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Early onset or syndromic epilepsy v8.189 WSB2 Ida Ertmanska Added comment: Comment on phenotypes: Phenotype updated 22nd Apr 2026.
Early onset or syndromic epilepsy v8.189 WSB2 Ida Ertmanska Phenotypes for gene: WSB2 were changed from neurodevelopmental disorder, MONDO:0700092 to Luo-Agrawal neurodevelopmental syndrome, OMIM:621552; neurodevelopmental disorder, MONDO:0700092
Early onset or syndromic epilepsy v8.163 WSB2 Arina Puzriakova Tag gene-checked tag was added to gene: WSB2.
Early onset or syndromic epilepsy v8.88 WSB2 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are three unrelated patients reported with seizures and with biallelic WSB2 variants. In addition, there is also functional evidence available in support of the association of this gene with the neurodevelopmental disorder. Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: There are three unrelated patients reported with seizures and with biallelic WSB2 variants. In addition, there is also functional evidence available in support of the association of this gene with the neurodevelopmental disorder. Hence, this gene can be promoted to green rating in the next GMS update.
Early onset or syndromic epilepsy v8.88 WSB2 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are three unrelated patients reported with seizures and with biallelic WSB2 variants. However, only one of two patients from the same family was reported with seizures. Hence, this gene should be rated amber with the current evidence.; to: Comment on list classification: There are three unrelated patients reported with seizures and with biallelic WSB2 variants. In addition, there is also functional evidence available in support of the association of this gene with the neurodevelopmental disorder. Hence, this gene can be promoted to green rating in the next GMS update.
Early onset or syndromic epilepsy v8.88 WSB2 Achchuthan Shanmugasundram edited their review of gene: WSB2: Changed rating: GREEN
Early onset or syndromic epilepsy v8.88 WSB2 Achchuthan Shanmugasundram edited their review of gene: WSB2: Changed rating: RED
Early onset or syndromic epilepsy v8.88 WSB2 Achchuthan Shanmugasundram changed review comment from: 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.

Seizures were reported in three of five patients including one of two patients from the Ashkenazi Jew family. One of the patients is now free of seizures and not on medication, while the other two patients responded to treatments.

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; to: 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.

Seizures were reported in three of five patients including one of two patients from the Ashkenazi Jew family (child without seizures is aged 9 years old, while the onset of seizure on the other child was at 10 years of age). One of the patients is now free of seizures and not on medication, while the other two patients responded to treatments.

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
Early onset or syndromic epilepsy v8.88 WSB2 Achchuthan Shanmugasundram Tag watchlist was removed from gene: WSB2.
Tag Q1_26_promote_green tag was added to gene: WSB2.
Early onset or syndromic epilepsy v8.81 WSB2 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are three unrelated patients reported with seizures and with biallelic WSB2 variants. However, only one of two patients from the same family was reported with seizures. Hence, this gene should be rated amber with the current evidence.; to: Comment on list classification: There are three unrelated patients reported with seizures and with biallelic WSB2 variants. However, only one of two patients from the same family was reported with seizures. Hence, this gene should be rated amber with the current evidence.
Early onset or syndromic epilepsy v8.81 WSB2 Achchuthan Shanmugasundram Tag watchlist tag was added to gene: WSB2.
Early onset or syndromic epilepsy v8.81 WSB2 Achchuthan Shanmugasundram Classified gene: WSB2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v8.81 WSB2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated patients reported with seizures and with biallelic WSB2 variants. However, only one of two patients from the same family was reported with seizures. Hence, this gene should be rated amber with the current evidence.
Early onset or syndromic epilepsy v8.81 WSB2 Achchuthan Shanmugasundram Gene: wsb2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v8.80 WSB2 Achchuthan Shanmugasundram gene: WSB2 was added
gene: WSB2 was added to Early onset or syndromic epilepsy. 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 AMBER
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.

Seizures were reported in three of five patients including one of two patients from the Ashkenazi Jew family. One of the patients is now free of seizures and not on medication, while the other two patients responded to treatments.

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