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| Angelman Rett like syndromes v1.7 | HECTD4 | Zornitza Stark Phenotypes for gene: HECTD4 were changed from Neurodevelopmental disorder, MONDO:0700092, HECTD4-related to Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, MIM# 620250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v1.6 | HECTD4 | Zornitza Stark edited their review of gene: HECTD4: Changed phenotypes: Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, MIM# 620250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v1.6 | HECTD4 | Zornitza Stark Marked gene: HECTD4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v1.6 | HECTD4 | Zornitza Stark Gene: hectd4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v1.6 | HECTD4 | Zornitza Stark Classified gene: HECTD4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v1.6 | HECTD4 | Zornitza Stark Gene: hectd4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v1.5 | HECTD4 |
Zornitza Stark gene: HECTD4 was added gene: HECTD4 was added to Angelman Rett like syndromes. Sources: Literature Mode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HECTD4 were set to Neurodevelopmental disorder, MONDO:0700092, HECTD4-related Review for gene: HECTD4 was set to GREEN Added comment: 7 patients/5 families with syndromic neurodevelopmental, seizure, and movement disorders and neurobehavioral phenotypes. WES found bi-allelic variants in HECTD4. The RNA studies in some patients with LoF variants provided evidence for the LoF effect. Sources: Literature |
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