Activity
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9 actions
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| Fetal anomalies v0.0 | ACAN |
Zornitza Stark gene: ACAN was added gene: ACAN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ACAN were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE; SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY |
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| Fetal anomalies v0.0 | ACADVL |
Zornitza Stark gene: ACADVL was added gene: ACADVL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADVL were set to VERY LONG CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY |
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| Fetal anomalies v0.0 | ACAD9 |
Zornitza Stark gene: ACAD9 was added gene: ACAD9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACAD9 were set to 26475292 Phenotypes for gene: ACAD9 were set to ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY |
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| Fetal anomalies v0.0 | ABHD5 |
Zornitza Stark gene: ABHD5 was added gene: ABHD5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABHD5 were set to CHANARIN-DORFMAN SYNDROME |
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| Fetal anomalies v0.0 | ABCC9 |
Zornitza Stark gene: ABCC9 was added gene: ABCC9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ABCC9 were set to CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA |
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| Fetal anomalies v0.0 | ABCC6 |
Zornitza Stark gene: ABCC6 was added gene: ABCC6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCC6 were set to ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 |
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| Fetal anomalies v0.0 | ABCA12 |
Zornitza Stark gene: ABCA12 was added gene: ABCA12 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCA12 were set to Ichthyosis, congenital, autosomal recessive 242500 |
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| Fetal anomalies v0.0 | AAAS |
Zornitza Stark gene: AAAS was added gene: AAAS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AAAS were set to Triple-A syndrome, MONDO:0009279; Achalasia-addisonianism-alacrimia syndrome, OMIM:231550 |
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| Fetal anomalies v0.0 | Zornitza Stark Added panel Fetal anomalies | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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