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Fetal anomalies v6.167 SHROOM4 Arina Puzriakova Tag gene-checked tag was added to gene: SHROOM4.
Fetal anomalies v6.167 SHROOM4 Arina Puzriakova Phenotypes for gene: SHROOM4 were changed from Abnormal corpus callosum; congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems; Stocco dos Santos X-linked mental retardation syndrome, 300434 to Abnormal corpus callosum; congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems
Fetal anomalies v6.166 SHROOM4 Arina Puzriakova Publications for gene: SHROOM4 were set to 36379543; 32565546
Fetal anomalies v6.152 SHROOM4 Arina Puzriakova Added phenotypes congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems for gene: SHROOM4
Fetal anomalies v6.150 SHROOM4 Arina Puzriakova edited their review of gene: SHROOM4: Changed rating: GREEN
Fetal anomalies v6.149 SHROOM4 Arina Puzriakova commented on gene: SHROOM4: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.148 SHROOM4 Arina Puzriakova commented on gene: SHROOM4: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. 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, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.147 SHROOM4 Vicki Harrison reviewed gene: SHROOM4: Rating: GREEN; Mode of pathogenicity: ; Publications: 40905141, 36379543, 32565546; Phenotypes: congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.143 SHROOM4 Arina Puzriakova Source Expert Review Green was added to SHROOM4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v5.16 SHROOM4 Achchuthan Shanmugasundram commented on gene: SHROOM4
Fetal anomalies v5.15 SHROOM4 Stephanie Allen reviewed gene: SHROOM4: Rating: RED; Mode of pathogenicity: ; Publications: 32565546, 36379543; Phenotypes: Abnormal corpus callosum; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v5.13 SHROOM4 Achchuthan Shanmugasundram 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
Fetal anomalies v1.179 SHROOM4 Arina Puzriakova Classified gene: SHROOM4 as Red List (low evidence)
Fetal anomalies v1.179 SHROOM4 Arina Puzriakova Added comment: 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.
Fetal anomalies v1.179 SHROOM4 Arina Puzriakova Gene: shroom4 has been classified as Red List (Low Evidence).
Fetal anomalies v1.178 SHROOM4 Arina Puzriakova Phenotypes for gene: SHROOM4 were changed from HP:0001274 to Stocco dos Santos X-linked mental retardation syndrome, 300434
Fetal anomalies v1.73 SHROOM4 Suzanne Drury 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
Added comment: 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