Activity
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| Malformations of cortical development v3.11 | EML1 | Arina Puzriakova Tag Q3_21_rating was removed from gene: EML1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v3.11 | EML1 | Arina Puzriakova edited their review of gene: EML1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v3.10 | EML1 |
Arina Puzriakova Source Expert Review Green was added to EML1. Source NHS GMS was added to EML1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Malformations of cortical development v2.83 | EML1 | Arina Puzriakova Publications for gene: EML1 were set to 31710781 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.82 | EML1 | Arina Puzriakova Tag Q3_21_rating tag was added to gene: EML1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.82 | EML1 | Arina Puzriakova Classified gene: EML1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.82 | EML1 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). EML1 is associated with a relevant phenotype in OMIM (MIM# 600348) but is not yet listed in G2P. Animal models and sufficient number of unrelated cases (>3) with relevant phenotype (periventricular and ribbon-like subcortical heterotopia with polymicrogyria) and variants in this gene to rate as Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.82 | EML1 | Arina Puzriakova Gene: eml1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.81 | EML1 | Arina Puzriakova Phenotypes for gene: EML1 were changed from Band heterotopia (MIM# 600348) to Band heterotopia, OMIM:600348 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.11 | EML1 |
Zornitza Stark gene: EML1 was added gene: EML1 was added to Malformations of cortical development. Sources: Expert list Mode of inheritance for gene: EML1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EML1 were set to 31710781 Phenotypes for gene: EML1 were set to Band heterotopia (MIM# 600348) Review for gene: EML1 was set to GREEN gene: EML1 was marked as current diagnostic Added comment: PMID: 31710781; Review of 5 families with patients characterised by severe developmental delay, drug-resistant seizures and visual impairment. On brain imaging of 4 patients, there is megalencephaly with a characteristic ribbon-like subcortical heterotopia combined with partial or complete callosal agenesis and an overlying polymicrogyria-like cortical malformation. Sources: Expert list |
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