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| 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 |
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