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| Early onset or syndromic epilepsy v4.185 | WNK3 | Arina Puzriakova Tag gene-checked was removed from gene: WNK3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v4.185 | WNK3 | Arina Puzriakova Phenotypes for gene: WNK3 were changed from X-linked intellectual disability, MONDO:0100284 to Prieto syndrome, OMIM:309610; Intellectual disability, MONDO:0001071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.35 | WNK3 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: WNK3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.30 | WNK3 | Arina Puzriakova Tag Q3_22_rating was removed from gene: WNK3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.29 | WNK3 | Arina Puzriakova commented on gene: WNK3: The rating of this gene has been updated to Green and the mode of inheritance set to 'X-LINKED: hemizygous mutation in males, biallelic mutations in females' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.28 | WNK3 |
Arina Puzriakova Source Expert Review Green was added to WNK3. Source NHS GMS was added to WNK3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v2.543 | WNK3 | Arina Puzriakova changed review comment from: Comment on list classification: There is now enough evidence to promote this gene to Green at the next GMS review - at least 14 individuals from 6 unrelated families, all presenting with ID in association with variants in the WNK3 gene.; to: Comment on list classification: There is now enough evidence to promote this gene to Green at the next GMS review - at least 14 individuals from 6 unrelated families with variants in the WNK3 gene, of which at least 5 subjects (3 families) displayed seizures. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.543 | WNK3 | Arina Puzriakova Entity copied from Intellectual disability v3.1622 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.543 | WNK3 |
Arina Puzriakova gene: WNK3 was added gene: WNK3 was added to Genetic epilepsy syndromes. Sources: Expert Review Amber Q3_22_rating tags were added to gene: WNK3. Mode of inheritance for gene: WNK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: WNK3 were set to 26350204; 35678782 Phenotypes for gene: WNK3 were set to X-linked intellectual disability, MONDO:0100284 Penetrance for gene: WNK3 were set to Complete |
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