Activity
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| Fetal anomalies v8.26 | ARSK | Ida Ertmanska commented on gene: ARSK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.25 | ARSK | Esther Kinning reviewed gene: ARSK: Rating: GREEN; Mode of pathogenicity: ; Publications: 35959767, 34916232, 38292179; Phenotypes: Mucopolysaccharidosis, type X, OMIM:619698, mucopolysaccharidosis, type 10, MONDO:0030524; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.23 | ARSK |
Ida Ertmanska gene: ARSK was added gene: ARSK was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ARSK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARSK were set to 35959767; 34916232; 38292179 Phenotypes for gene: ARSK were set to Mucopolysaccharidosis, type X, OMIM:619698; mucopolysaccharidosis, type 10, MONDO:0030524 |
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| Fetal anomalies v0.1 | FGD1 |
Rebecca Foulger gene: FGD1 was added gene: FGD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FGD1 were set to AARSKOG-SCOTT SYNDROME |
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