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| Malformations of cortical development v4.26 | WNK3 | Arina Puzriakova Phenotypes for gene: WNK3 were changed from Intellectual disability, MONDO:0001071 to Prieto syndrome, OMIM:309610; Intellectual disability, MONDO:0001071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v4.25 | WNK3 | Arina Puzriakova Tag gene-checked was removed from gene: WNK3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v3.11 | WNK3 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: WNK3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.146 | WNK3 | Arina Puzriakova Classified gene: WNK3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.146 | WNK3 | Arina Puzriakova Added comment: Comment on list classification: Brain phenotypes in cases reported to date are varied and non-specific. Therefore, rating Amber with a watchlist tag to allow monitoring for future cases which may indicate whether brain malformations are a prominent features of this disorder. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.146 | WNK3 | Arina Puzriakova Gene: wnk3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.145 | WNK3 |
Arina Puzriakova gene: WNK3 was added gene: WNK3 was added to Malformations of cortical development. Sources: Literature watchlist 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 35678782 Phenotypes for gene: WNK3 were set to Intellectual disability, MONDO:0001071 Added comment: Kury et al. 2022 (PMID: 35678782) reported 14 males from 6 unrelated families with hemizygous variants (3 LOF and 3 missense, predicted pathogenic) in the WNK3 gene. All (14/14) had DD/ID and variable other associations including seizures (5/13), mild microcephaly (6/13, ranging -2 to -2.4 SD) and structural brain malformations (7/10). Heterozygous mothers were all asymptomatic. Brain imaging in 4 families that had anomalies showed F1) polymicrogyria in two sibs, F2) mild cerebral atrophy and bilateral periventricular white matter hypersignal, F3) three patients with subcortical cerebral atrophy, dilation of lateral ventricles, and F4) symmetric T2 prolongation involving the deep gray structures, central tegmental tracts and dentate nuclei. Sources: Literature |
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