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Fetal anomalies v0.603 | COX7B | Zornitza Stark Marked gene: COX7B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.603 | COX7B | Zornitza Stark Gene: cox7b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.603 | COX7B | Zornitza Stark Phenotypes for gene: COX7B were changed from MICROPHTHALMIA WITH LINEAR SKIN LESIONS to Linear skin defects with multiple congenital anomalies 2, MIM#300887 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.602 | COX7B | Zornitza Stark Publications for gene: COX7B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.601 | COX7B | Zornitza Stark changed review comment from: Single report of 4 affected individuals in 2012, of whom only two had dev delay/ID.; to: Single report of 4 affected individuals in 2012, multiple congenital anomalies. XLD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.601 | COX7B | Zornitza Stark edited their review of gene: COX7B: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.601 | COX7B | Zornitza Stark edited their review of gene: COX7B: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.0 | COX7B |
Zornitza Stark gene: COX7B was added gene: COX7B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: COX7B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: COX7B were set to MICROPHTHALMIA WITH LINEAR SKIN LESIONS |