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Genetic Epilepsy v0.2496 MECP2 Zornitza Stark Marked gene: MECP2 as ready
Genetic Epilepsy v0.2496 MECP2 Zornitza Stark Gene: mecp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2496 MECP2 Zornitza Stark Phenotypes for gene: MECP2 were changed from to Rett syndrome, MIM# 312750; Intellectual developmental disorder, X-linked, syndromic 13, MIM# 300055; Encephalopathy, neonatal severe, MIM# 300673
Genetic Epilepsy v0.2495 MECP2 Zornitza Stark Publications for gene: MECP2 were set to
Genetic Epilepsy v0.2494 MECP2 Zornitza Stark Mode of inheritance for gene: MECP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.2139 CP Zornitza Stark Marked gene: CP as ready
Genetic Epilepsy v0.2139 CP Zornitza Stark Gene: cp has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2139 CP Zornitza Stark Classified gene: CP as Amber List (moderate evidence)
Genetic Epilepsy v0.2139 CP Zornitza Stark Gene: cp has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2138 CP Lilian Downie gene: CP was added
gene: CP was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CP were set to PMID: 32741407, PMID: 18200628
Phenotypes for gene: CP were set to Hemosiderosis, systemic, due to aceruloplasminemia MIM#604290
Review for gene: CP was set to AMBER
Added comment: Reports of patients x3 with seizures as part of this phenotype.
***This is an adult onset brain iron accumulation neurodegenerative disorder***
Sources: Expert list
Genetic Epilepsy v0.2040 CPT2 Elena Savva Marked gene: CPT2 as ready
Genetic Epilepsy v0.2040 CPT2 Elena Savva Gene: cpt2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2040 CPT2 Elena Savva Classified gene: CPT2 as Green List (high evidence)
Genetic Epilepsy v0.2040 CPT2 Elena Savva Gene: cpt2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2038 CPT2 Andrew Fennell gene: CPT2 was added
gene: CPT2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPT2 were set to PMID: 20301431; 35028265; 36478999
Phenotypes for gene: CPT2 were set to CPT II deficiency, infantile 600649; CPT II deficiency, lethal neonatal 608836; CPT II deficiency, myopathic, stress-induced 255110
Review for gene: CPT2 was set to GREEN
Added comment: GeneReviews quotes seizures as a core component of the phenotype in lethal neonatal and severe infantile forms of the disorder.

PMID: 36478999 - single report of a 10yo male with CPT2 who developed focal seizures during an acute episode.

PMID: 35028265 - single report of a male who presented at 5 months of age with infantile‐onset carnitine palmitoyltransferase 2 (CPT2) deficiency. He also had X‐linked nephrogenic diabetes insipidus. He developed focal seizures at 17yo.
Sources: Literature
Genetic Epilepsy v0.2023 CPT1A Zornitza Stark Publications for gene: CPT1A were set to 12189492; 33565078
Genetic Epilepsy v0.2022 CPT1A Zornitza Stark Classified gene: CPT1A as Green List (high evidence)
Genetic Epilepsy v0.2022 CPT1A Zornitza Stark Gene: cpt1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2019 CPT1A Andrew Fennell reviewed gene: CPT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34869124, 20696606; Phenotypes: CPT deficiency, hepatic, type IA, MIM# 255120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1950 ADCY5 John Coleman gene: ADCY5 was added
gene: ADCY5 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ADCY5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ADCY5 were set to (PMID: 36003298; 33564903; 27061943)
Review for gene: ADCY5 was set to AMBER
Added comment: AD and AR dyskinesia phenotype. Only one confirmed case of epilepsy of 119 cases, 2 suspected but unconfirmed. Strong dyskinesia phenotype that may have similar overlapping features. Epilepsy/ seizures not a reported phenotype on OMIM. No other cases reported on literature search. Gene not curated on ClinGen. Dystonia, myoclonus and choreoathetosis the predominant phenotype (gene included in Mediliome, CP, channelopathies, dystonia and dyskinesia panels). Caution regarding overlap of epilepsy features and phenotyping but appears to have distinct dyskinesia phenotype. ?Moderate Vs limited evidence.
Sources: Literature
Genetic Epilepsy v0.1897 TUBGCP2 Zornitza Stark Marked gene: TUBGCP2 as ready
Genetic Epilepsy v0.1897 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1897 TUBGCP2 Zornitza Stark Classified gene: TUBGCP2 as Green List (high evidence)
Genetic Epilepsy v0.1897 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1896 TUBGCP2 Zornitza Stark gene: TUBGCP2 was added
gene: TUBGCP2 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP2 were set to 31630790
Phenotypes for gene: TUBGCP2 were set to Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM # 618737
Review for gene: TUBGCP2 was set to GREEN
Added comment: PMID: 31630790 (2019) - Five patients from four families with biallelic variants in the TUBGCP2 gene. Affected individuals shared phenotypic features that included progressive microcephaly (4/4), developmental delay (5/5, mild-severe), generalised seizures (4/5, onset at 6yrs-9m, 5m, and 7m). All patients exhibited lissencephaly-spectrum phenotypes with varying degrees of cortical malformations on brain imaging including pachygyria and subcortical band heterotopia.

All variants segregated with disease in each family. Analysis of fibroblasts derived from one patient with a splice site variant revealed several abnormal transcripts, predicted to result in LoF. No further functional studies of other variants or patient cells were performed.
Sources: Expert Review
Genetic Epilepsy v0.1605 CPSF3 Zornitza Stark Phenotypes for gene: CPSF3 were changed from Neurodevelopmental disorder, CPSF3-related, MONDO:0700092 to Neurodevelopmental disorder with microcephaly, hypotonia, and seizures (NEDMHS), MIM#619876
Genetic Epilepsy v0.1604 CPSF3 Zornitza Stark reviewed gene: CPSF3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, hypotonia, and seizures (NEDMHS), MIM#619876; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1460 CPSF3 Alison Yeung Classified gene: CPSF3 as Green List (high evidence)
Genetic Epilepsy v0.1460 CPSF3 Alison Yeung Gene: cpsf3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1461 CPSF3 Alison Yeung Phenotypes for gene: CPSF3 were changed from Neurodevelopmental disorder, CPSF3-related, MONDO:0700092 to Neurodevelopmental disorder, CPSF3-related, MONDO:0700092
Genetic Epilepsy v0.1461 CPSF3 Alison Yeung Phenotypes for gene: CPSF3 were changed from Neurodevelopmental disorder, CPSF3-related, MONDO:0700092 to Neurodevelopmental disorder, CPSF3-related, MONDO:0700092
Genetic Epilepsy v0.1460 CPSF3 Alison Yeung Phenotypes for gene: CPSF3 were changed from Intellectual disability syndrome to Neurodevelopmental disorder, CPSF3-related, MONDO:0700092
Genetic Epilepsy v0.1460 CPSF3 Alison Yeung Classified gene: CPSF3 as Green List (high evidence)
Genetic Epilepsy v0.1460 CPSF3 Alison Yeung Gene: cpsf3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1459 CPSF3 Alison Yeung Marked gene: CPSF3 as ready
Genetic Epilepsy v0.1459 CPSF3 Alison Yeung Gene: cpsf3 has been removed from the panel.
Genetic Epilepsy v0.1459 CPSF3 Belinda Chong gene: CPSF3 was added
gene: CPSF3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CPSF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPSF3 were set to 35121750
Phenotypes for gene: CPSF3 were set to Intellectual disability syndrome
Review for gene: CPSF3 was set to GREEN
gene: CPSF3 was marked as current diagnostic
Added comment: Study of a deficit of observed homozygous carriers of missense variants, versus an expected number in a set of 153,054 chip-genotyped Icelanders, to identify potentially pathogenic genotypes

Six homozygous carriers of missense variants in CPSF3 show severe intellectual disability, seizures, microcephaly, and abnormal muscle tone.

- Four identified through Icelandic geneology (p.Gly468Glu), three carrier couples total of four children who had died prematurely. Tested archival samples for two of these children, and confirm a homozygous genotype.
- Two of Mexican descent (p.Ile354Thr), first-degree cousins
Sources: Literature
Genetic Epilepsy v0.1390 CPA6 Zornitza Stark Tag refuted tag was added to gene: CPA6.
Tag disputed tag was added to gene: CPA6.
Genetic Epilepsy v0.1379 CPA6 Bryony Thompson Classified gene: CPA6 as Red List (low evidence)
Genetic Epilepsy v0.1379 CPA6 Bryony Thompson Added comment: Comment on list classification: ClinGen Epilepsy GCEP has reviewed both inheritances for gene-disease associations with epilepsy: AR disease is Disputed - There is contradictory case level and experimental data regarding any association between CPA6 and autosomal recessive epilepsy. Classification - 07/29/2021 AD disease is Refuted- There is very limited evidence supporting a gene-disease association. Many of the reported pathogenic variants have been subsequently identified as having a high minor allele frequency in population databases. Classification - 07/29/2021
Genetic Epilepsy v0.1379 CPA6 Bryony Thompson Gene: cpa6 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1310 CPT1A Zornitza Stark Marked gene: CPT1A as ready
Genetic Epilepsy v0.1310 CPT1A Zornitza Stark Gene: cpt1a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1310 CPT1A Zornitza Stark Classified gene: CPT1A as Amber List (moderate evidence)
Genetic Epilepsy v0.1310 CPT1A Zornitza Stark Gene: cpt1a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1309 CPT1A Zornitza Stark gene: CPT1A was added
gene: CPT1A was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPT1A were set to 12189492; 33565078
Phenotypes for gene: CPT1A were set to CPT deficiency, hepatic, type IA, MIM# 255120
Review for gene: CPT1A was set to AMBER
Added comment: Well established gene-disease association.

CPT I deficiency is an autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycaemia usually occurring after fasting or illness. Onset is in infancy or early childhood.

Case report of presentation with seizures.
Sources: Expert Review
Genetic Epilepsy v0.1266 TUBGCP6 Zornitza Stark Marked gene: TUBGCP6 as ready
Genetic Epilepsy v0.1266 TUBGCP6 Zornitza Stark Gene: tubgcp6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1266 TUBGCP6 Zornitza Stark Classified gene: TUBGCP6 as Green List (high evidence)
Genetic Epilepsy v0.1266 TUBGCP6 Zornitza Stark Gene: tubgcp6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1265 TUBGCP6 Krithika Murali gene: TUBGCP6 was added
gene: TUBGCP6 was added to Genetic Epilepsy. Sources: Expert list,Literature
Mode of inheritance for gene: TUBGCP6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP6 were set to 22279524; 33453472
Phenotypes for gene: TUBGCP6 were set to Microcephaly and chorioretinopathy, autosomal recessive, 1 - 251270; Epilepsy
Review for gene: TUBGCP6 was set to GREEN
Added comment: Known association with congenital microcephaly, developmental delay and retinal disorders with epilepsy also reported in some individuals.
Sources: Expert list, Literature
Genetic Epilepsy v0.992 CPA6 Zornitza Stark Mode of inheritance for gene: CPA6 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.991 CPA6 Zornitza Stark Classified gene: CPA6 as Amber List (moderate evidence)
Genetic Epilepsy v0.991 CPA6 Zornitza Stark Gene: cpa6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.990 CPA6 Zornitza Stark edited their review of gene: CPA6: Added comment: Homozygous p.A270V variant reported in four siblings with Febrile seizures, familial, 11 (MIM 614418)(PMID:21922598), some functional data. Also note one of the heterozygous individuals initially reported was subsequently found to have a second missense variant, PMID 23105115.

Disputed association between mono allelic variants and disease.; Changed rating: AMBER; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.990 CPA6 Elena Savva reviewed gene: CPA6: Rating: RED; Mode of pathogenicity: None; Publications: PMID:25875328, 21922598, 23105115, 32207733; Phenotypes: Epilepsy, familial temporal lobe, 5 MIM#614417, Febrile seizures, familial, 11 MIM#614418; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.692 YIF1B Konstantinos Varvagiannis changed review comment from: Abnormality of movement
AlMuhaizea et al (2020 - PMID: 32006098) report on the phenotype of 6 individuals (from 5 families) with biallelic YIF1B truncating variants.

Affected subjects presented hypotonia, failure to thrive, microcephaly (5/6), severe global DD and ID (as evident from best motor/language milestones achieved - Table S1) as well as features suggestive of a motor disorder (dystonia/spasticity/dyskinesia). Seizures were reported in 2 unrelated individuals (2/6). MRI abnormalities were observed in some with thin CC being a feature in 3.

Variable initial investigations were performed including SNP CMA, MECP2, microcephaly / neurotransmitter disorders gene panel testing did not reveal P/LP variants.

YIF1B variants were identified in 3 families within ROH. Following exome sequencing, affected individuals were found to be homozygous for truncating variants (4/5 families being consanguineous). The following 3 variants were identified (NM_001039672.2) : c.186dupT or p.Ala64fs / c.360_361insACAT or p.Gly121fs / c.598G>T or p.Glu200*.

YIF1B encodes an intracellular transmembrane protein.

It has been previously demonstrated that - similarly to other proteins of the Yip family being implicated in intracellular traffic between the Golgi - Yif1B is involved in the anterograde traffic pathway. Yif1B KO mice demonstrate a disorganized Golgi architecture in pyramidal hippocampal neurons (Alterio et al 2015 - PMID: 26077767). The rat ortholog interacts with serotonin receptor 1 (5-HT1AR) with colocalization of Yif1BB and 5-HT1AR in intermediate compartment vesicles and involvement of the former in intracellular trafficing/modulation of 5-HT1AR transport to dendrites (PMID cited: 18685031).

Available mRNA and protein expression data (Protein Atlas) suggest that the gene is widely expressed in all tissues incl. neuronal cells. Immunochemistry data from the Human Brain Atlas also suggest that YIF1B is found in vesicles and localized to the Golgi apparatus. Immunohistochemistry in normal human brain tissue (cerebral cortex) demonstrated labeling of neuronal cells (Human Protein Atlas).

Functional/network analysis of genes co-regulated with YIF1B based on available RNAseq data, suggest enrichement in in genes important for nervous system development and function.

Please consider inclusion in other panels that may be relevant (e.g. microcephaly, etc).
Sources: Literature; to: AlMuhaizea et al (2020 - PMID: 32006098) report on the phenotype of 6 individuals (from 5 families) with biallelic YIF1B truncating variants.

Affected subjects presented hypotonia, failure to thrive, microcephaly (5/6), severe global DD and ID (as evident from best motor/language milestones achieved - Table S1) as well as features suggestive of a motor disorder (dystonia/spasticity/dyskinesia). Seizures were reported in 2 unrelated individuals (2/6). MRI abnormalities were observed in some with thin CC being a feature in 3.

Variable initial investigations were performed including SNP CMA, MECP2, microcephaly / neurotransmitter disorders gene panel testing did not reveal P/LP variants.

YIF1B variants were identified in 3 families within ROH. Following exome sequencing, affected individuals were found to be homozygous for truncating variants (4/5 families being consanguineous). The following 3 variants were identified (NM_001039672.2) : c.186dupT or p.Ala64fs / c.360_361insACAT or p.Gly121fs / c.598G>T or p.Glu200*.

YIF1B encodes an intracellular transmembrane protein.

It has been previously demonstrated that - similarly to other proteins of the Yip family being implicated in intracellular traffic between the Golgi - Yif1B is involved in the anterograde traffic pathway. Yif1B KO mice demonstrate a disorganized Golgi architecture in pyramidal hippocampal neurons (Alterio et al 2015 - PMID: 26077767). The rat ortholog interacts with serotonin receptor 1 (5-HT1AR) with colocalization of Yif1BB and 5-HT1AR in intermediate compartment vesicles and involvement of the former in intracellular trafficing/modulation of 5-HT1AR transport to dendrites (PMID cited: 18685031).

Available mRNA and protein expression data (Protein Atlas) suggest that the gene is widely expressed in all tissues incl. neuronal cells. Immunochemistry data from the Human Brain Atlas also suggest that YIF1B is found in vesicles and localized to the Golgi apparatus. Immunohistochemistry in normal human brain tissue (cerebral cortex) demonstrated labeling of neuronal cells (Human Protein Atlas).

Functional/network analysis of genes co-regulated with YIF1B based on available RNAseq data, suggest enrichement in in genes important for nervous system development and function.

Please consider inclusion in other panels that may be relevant (e.g. microcephaly, etc).
Sources: Literature
Genetic Epilepsy v0.692 YIF1B Konstantinos Varvagiannis gene: YIF1B was added
gene: YIF1B was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: YIF1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YIF1B were set to 32006098
Phenotypes for gene: YIF1B were set to Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement
Penetrance for gene: YIF1B were set to Complete
Review for gene: YIF1B was set to AMBER
Added comment: Abnormality of movement
AlMuhaizea et al (2020 - PMID: 32006098) report on the phenotype of 6 individuals (from 5 families) with biallelic YIF1B truncating variants.

Affected subjects presented hypotonia, failure to thrive, microcephaly (5/6), severe global DD and ID (as evident from best motor/language milestones achieved - Table S1) as well as features suggestive of a motor disorder (dystonia/spasticity/dyskinesia). Seizures were reported in 2 unrelated individuals (2/6). MRI abnormalities were observed in some with thin CC being a feature in 3.

Variable initial investigations were performed including SNP CMA, MECP2, microcephaly / neurotransmitter disorders gene panel testing did not reveal P/LP variants.

YIF1B variants were identified in 3 families within ROH. Following exome sequencing, affected individuals were found to be homozygous for truncating variants (4/5 families being consanguineous). The following 3 variants were identified (NM_001039672.2) : c.186dupT or p.Ala64fs / c.360_361insACAT or p.Gly121fs / c.598G>T or p.Glu200*.

YIF1B encodes an intracellular transmembrane protein.

It has been previously demonstrated that - similarly to other proteins of the Yip family being implicated in intracellular traffic between the Golgi - Yif1B is involved in the anterograde traffic pathway. Yif1B KO mice demonstrate a disorganized Golgi architecture in pyramidal hippocampal neurons (Alterio et al 2015 - PMID: 26077767). The rat ortholog interacts with serotonin receptor 1 (5-HT1AR) with colocalization of Yif1BB and 5-HT1AR in intermediate compartment vesicles and involvement of the former in intracellular trafficing/modulation of 5-HT1AR transport to dendrites (PMID cited: 18685031).

Available mRNA and protein expression data (Protein Atlas) suggest that the gene is widely expressed in all tissues incl. neuronal cells. Immunochemistry data from the Human Brain Atlas also suggest that YIF1B is found in vesicles and localized to the Golgi apparatus. Immunohistochemistry in normal human brain tissue (cerebral cortex) demonstrated labeling of neuronal cells (Human Protein Atlas).

Functional/network analysis of genes co-regulated with YIF1B based on available RNAseq data, suggest enrichement in in genes important for nervous system development and function.

Please consider inclusion in other panels that may be relevant (e.g. microcephaly, etc).
Sources: Literature
Genetic Epilepsy v0.690 CDC42BPB Konstantinos Varvagiannis gene: CDC42BPB was added
gene: CDC42BPB was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CDC42BPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDC42BPB were set to 32031333
Phenotypes for gene: CDC42BPB were set to Central hypotonia; Global developmental delay; Intellectual disability; Seizures; Autistic behavior; Behavioral abnormality
Penetrance for gene: CDC42BPB were set to unknown
Review for gene: CDC42BPB was set to AMBER
Added comment: Chilton et al (2020 - PMID: 32031333) report on 14 individuals with missense and loss-of-function CDC42BPB variants.

Features included hypotonia (8/11), DD (12/13 - the 14th was a fetus), ID (7/13), ASD (8/12), clinical seizures (in 3 - a 4th had abnormal EEG without seizures), behavioral abnormalities. Variable non-specific dysmorphic features were reported in some (sparse hair being the most frequent - 4/8). Additional features were observed in few (=<4) incl. cryptorchidism, ophthalmological issues, constipation, kidney abnormalities, micropenis, etc.

All individuals had non-diagnostic prior genetic testing (incl. CMA, FMR1, MECP2, Angelman/Prader-Willi methylation studies, autism gene panel - suggesting relevance to the current panel) or metabolic testing.

Variants were identified following clinical exome sequencing with Sanger confirmation. Most occurred as de novo events (11/14) while inheritance was not available for few (3/14). Missense variants did not display (particular) clustering.

Almost all variants were absent from gnomAD and were predicted to be deleterious in silico (among others almost all had CADD scores >25).

As the authors comment, CDC42BPB encodes myotonic dystrophy-related Cdc42-binding kinase β (MRCKβ) a serine/threonine protein kinase playing a role in regulation of cytoskeletal reorganization and cell migration in nonmuscle cells (through phosporylation of MLC2).

Previous studies have demonstrated that it is ubiquitously expressed with prenatal brain expression.

The gene appears to be intolerant to pLoF (pLI of 1) as well as to missense variants (Z-score of 3.66).

CDC42BPB is a downstream effector of CDC42. Mutations of the latter cause Takenouchi-Kosaki syndrome with DD/ID and some further overlapping features (with CDC42BPB-associated phenotypes).

Homozygous Cdc42bpb KO in mouse appears to be nonviable (MGI:2136459). Loss of gek in the eyes of Drosophila results in disrupted growth cone targeting to the lamina (gek is the fly CDC42BPB ortholog).
Sources: Literature
Genetic Epilepsy v0.70 CPLX1 Zornitza Stark Marked gene: CPLX1 as ready
Genetic Epilepsy v0.70 CPLX1 Zornitza Stark Gene: cplx1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.70 CPLX1 Zornitza Stark Classified gene: CPLX1 as Green List (high evidence)
Genetic Epilepsy v0.70 CPLX1 Zornitza Stark Gene: cplx1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.69 CPLX1 Zornitza Stark gene: CPLX1 was added
gene: CPLX1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: CPLX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPLX1 were set to 26539891; 28422131
Phenotypes for gene: CPLX1 were set to Epileptic encephalopathy, early infantile, 63, MIM# 617976
Review for gene: CPLX1 was set to GREEN
Added comment: Five individuals from three unrelated families reported in larger neurodevelopmental cohorts.
Sources: Expert list
Genetic Epilepsy v0.14 CPA6 Zornitza Stark Marked gene: CPA6 as ready
Genetic Epilepsy v0.14 CPA6 Zornitza Stark Gene: cpa6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.14 CPA6 Zornitza Stark Phenotypes for gene: CPA6 were changed from to Epilepsy, familial temporal lobe, 5, MIM#614417; Febrile seizures, familial, 11, MIM#614418
Genetic Epilepsy v0.13 CPA6 Zornitza Stark Publications for gene: CPA6 were set to
Genetic Epilepsy v0.12 CPA6 Zornitza Stark Mode of inheritance for gene: CPA6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.11 CPA6 Zornitza Stark reviewed gene: CPA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25875328, 21922598, 23105115; Phenotypes: Epilepsy, familial temporal lobe, 5, MIM#614417, Febrile seizures, familial, 11, MIM#614418; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.0 MECP2 Zornitza Stark gene: MECP2 was added
gene: MECP2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MECP2 was set to Unknown
Genetic Epilepsy v0.0 CPA6 Zornitza Stark gene: CPA6 was added
gene: CPA6 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CPA6 was set to Unknown