SHROOM4
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SHROOM4 (HGNC:29215) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
shroom family member 4
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
KIAA1202, Shrm4, SHAP
%HI
44.15(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.23(Read more about gnomAD LOEUF score)
Cytoband
Xp11.22
Genomic Coordinates
GRCh37/hg19: chrX:50334642-50557194 NCBI Ensembl UCSC
GRCh38/hg38: chrX:50575534-50814194 NCBI Ensembl UCSC
MANE Select Transcript
NM_020717.5 ENST00000376020.9 (Read more about MANE Select)
Function
Probable regulator of cytoskeletal architecture that plays an important role in development. May regulate cellular and cytoskeletal architecture by modulating the spatial distribution of myosin II (By similarity). {ECO:0000250, ECO:0000269|PubMed:16684770}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-22060
ClinGen Curation ID:
CCID:007846
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
10/10/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
There have been no clear loss of function mutations or focal deletions reported for SHROOM4. Hagens et al. (2006, PMID:16249884) report two unrelated females who had intellectual disability, variable dysmorphic features, and other variable features who had apparently balanced X;autosome translocations that interrupted SHROOM4. However, both breakpoints within the autosomal regions either also disrupted a gene or were within a gene-rich region. Hagens also report a family with Stocco dos Santos XLMR syndrome (OMIM 300434) segregating with a missense mutation, but functional studies have not been done. The group also reported other sequence variants in patients with XLMR, some of which were also present in controls. Honda et al (2010, PMID: 20613765) report a male with moderate mental retardation and a 2.86 Mb deletion including SHROOM4 and many other genes.
NOTE:

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
NOTE:

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.

Genomic View

Select assembly: (NC_000023.10) (NC_000023.11)