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| Fetal anomalies v0.2823 | SLC45A1 | Zornitza Stark Marked gene: SLC45A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2823 | SLC45A1 | Zornitza Stark Gene: slc45a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2823 | SLC45A1 | Zornitza Stark Phenotypes for gene: SLC45A1 were changed from Intellectual disability and epilepsy to Intellectual developmental disorder with neuropsychiatric features, MIM# 617532 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2822 | SLC45A1 | Zornitza Stark Publications for gene: SLC45A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2821 | SLC45A1 | Zornitza Stark Classified gene: SLC45A1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2821 | SLC45A1 | Zornitza Stark Gene: slc45a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2820 | SLC45A1 |
Zornitza Stark changed review comment from: Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present. Two families reported and some functional data.; to: Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present. Two families reported and some functional data. Clinical presentation is typically post-natal. |
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| Fetal anomalies v0.2820 | SLC45A1 | Zornitza Stark edited their review of gene: SLC45A1: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC45A1 |
Zornitza Stark gene: SLC45A1 was added gene: SLC45A1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SLC45A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC45A1 were set to Intellectual disability and epilepsy |
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