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Fetal anomalies v1.324 | MYRF | Zornitza Stark Phenotypes for gene: MYRF were changed from Cardiac-urogenital syndrome, MIM# 618280 to Cardiac-urogenital syndrome, MIM# 618280; Nanophthalmos 1, MIM# 600165 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.323 | MYRF | Zornitza Stark Publications for gene: MYRF were set to 30985895; 30070761; 31069960; 29446546; 30532227 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.322 | MYRF | Zornitza Stark edited their review of gene: MYRF: Changed publications: 29446546, 29446546, 30532227, 31069960, 31266062 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.322 | MYRF |
Zornitza Stark changed review comment from: Cardiac-urogenital syndrome is characterized by partial anomalous pulmonary venous return in association with tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism. More than 10 unrelated individuals reported. Sources: Expert list; to: Cardiac-urogenital syndrome is characterized by partial anomalous pulmonary venous return in association with tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism. More than 10 unrelated individuals reported. Also note association with nanophthalmos, which may also be detectable on US. Sources: Expert list |
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Fetal anomalies v1.322 | MYRF | Zornitza Stark edited their review of gene: MYRF: Changed phenotypes: Cardiac-urogenital syndrome, MIM# 618280, Nanophthalmos 1, MIM# 600165 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.4229 | MYRF | Alison Yeung Marked gene: MYRF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.4229 | MYRF | Alison Yeung Gene: myrf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.4229 | MYRF | Alison Yeung Phenotypes for gene: MYRF were changed from Congenital diaphragmatic hernia (CDH); Cardiac-urogenital syndrome, 618280; Disorders of sex development (DSD) to Cardiac-urogenital syndrome, MIM# 618280 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.4228 | MYRF | Alison Yeung Mode of inheritance for gene: MYRF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.0 | MYRF |
Zornitza Stark gene: MYRF was added gene: MYRF was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYRF were set to 30985895; 30070761; 31069960; 29446546; 30532227 Phenotypes for gene: MYRF were set to Congenital diaphragmatic hernia (CDH); Cardiac-urogenital syndrome, 618280; Disorders of sex development (DSD) |