Activity
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11 actions
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| Intellectual disability v9.329 | EPB41L3 | Ida Ertmanska Tag gene-checked tag was added to gene: EPB41L3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.299 | EPB41L3 |
Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: EPB41L3. Tag Q2_25_ NHS_review was removed from gene: EPB41L3. |
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| Intellectual disability v9.299 | EPB41L3 | Arina Puzriakova commented on gene: EPB41L3: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.298 | EPB41L3 |
Arina Puzriakova Source NHS GMS was added to EPB41L3. Source Expert Review Green was added to EPB41L3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v9.6 | EPB41L3 | Arina Puzriakova Classified gene: EPB41L3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.6 | EPB41L3 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.6 | EPB41L3 | Arina Puzriakova Gene: epb41l3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.5 | EPB41L3 |
Arina Puzriakova Tag Q2_25_ promote_green tag was added to gene: EPB41L3. Tag Q2_25_ NHS_review tag was added to gene: EPB41L3. |
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| Intellectual disability v9.5 | EPB41L3 | Arina Puzriakova reviewed gene: EPB41L3: Rating: GREEN; Mode of pathogenicity: None; Publications: 39292993; Phenotypes: Developmental disorder with seizures and myelination defects; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.5 | EPB41L3 | Arina Puzriakova Phenotypes for gene: EPB41L3 were changed from developmental delay; intellectual disability; seizures; hypotonia; neuroregression to Developmental disorder with seizures and myelination defects | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.243 | EPB41L3 |
Julia Baptista gene: EPB41L3 was added gene: EPB41L3 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: EPB41L3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPB41L3 were set to 39292993 Phenotypes for gene: EPB41L3 were set to developmental delay; intellectual disability; seizures; hypotonia; neuroregression Review for gene: EPB41L3 was set to GREEN Added comment: Six individuals from five unrelated families with global developmental delay, intellectual disability, seizures, hypotonia, neuroregression and delayed myelination. Exome sequencing identified biallelic variants in EPB41L3 in all affected individuals: two nonsense [c.466C>T, p.(R156*); c.2776C>T, p.(R926*)] and three frameshift [c.666delT, p.(F222Lfs*46); c.2289dupC, p.(V764Rfs*19); c.948_949delTG, p.(A317Kfs*33)]. Sources: Literature |
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