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| Early onset or syndromic epilepsy v5.6 | ESAM | Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.6 | ESAM | Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: ESAM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.6 | ESAM | Eleanor Williams reviewed gene: ESAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.5 | ESAM |
Achchuthan Shanmugasundram Source NHS GMS was added to ESAM. Source Expert Review Green was added to ESAM. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v4.99 | ESAM | Achchuthan Shanmugasundram Tag Q3_23_NHS_review was removed from gene: ESAM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v4.99 | ESAM | Achchuthan Shanmugasundram Entity copied from Intellectual disability - microarray and sequencing v5.284 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v4.99 | ESAM |
Achchuthan Shanmugasundram gene: ESAM was added gene: ESAM was added to Early onset or syndromic epilepsy. Sources: Expert Review Amber,Literature,Expert Review Q3_23_promote_green, Q3_23_NHS_review tags were added to gene: ESAM. Mode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESAM were set to 36996813 Phenotypes for gene: ESAM were set to Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371 |
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| Early onset or syndromic epilepsy v1.188 | KCNJ10 | Tracy Lester reviewed gene: KCNJ10: Rating: GREEN; Mode of pathogenicity: ; Publications: 19420365; Phenotypes: Enlarged vestibular aqueduct, digenic, 600791, SESAME syndrome 612780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||