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  3. SHROOM4
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Fetal anomalies

Gene: SHROOM4

Red List (low evidence)
SHROOM4 (shroom family member 4)
EnsemblGeneIds (GRCh38): ENSG00000158352
EnsemblGeneIds (GRCh37): ENSG00000158352
OMIM: 300579, Gene2Phenotype
SHROOM4 is in 2 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

Red List (low evidence)

Green on Australian fetal anomalies panel. Not green on any UK panels, gene-disease association disputed. Not enough evidence give in papers listed and can't find any further papers.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

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

Phenotypes
Abnormal corpus callosum

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Suzanne Drury. Rating Red as currently only a single case with a fetally-relevant phenotype (PMID: 32565546). Additional unrelated cases required to support this gene-disease association.
Created: 21 Jan 2021, 4 p.m. | Last Modified: 21 Jan 2021, 4 p.m.
Panel Version: 1.179
Created: 21 Jan 2021, 4 p.m.
Last Modified: 21 Jan 2021, 4 p.m.
Panel version: 1.179

Suzanne Drury (Congenica Ltd)

I don't know

Reported in fetal case series of abnormal corpus callosum PMID:32565546. Case also had Blake's pouch cyst, Turner syndrome: mos46,X, psu idic(X)(p11.2)[19/45,X[6]
Sources: Literature
Created: 24 Jun 2020, 12:43 p.m.

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

Phenotypes
HP:0001274

Publications

Created: 24 Jun 2020, 12:43 p.m.

Panel version: 1.73

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Stocco dos Santos X-linked mental retardation syndrome, 300434
  • Abnormal corpus callosum
OMIM
300579
Clinvar variants
Variants in SHROOM4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 1

Added New Source, Set Phenotypes, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to SHROOM4. Added phenotypes Abnormal corpus callosum for gene: SHROOM4 Publications for gene: SHROOM4 were updated from 32565546 to 36379543; 32565546

21 Jan 2021, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: shroom4 has been classified as Red List (Low Evidence).

21 Jan 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SHROOM4 were changed from HP:0001274 to Stocco dos Santos X-linked mental retardation syndrome, 300434

24 Jun 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Suzanne Drury (Congenica Ltd)

gene: SHROOM4 was added gene: SHROOM4 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SHROOM4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SHROOM4 were set to 32565546 Phenotypes for gene: SHROOM4 were set to HP:0001274 Review for gene: SHROOM4 was set to AMBER