Activity
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10 actions
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| Fetal anomalies v0.2476 | YWHAG | Zornitza Stark Marked gene: YWHAG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2476 | YWHAG | Zornitza Stark Gene: ywhag has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2476 | YWHAG | Zornitza Stark Phenotypes for gene: YWHAG were changed from Early-Onset Epilepsy to Developmental and epileptic encephalopathy 56, (MIMI#617665) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2475 | YWHAG | Zornitza Stark Publications for gene: YWHAG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2474 | YWHAG | Zornitza Stark Mode of inheritance for gene: YWHAG was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2473 | YWHAG | Zornitza Stark Classified gene: YWHAG as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2473 | YWHAG | Zornitza Stark Gene: ywhag has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2472 | YWHAG |
Zornitza Stark changed review comment from: Developmental and epileptic encephalopathy-56 (DEE56) is a neurodevelopmental disorder characterized by early-onset seizures in most patients, followed by impaired intellectual development, variable behavioral abnormalities, and sometimes additional neurologic features, such as ataxia. PMID: 33393734 8x patients all de novo missense. Patient cohort shared with PMID: 31926053 7/8 have mild-mod ID 6/8 have seizures PMID: 33767733 1x de novo missense and 1x nonsense familial with 6 affecteds. All patients from this study have febrile seizures but normal intelligence and motor development. PMID: 33590706 1x de novo. mild ID and generalized tonic–clonic seizures; to: Developmental and epileptic encephalopathy-56 (DEE56) is a neurodevelopmental disorder characterized by early-onset seizures in most patients, followed by impaired intellectual development, variable behavioral abnormalities, and sometimes additional neurologic features, such as ataxia. PMID: 33393734 8x patients all de novo missense. Patient cohort shared with PMID: 31926053 7/8 have mild-mod ID 6/8 have seizures PMID: 33767733 1x de novo missense and 1x nonsense familial with 6 affecteds. All patients from this study have febrile seizures but normal intelligence and motor development. PMID: 33590706 1x de novo. mild ID and generalized tonic–clonic seizures Onset in first year of life. |
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| Fetal anomalies v0.2472 | YWHAG | Zornitza Stark edited their review of gene: YWHAG: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | YWHAG |
Zornitza Stark gene: YWHAG was added gene: YWHAG was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: YWHAG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: YWHAG were set to Early-Onset Epilepsy |
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