Activity
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3 actions
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| Fetal anomalies v8.26 | SSR4 | Ida Ertmanska commented on gene: SSR4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.25 | SSR4 | Natalie Chandler reviewed gene: SSR4: Rating: GREEN; Mode of pathogenicity: ; Publications: 41441028, 38805916; Phenotypes: SSR4-congenital disorder of glycosylation, MONDO:0010490, Congenital disorder of glycosylation, type Iy, OMIM:300934; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.23 | SSR4 |
Ida Ertmanska gene: SSR4 was added gene: SSR4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SSR4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SSR4 were set to 41441028; 38805916 Phenotypes for gene: SSR4 were set to SSR4-congenital disorder of glycosylation, MONDO:0010490; Congenital disorder of glycosylation, type Iy, OMIM:300934 |
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