Activity
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| Early onset or syndromic epilepsy v9.73 | WDR4 | Ida Ertmanska Classified gene: WDR4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.73 | WDR4 | Ida Ertmanska Added comment: Comment on list classification: As reviewed by Luke Stuart, there are now 2 unrelated probands reported in literature with biallelic variants in WDR4 and early-onset seizures. Hence, this gene should be rated Amber, until more evidence emerges. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.73 | WDR4 | Ida Ertmanska Gene: wdr4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.72 | WDR4 |
Luke Stuart changed review comment from: PMID 26416026 (Shaheen et al., 2015): Two patients from presumed unrelated, but geographically linked, consanguineous Egyptian families were homozygous for WDR4 c.509G>T (p.Arg170Leu). Both presented with severe prenatal and postnatal growth restriction, severe microcephaly, profound developmental impairment, early-onset epilepsy (seizure onset at 10 months and 4 months), hypertonia/spasticity, optic atrophy, and distinctive facial dysmorphism. Functional studies demonstrated that the variant impairs WDR4 function, resulting in reduced tRNA m7G46 methylation. Kim et al., 2020 (Case report, journal of Genetic Medicine, 10.5734/jgm.2020.17.2.97): Trio WES identified compound heterozygous WDR4 variants (c.540C>G (p.Ile180Met) and c.494G>A (p.Arg165Gln)) in a patient presenting with seizure, delayed development, and microcephaly at referral. Both variants were classified VUS- rare in Gnomad v4 (0 homozygotes) with equivocal REVEL scores favouring benignity. Other reports of WDR4-related disease have not described epilepsy, reporting phenotypes consistent with Galloway-Mowat syndrome 6 (OMIM: 618347): PMID 28617965 (Trimouille et al., 2018): Two sisters with compound heterozygous WDR4 variants (c.509G>A; p.Arg170Gln and c.911_927dup; p.Gln310GlyfsTer30) presented with severe microcephaly, growth retardation, and severe intellectual disability, without seizures or epilepsy. PMID 29597095 (Chen et al., 2018): A patient with compound heterozygous WDR4 variants (c.491A>C; p.Asp164Ala and c.940dupC; p.Leu314ProfsTer16) had speech and language delay, without a history of seizures or epilepsy. PMID 30079490 (Braun et al., 2018): Four siblings homozygous for WDR4 c.454-2A>C presented with microcephaly, developmental delay, and, in most cases, nephrotic syndrome consistent with Galloway-Mowat syndrome; none had seizures or epilepsy. Evidence linking WDR4 to an epilepsy/seizure phenotype (OMIM #618346, MIGSB) rests on a single publication (Shaheen et al. 2015, PMID 26416026) describing two patients from linked consanguineous families with one shared homozygous variant. An amber recommendation for early onset or syndromic epilepsy is recommended. Sources: Literature; to: PMID 26416026 (Shaheen et al., 2015): Two patients from presumed unrelated, but geographically linked, consanguineous Egyptian families were homozygous for WDR4 c.509G>T (p.Arg170Leu). Both presented with severe prenatal and postnatal growth restriction, severe microcephaly, profound developmental impairment, early-onset epilepsy (seizure onset at 10 months and 4 months), hypertonia/spasticity, optic atrophy, and distinctive facial dysmorphism. Functional studies demonstrated that the variant impairs WDR4 function, resulting in reduced tRNA m7G46 methylation. Kim et al., 2020 (Case report, journal of Genetic Medicine, 10.5734/jgm.2020.17.2.97): Trio WES identified compound heterozygous WDR4 variants (c.540C>G (p.Ile180Met) and c.494G>A (p.Arg165Gln)) in a patient presenting with seizure, delayed development, and microcephaly at referral. Both variants were classified VUS- rare in Gnomad v4 (0 homozygotes) with equivocal REVEL scores favouring benignity. Other reports of WDR4-related disease have not described epilepsy, reporting phenotypes consistent with Galloway-Mowat syndrome 6 (OMIM: 618347): PMID 28617965 (Trimouille et al., 2018): Two sisters with compound heterozygous WDR4 variants (c.509G>A; p.Arg170Gln and c.911_927dup; p.Gln310GlyfsTer30) presented with severe microcephaly, growth retardation, and severe intellectual disability, without seizures or epilepsy. PMID 29597095 (Chen et al., 2018): A patient with compound heterozygous WDR4 variants (c.491A>C; p.Asp164Ala and c.940dupC; p.Leu314ProfsTer16) had speech and language delay, without a history of seizures or epilepsy. PMID 30079490 (Braun et al., 2018): Four siblings homozygous for WDR4 c.454-2A>C presented with microcephaly, developmental delay, and, in most cases, nephrotic syndrome consistent with Galloway-Mowat syndrome; none had seizures or epilepsy. In summary, an epilepsy/seizure phenotype is described in two reports of WDR4-related disease, one comprising two patients from linked consanguineous families with one shared homozygous variant (Shaheen et al. 2015, PMID 26416026). An amber recommendation for early onset or syndromic epilepsy is recommended. Sources: Literature |
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| Early onset or syndromic epilepsy v9.72 | WDR4 |
Luke Stuart changed review comment from: PMID 26416026 (Shaheen et al., 2015): Two patients from presumed unrelated, but geographically linked, consanguineous Egyptian families were homozygous for WDR4 c.509G>T (p.Arg170Leu). Both presented with severe prenatal and postnatal growth restriction, severe microcephaly, profound developmental impairment, early-onset epilepsy (seizure onset at 10 months and 4 months), hypertonia/spasticity, optic atrophy, and distinctive facial dysmorphism. Functional studies demonstrated that the variant impairs WDR4 function, resulting in reduced tRNA m7G46 methylation. Subsequent reports of WDR4-related disease have not described epilepsy, reporting phenotypes consistent with Galloway-Mowat syndrome 6 (OMIM: 618347): PMID 28617965 (Trimouille et al., 2018): Two sisters with compound heterozygous WDR4 variants (c.509G>A; p.Arg170Gln and c.911_927dup; p.Gln310GlyfsTer30) presented with severe microcephaly, growth retardation, and severe intellectual disability, without seizures or epilepsy. PMID 29597095 (Chen et al., 2018): A patient with compound heterozygous WDR4 variants (c.491A>C; p.Asp164Ala and c.940dupC; p.Leu314ProfsTer16) had speech and language delay, without a history of seizures or epilepsy. PMID 30079490 (Braun et al., 2018): Four siblings homozygous for WDR4 c.454-2A>C presented with microcephaly, developmental delay, and, in most cases, nephrotic syndrome consistent with Galloway-Mowat syndrome; none had seizures or epilepsy. Evidence linking WDR4 to an epilepsy/seizure phenotype (OMIM #618346, MIGSB) rests on a single publication (Shaheen et al. 2015, PMID 26416026) describing two patients from linked consanguineous families with one shared homozygous variant. An amber recommendation for early onset or syndromic epilepsy is recommended. Sources: Literature; to: PMID 26416026 (Shaheen et al., 2015): Two patients from presumed unrelated, but geographically linked, consanguineous Egyptian families were homozygous for WDR4 c.509G>T (p.Arg170Leu). Both presented with severe prenatal and postnatal growth restriction, severe microcephaly, profound developmental impairment, early-onset epilepsy (seizure onset at 10 months and 4 months), hypertonia/spasticity, optic atrophy, and distinctive facial dysmorphism. Functional studies demonstrated that the variant impairs WDR4 function, resulting in reduced tRNA m7G46 methylation. Kim et al., 2020 (Case report, journal of Genetic Medicine, 10.5734/jgm.2020.17.2.97): Trio WES identified compound heterozygous WDR4 variants (c.540C>G (p.Ile180Met) and c.494G>A (p.Arg165Gln)) in a patient presenting with seizure, delayed development, and microcephaly at referral. Both variants were classified VUS- rare in Gnomad v4 (0 homozygotes) with equivocal REVEL scores favouring benignity. Other reports of WDR4-related disease have not described epilepsy, reporting phenotypes consistent with Galloway-Mowat syndrome 6 (OMIM: 618347): PMID 28617965 (Trimouille et al., 2018): Two sisters with compound heterozygous WDR4 variants (c.509G>A; p.Arg170Gln and c.911_927dup; p.Gln310GlyfsTer30) presented with severe microcephaly, growth retardation, and severe intellectual disability, without seizures or epilepsy. PMID 29597095 (Chen et al., 2018): A patient with compound heterozygous WDR4 variants (c.491A>C; p.Asp164Ala and c.940dupC; p.Leu314ProfsTer16) had speech and language delay, without a history of seizures or epilepsy. PMID 30079490 (Braun et al., 2018): Four siblings homozygous for WDR4 c.454-2A>C presented with microcephaly, developmental delay, and, in most cases, nephrotic syndrome consistent with Galloway-Mowat syndrome; none had seizures or epilepsy. Evidence linking WDR4 to an epilepsy/seizure phenotype (OMIM #618346, MIGSB) rests on a single publication (Shaheen et al. 2015, PMID 26416026) describing two patients from linked consanguineous families with one shared homozygous variant. An amber recommendation for early onset or syndromic epilepsy is recommended. Sources: Literature |
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| Early onset or syndromic epilepsy v9.72 | WDR4 |
Luke Stuart gene: WDR4 was added gene: WDR4 was added to Early onset or syndromic epilepsy. Sources: Literature Mode of inheritance for gene: WDR4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR4 were set to 26416026; 28617965; 29597095; 30079490 Phenotypes for gene: WDR4 were set to Microcephaly, growth deficiency, seizures, and brain malformations, OMIM:618346; Galloway-Mowat syndrome 6, OMIM:618347 Review for gene: WDR4 was set to AMBER Added comment: PMID 26416026 (Shaheen et al., 2015): Two patients from presumed unrelated, but geographically linked, consanguineous Egyptian families were homozygous for WDR4 c.509G>T (p.Arg170Leu). Both presented with severe prenatal and postnatal growth restriction, severe microcephaly, profound developmental impairment, early-onset epilepsy (seizure onset at 10 months and 4 months), hypertonia/spasticity, optic atrophy, and distinctive facial dysmorphism. Functional studies demonstrated that the variant impairs WDR4 function, resulting in reduced tRNA m7G46 methylation. Subsequent reports of WDR4-related disease have not described epilepsy, reporting phenotypes consistent with Galloway-Mowat syndrome 6 (OMIM: 618347): PMID 28617965 (Trimouille et al., 2018): Two sisters with compound heterozygous WDR4 variants (c.509G>A; p.Arg170Gln and c.911_927dup; p.Gln310GlyfsTer30) presented with severe microcephaly, growth retardation, and severe intellectual disability, without seizures or epilepsy. PMID 29597095 (Chen et al., 2018): A patient with compound heterozygous WDR4 variants (c.491A>C; p.Asp164Ala and c.940dupC; p.Leu314ProfsTer16) had speech and language delay, without a history of seizures or epilepsy. PMID 30079490 (Braun et al., 2018): Four siblings homozygous for WDR4 c.454-2A>C presented with microcephaly, developmental delay, and, in most cases, nephrotic syndrome consistent with Galloway-Mowat syndrome; none had seizures or epilepsy. Evidence linking WDR4 to an epilepsy/seizure phenotype (OMIM #618346, MIGSB) rests on a single publication (Shaheen et al. 2015, PMID 26416026) describing two patients from linked consanguineous families with one shared homozygous variant. An amber recommendation for early onset or syndromic epilepsy is recommended. Sources: Literature |
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| Early onset or syndromic epilepsy v8.139 | WDR47 | Arina Puzriakova Tag Q1_25_ promote_green was removed from gene: WDR47. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.134 | WDR47 | Achchuthan Shanmugasundram commented on gene: WDR47: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.134 | WDR47 |
Arina Puzriakova Source NHS GMS was added to WDR47. Source Expert Review Green was added to WDR47. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v8.79 | WDR47 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: WDR47. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.23 | WDR47 | Achchuthan Shanmugasundram Classified gene: WDR47 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.23 | WDR47 | Achchuthan Shanmugasundram Gene: wdr47 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.22 | WDR47 | Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: WDR47. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.22 | WDR47 |
Achchuthan Shanmugasundram changed review comment from: PMID:39609633 reported seven patients from five unrelated families with either homozygous or compound heterozygous variants in WDR47 gene. They all presented with a complex neurodevelopmental syndrome comprising corpus callosum dysgenesis, microcephaly, intellectual disability and epilepsy. Profound intellectual disability was present in four of five reported families. This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature; to: PMID:39609633 reported seven patients from five unrelated families with either homozygous or compound heterozygous variants in WDR47 gene. They all presented with a complex neurodevelopmental syndrome comprising corpus callosum dysgenesis, microcephaly, intellectual disability and epilepsy. Seizures were present in all five reported families. This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature |
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| Early onset or syndromic epilepsy v7.22 | WDR47 | Achchuthan Shanmugasundram Publications for gene: WDR47 were set to 39609633 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.21 | WDR47 | Achchuthan Shanmugasundram Phenotypes for gene: WDR47 were changed from neuronevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; epilepsy, MONDO:0005027 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.20 | WDR47 | Achchuthan Shanmugasundram edited their review of gene: WDR47: Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092, epilepsy, MONDO:0005027 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.20 | WDR47 |
Achchuthan Shanmugasundram gene: WDR47 was added gene: WDR47 was added to Early onset or syndromic epilepsy. Sources: Literature Mode of inheritance for gene: WDR47 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR47 were set to 39609633 Phenotypes for gene: WDR47 were set to neuronevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 Review for gene: WDR47 was set to GREEN Added comment: PMID:39609633 reported seven patients from five unrelated families with either homozygous or compound heterozygous variants in WDR47 gene. They all presented with a complex neurodevelopmental syndrome comprising corpus callosum dysgenesis, microcephaly, intellectual disability and epilepsy. Profound intellectual disability was present in four of five reported families. This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature |
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| Early onset or syndromic epilepsy v2.491 | WDR45B | Sarah Leigh Tag for-review was removed from gene: WDR45B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.491 | WDR45B | Sarah Leigh commented on gene: WDR45B: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.490 | WDR45B |
Sarah Leigh Source Expert Review Green was added to WDR45B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v2.407 | WDR45B | Arina Puzriakova Phenotypes for gene: WDR45B were changed from Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977; profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations to Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.60 | WDR45B | Rebecca Foulger commented on gene: WDR45B: Added 'for-review' tag based on Zornitza's Green review on a gene where an Amber rating was decided at the last GLH review. Of the publications listed, PMID:28503735 (Suleiman et al) report 3 families (2 with seizures). PMID:21937992. Najmabadi et al 2011 identify WDR45B (WDR45L) as a candidate gene for ID. PMID:27431290 (Anazi et al., 2017) identified likely pathogenic alleles in WDR45B in ID individuals. Little information provided about WDR45B phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.60 | WDR45B | Rebecca Foulger Tag for-review tag was added to gene: WDR45B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.60 | WDR45B | Rebecca Foulger Publications for gene: WDR45B were set to 21937992; 28503735 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | WDR45B | Zornitza Stark reviewed gene: WDR45B: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 28503735, 27431290; Phenotypes: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.494 | WDR45 | Rebecca Foulger Phenotypes for gene: WDR45 were changed from to Neurodegeneration with brain iron accumulation 5, 300894 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.493 | WDR45 | Rebecca Foulger Publications for gene: WDR45 were set to Saitsu et al (2013) Nat Genet. 45(4):445-9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.228 | WDR45B | Rebecca Foulger Marked gene: WDR45B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.228 | WDR45B | Rebecca Foulger Gene: wdr45b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.228 | WDR45B | Rebecca Foulger Classified gene: WDR45B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.228 | WDR45B | Rebecca Foulger Gene: wdr45b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.227 | WDR45B | Rebecca Foulger commented on gene: WDR45B: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is insufficient evidence to rate this gene Green, and an Amber rating is appropriate. Demoted from Green to Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.227 | WDR45B | Rebecca Foulger commented on gene: WDR45B: Re-reviewed this gene when curating panel for GMS Clinical Indication R59 Early onset or syndromic epilepsy. In summary, the evidence is borderline: PMID:28503735 (Suleiman et al) report 6 individuals from 3 families with homozygous pathogenic variants in WDR45B, and 2 of the families (5 indivs) had seizures- seizures were not reported in the sole individual from family 3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.191 | WDR45B | Rebecca Foulger Source Wessex and West Midlands GLH was added to WDR45B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.191 | WDR45 | Rebecca Foulger Source Wessex and West Midlands GLH was added to WDR45. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.190 | WDR45B | Rebecca Foulger Source NHS GMS was added to WDR45B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.190 | WDR45 | Rebecca Foulger Source NHS GMS was added to WDR45. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.189 | WDR45B | Rebecca Foulger edited their review of gene: WDR45B: Added comment: Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Amber. ; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.189 | WDR45 | Rebecca Foulger reviewed gene: WDR45: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.188 | WDR45B | Tracy Lester reviewed gene: WDR45B: Rating: AMBER; Mode of pathogenicity: ; Publications: 28503735; Phenotypes: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.188 | WDR45 | Tracy Lester reviewed gene: WDR45: Rating: GREEN; Mode of pathogenicity: ; Publications: 23176820; Phenotypes: Neurodegeneration with brain iron accumulation, 300894; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.145 | WDR45B | Rebecca Foulger Phenotypes for gene: WDR45B were changed from profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations to Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977; profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||