS199603614 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201467037 | Health Risk | Conflicting classifications of pathogenicity | X-linked intellectual disability, Stocco dos Santos type, X-linked intellectual disability |
| RS782099388 | Health Risk | Conflicting classifications of pathogenicity | SHROOM4-related disorder, SHROOM4-related disorder |
| RS2147209054 | Health Risk | Likely pathogenic | X-linked intellectual disability, Stocco dos Santos type, X-linked intellectual disability |