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| Angelman Rett like syndromes v0.55 | EEF1A2 |
Zornitza Stark changed review comment from: Epileptic-dyskinetic encephalopathy with both neurodevelopmental and neurodegenerative features, microcephaly reported. Diagnosis made in Rett-like patient, PMID 31893083. Both LoF and GoF postulated.; to: Epileptic-dyskinetic encephalopathy with both neurodevelopmental and neurodegenerative features, microcephaly reported. Diagnosis made in Rett-like patient, PMID 31893083. Both LoF and GoF postulated. More than 20 unrelated families. |
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| Angelman Rett like syndromes v0.55 | EEF1A2 | Zornitza Stark Marked gene: EEF1A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v0.55 | EEF1A2 | Zornitza Stark Gene: eef1a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v0.55 | EEF1A2 | Zornitza Stark Phenotypes for gene: EEF1A2 were changed from to Mental retardation, autosomal dominant 38, MIM# 616393; MONDO:0014617; Developmental and epileptic encephalopathy 33, MIM# 616409; MONDO:0014625 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v0.54 | EEF1A2 | Zornitza Stark Publications for gene: EEF1A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v0.53 | EEF1A2 | Zornitza Stark Mode of inheritance for gene: EEF1A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v0.52 | EEF1A2 | Zornitza Stark edited their review of gene: EEF1A2: Changed phenotypes: Mental retardation, autosomal dominant 38, MIM# 616393, MONDO:0014617, Developmental and epileptic encephalopathy 33, MIM# 616409, MONDO:0014625 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v0.52 | EEF1A2 | Zornitza Stark reviewed gene: EEF1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24697219, 32196822, 32160274, 32062104, 31893083; Phenotypes: Mental retardation, autosomal dominant 38, MIM# 616393, Developmental and epileptic encephalopathy 33, MIM# 616409; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v0.0 | EEF1A2 |
Zornitza Stark gene: EEF1A2 was added gene: EEF1A2 was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EEF1A2 was set to Unknown |
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