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Fetal anomalies v0.1716 | COX10 | Zornitza Stark Marked gene: COX10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1716 | COX10 | Zornitza Stark Gene: cox10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1716 | COX10 | Zornitza Stark Phenotypes for gene: COX10 were changed from LEIGH SYNDROME; MITOCHONDRIAL COMPLEX IV DEFICIENCY to Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1715 | COX10 | Zornitza Stark Publications for gene: COX10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1714 | COX10 | Zornitza Stark Classified gene: COX10 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1714 | COX10 | Zornitza Stark Gene: cox10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1713 | COX10 |
Zornitza Stark changed review comment from: More than 5 unrelated families reported, mitochondrial encephalopathy including developmental delay in some, though early severe multi-system disease or regression are the typical patterns of neurological involvement.; to: More than 5 unrelated families reported, mitochondrial encephalopathy including developmental delay in some, though early severe multi-system disease or regression are the typical patterns of neurological involvement. At least one individual reported with severe HCM in neonatal period. |
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Fetal anomalies v0.1713 | COX10 | Zornitza Stark edited their review of gene: COX10: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.0 | COX10 |
Zornitza Stark gene: COX10 was added gene: COX10 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX10 were set to LEIGH SYNDROME; MITOCHONDRIAL COMPLEX IV DEFICIENCY |