Activity
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| Fetal anomalies v6.152 | WSB2 | Arina Puzriakova Added phenotypes neurodevelopmental delay, dysmorphic features, brain structural abnormalities, growth restriction, hypotonia, microcephaly for gene: WSB2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.150 | WSB2 | Arina Puzriakova edited their review of gene: WSB2: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.149 | WSB2 | Arina Puzriakova commented on gene: WSB2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.148 | WSB2 | Arina Puzriakova commented on gene: WSB2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.147 | WSB2 | Natalie Chandler reviewed gene: WSB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40374945; Phenotypes: neurodevelopmental delay, dysmorphic features, brain structural abnormalities, growth restriction, hypotonia, microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.143 | WSB2 |
Arina Puzriakova Source Expert Review Green was added to WSB2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v6.132 | WSB2 | Achchuthan Shanmugasundram Classified gene: WSB2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.132 | WSB2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated patients reported with either IUGR or Oligohydramnios. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.132 | WSB2 | Achchuthan Shanmugasundram Gene: wsb2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.131 | WSB2 | Achchuthan Shanmugasundram Tag Q1_26_promote_green tag was added to gene: WSB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.131 | WSB2 |
Achchuthan Shanmugasundram gene: WSB2 was added gene: WSB2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: WSB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WSB2 were set to 40374945 Phenotypes for gene: WSB2 were set to neurodevelopmental disorder, MONDO:0700092 Review for gene: WSB2 was set to GREEN Added comment: PMID:40374945 reported five patients from four unrelated families with developmental delays, brain anomalies, and dysmorphic features with or without intrauterine growth restriction (IUGR) and hypotonia. They were all identified with homozygous predicted loss-of-function (pLoF) or missense variants in WSB2 gene (c.128G>A/ p.Trp43Ter, p.Gln134ArgfsTer14, c.1121G>A/ p.Arg374Gln & c.1187_1188delAA/ p.Lys396ArgfsTer19) inherited from asymptomatic consanguineous parents. Intrauterine growth restriction (IUGR) was reported in two unrelated patients and Oligohydramnios was reported in a different unrelated patient. There is also functional evidence available from Wsb2-mutant mice, which exhibited several neurological findings that included hyperactivity, altered exploration, and hyper alertness. They also weighed less, had a lower heart rate, and presented an abnormal retinal blood vessel morphology and vasculature pattern along with decreased total thickness of the retina. This gene has not been associated with relevant phenotypes either in OMIM, Gene2Phenotype or ClinGen. Sources: Literature |
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