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Intellectual disability

Gene: SHROOM4

Amber List (moderate evidence)

SHROOM4 (shroom family member 4)
EnsemblGeneIds (GRCh38): ENSG00000158352
EnsemblGeneIds (GRCh37): ENSG00000158352
OMIM: 300579, Gene2Phenotype
SHROOM4 is in 1 panel

4 reviews

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as amber as not enough evidence to mark as green
Created: 5 Jan 2018, 12:07 p.m.

Louise Daugherty (Genomics England Curator)

I don't know

One large 4 generation family and 1 unrelated patient have been reported to date with Stocco dos Santos X-linked mental retardation syndrome PMID:16249884 and 26740508.
Created: 18 Dec 2017, 3:39 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Stocco dos Santos X-linked mental retardation syndrome, 300434; Intellectual disability

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Stocco dos Santos X-linked mental retardation syndrome, 300434
  • Intellectual disability
OMIM
300579
Clinvar variants
Variants in SHROOM4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to SHROOM4.

16 May 2018, Gel status: 2

Clear Sources

Louise Daugherty (Genomics England Curator)

SHROOM4 Source: Expert Review Red was removed from gene: SHROOM4

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

5 Jan 2018, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene SHROOM4 was set to ['12673656', '16249884', '26740508', '20613765']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

SHROOM4 was added to Intellectual disabilitypanel. Source: Expert Review Red Model of inheritance for gene SHROOM4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females

24 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SHROOM4 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SHROOM4 was added to Intellectual disabilitypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SHROOM4 was added to Intellectual disabilitypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen