| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.182 | ARSB | Zornitza Stark Marked gene: ARSB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.182 | ARSB | Zornitza Stark Gene: arsb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.182 | ARSB | Zornitza Stark Phenotypes for gene: ARSB were changed from MUCOPOLYSACCHARIDOSIS TYPE 6 to Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200; MONDO:0009661 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.181 | ARSB | Zornitza Stark Publications for gene: ARSB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.180 | ARSB |
Zornitza Stark changed review comment from: Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal. Well established gene-disease association.; to: Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal. Well established gene-disease association. Perinatal presentation is uncommon but reported with oedema and skeletal changes. |
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| Fetal anomalies v0.180 | ARSB | Zornitza Stark edited their review of gene: ARSB: Changed publications: 11668612, 1301949 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ARSB |
Zornitza Stark gene: ARSB was added gene: ARSB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARSB were set to MUCOPOLYSACCHARIDOSIS TYPE 6 |
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