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Early onset or syndromic epilepsy v0.1165 RMND1 Sarah Leigh Publications for gene: RMND1 were set to
Early onset or syndromic epilepsy v0.1164 NDUFA1 Ivone Leong Phenotypes for gene: NDUFA1 were changed from to Mitochondrial complex I deficiency, 252010
Early onset or syndromic epilepsy v0.1163 NDE1 Ivone Leong Marked gene: NDE1 as ready
Early onset or syndromic epilepsy v0.1163 NDE1 Ivone Leong Gene: nde1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1163 NDE1 Ivone Leong Classified gene: NDE1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1163 NDE1 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. NDE1 is confirmed to be a causative gene of Lissencephaly by OMIM and Gene2Phenotype. Both sources list seizures as a phenotype of the disease. There are 3 papers (PMID:21529752, 21529751, 22526350) reporting on 5 unrelated families with 8 affected individuals who have Lissencephaly and have different variants in the NDE1 gene. All patients are of Pakistani, Turkish or Saudi Arabian descent.
Early onset or syndromic epilepsy v0.1163 NDE1 Ivone Leong Gene: nde1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1162 NDE1 Ivone Leong Publications for gene: NDE1 were set to
Early onset or syndromic epilepsy v0.1161 RMND1 Sarah Leigh Phenotypes for gene: RMND1 were changed from to Combined oxidative phosphorylation deficiency 11, 614922
Early onset or syndromic epilepsy v0.1160 RMND1 Sarah Leigh Mode of inheritance for gene: RMND1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1159 RFT1 Sarah Leigh Marked gene: RFT1 as ready
Early onset or syndromic epilepsy v0.1159 RFT1 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 7 variants reported in at least 6 unrelated cases in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.1159 RFT1 Sarah Leigh Gene: rft1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1159 RFT1 Sarah Leigh Classified gene: RFT1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1159 RFT1 Sarah Leigh Gene: rft1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1158 RFT1 Sarah Leigh Mode of inheritance for gene: RFT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1157 RFT1 Sarah Leigh Publications for gene: RFT1 were set to
Early onset or syndromic epilepsy v0.1156 NDE1 Ivone Leong Mode of inheritance for gene: NDE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1155 RFT1 Sarah Leigh Phenotypes for gene: RFT1 were changed from to Congenital disorder of glycosylation, type In, 612015
Early onset or syndromic epilepsy v0.1154 NDE1 Ivone Leong Phenotypes for gene: NDE1 were changed from to Lissencephaly 4 (with microcephaly), 614019
Early onset or syndromic epilepsy v0.1153 MED12 Ivone Leong Marked gene: MED12 as ready
Early onset or syndromic epilepsy v0.1153 MED12 Ivone Leong Gene: med12 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1153 MED12 Ivone Leong Classified gene: MED12 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1153 MED12 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green, based on the information provided previously.
Early onset or syndromic epilepsy v0.1153 MED12 Ivone Leong Gene: med12 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1152 RARS2 Sarah Leigh Mode of inheritance for gene: RARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1151 RARS2 Sarah Leigh Classified gene: RARS2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1151 RARS2 Sarah Leigh Gene: rars2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1150 RARS2 Sarah Leigh Marked gene: RARS2 as ready
Early onset or syndromic epilepsy v0.1150 RARS2 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in 4 unrelated cases, in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.1150 RARS2 Sarah Leigh Gene: rars2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1150 RARS2 Sarah Leigh Phenotypes for gene: RARS2 were changed from to Pontocerebellar hypoplasia, type 6, 611523
Early onset or syndromic epilepsy v0.1149 RARS2 Sarah Leigh Publications for gene: RARS2 were set to
Early onset or syndromic epilepsy v0.1148 KRAS Ivone Leong Marked gene: KRAS as ready
Early onset or syndromic epilepsy v0.1148 KRAS Ivone Leong Gene: kras has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1148 KRAS Ivone Leong Classified gene: KRAS as Green List (high evidence)
Early onset or syndromic epilepsy v0.1148 KRAS Ivone Leong Added comment: Comment on list classification: Promoted from amber to green as an additional report on a patient with a variant in the KRAS gene who also has seizures (PMID: 17601930).
Early onset or syndromic epilepsy v0.1148 KRAS Ivone Leong Gene: kras has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1147 KRAS Ivone Leong Publications for gene: KRAS were set to 21871821; 23059812; 16474405; 21871821
Early onset or syndromic epilepsy v0.1146 RAB18 Sarah Leigh Marked gene: RAB18 as ready
Early onset or syndromic epilepsy v0.1146 RAB18 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported 3 unrelated cases, each of the variants was associated with at least one case in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.1146 RAB18 Sarah Leigh Gene: rab18 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1146 HCN2 Ivone Leong Marked gene: HCN2 as ready
Early onset or syndromic epilepsy v0.1146 HCN2 Ivone Leong Gene: hcn2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1146 RAB18 Sarah Leigh Publications for gene: RAB18 were set to 15216543
Early onset or syndromic epilepsy v0.1145 RAB18 Sarah Leigh Mode of inheritance for gene: RAB18 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1144 RAB18 Sarah Leigh Classified gene: RAB18 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1144 RAB18 Sarah Leigh Gene: rab18 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1143 RAB18 Sarah Leigh Phenotypes for gene: RAB18 were changed from to Warburg micro syndrome 3, 614222
Early onset or syndromic epilepsy v0.1142 RAB18 Sarah Leigh Publications for gene: RAB18 were set to
Early onset or syndromic epilepsy v0.1141 RAB11B Sarah Leigh Marked gene: RAB11B as ready
Early onset or syndromic epilepsy v0.1141 RAB11B Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 2 variants reported in 5 unrelated cases, of which epileptic seizures were reported in three cases. Protein modeling suggested that both variants alter the GTP/GDP binding pocket and reveal that they both have localization patterns similar to inactive RAB11B (PMID 29106825).
Early onset or syndromic epilepsy v0.1141 RAB11B Sarah Leigh Gene: rab11b has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1141 RAB11B Sarah Leigh Publications for gene: RAB11B were set to
Early onset or syndromic epilepsy v0.1140 RAB11B Sarah Leigh Classified gene: RAB11B as Green List (high evidence)
Early onset or syndromic epilepsy v0.1140 RAB11B Sarah Leigh Gene: rab11b has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1139 QDPR Sarah Leigh Marked gene: QDPR as ready
Early onset or syndromic epilepsy v0.1139 QDPR Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 16 variants reported as in unrelated cases. PMID 26006720 reports seizures in 83% (20 cases) of Hyperphenylalaninemia, BH4-deficient, C, 261630.
Early onset or syndromic epilepsy v0.1139 QDPR Sarah Leigh Gene: qdpr has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1139 QDPR Sarah Leigh Classified gene: QDPR as Green List (high evidence)
Early onset or syndromic epilepsy v0.1139 QDPR Sarah Leigh Gene: qdpr has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1138 QDPR Sarah Leigh Publications for gene: QDPR were set to
Early onset or syndromic epilepsy v0.1137 QDPR Sarah Leigh Phenotypes for gene: QDPR were changed from to Hyperphenylalaninemia, BH4-deficient, C, 261630
Early onset or syndromic epilepsy v0.1136 QDPR Sarah Leigh Mode of inheritance for gene: QDPR was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1135 PTS Sarah Leigh Marked gene: PTS as ready
Early onset or syndromic epilepsy v0.1135 PTS Sarah Leigh Gene: pts has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1135 PTS Sarah Leigh Classified gene: PTS as Green List (high evidence)
Early onset or syndromic epilepsy v0.1135 PTS Sarah Leigh Gene: pts has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1134 PTS Sarah Leigh Publications for gene: PTS were set to 11916314; 16364672
Early onset or syndromic epilepsy v0.1133 EIF2B5 Rebecca Foulger Publications for gene: EIF2B5 were set to 17646634; 21484434; 15136690; 29995139
Early onset or syndromic epilepsy v0.1132 EIF2B5 Rebecca Foulger Publications for gene: EIF2B5 were set to 17646634; 21484434; 15136690
Early onset or syndromic epilepsy v0.1131 EIF2B1 Rebecca Foulger Publications for gene: EIF2B1 were set to
Early onset or syndromic epilepsy v0.1130 EIF2B1 Rebecca Foulger commented on gene: EIF2B1: In a 2-year-old Chinese girl (case 29) with MIM:603896, Zhang et al. (2015, PMID:25761052) identified a homozygous c(c.328A-G, NM_001414) in exon 4 of the EIF2B1 gene (KL110E). The patient had seizures.
Early onset or syndromic epilepsy v0.1130 EIF2B1 Rebecca Foulger commented on gene: EIF2B1
Early onset or syndromic epilepsy v0.1130 EIF2B1 Rebecca Foulger Mode of inheritance for gene: EIF2B1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1129 EIF2B1 Rebecca Foulger Phenotypes for gene: EIF2B1 were changed from to Leukoencephalopathy with vanishing white matter, 603896
Early onset or syndromic epilepsy v0.1128 EARS2 Rebecca Foulger Marked gene: EARS2 as ready
Early onset or syndromic epilepsy v0.1128 EARS2 Rebecca Foulger Gene: ears2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1128 EARS2 Rebecca Foulger Classified gene: EARS2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1128 EARS2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Green review from Zornitza plus sufficient cases (>3) of seizures and/or epilepsy in patients from the literature (PMIDs:22492562, 26619324, 27117034, 27206875) for inclusion on panel.
Early onset or syndromic epilepsy v0.1128 EARS2 Rebecca Foulger Gene: ears2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1127 EARS2 Rebecca Foulger Publications for gene: EARS2 were set to
Early onset or syndromic epilepsy v0.1126 EARS2 Rebecca Foulger Phenotypes for gene: EARS2 were changed from Combined oxidative phosphorylation deficiency 12, 614924; Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) to Combined oxidative phosphorylation deficiency 12, 614924; Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL); Drug-refractory seizures; Epilepsy
Early onset or syndromic epilepsy v0.1125 EARS2 Rebecca Foulger commented on gene: EARS2
Early onset or syndromic epilepsy v0.1125 EARS2 Rebecca Foulger Phenotypes for gene: EARS2 were changed from Combined oxidative phosphorylation deficiency 12, 614924 to Combined oxidative phosphorylation deficiency 12, 614924; Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL)
Early onset or syndromic epilepsy v0.1124 EARS2 Rebecca Foulger Mode of inheritance for gene: EARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1123 EARS2 Rebecca Foulger Phenotypes for gene: EARS2 were changed from to Combined oxidative phosphorylation deficiency 12, 614924
Early onset or syndromic epilepsy v0.1122 DYNC1H1 Rebecca Foulger Marked gene: DYNC1H1 as ready
Early onset or syndromic epilepsy v0.1122 DYNC1H1 Rebecca Foulger Gene: dync1h1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1122 DYNC1H1 Rebecca Foulger Classified gene: DYNC1H1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1122 DYNC1H1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Green review by Zornitza and sufficient unrelated cases (7 sporadic cases plus two brothers and their mother) in PMID:23603762 of patients with epilepsy for inclusion on panel.
Early onset or syndromic epilepsy v0.1122 DYNC1H1 Rebecca Foulger Gene: dync1h1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1121 DYNC1H1 Rebecca Foulger Phenotypes for gene: DYNC1H1 were changed from Mental retardation, autosomal dominant 13, 614563; Lennox Gastaut; Early-onset epilepsy; Late-onset epilepsy; Focal seizures to Mental retardation, autosomal dominant 13, 614563; malformations of cortical development (MCD); Lennox Gastaut; Early-onset epilepsy; Late-onset epilepsy; Focal seizures
Early onset or syndromic epilepsy v0.1120 DYNC1H1 Rebecca Foulger Phenotypes for gene: DYNC1H1 were changed from Mental retardation, autosomal dominant 13, 614563 to Mental retardation, autosomal dominant 13, 614563; Lennox Gastaut; Early-onset epilepsy; Late-onset epilepsy; Focal seizures
Early onset or syndromic epilepsy v0.1119 DYNC1H1 Rebecca Foulger commented on gene: DYNC1H1
Early onset or syndromic epilepsy v0.1119 DYNC1H1 Rebecca Foulger Mode of inheritance for gene: DYNC1H1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.1118 DYNC1H1 Rebecca Foulger Publications for gene: DYNC1H1 were set to
Early onset or syndromic epilepsy v0.1117 DYNC1H1 Rebecca Foulger Phenotypes for gene: DYNC1H1 were changed from to Mental retardation, autosomal dominant 13, 614563
Early onset or syndromic epilepsy v0.1116 DPM1 Rebecca Foulger Marked gene: DPM1 as ready
Early onset or syndromic epilepsy v0.1116 DPM1 Rebecca Foulger Gene: dpm1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1116 DPM1 Rebecca Foulger Added comment: Comment on publications: Epilepsy is not reported in all patients. Severe epilepsy was not present in 2 French siblings with CDG1E, born of consanguineous Algerian parents, as reported Dancourt et al. (2006, PMID:16641202).
Early onset or syndromic epilepsy v0.1116 DPM1 Rebecca Foulger Publications for gene: DPM1 were set to 23856421; 10642597; 10642602
Early onset or syndromic epilepsy v0.1115 DPM1 Rebecca Foulger Classified gene: DPM1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1115 DPM1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Green review by Zornitza. Confirmed DD-G2P gene for congenital disorder of glycosylation, which can present with seizures. Sufficient cases of seizures in patients with CDG1E (MIM:608799) for inclusion on panel: 4 unrelated cases in PMIDs 23856421, 10642597 and 10642602, several of which are compound heterozygous for a substitution AND a deletion in DPM1.
Early onset or syndromic epilepsy v0.1115 DPM1 Rebecca Foulger Gene: dpm1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1114 DPM1 Rebecca Foulger Publications for gene: DPM1 were set to
Early onset or syndromic epilepsy v0.1113 DPM1 Rebecca Foulger commented on gene: DPM1: Imbach et al. (2000, PMID:10642602) report a brother and sister with severe developmental delay, repeated seizures, and dysmorphic features. Both sibs were compound heterozygous for the 274C>G (R92G) transversion and a 628delC deletion in DPM1.
Early onset or syndromic epilepsy v0.1113 DPM1 Rebecca Foulger commented on gene: DPM1: Kim et al., 2000 (PMID:10642597) report a patient with CDG1E and a homozygous 274C-G transversion in the DPM1 gene (p.R92G). Another unrelated patient was compound heterozygous for the R92G variant and a 13-bp deletion in exon 4 that may result in an unstable transcript. Both patients were recorded with medically intractable seizures
Early onset or syndromic epilepsy v0.1113 DPM1 Rebecca Foulger commented on gene: DPM1
Early onset or syndromic epilepsy v0.1113 DPM1 Rebecca Foulger Mode of inheritance for gene: DPM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1112 DPM1 Rebecca Foulger Phenotypes for gene: DPM1 were changed from to Congenital disorder of glycosylation, type Ie, 608799
Early onset or syndromic epilepsy v0.1111 TELO2 Konstantinos Varvagiannis reviewed gene: TELO2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27132593, 28944240; Phenotypes: You-Hoover-Fong syndrome, MIM 616954; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1111 TELO2 Konstantinos Varvagiannis Deleted their review
Early onset or syndromic epilepsy v0.1111 TELO2 Konstantinos Varvagiannis gene: TELO2 was added
gene: TELO2 was added to Genetic epilepsy syndromes. Sources: Literature,Expert Review
Mode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal
Penetrance for gene: TELO2 were set to Complete
Added comment: Biallelic mutations in TELO2 cause You-Hoover-Fong syndrome (MIM 616954). //

PMID: 27132593 reports on 6 patients (from 4 non-consanguineous families) with biallelic TELO2 variants and a similar phenotype.

Intellectual disability and microcephaly were universal features (6/6). Abnormal hearing (3/6), cortical visual impairment (3/6), abnormality of the cardiovascular system (3/6), behavioral problems (laughter outbursts in 3/6) and abnormal balance and movement disorder (6/6) were part of the phenotype. One individual had seizures.

5 missense variants and a complex allele with a stopgain variant localized in cis with a splice-site variant (NM_016111.3:c.514C>T or p.Gln172* in cis with c.2034+1G>A) are reported.

As a result heterozygosity for the complex variant may be confounded with compound heterozygous state until segregation studies are performed.

Functional studies support pathogenicity of the missense variants (reduced protein steady-state levels of TELO2 as well as TTI1 and TTI2 - the 2 other members of the TTT complex) suggesting loss of function.

PMID: 28944240 reports on 2 sisters born to non-consanguineous parents. Both were compound heterozygous for 2 novel variants, a missense and a frameshift one. Severe microcephaly (-8.5 SD and -10.7 SD) and seizures were noted in both. The first sister passed away at the age of 2 months due to a respiratory infection. The other sister demonstrated a compatible, though much more severe phenotype (ID and microcephaly) with additional features (dwarfism, renal anomalies, retinitis pigmentosa, etc) compared to previously reported patients. //

As a result this gene could possibly be considered for inclusion in this panel as amber (seizures in 3/8 patients reported to date - these individuals belonged to 2 different families) .
Sources: Literature, Expert Review
Early onset or syndromic epilepsy v0.1111 DPAGT1 Rebecca Foulger Marked gene: DPAGT1 as ready
Early onset or syndromic epilepsy v0.1111 DPAGT1 Rebecca Foulger Gene: dpagt1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1111 DPAGT1 Rebecca Foulger Classified gene: DPAGT1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1111 DPAGT1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Green review. Confirmed DD-G2P gene for Congenital disorder of glycosylation (CDG), which can present with seizures. Sufficient cases of seizures from the literature (3 cases from PMIDs:22304930, 23249953, 12872255) for inclusion on panel.
Early onset or syndromic epilepsy v0.1111 DPAGT1 Rebecca Foulger Gene: dpagt1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1110 DPAGT1 Rebecca Foulger commented on gene: DPAGT1: In a patient with central disorder of glycosylation type Ij, Wu et al. (2003, PMID:12872255) identified reduced DPAGT1 enzymatic activity. In the paternal allele, a variant Y170C was identified. Although no variant was identified in the maternal allele, it produced only 12% of the normal amount of mRNA. She had severe hypotonia and medically intractable seizures amongst her phenotypes.
Early onset or syndromic epilepsy v0.1110 DPAGT1 Rebecca Foulger commented on gene: DPAGT1: In a Pakistani brother and sister born of unrelated patients with a mild form of CDG Ij, Iqbal et al. (2013, PMID:23249953) identified compound heterozygous mutations in the DPAGT1 gene (I29F and L168P). The patients had normal psychomotor development until ages 2 and 5 years, respectively, when they both developed seizures, hypotonia, and aggressive behavior. Seizures and additional phenotypes continued into adulthood.
Early onset or syndromic epilepsy v0.1110 DPAGT1 Rebecca Foulger commented on gene: DPAGT1
Early onset or syndromic epilepsy v0.1110 HCN2 Ivone Leong Classified gene: HCN2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1110 HCN2 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. No phenotypes have been associated with HCN2 in OMIM or Gene2Phenotype. There are 2 papers (PMID: 29064616, 17931874) reporting misssense, frameshift and small deletion variants in HCN2 associated with Genetic epilepsy with febrile seizures plus disorders and other epilepsy/seizure disorders (e.g. Idiopathic generalized epilepsy). There is also evidence that these variants cause gain-of-function effects (PMID: 29064616). Another study reported on a patient with sporadic idiopathic generalised seizures who had a recessive loss-of-function missense variant. An HCN2 knockout mouse model (PMID: 12514127) had absence seizures.
Early onset or syndromic epilepsy v0.1110 HCN2 Ivone Leong Gene: hcn2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1109 HCN2 Ivone Leong Phenotypes for gene: HCN2 were changed from Genetic epilepsy with efbrile seizures plus; Other seizure disorders to Genetic epilepsy with febrile seizures plus; Other seizure disorders
Early onset or syndromic epilepsy v0.1108 HCN2 Ivone Leong Phenotypes for gene: HCN2 were changed from to Genetic epilepsy with efbrile seizures plus; Other seizure disorders
Early onset or syndromic epilepsy v0.1107 HCN2 Ivone Leong Mode of inheritance for gene: HCN2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1106 HCN2 Ivone Leong Publications for gene: HCN2 were set to 29064616; 20437590; 12514127; 17931874
Early onset or syndromic epilepsy v0.1105 HCN2 Ivone Leong Publications for gene: HCN2 were set to
Early onset or syndromic epilepsy v0.1104 GPHN Ivone Leong Marked gene: GPHN as ready
Early onset or syndromic epilepsy v0.1104 GPHN Ivone Leong Added comment: Comment when marking as ready: Gene is ready as there is enough evidence. All cases were selected based on the fact that patients were diagnosed with Molybdenum cofactor deficiency C or are positive for molybdenum cofactor deficiency who have a causative variant in the GPHN gene, who also have seizures. This is why PMID: 24561070, 23393157 were not included as publication sources.
Early onset or syndromic epilepsy v0.1104 GPHN Ivone Leong Gene: gphn has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1104 GPHN Ivone Leong Classified gene: GPHN as Green List (high evidence)
Early onset or syndromic epilepsy v0.1104 GPHN Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. GPHN is confirmed to be associated with Molybdenum cofactor deficiency C on OMIM, with seizures listed as a phenotype; however, there is nothing listed in Gene2Phenotype.
There are 3 papers (PMID: 26613940,12684523,11095995) reporting patients who have Molybdenum cofactor deficiency C with different variants in the GPHN gene. All of these patients are of different ethnicity and all have seizures.
Early onset or syndromic epilepsy v0.1104 GPHN Ivone Leong Gene: gphn has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1103 GPHN Ivone Leong Publications for gene: GPHN were set to
Early onset or syndromic epilepsy v0.1102 MED12 Ivone Leong commented on gene: MED12
Early onset or syndromic epilepsy v0.1102 MED12 Ivone Leong Publications for gene: MED12 were set to
Early onset or syndromic epilepsy v0.1101 MED12 Ivone Leong Phenotypes for gene: MED12 were changed from Lujan-Fryns syndrome, 309520 to Lujan-Fryns syndrome, 309520; Opitz-Kaveggia syndrome, 305450
Early onset or syndromic epilepsy v0.1100 MED12 Ivone Leong Mode of inheritance for gene: MED12 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v0.1099 MED12 Ivone Leong Phenotypes for gene: MED12 were changed from to Lujan-Fryns syndrome, 309520
Early onset or syndromic epilepsy v0.1098 MAP2K2 Ivone Leong Marked gene: MAP2K2 as ready
Early onset or syndromic epilepsy v0.1098 MAP2K2 Ivone Leong Gene: map2k2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1098 MAP2K2 Ivone Leong Classified gene: MAP2K2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1098 MAP2K2 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. MAP2K2 is confirmed to be associated with Cardiofaciocutaneous syndrome 4 in both OMIM and Gene2Phenotype. Only Gene2Phenotype lists seizures as a phenotype.
There are three reported cases (PMID: 29799162, 24719372, 27799067)
of unrelated probands with different variants (2 missense and one deletion) who have seizures. It should be noted that not all patients with a MAP2K2 variant experience seizures.
Early onset or syndromic epilepsy v0.1098 MAP2K2 Ivone Leong Gene: map2k2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1097 MAP2K2 Ivone Leong Publications for gene: MAP2K2 were set to 29799162; 2471937; 27799067
Early onset or syndromic epilepsy v0.1096 MAP2K2 Ivone Leong Publications for gene: MAP2K2 were set to
Early onset or syndromic epilepsy v0.1095 MACF1 Konstantinos Varvagiannis gene: MACF1 was added
gene: MACF1 was added to Genetic epilepsy syndromes. Sources: Literature,Expert Review
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MACF1 were set to Intellectual disability; Seizures; Lissencephaly; Brainstem dysplasia
Penetrance for gene: MACF1 were set to unknown
Mode of pathogenicity for gene: MACF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: MACF1 was set to GREEN
Added comment: Dobyns et al. (doi.org/10.1016/j.ajhg.2018.10.019) report on 9 individuals (all unrelated appart from a pair of monozygotic twins) with de novo variants in MACF1.

All patients presented lissencephaly and brainstem hypoplasia with associated intellectual disability (9/9) and seizures (9/9).

Seven of these individuals had de novo missense variants within the GAR domain and an eighth had a deletion of several exons also spanning this domain and leading to an in-frame deletion. A further ninth patient had a de novo missense variant in the spectrin repeat domain and was found to have similar features although the brainstem dysplasia was rather subtle.

5 missense variants (4 of which in the GAR domain) and an intragenic deletion are reported in total.

The variants in the GAR domain were predicted to have important effect in the zinc-binding pocket. The spectrin repeat (SR4) is thought to have an important role for the function of MACF1 and further to neuronal migration.

Knockdown of Macf1 in mice has been shown to result in developmental defects similar to the human malformation.

The authors note that several high-confidence loss-of-function mutations are listed in ExAC and as a result this type of variants could be non-pathogenic (or lead to neurodevelopmental disorders with reduced penetrance). Still MACF1 has a pLI of 1.0.

As for the missense variants, the authors suggest either a gain-of-function or dominant negative mechanism.

Caution should be taken when interpreting variants as the ENST00000372915.7 (or MACF1-204) transcript is used for the predicted protein changes, although ENST00000361689.6 or MACF1-203 (corresponding to NM_012090.5) has also been used in some tables or figures.

As a result, this gene can be considered for inclusion in this panel probably as green.
Sources: Literature, Expert Review
Early onset or syndromic epilepsy v0.1095 DPAGT1 Rebecca Foulger Mode of inheritance for gene: DPAGT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1094 DPAGT1 Rebecca Foulger Phenotypes for gene: DPAGT1 were changed from to Congenital disorder of glycosylation, type Ij, 608093
Early onset or syndromic epilepsy v0.1093 DOLK Rebecca Foulger commented on gene: DOLK: Lebfer et al, 2011 (PMID:22242004) say epilepsy was not present in their patients with DOLK variants and dilated cardiomyopathy.
Early onset or syndromic epilepsy v0.1093 DOLK Rebecca Foulger Publications for gene: DOLK were set to 23890587
Early onset or syndromic epilepsy v0.1092 DOLK Rebecca Foulger commented on gene: DOLK: PMID:17273964 (Kranz et al. 2007) report 2 affected first cousins in a consanguineous German family with homozygosity for a 295T-A transversion in the DOLK gene (C99S). For subject GH, seizures due to hypsarrhythmia started at age 7 wk. Subject NB, a first cousin of GH, had no seizures. The authors also report 2 Turkish siblings from consanguineous parents with a 1322A-C transversion in the DOLK gene (Y441S). No epilepsy was mentioned, although death occured age 7 mo and 4 mo.
Early onset or syndromic epilepsy v0.1092 MAP2K2 Ivone Leong Phenotypes for gene: MAP2K2 were changed from to Cardiofaciocutaneous syndrome 4, 615280
Early onset or syndromic epilepsy v0.1091 DOLK Rebecca Foulger Publications for gene: DOLK were set to
Early onset or syndromic epilepsy v0.1090 DOLK Rebecca Foulger commented on gene: DOLK
Early onset or syndromic epilepsy v0.1090 MAP2K1 Ivone Leong Marked gene: MAP2K1 as ready
Early onset or syndromic epilepsy v0.1090 MAP2K1 Ivone Leong Gene: map2k1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1090 MAP2K1 Ivone Leong Classified gene: MAP2K1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1090 MAP2K1 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. Both Omim and Gene2Phenotype confirmed that MAP2K1 is associated with Cardiofaciocutaneous syndrome and seizure is listed as a phenotype by Gene2Phenotype but not OMIM.
A study (PMID: 27862862) reported a proband with a missense variant who has seizures. A large study (PMID: 18039235) examining patients from North America, Australia and UK found that 4 out of 5 patients with different missense variants in MAP2K1 had seizures.
Early onset or syndromic epilepsy v0.1090 MAP2K1 Ivone Leong Gene: map2k1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1089 DOLK Rebecca Foulger Mode of inheritance for gene: DOLK was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1088 DOLK Rebecca Foulger Phenotypes for gene: DOLK were changed from to Congenital disorder of glycosylation, type Im, 610768
Early onset or syndromic epilepsy v0.1087 DNM1L Rebecca Foulger Marked gene: DNM1L as ready
Early onset or syndromic epilepsy v0.1087 DNM1L Rebecca Foulger Gene: dnm1l has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1087 DNM1L Rebecca Foulger Classified gene: DNM1L as Green List (high evidence)
Early onset or syndromic epilepsy v0.1087 DNM1L Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Green rating by Zornitza. At least 3 cases in the literature of unrelated patients with DNM1L variants and seizures (1 in PMID:26604000 and 2 in PMID:27145208).
Early onset or syndromic epilepsy v0.1087 DNM1L Rebecca Foulger Gene: dnm1l has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1086 DNM1L Rebecca Foulger Phenotypes for gene: DNM1L were changed from Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388; refractory epilepsy; refractory focal status epilepticus
Early onset or syndromic epilepsy v0.1085 DNM1L Rebecca Foulger commented on gene: DNM1L
Early onset or syndromic epilepsy v0.1085 DNM1L Rebecca Foulger Publications for gene: DNM1L were set to 26604000
Early onset or syndromic epilepsy v0.1084 MAP2K1 Ivone Leong Publications for gene: MAP2K1 were set to 18039235
Early onset or syndromic epilepsy v0.1083 DNM1L Rebecca Foulger Publications for gene: DNM1L were set to
Early onset or syndromic epilepsy v0.1082 DNM1L Rebecca Foulger Mode of inheritance for gene: DNM1L was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1081 DNM1L Rebecca Foulger Phenotypes for gene: DNM1L were changed from to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388
Early onset or syndromic epilepsy v0.1080 DHCR24 Rebecca Foulger Marked gene: DHCR24 as ready
Early onset or syndromic epilepsy v0.1080 DHCR24 Rebecca Foulger Gene: dhcr24 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1080 DHCR24 Rebecca Foulger Tag watchlist tag was added to gene: DHCR24.
Early onset or syndromic epilepsy v0.1080 DHCR24 Rebecca Foulger commented on gene: DHCR24: Added 'watchlist' tag.
Early onset or syndromic epilepsy v0.1080 DHCR24 Rebecca Foulger Publications for gene: DHCR24 were set to
Early onset or syndromic epilepsy v0.1079 DHCR24 Rebecca Foulger Classified gene: DHCR24 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.1079 DHCR24 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber: Confirmed DD-G2P gene for Desmosterolosis but only 2 families reported so far in the literature with seizures as part of the desmosterolosis phenotype: PMIDs:21559050 and 24961299.
Early onset or syndromic epilepsy v0.1079 DHCR24 Rebecca Foulger Gene: dhcr24 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1078 DHCR24 Rebecca Foulger commented on gene: DHCR24: Epilepsy not reported as part of phenotype in patients from PMID:21671375 (Schaaf et al 2011) and PMID:11519011 (Waterham et al.2001).
Early onset or syndromic epilepsy v0.1078 DHCR24 Rebecca Foulger commented on gene: DHCR24: Dias et al, 2014 report two sisters homozygous for the 571G>A (E191K) DHCR24 variant with syndromic ID and desmosterolosis. Each had transient neonatal seizures. The authors also provide a summary table of 9 patients to-date (2014) with DHCR24 and Desmosterolosis. Only this family and the kindred reported by PMID:21559050 exhibit seizures as part of their phenotype.
Early onset or syndromic epilepsy v0.1078 DHCR24 Rebecca Foulger commented on gene: DHCR24
Early onset or syndromic epilepsy v0.1078 DHCR24 Rebecca Foulger Phenotypes for gene: DHCR24 were changed from to Desmosterolosis, 602398
Early onset or syndromic epilepsy v0.1077 DHCR24 Rebecca Foulger Mode of inheritance for gene: DHCR24 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1076 DENND5A Rebecca Foulger Marked gene: DENND5A as ready
Early onset or syndromic epilepsy v0.1076 DENND5A Rebecca Foulger Gene: dennd5a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1076 DENND5A Rebecca Foulger Classified gene: DENND5A as Green List (high evidence)
Early onset or syndromic epilepsy v0.1076 DENND5A Rebecca Foulger Gene: dennd5a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1075 DENND5A Rebecca Foulger Classified gene: DENND5A as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.1075 DENND5A Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Although only Probable confidence level in DD-G2P for EPILEPTIC ENCEPHALOPATHY, there are suffcient cases from PMIDs 27866705 and 27431290 (5 individuals from 4 unrelated families) to support gene:disease association and diagnostic rating.
Early onset or syndromic epilepsy v0.1075 DENND5A Rebecca Foulger Gene: dennd5a has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1074 DENND5A Rebecca Foulger Publications for gene: DENND5A were set to
Early onset or syndromic epilepsy v0.1073 DENND5A Rebecca Foulger Mode of inheritance for gene: DENND5A was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1072 DENND5A Rebecca Foulger commented on gene: DENND5A
Early onset or syndromic epilepsy v0.1072 DENND5A Rebecca Foulger Phenotypes for gene: DENND5A were changed from to Epileptic encephalopathy, early infantile, 49, 617281
Early onset or syndromic epilepsy v0.1071 DDX3X Rebecca Foulger Marked gene: DDX3X as ready
Early onset or syndromic epilepsy v0.1071 DDX3X Rebecca Foulger Gene: ddx3x has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1071 DDX3X Rebecca Foulger Added comment: Comment on mode of inheritance: OMIM and Gene2Phenotype list MOI as both XLR and XLD.
Early onset or syndromic epilepsy v0.1071 DDX3X Rebecca Foulger Mode of inheritance for gene: DDX3X was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to 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 v0.1070 DDX3X Rebecca Foulger Classified gene: DDX3X as Green List (high evidence)
Early onset or syndromic epilepsy v0.1070 DDX3X Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Confirmed DD-G2P for X-linked intellectual disability. MIM:300958 disease includes seizures in some patients. 6 females in PMID:26235985 with 6 different DDX3X variants showed seizures (16%). Therefore sufficient cases for diagnostic rating.
Early onset or syndromic epilepsy v0.1070 DDX3X Rebecca Foulger Gene: ddx3x has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1069 DDX3X Rebecca Foulger Mode of inheritance for gene: DDX3X was changed from to 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 v0.1068 DDX3X Rebecca Foulger commented on gene: DDX3X
Early onset or syndromic epilepsy v0.1068 DDX3X Rebecca Foulger Phenotypes for gene: DDX3X were changed from to Mental retardation, X-linked 102, 300958
Early onset or syndromic epilepsy v0.1067 PLAA Eleanor Williams Marked gene: PLAA as ready
Early onset or syndromic epilepsy v0.1067 PLAA Eleanor Williams Added comment: Comment when marking as ready: Sufficient cases for disease association, >3 cases with seizures
Early onset or syndromic epilepsy v0.1067 PLAA Eleanor Williams Gene: plaa has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1067 PLAA Eleanor Williams Phenotypes for gene: PLAA were changed from to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 617527; Lethal Infantile Epileptic Encephalopathy
Early onset or syndromic epilepsy v0.1066 PLAA Eleanor Williams Publications for gene: PLAA were set to
Early onset or syndromic epilepsy v0.1065 DBT Rebecca Foulger Phenotypes for gene: DBT were changed from to Maple syrup urine disease, type II, 248600
Early onset or syndromic epilepsy v0.1064 PLAA Eleanor Williams Mode of inheritance for gene: PLAA was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1063 PLAA Eleanor Williams Classified gene: PLAA as Green List (high evidence)
Early onset or syndromic epilepsy v0.1063 PLAA Eleanor Williams Added comment: Comment on list classification: 3 variants found in 5 families (but two families likely to have common ancestral haplotype). Seizures reported in all families.
Early onset or syndromic epilepsy v0.1063 PLAA Eleanor Williams Gene: plaa has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1062 HEXA Ivone Leong commented on gene: HEXA: Tay-Sachs disease is rare in the general population but has increased frequency in Ashkenazi Jews. Many of the papers do not specify whether patients have seizures/epilpsy and many report on the patient's phenotype as classic infantile (seizures can be a symptom), juvenile or adult late-onset (seizures can be a symptom), which may or may not necessarily mean patients have seizures. I have only included studies that mention seizures/epilepsy specifically.
Three studies have reported 3 patients with different variants in HEXA gene who have seizures (PMID: 30006889, 21937992, 7551830). PMID: 14972682 describe a mouse model of HEXA which also exhibited seizure/epilpsy phenotype.
Early onset or syndromic epilepsy v0.1062 PLAA Eleanor Williams commented on gene: PLAA
Early onset or syndromic epilepsy v0.1062 DBT Rebecca Foulger Mode of inheritance for gene: DBT was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1061 HEXA Ivone Leong Publications for gene: HEXA were set to
Early onset or syndromic epilepsy v0.1060 GABRB2 Louise Daugherty Marked gene: GABRB2 as ready
Early onset or syndromic epilepsy v0.1060 GABRB2 Louise Daugherty Gene: gabrb2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1060 PHACTR1 Konstantinos Varvagiannis gene: PHACTR1 was added
gene: PHACTR1 was added to Genetic epilepsy syndromes. Sources: Literature,Expert Review
Mode of inheritance for gene: PHACTR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHACTR1 were set to 30256902; 23033978; 28135719
Phenotypes for gene: PHACTR1 were set to Global developmental delay; Intellectual disability; Seizures
Penetrance for gene: PHACTR1 were set to unknown
Review for gene: PHACTR1 was set to GREEN
Added comment: PMID: 30256902 (Hamada et al., 2018) reports on the phenotype of 2 unrelated individuals with de novo missense variants in PHACTR1. Both had a diagnosis of West syndrome (infantile spasms and intellectual disability).

As the authors note, 3 individuals with missense variants in this gene (in 2 of whom as a de novo occurrence) were previously identified :
- In PMID: 23033978 (de Ligt et al., 2012) one patient with ID and epilepsy and a de novo missense variant.
- In PMID: 28135719 (DDD study in 2017) one individual with developmental disorder and a further de novo missense SNV.
- PMID: 27457812 (Riazuddin et al., 2017) is an exome sequencing study for intellectual disability. (NB. In the supplement of this study, the consanguineous parents of the affected individuals appear to be heterozygous for this variant but the affected children non-carriers).

Extensive functional studies for the 2 novel as the 2 previously reported variants (from PMIDs: 23033978, 28135719) support a dominant negative effect for all 4 variants.

One of these variants (reported by de Ligt al.) for which pathogenicity is suggested has however been reported 4 times in gnomAD. The authors discuss the possibility of reduced penetrance and/or other phenotypes in the individuals from gnomAD.

Although all the variants studied appear to have a dominant negative effect, Phactr1-knockdown neurons seem to display aberrant migration and morphological phenotype. As a result, the eventual effect of haploinsufficiency probably needs to be further clarified. (Still PHACTR1 has a pLI score of 0.66 in ExAC).

At least 3 individuals appeared to have epilepsy (as this information is not available for the DDD participant).

As a result, this gene can be considered for inclusion in this panel as green (or amber).
Sources: Literature, Expert Review
Early onset or syndromic epilepsy v0.1060 HCFC1 Ivone Leong Publications for gene: HCFC1 were set to 24011988; 23000143; 25740848
Early onset or syndromic epilepsy v0.1059 PIK3CA Eleanor Williams Marked gene: PIK3CA as ready
Early onset or syndromic epilepsy v0.1059 PIK3CA Eleanor Williams Added comment: Comment when marking as ready: Sufficient cases
Early onset or syndromic epilepsy v0.1059 PIK3CA Eleanor Williams Gene: pik3ca has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1059 PIK3CA Eleanor Williams Classified gene: PIK3CA as Green List (high evidence)
Early onset or syndromic epilepsy v0.1059 PIK3CA Eleanor Williams Added comment: Comment on list classification: > 3 cases of variants in this gene associated with phenotype, and with seizures
Early onset or syndromic epilepsy v0.1059 PIK3CA Eleanor Williams Gene: pik3ca has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1058 PIK3CA Eleanor Williams Phenotypes for gene: PIK3CA were changed from to Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501
Early onset or syndromic epilepsy v0.1057 PIK3CA Eleanor Williams Publications for gene: PIK3CA were set to
Early onset or syndromic epilepsy v0.1056 PIK3CA Eleanor Williams Added comment: Comment on mode of pathogenicity: Gain of function
Early onset or syndromic epilepsy v0.1056 PIK3CA Eleanor Williams Mode of pathogenicity for gene: PIK3CA was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Early onset or syndromic epilepsy v0.1055 GABRB2 Louise Daugherty Marked gene: GABRB2 as ready
Early onset or syndromic epilepsy v0.1055 GABRB2 Louise Daugherty Gene: gabrb2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1055 GABRB2 Louise Daugherty Classified gene: GABRB2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1055 GABRB2 Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association
Early onset or syndromic epilepsy v0.1055 GABRB2 Louise Daugherty Gene: gabrb2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1054 GABRB2 Louise Daugherty Mode of inheritance for gene: GABRB2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.1053 GABRB2 Louise Daugherty Added comment: Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green. Hamdan et al. (2017) PMID 29100083 reported 3 unrelated cases with de novo missense variants in GABRB2 who had developmental and epileptic encephalopathy. Srivastava et al. (2014) PMID 25124326 . Ishii et al. (2017) PMID: 27789573 describes a 12-year old girl with intellectual disability and epilepsy due to another de novo missense variant in GABRB2 epileptic seizures. Ishii et al. (2017) PMID 27789573 describes a patient with early myoclonic encephalopathy and severe psycomotor delay, due to a de novo heterozygous missense mutation in GABRB2.
Early onset or syndromic epilepsy v0.1053 GABRB2 Louise Daugherty Publications for gene: GABRB2 were set to
Early onset or syndromic epilepsy v0.1052 GABRB2 Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel
Early onset or syndromic epilepsy v0.1052 GABRB2 Louise Daugherty Phenotypes for gene: GABRB2 were changed from to Epileptic encephalopathy, infantile or early childhood, 2, 617829
Early onset or syndromic epilepsy v0.1051 GALC Louise Daugherty Marked gene: GALC as ready
Early onset or syndromic epilepsy v0.1051 GALC Louise Daugherty Gene: galc has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1051 GALC Louise Daugherty Classified gene: GALC as Green List (high evidence)
Early onset or syndromic epilepsy v0.1051 GALC Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association
Early onset or syndromic epilepsy v0.1051 GALC Louise Daugherty Gene: galc has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1050 PTS Sarah Leigh Classified gene: PTS as Red List (low evidence)
Early onset or syndromic epilepsy v0.1050 PTS Sarah Leigh Added comment: Comment on list classification: Although the phenotype in OMIM and Gen2Phen gene. However, unable to find reports of seizures in variant carriers.
Early onset or syndromic epilepsy v0.1050 PTS Sarah Leigh Gene: pts has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.1049 GALC Louise Daugherty Added comment: Comment on publications: Added publications to support upgrading of the gene to Green
Early onset or syndromic epilepsy v0.1049 GALC Louise Daugherty Publications for gene: GALC were set to
Early onset or syndromic epilepsy v0.1048 GALC Louise Daugherty Added comment: Comment on mode of inheritance: changed MOI from external clinical review and publications
Early onset or syndromic epilepsy v0.1048 GALC Louise Daugherty Mode of inheritance for gene: GALC was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1047 GALC Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel
Early onset or syndromic epilepsy v0.1047 GALC Louise Daugherty Phenotypes for gene: GALC were changed from to Krabbe disease, 245200; seizures; CALC deficiency; Galactosylceramide beta-galactosidase deficiency
Early onset or syndromic epilepsy v0.1046 GAMT Louise Daugherty Marked gene: GAMT as ready
Early onset or syndromic epilepsy v0.1046 GAMT Louise Daugherty Gene: gamt has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1046 PIK3CA Eleanor Williams Added comment: Comment on mode of inheritance: Note somatic mosiacism
Early onset or syndromic epilepsy v0.1046 PIK3CA Eleanor Williams Mode of inheritance for gene: PIK3CA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.1045 PIK3CA Eleanor Williams Tag mosaicism tag was added to gene: PIK3CA.
Tag somatic tag was added to gene: PIK3CA.
Early onset or syndromic epilepsy v0.1045 PIK3CA Eleanor Williams commented on gene: PIK3CA
Early onset or syndromic epilepsy v0.1045 KCNQ5 Ivone Leong Classified gene: KCNQ5 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1045 KCNQ5 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. Have checked with Eleanor Williams (Genomic England) that two probands with different variants who have the same ethnic background is accepted as two separate pieces of evidence.
Early onset or syndromic epilepsy v0.1045 KCNQ5 Ivone Leong Gene: kcnq5 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1044 GAMT Louise Daugherty Added comment: Comment on phenotypes: added synonyms
Early onset or syndromic epilepsy v0.1044 GAMT Louise Daugherty Phenotypes for gene: GAMT were changed from Cerebral creatine deficiency syndrome 2, 612736; Seizures; Deficiency of guanidinoacetate methyltransferase to Cerebral creatine deficiency syndrome 2, 612736; Seizures; Deficiency of guanidinoacetate methyltransferase; GAMT deficiency
Early onset or syndromic epilepsy v0.1043 GAMT Louise Daugherty Publications for gene: GAMT were set to 15651030; 17101918; 15108290; 19027335
Early onset or syndromic epilepsy v0.1042 GAMT Louise Daugherty Classified gene: GAMT as Green List (high evidence)
Early onset or syndromic epilepsy v0.1042 GAMT Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association
Early onset or syndromic epilepsy v0.1042 GAMT Louise Daugherty Gene: gamt has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1041 GAMT Louise Daugherty Added comment: Comment on publications: Added publications s to support upgrading of the gene to Green
Early onset or syndromic epilepsy v0.1041 GAMT Louise Daugherty Publications for gene: GAMT were set to
Early onset or syndromic epilepsy v0.1040 MAP2K1 Ivone Leong Publications for gene: MAP2K1 were set to
Early onset or syndromic epilepsy v0.1039 GAMT Louise Daugherty Phenotypes for gene: GAMT were changed from Cerebral creatine deficiency syndrome 2, 612736; Seizures to Cerebral creatine deficiency syndrome 2, 612736; Seizures; Deficiency of guanidinoacetate methyltransferase
Early onset or syndromic epilepsy v0.1038 GAMT Louise Daugherty Added comment: Comment on mode of inheritance: Added MOI from external clinical review and publications
Early onset or syndromic epilepsy v0.1038 GAMT Louise Daugherty Mode of inheritance for gene: GAMT was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1037 GAMT Louise Daugherty Added comment: Comment on phenotypes: Not added the expert review phenotype Krabbe disease as it related to the previously reviewed gene GALC. Cerebral creatine deficiency syndrome 2, 612736 is the disorder associated to variants of this gene, and is relevant for inclusion on the Genetic Epilepsy Syndromes panel
Early onset or syndromic epilepsy v0.1037 GAMT Louise Daugherty Phenotypes for gene: GAMT were changed from to Cerebral creatine deficiency syndrome 2, 612736; Seizures
Early onset or syndromic epilepsy v0.1036 MAP2K1 Ivone Leong Mode of inheritance for gene: MAP2K1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.1035 MAP2K1 Ivone Leong Phenotypes for gene: MAP2K1 were changed from to Cardiofaciocutaneous syndrome 3, 615279
Early onset or syndromic epilepsy v0.1034 PIGW Eleanor Williams Marked gene: PIGW as ready
Early onset or syndromic epilepsy v0.1034 PIGW Eleanor Williams Added comment: Comment when marking as ready: Sufficient cases to make green
Early onset or syndromic epilepsy v0.1034 PIGW Eleanor Williams Gene: pigw has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1034 PIGW Eleanor Williams Phenotypes for gene: PIGW were changed from to Glycosylphosphatidylinositol biosynthesis defect 11, 616025; HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5
Early onset or syndromic epilepsy v0.1033 PIGW Eleanor Williams Publications for gene: PIGW were set to 24367057; 27626616; 30078644
Early onset or syndromic epilepsy v0.1032 PIGW Eleanor Williams Publications for gene: PIGW were set to
Early onset or syndromic epilepsy v0.1031 LIAS Ivone Leong Marked gene: LIAS as ready
Early onset or syndromic epilepsy v0.1031 LIAS Ivone Leong Gene: lias has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1031 LIAS Ivone Leong Classified gene: LIAS as Green List (high evidence)
Early onset or syndromic epilepsy v0.1031 LIAS Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. Phenotype confirmed by both OMIM and Gene2Phenotype.

There are only 4 reported cases of this disease in 3 papers (PMID: 24334290, 22152680, 26108146). Of the three cases, all patients (2 of Turkish descent and 1 of Somali descent) have different variants in the LIAS gene and they all have seizures (PMID: 24334290, 22152680).
Early onset or syndromic epilepsy v0.1031 LIAS Ivone Leong Gene: lias has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1030 PIGW Eleanor Williams Mode of inheritance for gene: PIGW was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1029 PIGW Eleanor Williams Classified gene: PIGW as Green List (high evidence)
Early onset or syndromic epilepsy v0.1029 PIGW Eleanor Williams Added comment: Comment on list classification: 3 cases/families reported, all with seizures
Early onset or syndromic epilepsy v0.1029 PIGW Eleanor Williams Gene: pigw has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1028 PIGW Eleanor Williams commented on gene: PIGW
Early onset or syndromic epilepsy v0.1028 PIGO Eleanor Williams Marked gene: PIGO as ready
Early onset or syndromic epilepsy v0.1028 PIGO Eleanor Williams Added comment: Comment when marking as ready: Sufficient cases with compound heterozygous mutations in PIGO and 3 cases with seizures.
Early onset or syndromic epilepsy v0.1028 PIGO Eleanor Williams Gene: pigo has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1028 PIGO Eleanor Williams Publications for gene: PIGO were set to 22683086; 24049131; 24417746; 28900819
Early onset or syndromic epilepsy v0.1027 PIGO Eleanor Williams Phenotypes for gene: PIGO were changed from to Hyperphosphatasia with mental retardation syndrome 2, 614749
Early onset or syndromic epilepsy v0.1026 PIGO Eleanor Williams Added comment: Comment on publications: Further cases reported in PMIDs: 28900819 and 28337824
Early onset or syndromic epilepsy v0.1026 PIGO Eleanor Williams Publications for gene: PIGO were set to
Early onset or syndromic epilepsy v0.1025 PIGO Eleanor Williams Mode of inheritance for gene: PIGO was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1024 PIGO Eleanor Williams Classified gene: PIGO as Green List (high evidence)
Early onset or syndromic epilepsy v0.1024 PIGO Eleanor Williams Added comment: Comment on list classification: Sufficient cases with compound heterogzyous mutations in PIGO and 3 cases with seizures.
Early onset or syndromic epilepsy v0.1024 PIGO Eleanor Williams Gene: pigo has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1023 PIGO Eleanor Williams commented on gene: PIGO
Early onset or syndromic epilepsy v0.1023 LARGE1 Ivone Leong Marked gene: LARGE1 as ready
Early onset or syndromic epilepsy v0.1023 LARGE1 Ivone Leong Gene: large1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1023 LARGE1 Ivone Leong Classified gene: LARGE1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.1023 LARGE1 Ivone Leong Added comment: Comment on list classification: Phenotype confirmed by both OMIM and Gene2Phenotype. However, there is only one reported case of a patient with mutations in LARGE1 who also have seizures (PMID: 24709677). Therefore not enough evidence to promote to green status.
Early onset or syndromic epilepsy v0.1023 LARGE1 Ivone Leong Gene: large1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1022 LARGE1 Ivone Leong Publications for gene: LARGE1 were set to
Early onset or syndromic epilepsy v0.1021 PHGDH Eleanor Williams Marked gene: PHGDH as ready
Early onset or syndromic epilepsy v0.1021 PHGDH Eleanor Williams Added comment: Comment when marking as ready: Sufficient cases reported with seizures.
Early onset or syndromic epilepsy v0.1021 PHGDH Eleanor Williams Gene: phgdh has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1021 PHGDH Eleanor Williams Phenotypes for gene: PHGDH were changed from to Phosphoglycerate dehydrogenase deficiency 601815
Early onset or syndromic epilepsy v0.1020 PHGDH Eleanor Williams Publications for gene: PHGDH were set to
Early onset or syndromic epilepsy v0.1019 PHGDH Eleanor Williams Mode of inheritance for gene: PHGDH was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1018 PHGDH Eleanor Williams Classified gene: PHGDH as Green List (high evidence)
Early onset or syndromic epilepsy v0.1018 PHGDH Eleanor Williams Added comment: Comment on list classification: More than 3 variants associated with the disorder. Patients from 7 families present with seizures.
Early onset or syndromic epilepsy v0.1018 PHGDH Eleanor Williams Gene: phgdh has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1017 PHGDH Eleanor Williams commented on gene: PHGDH
Early onset or syndromic epilepsy v0.1017 PDHX Eleanor Williams Marked gene: PDHX as ready
Early onset or syndromic epilepsy v0.1017 PDHX Eleanor Williams Added comment: Comment when marking as ready: Sufficient variants to associate with disorder. At least 3 cases where seizures are part of the phenotype.
Early onset or syndromic epilepsy v0.1017 PDHX Eleanor Williams Gene: pdhx has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1017 PDHX Eleanor Williams Phenotypes for gene: PDHX were changed from to Lacticacidemia due to PDX1 deficiency 245349
Early onset or syndromic epilepsy v0.1016 PDHX Eleanor Williams Publications for gene: PDHX were set to
Early onset or syndromic epilepsy v0.1015 PDHX Eleanor Williams Mode of inheritance for gene: PDHX was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1014 PDHX Eleanor Williams Classified gene: PDHX as Green List (high evidence)
Early onset or syndromic epilepsy v0.1014 PDHX Eleanor Williams Added comment: Comment on list classification: Numerous variants in this gene associated with Lacticacidemia are reported. 3 cases where seizures are part of the phenotype.
Early onset or syndromic epilepsy v0.1014 PDHX Eleanor Williams Gene: pdhx has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1013 PDHX Eleanor Williams commented on gene: PDHX
Early onset or syndromic epilepsy v0.1013 GBA Louise Daugherty Marked gene: GBA as ready
Early onset or syndromic epilepsy v0.1013 GBA Louise Daugherty Gene: gba has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1013 PDHA1 Eleanor Williams Marked gene: PDHA1 as ready
Early onset or syndromic epilepsy v0.1013 PDHA1 Eleanor Williams Added comment: Comment when marking as ready: Sufficient cases.
Early onset or syndromic epilepsy v0.1013 PDHA1 Eleanor Williams Gene: pdha1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1013 PDHA1 Eleanor Williams Classified gene: PDHA1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1013 PDHA1 Eleanor Williams Added comment: Comment on list classification: > 3 cases of patients with variants in this gene with Pyruvate dehydrogenase E1-alpha deficiency and with seizures as part of the phenotype.
Early onset or syndromic epilepsy v0.1013 PDHA1 Eleanor Williams Gene: pdha1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1012 GBA Louise Daugherty Classified gene: GBA as Green List (high evidence)
Early onset or syndromic epilepsy v0.1012 GBA Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association
Early onset or syndromic epilepsy v0.1012 GBA Louise Daugherty Gene: gba has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1011 PDHA1 Eleanor Williams Added comment: Comment on mode of inheritance: Heterozygous mutations seen in females showing phenotype.
Early onset or syndromic epilepsy v0.1011 PDHA1 Eleanor Williams Mode of inheritance for gene: PDHA1 was changed from to 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 v0.1010 PDHA1 Eleanor Williams Added comment: Comment on phenotypes: Siezures are listed as part of the phenotype for X-LINKED LEIGH SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES and INTELLECTUAL DISABILTIY in Gene2Phenotype
Early onset or syndromic epilepsy v0.1010 PDHA1 Eleanor Williams Phenotypes for gene: PDHA1 were changed from to Pyruvate dehydrogenase E1-alpha deficiency 312170; X-LINKED LEIGH SYNDROME; PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES; INTELLECTUAL DISABILTIY
Early onset or syndromic epilepsy v0.1009 PDHA1 Eleanor Williams Publications for gene: PDHA1 were set to
Early onset or syndromic epilepsy v0.1008 PDHA1 Eleanor Williams commented on gene: PDHA1
Early onset or syndromic epilepsy v0.1008 GBA Louise Daugherty Publications for gene: GBA were set to 8929950; 15214004; 12838552; 8829654; 8118460
Early onset or syndromic epilepsy v0.1007 LIAS Ivone Leong Mode of inheritance for gene: LIAS was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1006 LIAS Ivone Leong Phenotypes for gene: LIAS were changed from to Hyperglycinemia, lactic acidosis, and seizures, 614462
Early onset or syndromic epilepsy v0.1005 LARGE1 Ivone Leong Mode of inheritance for gene: LARGE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1004 LARGE1 Ivone Leong Phenotypes for gene: LARGE1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840
Early onset or syndromic epilepsy v0.1003 KRAS Ivone Leong Classified gene: KRAS as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.1003 KRAS Ivone Leong Added comment: Comment on list classification: Cardiofaciocutaneous syndrome 2 was confirmed on both OMIM and Gene2Phenotype. One report (PMID: 16474405) found one proband with a missense variant in the KRAS gene that had seizures, and another study (PMID: 21871821) found 2 unrelated Japanese probands with missense mutations who have seizures. There is not enough evidence to promote the gene.
Early onset or syndromic epilepsy v0.1003 KRAS Ivone Leong Gene: kras has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1002 GBA Louise Daugherty Added comment: Comment on publications: Added publications to support upgrading of the gene to Green
Early onset or syndromic epilepsy v0.1002 GBA Louise Daugherty Publications for gene: GBA were set to
Early onset or syndromic epilepsy v0.1001 KRAS Ivone Leong Publications for gene: KRAS were set to
Early onset or syndromic epilepsy v0.1000 KRAS Ivone Leong Added comment: Comment on mode of pathogenicity: Variants cause gain-of-function effects (PMID: 21871821, 23059812).
Early onset or syndromic epilepsy v0.1000 KRAS Ivone Leong Mode of pathogenicity for gene: KRAS was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Early onset or syndromic epilepsy v0.999 GBA Louise Daugherty Added comment: Comment on mode of inheritance: Added MOI from external clinical review and publications
Early onset or syndromic epilepsy v0.999 GBA Louise Daugherty Mode of inheritance for gene: GBA was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.998 GBA Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes suggested from expert review and reviewed literature that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel
Early onset or syndromic epilepsy v0.998 GBA Louise Daugherty Phenotypes for gene: GBA were changed from to Gaucher disease, perinatal lethal, 608013; Gaucher disease, type II, 230900; Gaucher disease, type III, 231000; Gaucher disease, type IIIC, 231005; seizures
Early onset or syndromic epilepsy v0.997 GCH1 Louise Daugherty Marked gene: GCH1 as ready
Early onset or syndromic epilepsy v0.997 GCH1 Louise Daugherty Gene: gch1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.997 GCH1 Louise Daugherty Classified gene: GCH1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.997 GCH1 Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association
Early onset or syndromic epilepsy v0.997 GCH1 Louise Daugherty Gene: gch1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.996 GCH1 Louise Daugherty Mode of inheritance for gene: GCH1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.995 GCH1 Louise Daugherty Added comment: Comment on publications: Added publications to support upgrading of the gene to Green
Early onset or syndromic epilepsy v0.995 GCH1 Louise Daugherty Publications for gene: GCH1 were set to
Early onset or syndromic epilepsy v0.994 PCCB Eleanor Williams Phenotypes for gene: PCCB were changed from to Propionicacidemia 606054
Early onset or syndromic epilepsy v0.993 PCCB Eleanor Williams Publications for gene: PCCB were set to
Early onset or syndromic epilepsy v0.992 PCCB Eleanor Williams commented on gene: PCCB
Early onset or syndromic epilepsy v0.992 PCCB Eleanor Williams Mode of inheritance for gene: PCCB was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.991 GCH1 Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel
Early onset or syndromic epilepsy v0.991 GCH1 Louise Daugherty Phenotypes for gene: GCH1 were changed from to Hyperphenylalaninemia, BH4-deficient, B, 233910; seizures
Early onset or syndromic epilepsy v0.990 PTS Sarah Leigh Classified gene: PTS as Green List (high evidence)
Early onset or syndromic epilepsy v0.990 PTS Sarah Leigh Gene: pts has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.989 PCCB Eleanor Williams commented on gene: PCCB
Early onset or syndromic epilepsy v0.989 PTS Sarah Leigh Phenotypes for gene: PTS were changed from to Hyperphenylalaninemia, BH4-deficient, A, 261640
Early onset or syndromic epilepsy v0.988 PTS Sarah Leigh Publications for gene: PTS were set to
Early onset or syndromic epilepsy v0.987 GFAP Louise Daugherty Marked gene: GFAP as ready
Early onset or syndromic epilepsy v0.987 GFAP Louise Daugherty Gene: gfap has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.987 PTS Sarah Leigh Mode of inheritance for gene: PTS was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.986 GFAP Louise Daugherty Classified gene: GFAP as Green List (high evidence)
Early onset or syndromic epilepsy v0.986 GFAP Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association
Early onset or syndromic epilepsy v0.986 GFAP Louise Daugherty Gene: gfap has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.985 GFAP Louise Daugherty Mode of inheritance for gene: GFAP was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.984 GFAP Louise Daugherty Phenotypes for gene: GFAP were changed from to Alexander disease, 203450; seizures
Early onset or syndromic epilepsy v0.983 GFAP Louise Daugherty Added comment: Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green. From OMIM PMID: 12034785 Gorospe et al. (2002) reported 12 genetically confirmed cases of Alexander disease. Seven of the 12 had onset in infancy (range 2-18 months), with seizures being the most common presenting sign, followed by failure to thrive and delayed motor development.
Early onset or syndromic epilepsy v0.983 GFAP Louise Daugherty Publications for gene: GFAP were set to
Early onset or syndromic epilepsy v0.982 KRAS Ivone Leong Mode of inheritance for gene: KRAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.981 PCCA Eleanor Williams Publications for gene: PCCA were set to 2213454; 25875215; 30014764
Early onset or syndromic epilepsy v0.980 D2HGDH Rebecca Foulger Marked gene: D2HGDH as ready
Early onset or syndromic epilepsy v0.980 D2HGDH Rebecca Foulger Gene: d2hgdh has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.980 D2HGDH Rebecca Foulger Phenotypes for gene: D2HGDH were changed from D-2-hydroxyglutaric aciduria, 600721; generalized tonic-clonic seizures; absence seizures; tonic seizures; tonic-clonic seizures; myoclonic seizures, to D-2-hydroxyglutaric aciduria, 600721; generalized tonic-clonic seizures; absence seizures; tonic seizures; tonic-clonic seizures; myoclonic seizures
Early onset or syndromic epilepsy v0.979 D2HGDH Rebecca Foulger Phenotypes for gene: D2HGDH were changed from D-2-hydroxyglutaric aciduria, 600721 to D-2-hydroxyglutaric aciduria, 600721; generalized tonic-clonic seizures; absence seizures; tonic seizures; tonic-clonic seizures; myoclonic seizures,
Early onset or syndromic epilepsy v0.978 D2HGDH Rebecca Foulger Classified gene: D2HGDH as Green List (high evidence)
Early onset or syndromic epilepsy v0.978 D2HGDH Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green. Green review, and as Zornitza reports, epilepsy is a phenotype of D-2-hydroxyglutaric aciduria. Sufficient unrelated epileptic cases from the literature (2 from PMID:15609246 and 1 from PMID:16037974) to support a diagnostic rating.
Early onset or syndromic epilepsy v0.978 D2HGDH Rebecca Foulger Gene: d2hgdh has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.977 D2HGDH Rebecca Foulger commented on gene: D2HGDH: Struys et al 2005 (PMID:15609246) report two unrelated patients affected with severe D-2-hydroxyglutaric aciduria and disease-causing variants in D2HGDH. Patient one suffered tonic, tonic-clonic, and myoclonic seizures, and was homozygous for missense variant in D2HGDH (c.1331T-->C; p.Val444Ala). Patient 2 presented with generalized tonic-clonic seizures and infantile spasms amongst her symptoms. She was compound heterozygous for a missense mutation (c.440T-->G; p.Ile147Ser) and a splice-site mutation (IVS1-23A-->G) that resulted in a null allele.
Early onset or syndromic epilepsy v0.977 D2HGDH Rebecca Foulger commented on gene: D2HGDH
Early onset or syndromic epilepsy v0.977 PCCA Eleanor Williams Phenotypes for gene: PCCA were changed from to Propionicacidemia 606054
Early onset or syndromic epilepsy v0.976 PCCA Eleanor Williams Publications for gene: PCCA were set to
Early onset or syndromic epilepsy v0.975 PCCA Eleanor Williams Mode of inheritance for gene: PCCA was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.974 PCCA Eleanor Williams commented on gene: PCCA
Early onset or syndromic epilepsy v0.974 GLB1 Louise Daugherty Marked gene: GLB1 as ready
Early onset or syndromic epilepsy v0.974 GLB1 Louise Daugherty Gene: glb1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.974 GLB1 Louise Daugherty Classified gene: GLB1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.974 GLB1 Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association
Early onset or syndromic epilepsy v0.974 GLB1 Louise Daugherty Gene: glb1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.973 GLB1 Louise Daugherty Publications for gene: GLB1 were set to
Early onset or syndromic epilepsy v0.972 UFM1 Konstantinos Varvagiannis reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28931644, 29868776; Phenotypes: Leukodystrophy hypomyelinating 14, 617899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.972 UFM1 Konstantinos Varvagiannis Deleted their review
Early onset or syndromic epilepsy v0.972 UFM1 Konstantinos Varvagiannis gene: UFM1 was added
gene: UFM1 was added to Genetic epilepsy syndromes. Sources: Literature,Expert Review
Mode of inheritance for gene: UFM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: UFM1 were set to 28931644; 29868776
Phenotypes for gene: UFM1 were set to Leukodystrophy hypomyelinating 14, 617899
Penetrance for gene: UFM1 were set to Complete
Review for gene: UFM1 was set to GREEN
Added comment: Biallelic UFM1 mutations cause Leukodystrophy hypomyelinating 14, MIM 617899.

PMID: 28931644 is the first report on 16 individuals from 14 families with shared Roma ethnic background. All subjects were found to harbor a UFM1 promoter 3 basepair deletion in the homozygous state.

All patients demonstrated a severe phenotype including lack of development and severe epileptic encephalopathy while their MRI images demonstrated hypomyelination with atrophy of the basal ganglia and the cerebellum.

The promoter deletion was detected by exome sequencing. Previously a 0.8 Mb homozygous region (encompassing UFM1) was identified to be shared by all the patients in whom a SNP array was performed. Alternative causes, notably TUBB4A mutations and deletions/duplications were excluded. 3 individuals had Sanger sequencing of all coding regions within the homozygous interval to rule out other - eventually missed - variants.

PMID: 29868776 reports 4 additional individuals from 2 consanguineous families (one from Ethiopia, for the other this was not specified). All 4 patients were homozygous for the c.241C>T (NM_016617.3) or p.(Arg81Cys) variant which was shown to be hypomorphic upon functional studies.

The phenotype consisted of developmental delay (4/4 or 20/20 including the patients from the previous report with which comparison is made in table 2 of the article) with microcephaly (4/4 or 20/20) and seizures (4/4 or 16/20) as well as MRI abnormalities. Failure to thrive and/or short stature were also among the most common features.

UFM1 (as well as UFC1 also discussed in the same article) participate in ufmylation, with mutations in other enzymes of the same process (notably UBA5 - gene rated Green in the ID and epilepsy panels) having already been described in neurodevelopmental disorders.

As a result, this gene can be considered for inclusion in this panel as green (or amber).
Sources: Literature, Expert Review
Early onset or syndromic epilepsy v0.972 GLB1 Louise Daugherty Added comment: Comment on phenotypes: Added phenotype suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel
Early onset or syndromic epilepsy v0.972 GLB1 Louise Daugherty Phenotypes for gene: GLB1 were changed from to GM1-gangliosidosis, type II, 230600; seizures
Early onset or syndromic epilepsy v0.971 GLB1 Louise Daugherty Mode of inheritance for gene: GLB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.970 D2HGDH Rebecca Foulger Mode of inheritance for gene: D2HGDH was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.969 D2HGDH Rebecca Foulger Phenotypes for gene: D2HGDH were changed from to D-2-hydroxyglutaric aciduria, 600721
Early onset or syndromic epilepsy v0.968 GLDC Louise Daugherty Marked gene: GLDC as ready
Early onset or syndromic epilepsy v0.968 GLDC Louise Daugherty Gene: gldc has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.968 GLDC Louise Daugherty Classified gene: GLDC as Green List (high evidence)
Early onset or syndromic epilepsy v0.968 GLDC Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association
Early onset or syndromic epilepsy v0.968 GLDC Louise Daugherty Gene: gldc has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.967 GLDC Louise Daugherty Added comment: Comment on publications: Added publications to support upgrading of the gene to Green
Early onset or syndromic epilepsy v0.967 GLDC Louise Daugherty Publications for gene: GLDC were set to
Early onset or syndromic epilepsy v0.966 CTSD Rebecca Foulger Marked gene: CTSD as ready
Early onset or syndromic epilepsy v0.966 CTSD Rebecca Foulger Gene: ctsd has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.966 CTSD Rebecca Foulger Classified gene: CTSD as Green List (high evidence)
Early onset or syndromic epilepsy v0.966 CTSD Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green. Epileptic seizures are an accepted phenotype of CLN10 disease (MIM:610127). Epilepsy reported as part of the symptoms in at least 2 families in literature (PMID:16670177 and PMID:26059544) PLUS animal model of epilepsy (PMID:10995834). Therefore 2 cases + clear animal model is sufficient evidence for diagnostic rating.
Early onset or syndromic epilepsy v0.966 CTSD Rebecca Foulger Gene: ctsd has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.965 CTSD Rebecca Foulger commented on gene: CTSD: PMID:26059544 (Meyer et al 2015) report 2 siblings with CLN10 disease who showed intractable seizures and respiratory insufficiency immediately after birth. A homozygous insertion (c.268_269insC) in exon 3 of the cathepsin D gene was found in both infants.
Early onset or syndromic epilepsy v0.965 CTSD Rebecca Foulger commented on gene: CTSD: Animal mode: CatD-deficient mice develop seizures and progressive retinal atrophy, becoming blind (See PMIDs:10995834 and 16685649).
Early onset or syndromic epilepsy v0.965 CTSD Rebecca Foulger commented on gene: CTSD
Early onset or syndromic epilepsy v0.965 CTSD Rebecca Foulger Publications for gene: CTSD were set to
Early onset or syndromic epilepsy v0.964 KRAS Ivone Leong Phenotypes for gene: KRAS were changed from to Cardiofaciocutaneous syndrome 2, 615278
Early onset or syndromic epilepsy v0.963 KIF5C Ivone Leong Classified gene: KIF5C as Green List (high evidence)
Early onset or syndromic epilepsy v0.963 KIF5C Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. Phenotype is confirmed in both OMIM and Gene2Phenotype.
There are 3 studies (PMID: 23603762, 23033978, 29048727) that have reported, in total, 3 unrelated families (5 patients) who have various missense variants in this gene who have Cortical dysplasia and also seizures.
Early onset or syndromic epilepsy v0.963 KIF5C Ivone Leong Gene: kif5c has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.962 GLDC Louise Daugherty Mode of inheritance for gene: GLDC was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.961 GLDC Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel
Early onset or syndromic epilepsy v0.961 GLDC Louise Daugherty Phenotypes for gene: GLDC were changed from to Glycine encephalopathy, 605899; seizures
Early onset or syndromic epilepsy v0.960 KIF5C Ivone Leong Publications for gene: KIF5C were set to
Early onset or syndromic epilepsy v0.959 GLUD1 Louise Daugherty Marked gene: GLUD1 as ready
Early onset or syndromic epilepsy v0.959 GLUD1 Louise Daugherty Gene: glud1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.959 GLUD1 Louise Daugherty Classified gene: GLUD1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.959 GLUD1 Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association.
Early onset or syndromic epilepsy v0.959 GLUD1 Louise Daugherty Gene: glud1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.958 GLUD1 Louise Daugherty Phenotypes for gene: GLUD1 were changed from Hyperinsulinism-hyperammonemia syndrome, 606762 to Hyperinsulinism-hyperammonemia syndrome, 606762; epilepsy
Early onset or syndromic epilepsy v0.957 GLUD1 Louise Daugherty Publications for gene: GLUD1 were set to 19046187
Early onset or syndromic epilepsy v0.956 CTSD Rebecca Foulger Mode of inheritance for gene: CTSD was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.955 CTSD Rebecca Foulger Phenotypes for gene: CTSD were changed from to Ceroid lipofuscinosis, neuronal, 10, 610127
Early onset or syndromic epilepsy v0.954 GLUL Louise Daugherty Marked gene: GLUL as ready
Early onset or syndromic epilepsy v0.954 GLUL Louise Daugherty Gene: glul has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.954 GLUL Louise Daugherty Added comment: Comment on publications: Added publications to support upgrading of the gene to Green
Early onset or syndromic epilepsy v0.954 GLUL Louise Daugherty Publications for gene: GLUL were set to
Early onset or syndromic epilepsy v0.953 GLUL Louise Daugherty Classified gene: GLUL as Green List (high evidence)
Early onset or syndromic epilepsy v0.953 GLUL Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association.
Early onset or syndromic epilepsy v0.953 GLUL Louise Daugherty Gene: glul has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.952 KIF5C Ivone Leong Mode of inheritance for gene: KIF5C was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.951 KIF5C Ivone Leong Phenotypes for gene: KIF5C were changed from to Cortical dysplasia, complex, with other brain malformations 2, 615282
Early onset or syndromic epilepsy v0.950 KCTD3 Ivone Leong Marked gene: KCTD3 as ready
Early onset or syndromic epilepsy v0.950 KCTD3 Ivone Leong Gene: kctd3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.950 KCTD3 Ivone Leong Classified gene: KCTD3 as Green List (high evidence)
Early onset or syndromic epilepsy v0.950 KCTD3 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. No phenotypes are associated with this gene OMIM or Gene2Phenotype.
One study (PMID: 29406573) reported various mutations in this gene for 7 probands from 4 consanguineous families who all have epilepsy. The families are from the same geographical location. The study did show that the variants segregated with the phenotype. Two other large (PMID: 27848944, 25558065) screening studies reported 3 probands with frameshift variants in this gene who have epilepsy.
Early onset or syndromic epilepsy v0.950 KCTD3 Ivone Leong Gene: kctd3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.949 GLUD1 Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel
Early onset or syndromic epilepsy v0.949 GLUD1 Louise Daugherty Phenotypes for gene: GLUD1 were changed from to Hyperinsulinism-hyperammonemia syndrome, 606762
Early onset or syndromic epilepsy v0.948 GLUD1 Louise Daugherty Added comment: Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Early onset or syndromic epilepsy v0.948 GLUD1 Louise Daugherty Publications for gene: GLUD1 were set to
Early onset or syndromic epilepsy v0.947 GLUD1 Louise Daugherty Added comment: Comment on mode of inheritance: Changed MOI from external clinical review and publications
Early onset or syndromic epilepsy v0.947 GLUD1 Louise Daugherty Mode of inheritance for gene: GLUD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.946 KCTD3 Ivone Leong Phenotypes for gene: KCTD3 were changed from to No OMIM number; Epileptic encephalopathy
Early onset or syndromic epilepsy v0.945 KCTD3 Ivone Leong Publications for gene: KCTD3 were set to
Early onset or syndromic epilepsy v0.944 KCTD3 Ivone Leong Mode of inheritance for gene: KCTD3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.943 UFC1 Konstantinos Varvagiannis gene: UFC1 was added
gene: UFC1 was added to Genetic epilepsy syndromes. Sources: Literature,Expert Review
Mode of inheritance for gene: UFC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UFC1 were set to 29868776
Phenotypes for gene: UFC1 were set to Neurodevelopmental disorder with spasticity and poor growth, 618076
Penetrance for gene: UFC1 were set to Complete
Review for gene: UFC1 was set to GREEN
Added comment: Biallelic UFC1 mutations cause Neurodevelopmental disorder with spasticity and poor growth, MIM 618076.

PMID: 29868776 describes 7 individuals (most) born to consanguineous Saudi families (in one case the parents were not consanguineous but originated from the same tribe) as well as a further individual born to distantly related Swiss parents. One of these patients was previously briefly published by the same authors (PMID: 27431290).

The phenotype consisted of developmental delay (8/8 - usually profound), failure to thrive (8/8), short stature and microcephaly (both observed in 7/8), seizures (4/8) and variable brain MRI anomalies in some of these subjects.

Overall, two UFC1 missense variants are reported [NM_016406.3:c.317C>T or p.(Thr106Ile) and c.68G>A or p.(Arg23Gln) the former in the Saudi individuals]. Functional studies demonstrated the hypomorphic nature of the variants.

UFC1 (as well as UFM1 also discussed in the same article) participate in ufmylation, with mutations in other enzymes of the same process (notably UBA5 - gene rated Green in the ID and epilepsy panels) having already been described in neurodevelopmental disorders.

Epilepsy was a feature in 50% (4/8) of the individuals reported.

As a result this gene can be considered for inclusion in the epilepsy panel as green (or amber).
Sources: Literature, Expert Review
Early onset or syndromic epilepsy v0.943 KCNQ5 Ivone Leong Marked gene: KCNQ5 as ready
Early onset or syndromic epilepsy v0.943 KCNQ5 Ivone Leong Added comment: Comment when marking as ready: Phenotype conformed on OMIM and Gene2Phenotype. KCNQ5 is a green gene on the Intellectual disability panel.

As stated by Zornitza Stark (Australian Genomics), the original paper (PMID: 28669405) describes 2 of 4 patients with variants in this gene who have seizures (both are are South East Asian decent). Another paper (PMID: 30359776) describes a patient with an intragenic duplication variant in this gene who has seizures. However, as there's just not quit nough evidence I have put the Watchlist tag on.
Early onset or syndromic epilepsy v0.943 KCNQ5 Ivone Leong Gene: kcnq5 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.943 KCNQ5 Ivone Leong Tag watchlist tag was added to gene: KCNQ5.
Early onset or syndromic epilepsy v0.943 CSNK2B Rebecca Foulger Marked gene: CSNK2B as ready
Early onset or syndromic epilepsy v0.943 CSNK2B Rebecca Foulger Added comment: Comment when marking as ready: Marked as Ready: November 19th 2018.
Early onset or syndromic epilepsy v0.943 CSNK2B Rebecca Foulger Gene: csnk2b has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.943 CSNK2B Rebecca Foulger commented on gene: CSNK2B: Added watchlist tag.
Early onset or syndromic epilepsy v0.943 CSNK2B Rebecca Foulger Tag watchlist tag was added to gene: CSNK2B.
Early onset or syndromic epilepsy v0.943 CSNK2B Rebecca Foulger Classified gene: CSNK2B as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.943 CSNK2B Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber: As summarised by Zornitza, currently 2 epileptic patients with de novo CSNK2B variants (PMID:28762608 and PMID:28585349). The third patient was reported with intellectual disability but not epilepsy. At least one further epileptic case required for diagnostic rating.
Early onset or syndromic epilepsy v0.943 CSNK2B Rebecca Foulger Gene: csnk2b has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.942 CSNK2B Rebecca Foulger commented on gene: CSNK2B
Early onset or syndromic epilepsy v0.942 CSNK2B Rebecca Foulger Phenotypes for gene: CSNK2B were changed from to Myoclonic epilepsy and intellectual disability
Early onset or syndromic epilepsy v0.941 CSNK2B Rebecca Foulger Publications for gene: CSNK2B were set to
Early onset or syndromic epilepsy v0.940 CSNK2B Rebecca Foulger Mode of inheritance for gene: CSNK2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.939 KCNQ5 Ivone Leong Publications for gene: KCNQ5 were set to
Early onset or syndromic epilepsy v0.938 KCNQ5 Ivone Leong Mode of inheritance for gene: KCNQ5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.937 KCNQ5 Ivone Leong Phenotypes for gene: KCNQ5 were changed from to Mental retardation, autosomal dominant 46, 617601
Early onset or syndromic epilepsy v0.936 KCNJ11 Ivone Leong Classified gene: KCNJ11 as Green List (high evidence)
Early onset or syndromic epilepsy v0.936 KCNJ11 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. Conformed for Diabetes, permanent neonatal, with or without neurologic features (PNDM) on OMIM but not on Gene2Phenotype, which lists only Diabetes mellitus, kcnj11-related transient neonatal. It should be noted that in the OMIM (606176), developmental delay, epilepsy, and neonatal diabetes (DEND) is also included, which is a more severe form of the disease.
KCNJ11 is also a green gene in the Intellectual disability gene panel.
There are 4 studies (PMID: 25678012,
16670688,16609879,27681997) describing, in total, 27 unrelated probands with DEND or PNDM who have seizures.
Early onset or syndromic epilepsy v0.936 KCNJ11 Ivone Leong Gene: kcnj11 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.935 KCNJ11 Ivone Leong Publications for gene: KCNJ11 were set to
Early onset or syndromic epilepsy v0.934 KCNJ11 Ivone Leong Added comment: Comment on mode of pathogenicity: Gain-of-function mutations are responsible for the phenotype (PMID: 17065345).
Early onset or syndromic epilepsy v0.934 KCNJ11 Ivone Leong Mode of pathogenicity for gene: KCNJ11 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Early onset or syndromic epilepsy v0.933 KCNJ11 Ivone Leong Mode of inheritance for gene: KCNJ11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.932 CCDC88A Konstantinos Varvagiannis reviewed gene: CCDC88A: Rating: AMBER; Mode of pathogenicity: None; Publications: 26917597, 30392057; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v0.932 KCNJ11 Ivone Leong Phenotypes for gene: KCNJ11 were changed from Diabetes, permanent neonatal, with or without neurologic features, 606176 to Diabetes, permanent neonatal, with or without neurologic features, 606176; DEND syndrome
Early onset or syndromic epilepsy v0.931 FUT8 Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Intellectual Disability panel
Early onset or syndromic epilepsy v0.931 FUT8 Louise Daugherty Phenotypes for gene: FUT8 were changed from Congenital disorder of glycosylation with defective fucosylation, 618005 to Congenital disorder of glycosylation with defective fucosylation, 618005; Intellectual disability
Early onset or syndromic epilepsy v0.930 KCNJ11 Ivone Leong Phenotypes for gene: KCNJ11 were changed from to Diabetes, permanent neonatal, with or without neurologic features, 606176
Early onset or syndromic epilepsy v0.929 ISPD Ivone Leong Marked gene: ISPD as ready
Early onset or syndromic epilepsy v0.929 ISPD Ivone Leong Added comment: Comment when marking as ready: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 confirmed on OMIM but listed as Walker-Warburg syndrome, which comes under Muscular dystrophy-dystroglycanopathy, on Gene2Phenotype. Only one report of a patient with a large deletion in the ISPD gene having seizures (24120487).
Early onset or syndromic epilepsy v0.929 ISPD Ivone Leong Gene: ispd has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.929 ISPD Ivone Leong Publications for gene: ISPD were set to
Early onset or syndromic epilepsy v0.928 ISPD Ivone Leong Phenotypes for gene: ISPD were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643; Walker-Warburg syndrome
Early onset or syndromic epilepsy v0.927 GNB5 Konstantinos Varvagiannis gene: GNB5 was added
gene: GNB5 was added to Genetic epilepsy syndromes. Sources: Literature,Expert Review
Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNB5 were set to 27523599; 27677260; 28697420; 29368331
Phenotypes for gene: GNB5 were set to Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182
Penetrance for gene: GNB5 were set to Complete
Review for gene: GNB5 was set to GREEN
Added comment: Biallelic GNB5 pathogenic variants cause Intellectual developmental disorder with cardiac arrhythmia (MIM 617173) or language delay and ADHD/cognitive impairment with or without cardiac arrhythmia (MIM 617182).

PMID: 27523599 is the first report on the associated phenotype. A total of 9 individuals from 6 different families (from various ethnic backgrounds) are described.

The common features included hypotonia (noted in 6 out of 9 patients), intellectual disability (9/9 - in 3 cases mild, in 6 severe), heart rate disturbance (9/9 - in most cases sick sinus syndrome), seizures (4/9), ophthalmological problems (nystagmus in 6 out of 7 for whom this information was available) as well as gastric problems (5/8 with G-E reflux).

The 6 variants (summarized in table S1) included : 2 nonsense mutations, 1 synonymous (demonstrated to affect splicing and leading to retention of 25 intronic bp), 2 further splice variants (positions +1 and +3) and a missense one (S81L).

Nonsense mediated decay was the case for the product of the synonymous/splice variant as well as for a stopgain one.

As noted by the authors, individuals homozygous for the S81L variant had a less severe phenotype - among others - with mild degree of intellectual disability.

Functional studies included knockout of gnb5 in zebrafish, which was able to reproduce the human neurological, cardiac and ophthalmological phenotypes.

Alternative causes for these phenotypes (incl. chromosomal or metabolic disorders) were ruled out.

Affected individuals might benefit interventions for their heart rate disturbance as appears to be the case in the article as well as subsequent studies.

PMID: 27677260 describes an extended consanguineous Saudi family with 5 individuals homozygous for the S81L variant. Common features included severe language delay, ADHD, but normal cognition in those available for evaluation. Seizures were not reported. Pathogenicity of the S81L variant is further supported by functional studies.

PMID: 28697420 describes in detail 2 individuals from a large consanguineous pedigree confirmed to be homozygous for a single nucleotide deletion in GNB5. The phenotype included severe DD/ID, seizures, sinus bradycardia with frequent sinus pauses and ophthalmological problems. Sinus arrhythmia and or seizures were documented in several other relatives deceased and unavailable for testing.

PMID: 28327206 reports on 2 subjects previously included in PMID: 27523599.

PMID: 29368331 describes a child with severe developmental delay, nystagmus and sinus arrhythmia necessitating a pacemaker. EEG was abnormal although no frank seizures were observed. The child was compound heterozygous for a novel missense variant (R246Q) as well a 5 basepair deletion.

Epilepsy was a feature in at least 6 individuals reported.

As a result this gene can be considered for inclusion in this panel as green or amber.
Sources: Literature, Expert Review
Early onset or syndromic epilepsy v0.927 ISPD Ivone Leong Mode of inheritance for gene: ISPD was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.926 ISPD Ivone Leong Phenotypes for gene: ISPD were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643
Early onset or syndromic epilepsy v0.925 IKBKG Ivone Leong Marked gene: IKBKG as ready
Early onset or syndromic epilepsy v0.925 IKBKG Ivone Leong Gene: ikbkg has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.925 IKBKG Ivone Leong Publications for gene: IKBKG were set to
Early onset or syndromic epilepsy v0.924 IKBKG Ivone Leong Classified gene: IKBKG as Green List (high evidence)
Early onset or syndromic epilepsy v0.924 IKBKG Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. Incontinentia pigmenti is confirmed by OMIM and Gene2Phenotype. There are >3 unrelated families with a variant in this gene diagnosed with incontinentia pigmenti who have seizures (PMID: 30151858,28794079,24339369). Neurological symptoms (including seizures) are affect ~30% of patients with incontinentia pigmenti (PMID:28870493).
Early onset or syndromic epilepsy v0.924 IKBKG Ivone Leong Gene: ikbkg has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.923 EIF3F Sarah Leigh Marked gene: EIF3F as ready
Early onset or syndromic epilepsy v0.923 EIF3F Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. A single variant (rs141976414, ENSP00000310040.4:p.Phe232Val) has been identified as a homozygote in 9 subjects with intellectual disability and other phenotypic features, 6/9 have seizures. rs141976414 has a frequency of 0.12% in non-Finnish Europeans, however, it is not found as a homozygote in gnomAD (http://gnomad.broadinstitute.org). Supportive functional studies were also provided (PMID 30409806).
Early onset or syndromic epilepsy v0.923 EIF3F Sarah Leigh Gene: eif3f has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.923 EIF3F Sarah Leigh Classified gene: EIF3F as Green List (high evidence)
Early onset or syndromic epilepsy v0.923 EIF3F Sarah Leigh Gene: eif3f has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.922 EIF3F Sarah Leigh Classified gene: EIF3F as Green List (high evidence)
Early onset or syndromic epilepsy v0.922 EIF3F Sarah Leigh Gene: eif3f has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.921 IKBKG Ivone Leong Mode of inheritance for gene: IKBKG was changed from to 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 v0.920 RHOBTB2 Sarah Leigh Marked gene: RHOBTB2 as ready
Early onset or syndromic epilepsy v0.920 RHOBTB2 Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 6 variants identified in 8 unrelated cases. In vitro functional studies suggest that pathogenicity results from increased expression or reduced degradation of the variant peptides in affected individuals (PMID 29276004).
Early onset or syndromic epilepsy v0.920 RHOBTB2 Sarah Leigh Gene: rhobtb2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.920 RHOBTB2 Sarah Leigh Classified gene: RHOBTB2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.920 RHOBTB2 Sarah Leigh Gene: rhobtb2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.919 RHOBTB2 Sarah Leigh Phenotypes for gene: RHOBTB2 were changed from Global developmental delay; Intellectual disability; Seizures; Postnatal microcephaly to Epileptic encephalopathy, early infantile, 64 618004
Early onset or syndromic epilepsy v0.918 FUT8 Sarah Leigh Marked gene: FUT8 as ready
Early onset or syndromic epilepsy v0.918 FUT8 Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in 3 unrelated cases, supportive segregation and in vitro data was also presented.
Early onset or syndromic epilepsy v0.918 FUT8 Sarah Leigh Gene: fut8 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.918 FUT8 Sarah Leigh Classified gene: FUT8 as Green List (high evidence)
Early onset or syndromic epilepsy v0.918 FUT8 Sarah Leigh Gene: fut8 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.917 ATP6V1A Sarah Leigh Marked gene: ATP6V1A as ready
Early onset or syndromic epilepsy v0.917 ATP6V1A Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants were identified in unrelated cases of Epileptic encephalopathy, infantile or early childhood, 3 618012, one variant (c.1045G>A, NM_001690.3, p.D349N) appear give gain of function results in in vitro analysis, whereas the others had loss of function. Two homozygous variants were reported in two unrelated cases of Cutis laxa, autosomal recessive, type IID 617403 who both had seizures as part of their phenotypes.
Early onset or syndromic epilepsy v0.917 ATP6V1A Sarah Leigh Gene: atp6v1a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.917 ATP6V1A Sarah Leigh Added comment: Comment on phenotypes: Monoallelic variants associated with Epileptic encephalopathy, infantile or early childhood, 3 618012 and biallelic variants associated with Cutis laxa, autosomal recessive, type IID 617403. Both phenotypes include seizures.
Early onset or syndromic epilepsy v0.917 ATP6V1A Sarah Leigh Phenotypes for gene: ATP6V1A were changed from # 618012 EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 - IECEE3; # 617403 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID - ARCL2D to Epileptic encephalopathy, infantile or early childhood, 3 618012; Cutis laxa, autosomal recessive, type IID 617403
Early onset or syndromic epilepsy v0.916 ATP6V1A Sarah Leigh Classified gene: ATP6V1A as Green List (high evidence)
Early onset or syndromic epilepsy v0.916 ATP6V1A Sarah Leigh Gene: atp6v1a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.915 ATP1A1 Sarah Leigh Marked gene: ATP1A1 as ready
Early onset or syndromic epilepsy v0.915 ATP1A1 Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. Three heterozygous de novo variants reported in three unrelated cases manifesting with refractory seizures, severe hypomagnesemia and severe intellectual disability. Supportive in vitro studies were also presented.
Early onset or syndromic epilepsy v0.915 ATP1A1 Sarah Leigh Gene: atp1a1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.915 ATP1A1 Sarah Leigh Classified gene: ATP1A1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.915 ATP1A1 Sarah Leigh Gene: atp1a1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.914 EIF3F Konstantinos Varvagiannis gene: EIF3F was added
gene: EIF3F was added to Genetic epilepsy syndromes. Sources: Literature,Expert Review
Mode of inheritance for gene: EIF3F was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF3F were set to 30409806
Phenotypes for gene: EIF3F were set to Intellectual disability; Seizures; Behavioral abnormality; Sensorineural hearing impairment
Penetrance for gene: EIF3F were set to Complete
Review for gene: EIF3F was set to GREEN
Added comment: EIF3F was identified in a recent DDD publication (PMID: 30409806) as a cause of autosomal recessive intellectual disability.

All 9 individuals reported were homozygous for a missense variant (Phe232Val - rs141976414) which has a frequency of 0.12% in non-Finnish Europeans.

Features included intellectual disability (9/9), seizures (6/9), behavioral problems (3/9) and sensorineural hearing loss (3/9). Facial features were not specific.

Extensive functional studies were performed and support pathogenicity of the variant in the homozygous state (reduced protein levels, reduced translation rate in line with the role of EIF3F encoding a subunit for eukaryotic translation initiation factor 3, as well as reduced proliferation rates).

As a result this gene can be considered for inclusion in this panel as green (or amber).
Sources: Literature, Expert Review
Early onset or syndromic epilepsy v0.914 FUT8 Konstantinos Varvagiannis gene: FUT8 was added
gene: FUT8 was added to Genetic epilepsy syndromes. Sources: Literature,Expert Review
Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUT8 were set to 29304374
Phenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation, 618005
Penetrance for gene: FUT8 were set to Complete
Review for gene: FUT8 was set to GREEN
Added comment: PMID: 29304374 reports on 3 unrelated individuals with biallelic pathogenic variants in FUT8.

Two of the patients were born to consanguineous parents and were found to be homozygous for stopgain variants (p.Arg239* in one family and p.Arg315* in the other). A third patient was compound heterozygous for a missense as well as a splice variant.

All three presented with similar phenotype consisting of polyhydramnios (2 out of 3), IUGR and failure to thrive with short stature (3/3), severe developmental delay (3/3) with microcephaly (3/3) and seizures (3/3). Variable respiratory problems were also noted in all.

Western blot demonstrated loss of FUT8 protein expression in one individual homozygous for a stopgain mutation as well as the patient who was compound heterozygous for the missense and the splice variant. The splice variant was further shown to produce a shorter transcript due to lack of exon 9, leading to an in-frame deletion of 59 residues critical for the protein function.

Additional studies confirmed the fucosylation defect compared to controls.

The authors note that while Fut8 knockout mice are born normal, 70% die within the first 3 days due to severe growth retardation and respiratory deficiency (similarly to what is observed in humans, though to a lesser extent).

As a result this gene can be considered for inclusion in this panel probably as green (3 unrelated families, strong additional functional data, consistent phenotype) or amber.
Sources: Literature, Expert Review
Early onset or syndromic epilepsy v0.914 ATP6V1A Konstantinos Varvagiannis gene: ATP6V1A was added
gene: ATP6V1A was added to Genetic epilepsy syndromes. Sources: Literature,Expert Review
Mode of inheritance for gene: ATP6V1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATP6V1A were set to 29668857; 28065471
Phenotypes for gene: ATP6V1A were set to # 618012 EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 - IECEE3; # 617403 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID - ARCL2D
Penetrance for gene: ATP6V1A were set to unknown
Review for gene: ATP6V1A was set to GREEN
Added comment: Heterozygous mutations in ATP6V1A cause Epileptic encephalopathy, infantile or early childhood, type 3 (MIM 618012).

PMID: 29668857 reports 4 individuals from 4 families with de novo pathogenic variants in ATP6V1A. The phenotype was consistent with a developmental encephalopathy with epilepsy.

All patients were found to harbor missense variants. The variants resulted in altered lysosomal homeostasis, abnormal neuritogenesis and synaptic density. However in one of the variants tested (p.Asp100Tyr) pathogenicity was mediated by loss-of-function mechanism while for another (p.Asp349Asn) by gain-of-function mechanism.

Differences in severity were noted, with two variants (incl. Asp100Tyr) being associated with a more severe phenotype and the two other (incl. Asp349Asn) with milder degrees of ID and epilepsy.

Biallelic ATP6V1A mutations cause Cutis laxa type IID (MIM 617403). PMID: 28065471 is the first report on 3 individuals from 3 different families (2 of which were consanguineous). All patients were homozygous for ATP6V1A pathogenic variants. All three presented with hypotonia, one (or possibly two) with developmental delay and two with seizures although the developmental phenotype is not further commented on. (Additional patients described in the article harbored mutations in other genes and were not considered).

As a result, this gene can be considered for inclusion in this panel as green.
Sources: Literature, Expert Review
Early onset or syndromic epilepsy v0.914 ATP1A1 Konstantinos Varvagiannis gene: ATP1A1 was added
gene: ATP1A1 was added to Genetic epilepsy syndromes. Sources: Literature,Expert Review
Mode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP1A1 were set to 30388404
Phenotypes for gene: ATP1A1 were set to Hypomagnesemia; Seizures; Intellectual disability
Penetrance for gene: ATP1A1 were set to unknown
Review for gene: ATP1A1 was set to GREEN
Added comment: PMID: 30388404 reports on 3 subjects from 3 families with de novo pathogenic variants in ATP1A1. All 3 presented with similar phenotype consisting of hypomagnesemia, early onset refractory seizures as well as intellectual disability.

Alternative causes of hypomagnesemia with seizures (eg. due to TRPM6 mutations) were excluded while the phenotype of the 3 patients differed from similar disorder in that hypomagnesemia as well as seizures were not responsive to magnesium supplementation.

Three different missense variants are reported (L302R, G303R, M859R) all as de novo occurences and after confirmation of paternity.

Functional studies were suggestive of loss of the ATPase function, abnormal cation permeabilities as well as reduced level of expression (the latter was significant for at least for 2 of the 3 variants).

Mutations in ATP1A1 have also been reported in patients with Charcot-Marie-Tooth type 2 (CMT2DD - MIM: 618036) although the variants reported to date map seem to cluster within the helical linker region (residues 592 to 608). The young age of the patients with epilepsy and intellectual disability did not allow conclusions on eventual peripheral neuropathy in these individuals.

As a result this gene can be considered for inclusion in this panel as green (or amber).
Sources: Literature, Expert Review
Early onset or syndromic epilepsy v0.914 GLUL Louise Daugherty Added comment: Comment on mode of inheritance: changed MOI from OMIM and publication PMID:16267323
Early onset or syndromic epilepsy v0.914 GLUL Louise Daugherty Mode of inheritance for gene: GLUL was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.913 GLUL Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel
Early onset or syndromic epilepsy v0.913 GLUL Louise Daugherty Phenotypes for gene: GLUL were changed from to Glutamine deficiency, congenital, 610015; seizures
Early onset or syndromic epilepsy v0.912 GM2A Louise Daugherty Marked gene: GM2A as ready
Early onset or syndromic epilepsy v0.912 GM2A Louise Daugherty Gene: gm2a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.912 GM2A Louise Daugherty Classified gene: GM2A as Green List (high evidence)
Early onset or syndromic epilepsy v0.912 GM2A Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases, and external review comment all support gene-disease association.
Early onset or syndromic epilepsy v0.912 GM2A Louise Daugherty Gene: gm2a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.911 GM2A Louise Daugherty Added comment: Comment on publications: Publications added support gene-disease association and rating of this gene to Green.
Early onset or syndromic epilepsy v0.911 GM2A Louise Daugherty Publications for gene: GM2A were set to
Early onset or syndromic epilepsy v0.910 GM2A Louise Daugherty Phenotypes for gene: GM2A were changed from GM2-gangliosidosis, AB variant, 272750; seizures to GM2-gangliosidosis, AB variant, 272750; seizures; Hexosaminidase activator deficiency; Tay-Sachs disease
Early onset or syndromic epilepsy v0.909 GM2A Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel
Early onset or syndromic epilepsy v0.909 GM2A Louise Daugherty Phenotypes for gene: GM2A were changed from to GM2-gangliosidosis, AB variant, 272750; seizures
Early onset or syndromic epilepsy v0.908 GM2A Louise Daugherty Mode of inheritance for gene: GM2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.907 GNB1 Louise Daugherty Marked gene: GNB1 as ready
Early onset or syndromic epilepsy v0.907 GNB1 Louise Daugherty Gene: gnb1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.907 GNB1 Louise Daugherty Classified gene: GNB1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.907 GNB1 Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases (more than 20), and external review comment all support gene-disease association.
Early onset or syndromic epilepsy v0.907 GNB1 Louise Daugherty Gene: gnb1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.906 GNB1 Louise Daugherty Mode of inheritance for gene: GNB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.905 GNB1 Louise Daugherty Publications for gene: GNB1 were set to 27108799; 25529582; 27108799
Early onset or syndromic epilepsy v0.904 GNB1 Louise Daugherty Added comment: Comment on publications: 13 unrelated patients with autosomal dominant mental retardation-42 Petrovski et al. (2016) PMID:27108799 identified 9 different de novo heterozygous missense mutations in the GNB1 gene, the variants were confirmed by Sanger sequencing.
Early onset or syndromic epilepsy v0.904 GNB1 Louise Daugherty Publications for gene: GNB1 were set to
Early onset or syndromic epilepsy v0.903 GNB1 Louise Daugherty Added comment: Comment on phenotypes: correction of the MIMid
Early onset or syndromic epilepsy v0.903 GNB1 Louise Daugherty Phenotypes for gene: GNB1 were changed from Mental retardation, autosomal dominant 42, 614018; seizures to Mental retardation, autosomal dominant 42, 616973; seizures
Early onset or syndromic epilepsy v0.902 GNB1 Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel
Early onset or syndromic epilepsy v0.902 GNB1 Louise Daugherty Phenotypes for gene: GNB1 were changed from to Mental retardation, autosomal dominant 42, 614018; seizures
Early onset or syndromic epilepsy v0.901 GOSR2 Louise Daugherty Marked gene: GOSR2 as ready
Early onset or syndromic epilepsy v0.901 GOSR2 Louise Daugherty Gene: gosr2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.901 GOSR2 Louise Daugherty commented on gene: GOSR2: added founder-effect tag. Even though there is a founder effect in this population, there is further evidence for it being the gene of interest by the fact that there is more than one variant identified so supports a green rating on the current evidence.
Early onset or syndromic epilepsy v0.901 GOSR2 Louise Daugherty Tag founder-effect tag was added to gene: GOSR2.
Early onset or syndromic epilepsy v0.901 GOSR2 Louise Daugherty Classified gene: GOSR2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.901 GOSR2 Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association.
Early onset or syndromic epilepsy v0.901 GOSR2 Louise Daugherty Gene: gosr2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.900 GOSR2 Louise Daugherty edited their review of gene: GOSR2: Added comment: External review notes that there are Corbett et al., 2011 (PMID: 21549339) reported five unrelated individuals reported with bi-allelic variants and denoted a founder effect.
To date, 17 reported patients with GOSR2‐mediated Progressive myoclonic epilepsy have been shown to carry the same homozygous c.430G>T (p.G144W) mutation, the result of a founder effect 21549339, 23449775, 24458321. However, Praschberger et al., (2015) PMID: 30363482 described a 61‐year‐old female patient suffering from progressive myoclonus epilepsy and was found to be compound heterozygous for the known c.430G>T and a novel c.491_493delAGA (p.K164del) GOSR2 mutation.; Changed rating: GREEN
Early onset or syndromic epilepsy v0.900 GOSR2 Louise Daugherty Publications for gene: GOSR2 were set to 21549339; 30363482; 24458321; 27618868
Early onset or syndromic epilepsy v0.899 GOSR2 Louise Daugherty Publications for gene: GOSR2 were set to 21549339; 30363482; 24458321
Early onset or syndromic epilepsy v0.898 GOSR2 Louise Daugherty Added comment: Comment on publications: Added publications suggested from external expert review and additional publications to support upgrading of the gene to Green
Early onset or syndromic epilepsy v0.898 GOSR2 Louise Daugherty Publications for gene: GOSR2 were set to
Early onset or syndromic epilepsy v0.897 GOSR2 Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel
Early onset or syndromic epilepsy v0.897 GOSR2 Louise Daugherty Phenotypes for gene: GOSR2 were changed from to Epilepsy, progressive myoclonic 6, 614018
Early onset or syndromic epilepsy v0.896 GOSR2 Louise Daugherty Added comment: Comment on mode of inheritance: added MOI suggested by external review, confirmed with OMIM/publications
Early onset or syndromic epilepsy v0.896 GOSR2 Louise Daugherty Mode of inheritance for gene: GOSR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.895 Ellen McDonagh Panel name changed from Genetic Epilepsy Syndromes to Genetic epilepsy syndromes
List of related panels changed from Epilepsy Plus;Epilepsy plus other features to Epilepsy Plus; Epilepsy plus other features; Genetic Epilepsy Syndromes
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Early onset or syndromic epilepsy v0.894 IKBKG Ivone Leong Phenotypes for gene: IKBKG were changed from to Incontinentia pigmenti, 308300
Early onset or syndromic epilepsy v0.893 HSPD1 Ivone Leong Marked gene: HSPD1 as ready
Early onset or syndromic epilepsy v0.893 HSPD1 Ivone Leong Added comment: Comment when marking as ready: Leukodystrophy, hypomyelinating, 4 is associated with the gene on OMIM and Gene2Phenotype. However, there are only 2 reported families with variants in this gene. In one large family (PMID:18571143) 6 of 10 affected members have seizures. In another study (PMID:30083362) one patient with a variant in this gene has seizures.
Early onset or syndromic epilepsy v0.893 HSPD1 Ivone Leong Gene: hspd1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.893 HSPD1 Ivone Leong Tag watchlist tag was added to gene: HSPD1.
Early onset or syndromic epilepsy v0.893 HSPD1 Ivone Leong Publications for gene: HSPD1 were set to
Early onset or syndromic epilepsy v0.892 HSPD1 Ivone Leong Mode of inheritance for gene: HSPD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.891 HSPD1 Ivone Leong Phenotypes for gene: HSPD1 were changed from to Leukodystrophy, hypomyelinating, 4, 612233
Early onset or syndromic epilepsy v0.890 HSD17B4 Ivone Leong Marked gene: HSD17B4 as ready
Early onset or syndromic epilepsy v0.890 HSD17B4 Ivone Leong Gene: hsd17b4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.890 HSD17B4 Ivone Leong Classified gene: HSD17B4 as Green List (high evidence)
Early onset or syndromic epilepsy v0.890 HSD17B4 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green as 3+ unrelated patients reported with D-bifunctional protein deficiency have variants in this gene and also have seizures. D-bifunctional protein deficiency is conformed to be associated with this gene on both OMIM and Gene2Phenotype.
Early onset or syndromic epilepsy v0.890 HSD17B4 Ivone Leong Gene: hsd17b4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.889 HSD17B4 Ivone Leong Publications for gene: HSD17B4 were set to 9345094; 9482850; 9915948; 11743515
Early onset or syndromic epilepsy v0.888 HSD17B4 Ivone Leong Publications for gene: HSD17B4 were set to
Early onset or syndromic epilepsy v0.887 HSD17B4 Ivone Leong Mode of inheritance for gene: HSD17B4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.886 HSD17B4 Ivone Leong Phenotypes for gene: HSD17B4 were changed from to D-bifunctional protein deficiency, 261515
Early onset or syndromic epilepsy v0.885 HRAS Ivone Leong Marked gene: HRAS as ready
Early onset or syndromic epilepsy v0.885 HRAS Ivone Leong Gene: hras has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.885 HRAS Ivone Leong Publications for gene: HRAS were set to
Early onset or syndromic epilepsy v0.884 HRAS Ivone Leong Classified gene: HRAS as Green List (high evidence)
Early onset or syndromic epilepsy v0.884 HRAS Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. There are 3+ cases reporting of patients with Costello syndrome who have seizures (PMID: 28337834, 27195699, 26888048, 22926243) and all patients have HRAS heterozygous variants.

It is also confirmed as being associated with Costello syndrome on OMIM and Gene2Phenotype.
Early onset or syndromic epilepsy v0.884 HRAS Ivone Leong Gene: hras has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.883 FKRP Louise Daugherty Added comment: Comment on phenotypes: added phenotype suggested from external reviewer
Early onset or syndromic epilepsy v0.883 FKRP Louise Daugherty Phenotypes for gene: FKRP were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153
Early onset or syndromic epilepsy v0.882 HRAS Ivone Leong Mode of inheritance for gene: HRAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.881 HRAS Ivone Leong Phenotypes for gene: HRAS were changed from Costello syndrome, 218040 to Costello syndrome, 218040; Schimmelpenning-Feuerstein-Mims syndrome, 218040
Early onset or syndromic epilepsy v0.880 HRAS Ivone Leong Phenotypes for gene: HRAS were changed from to Costello syndrome, 218040
Early onset or syndromic epilepsy v0.879 HEXA Ivone Leong Marked gene: HEXA as ready
Early onset or syndromic epilepsy v0.879 HEXA Ivone Leong Gene: hexa has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.879 HEXA Ivone Leong Classified gene: HEXA as Green List (high evidence)
Early onset or syndromic epilepsy v0.879 HEXA Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green as seizures is a phenotype of
Tay-Sachs disease in accordance with the review by Zornitza Stark (Australian Genomics). Tay-Sachs disease is confirmed to be associated with this gene by both OMIM and Gene2Phenotype.
Early onset or syndromic epilepsy v0.879 HEXA Ivone Leong Gene: hexa has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.878 HEXA Ivone Leong Mode of inheritance for gene: HEXA was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.877 HEXA Ivone Leong Mode of inheritance for gene: HEXA was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.876 HEXA Ivone Leong Phenotypes for gene: HEXA were changed from to Tay-Sachs disease, 272800
Early onset or syndromic epilepsy v0.875 HEPACAM Ivone Leong Marked gene: HEPACAM as ready
Early onset or syndromic epilepsy v0.875 HEPACAM Ivone Leong Gene: hepacam has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.875 HEPACAM Ivone Leong Classified gene: HEPACAM as Green List (high evidence)
Early onset or syndromic epilepsy v0.875 HEPACAM Ivone Leong Added comment: Comment on list classification: Promoted from amber to green based on evidence in the literature. One study (PMID: 21419380) reported 8 families with 10 patients with either homozygous or compound heterozygous variants in this gene having epilepsy. Another study (PMID: 27389245) reported on a patient with a homozygous variant in this gene having generalized tonic-clonic seizure.
Megalencephalic leukoencephalopathy with subcortical cysts 2A confirmed to be associated with this gene on OMIM but not Gene2Phenotype.
Early onset or syndromic epilepsy v0.875 HEPACAM Ivone Leong Gene: hepacam has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.874 EFHC1 Sarah Leigh Marked gene: EFHC1 as ready
Early onset or syndromic epilepsy v0.874 EFHC1 Sarah Leigh Gene: efhc1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.874 EFHC1 Sarah Leigh Classified gene: EFHC1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.874 EFHC1 Sarah Leigh Added comment: Comment on list classification: As this gene is associated with susceptibility to juvenile absence epilepsy (MIM 607631) and juvenile myoclonic epilepsy 1 (MIM 254770), EFHC1 has been rated at amber in consultation with Arianna Tucci (GEL Clinical Fellow).
Early onset or syndromic epilepsy v0.874 EFHC1 Sarah Leigh Gene: efhc1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.873 HEPACAM Ivone Leong Publications for gene: HEPACAM were set to
Early onset or syndromic epilepsy v0.872 PAFAH1B1 Eleanor Williams Marked gene: PAFAH1B1 as ready
Early onset or syndromic epilepsy v0.872 PAFAH1B1 Eleanor Williams Added comment: Comment when marking as ready: Sufficient cases with PAFAH1B1 variants in Lissencephaly 1 and reports of seizures.
Early onset or syndromic epilepsy v0.872 PAFAH1B1 Eleanor Williams Gene: pafah1b1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.872 PAFAH1B1 Eleanor Williams Phenotypes for gene: PAFAH1B1 were changed from to Lissencephaly 1 607432
Early onset or syndromic epilepsy v0.871 PAFAH1B1 Eleanor Williams Publications for gene: PAFAH1B1 were set to
Early onset or syndromic epilepsy v0.870 PAFAH1B1 Eleanor Williams Mode of inheritance for gene: PAFAH1B1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.869 PAFAH1B1 Eleanor Williams Classified gene: PAFAH1B1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.869 PAFAH1B1 Eleanor Williams Added comment: Comment on list classification: Numerous cases of variants in the PAFAH1B1 gene in patients with Lissencephaly 1 and reporting seizures.
Early onset or syndromic epilepsy v0.869 PAFAH1B1 Eleanor Williams Gene: pafah1b1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.868 PAFAH1B1 Eleanor Williams commented on gene: PAFAH1B1
Early onset or syndromic epilepsy v0.868 OPHN1 Eleanor Williams Marked gene: OPHN1 as ready
Early onset or syndromic epilepsy v0.868 OPHN1 Eleanor Williams Added comment: Comment when marking as ready: 3 cases of patients with SNVs in OPHN1 and a phenotype that includes epilepsy/seizures. Carrier females may show milder phenotype.
Early onset or syndromic epilepsy v0.868 OPHN1 Eleanor Williams Gene: ophn1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.868 OPHN1 Eleanor Williams Added comment: Comment on mode of inheritance: Note OMIM reports an XLR mode of inheritance. But evidence from PMIDs: 16221952, 29510240 suggest that carrier females can show phenotypic traits although in milder form.
Early onset or syndromic epilepsy v0.868 OPHN1 Eleanor Williams Mode of inheritance for gene: OPHN1 was changed from to 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 v0.867 OPHN1 Eleanor Williams Classified gene: OPHN1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.867 OPHN1 Eleanor Williams Added comment: Comment on list classification: 3 cases of patients with SNVs in OPHN1 and a phenotype that includes epilepsy/seizures. Seizures not seen in every case.
Early onset or syndromic epilepsy v0.867 OPHN1 Eleanor Williams Gene: ophn1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.866 OPHN1 Eleanor Williams Phenotypes for gene: OPHN1 were changed from to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance 300486; MENTAL RETARDATION X-LINKED OPHN1-RELATED
Early onset or syndromic epilepsy v0.865 OPHN1 Eleanor Williams Publications for gene: OPHN1 were set to
Early onset or syndromic epilepsy v0.864 OPHN1 Eleanor Williams commented on gene: OPHN1
Early onset or syndromic epilepsy v0.864 HEPACAM Ivone Leong Mode of inheritance for gene: HEPACAM was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.863 HEPACAM Ivone Leong Phenotypes for gene: HEPACAM were changed from to Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925
Early onset or syndromic epilepsy v0.862 OCLN Eleanor Williams Marked gene: OCLN as ready
Early onset or syndromic epilepsy v0.862 OCLN Eleanor Williams Added comment: Comment when marking as ready: Sufficient cases with variants in OCLN and seizures reported.
Early onset or syndromic epilepsy v0.862 OCLN Eleanor Williams Gene: ocln has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.862 OCLN Eleanor Williams Phenotypes for gene: OCLN were changed from to Pseudo-TORCH syndrome 1 251290
Early onset or syndromic epilepsy v0.861 OCLN Eleanor Williams Publications for gene: OCLN were set to
Early onset or syndromic epilepsy v0.860 OCLN Eleanor Williams Mode of inheritance for gene: OCLN was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.859 OCLN Eleanor Williams Classified gene: OCLN as Green List (high evidence)
Early onset or syndromic epilepsy v0.859 OCLN Eleanor Williams Added comment: Comment on list classification: More than 3 cases/variants reported in OCLN in patients with Pseudo-TORCH syndrome 1. At least 3 families with reports of seizures in newborns.
Early onset or syndromic epilepsy v0.859 OCLN Eleanor Williams Gene: ocln has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.858 OCLN Eleanor Williams commented on gene: OCLN
Early onset or syndromic epilepsy v0.858 HCFC1 Ivone Leong Marked gene: HCFC1 as ready
Early onset or syndromic epilepsy v0.858 HCFC1 Ivone Leong Added comment: Comment when marking as ready: Mental retardation, X-linked 3 is associated with HCFC1 and is confirmed in both OMIM and Gene2Phenotype. >3 unrelated probands have been found to have a mutation in this gene and also have epilepsy.
Early onset or syndromic epilepsy v0.858 HCFC1 Ivone Leong Gene: hcfc1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.858 HCFC1 Ivone Leong Classified gene: HCFC1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.858 HCFC1 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green as >3 unrelated probands have been found to have a mutation in this gene and also have epilepsy.
Early onset or syndromic epilepsy v0.858 HCFC1 Ivone Leong Gene: hcfc1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.857 HCFC1 Ivone Leong Publications for gene: HCFC1 were set to
Early onset or syndromic epilepsy v0.856 NUBPL Eleanor Williams Marked gene: NUBPL as ready
Early onset or syndromic epilepsy v0.856 NUBPL Eleanor Williams Added comment: Comment when marking as ready: Sufficient cases associating NUBPL with Mitochondrial complex I deficiency but not sufficient cases with epilepsy/seizure phenotype to rate this gene green on this panel.
Early onset or syndromic epilepsy v0.856 NUBPL Eleanor Williams Gene: nubpl has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.856 NUBPL Eleanor Williams Phenotypes for gene: NUBPL were changed from to Mitochondrial complex I deficiency 252010
Early onset or syndromic epilepsy v0.855 NUBPL Eleanor Williams Publications for gene: NUBPL were set to
Early onset or syndromic epilepsy v0.854 NUBPL Eleanor Williams Mode of inheritance for gene: NUBPL was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.853 NUBPL Eleanor Williams Classified gene: NUBPL as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.853 NUBPL Eleanor Williams Added comment: Comment on list classification: Keeping Amber as only 1 confirmed case of patient with epilepsy
Early onset or syndromic epilepsy v0.853 NUBPL Eleanor Williams Gene: nubpl has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.852 NUBPL Eleanor Williams commented on gene: NUBPL
Early onset or syndromic epilepsy v0.852 HCCS Ivone Leong Marked gene: HCCS as ready
Early onset or syndromic epilepsy v0.852 HCCS Ivone Leong Added comment: Comment when marking as ready: 'Linear skin defects with multiple congenital anomalies 1' confirmed in both OMIM and Gene2Phenotype. However, seizures is not a common feature. Only found one patient with who had a seizure (17033964).
Early onset or syndromic epilepsy v0.852 HCCS Ivone Leong Gene: hccs has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.852 HCCS Ivone Leong Publications for gene: HCCS were set to
Early onset or syndromic epilepsy v0.851 FH Louise Daugherty Marked gene: FH as ready
Early onset or syndromic epilepsy v0.851 FH Louise Daugherty Gene: fh has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.851 FH Louise Daugherty Classified gene: FH as Green List (high evidence)
Early onset or syndromic epilepsy v0.851 FH Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association.
Early onset or syndromic epilepsy v0.851 FH Louise Daugherty Gene: fh has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.850 FH Louise Daugherty Publications for gene: FH were set to 2314594; 10805328; 10805328; 20301679
Early onset or syndromic epilepsy v0.849 HCFC1 Ivone Leong Mode of inheritance for gene: HCFC1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v0.848 HCFC1 Ivone Leong Phenotypes for gene: HCFC1 were changed from Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type), 309541
Early onset or syndromic epilepsy v0.847 FH Louise Daugherty edited their review of gene: FH: Added comment: From GeneReview PMID: 20301679. Fumarate hydratase deficiency results in severe neonatal and early infantile encephalopathy that is characterized by poor feeding, failure to thrive, hypotonia, lethargy, and seizures. Epileptic seizures are common (40%-80%), although age of onset and seizure type are variable (PMID:10805328, PMID:20549362). Infantile spasms (epileptic spasms) accompanied by hypsarrhythmia on EEG have been reported (PMID:15221078, PMID:16151915).; Changed rating: GREEN
Early onset or syndromic epilepsy v0.847 HCFC1 Ivone Leong Phenotypes for gene: HCFC1 were changed from Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541
Early onset or syndromic epilepsy v0.846 HCFC1 Ivone Leong Phenotypes for gene: HCFC1 were changed from to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )
Early onset or syndromic epilepsy v0.845 FH Louise Daugherty Added comment: Comment on publications: Added publications to support upgrading of the gene to Green
Early onset or syndromic epilepsy v0.845 FH Louise Daugherty Publications for gene: FH were set to
Early onset or syndromic epilepsy v0.844 FH Louise Daugherty Added comment: Comment on mode of inheritance: Added MOI from external clinical review and publications
Early onset or syndromic epilepsy v0.844 FH Louise Daugherty Mode of inheritance for gene: FH was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.843 FH Louise Daugherty Added comment: Comment on phenotypes: Added phenotype suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel.
Early onset or syndromic epilepsy v0.843 FH Louise Daugherty Phenotypes for gene: FH were changed from to Fumarase deficiency, 606812; Seizures
Early onset or syndromic epilepsy v0.842 NSDHL Eleanor Williams Marked gene: NSDHL as ready
Early onset or syndromic epilepsy v0.842 NSDHL Eleanor Williams Added comment: Comment when marking as ready: 3 cases/variants in unrelated families where male show seizures. One SNV is missense but it segregates with the disease in the family, is predicted to affect protein function and is not found in dbSNP.
Early onset or syndromic epilepsy v0.842 NSDHL Eleanor Williams Gene: nsdhl has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.842 NSDHL Eleanor Williams Phenotypes for gene: NSDHL were changed from to CK syndrome 300831
Early onset or syndromic epilepsy v0.841 NSDHL Eleanor Williams Mode of inheritance for gene: NSDHL was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v0.840 NSDHL Eleanor Williams Publications for gene: NSDHL were set to
Early onset or syndromic epilepsy v0.839 NSDHL Eleanor Williams Classified gene: NSDHL as Green List (high evidence)
Early onset or syndromic epilepsy v0.839 NSDHL Eleanor Williams Added comment: Comment on list classification: 3 cases reported of variants in this gene in males with CK syndrome.
Early onset or syndromic epilepsy v0.839 NSDHL Eleanor Williams Gene: nsdhl has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.838 NSDHL Eleanor Williams commented on gene: NSDHL
Early onset or syndromic epilepsy v0.838 FGFR3 Louise Daugherty Publications for gene: FGFR3 were set to 27485793; 23649205; 24630288; 17621485; 16222682; 12794698; 23044018; 12794698; 18000976; http://doi.org/10.15844/pedneurbriefs-26-12-6; http://www.ashg.org/genetics/ashg07s/f20570.htm
Early onset or syndromic epilepsy v0.837 FGFR3 Louise Daugherty Publications for gene: FGFR3 were set to 27485793; 23649205; 24630288; 17621485; 16222682; 12794698; 23044018; 12794698; 18000976; http://doi.org/10.15844/pedneurbriefs-26-12-6
Early onset or syndromic epilepsy v0.836 FGFR3 Louise Daugherty Phenotypes for gene: FGFR3 were changed from Hypochondroplasia, 146000; Focal Epilepsy; Muenke syndrome 602849, Epilepsy to Hypochondroplasia, 146000; Focal Epilepsy; Muenke syndrome, 602849; Epilepsy
Early onset or syndromic epilepsy v0.835 FGFR3 Louise Daugherty Marked gene: FGFR3 as ready
Early onset or syndromic epilepsy v0.835 FGFR3 Louise Daugherty Gene: fgfr3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.835 FGFR3 Louise Daugherty Classified gene: FGFR3 as Green List (high evidence)
Early onset or syndromic epilepsy v0.835 FGFR3 Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases, and external review comment all support gene-disease association.
Early onset or syndromic epilepsy v0.835 FGFR3 Louise Daugherty Gene: fgfr3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.834 FGFR3 Louise Daugherty edited their review of gene: FGFR3: Changed rating: GREEN
Early onset or syndromic epilepsy v0.834 FGFR3 Louise Daugherty Publications for gene: FGFR3 were set to 27485793; 23649205; 24630288; 17621485; 16222682; 12794698; 23044018; 12794698; 18000976
Early onset or syndromic epilepsy v0.833 FGFR3 Louise Daugherty Added comment: Comment on phenotypes: added additional relevant phenotype Muenke syndrome Millichap, J.G., 2012. Epilepsy in Muenke Syndrome. Pediatric Neurology Briefs, 26(12), pp.93–93. DOI: http://doi.org/10.15844/pedneurbriefs-26-12-6 : A review of 789 published cases of Muenke syndrome with neurological complications identified epilepsy in 6 cases, with intracranial anomalies in 5. The intracranial anomalies were agenesis of the corpus callosum, hemimegalencephaly, and porencephaly. In the review of 58 patients with Muenke syndrome in the Washington, DC cohort, 7 (12%) had epilepsy and 4 survived neonatal apnea. Patients with Muenke syndrome should be monitored for apnea and seizures.
Early onset or syndromic epilepsy v0.833 FGFR3 Louise Daugherty Phenotypes for gene: FGFR3 were changed from Hypochondroplasia, 146000; Focal epilepsy to Hypochondroplasia, 146000; Focal Epilepsy; Muenke syndrome 602849, Epilepsy
Early onset or syndromic epilepsy v0.832 FGFR3 Louise Daugherty Mode of inheritance for gene: FGFR3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.831 FGFR3 Louise Daugherty Added comment: Comment on publications: Hypochondroplasia and FGFR3 variants are associated with characteristic abnormalities involving bilaterally medial temporal lobe structures, probable hippocampal cortex focal dysplasia, and early onset of focal epilepsy and was first reported PMID: 24630288 (2014). Subsequent cases PMID: 27485793, PMID:23649205, PMID:12794698. In addition, patients with with Muenke syndrome (MS) also show similarities in early-onset temporal lobe-related seizures PMID:23044018, PMID:12794698, PMID:18000976.
Early onset or syndromic epilepsy v0.831 FGFR3 Louise Daugherty Publications for gene: FGFR3 were set to
Early onset or syndromic epilepsy v0.830 FGFR3 Louise Daugherty Added comment: Comment on phenotypes: Added phenotype suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel.
Early onset or syndromic epilepsy v0.830 FGFR3 Louise Daugherty Phenotypes for gene: FGFR3 were changed from to Hypochondroplasia, 146000; Focal epilepsy
Early onset or syndromic epilepsy v0.829 HCCS Ivone Leong Mode of inheritance for gene: HCCS was changed from to 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 v0.828 FBXL4 Louise Daugherty Phenotypes for gene: FBXL4 were changed from Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471; Seizures
Early onset or syndromic epilepsy v0.827 HCCS Ivone Leong Phenotypes for gene: HCCS were changed from to Linear skin defects with multiple congenital anomalies 1, 309801
Early onset or syndromic epilepsy v0.826 FGF12 Louise Daugherty Marked gene: FGF12 as ready
Early onset or syndromic epilepsy v0.826 FGF12 Louise Daugherty Gene: fgf12 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.826 FGF12 Louise Daugherty Classified gene: FGF12 as Green List (high evidence)
Early onset or syndromic epilepsy v0.826 FGF12 Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association.
Early onset or syndromic epilepsy v0.826 FGF12 Louise Daugherty Gene: fgf12 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.825 FGF12 Louise Daugherty Added comment: Comment on mode of inheritance: changed MOI from external clinical review and publications
Early onset or syndromic epilepsy v0.825 FGF12 Louise Daugherty Mode of inheritance for gene: FGF12 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.824 FGF12 Louise Daugherty Added comment: Comment on publications: Added publications that support the association with the phenotype suggested by external reviewer and recent publication PMID:29699863 that describes two unrelated cases, 1 Japanese patient diagnosed with early infantile epileptic encephalopathy (EIEE) and another diagnosed with epilepsy of infancy with migrating focal seizures (EIMFS). Both patients had an identical heterozygous missense mutation [c.341G>A:p.(Arg114His)] in FGF12 , which was identified with whole-exome sequencing. The mutation is identical to previously reported mutations in cases with early onset epileptic encephalopathy.
Early onset or syndromic epilepsy v0.824 FGF12 Louise Daugherty Publications for gene: FGF12 were set to
Early onset or syndromic epilepsy v0.823 FBXL4 Louise Daugherty Marked gene: FBXL4 as ready
Early onset or syndromic epilepsy v0.823 FBXL4 Louise Daugherty Gene: fbxl4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.823 FBXL4 Louise Daugherty Classified gene: FBXL4 as Green List (high evidence)
Early onset or syndromic epilepsy v0.823 FBXL4 Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Enough evidence to support gene-disease association and relevance to this panel to rate this gene Green
Early onset or syndromic epilepsy v0.823 FBXL4 Louise Daugherty Gene: fbxl4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.822 FBXL4 Louise Daugherty Publications for gene: FBXL4 were set to 23993193; 23993194; 25868664; 26404457; 27182039; 27290639; 27099744; 27743463
Early onset or syndromic epilepsy v0.821 FBXL4 Louise Daugherty edited their review of gene: FBXL4: Added comment: FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome, seizures are part of the clinical phenotype and can start at age four months (Dai et al 2017 PMID: 27743463). Seizure types reported include complex partial seizures (Baroy et al 2016 PMID:27182039) and absence and generalized seizures (Gai et al 2013 PMID:23993194). The clinical manifestations of FBXL4-Related mtDNA Depletion Syndrome with seizures occurs at a frequency of approximately 33% of cases (Almannai et al 2017 PMID:28383868); Changed rating: GREEN
Early onset or syndromic epilepsy v0.821 FBXL4 Louise Daugherty Added comment: Comment on publications: FBXL4-related mtDNA depletion syndrome has been reported in 50 individuals to date. Added publications suggested to support upgrading of the gene to Green.
Early onset or syndromic epilepsy v0.821 FBXL4 Louise Daugherty Publications for gene: FBXL4 were set to
Early onset or syndromic epilepsy v0.820 FGF12 Louise Daugherty Added comment: Comment on phenotypes: added phenotype from external review and checked with OMIM
Early onset or syndromic epilepsy v0.820 FGF12 Louise Daugherty Phenotypes for gene: FGF12 were changed from to Epileptic encephalopathy, early infantile, 47, 617166
Early onset or syndromic epilepsy v0.819 GPHN Ivone Leong Mode of inheritance for gene: GPHN was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.818 GPHN Ivone Leong Phenotypes for gene: GPHN were changed from to Molybdenum cofactor deficiency C, 615501
Early onset or syndromic epilepsy v0.817 GTPBP3 Ivone Leong Publications for gene: GTPBP3 were set to
Early onset or syndromic epilepsy v0.816 GTPBP3 Ivone Leong Mode of inheritance for gene: GTPBP3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.815 FBXL4 Louise Daugherty Added comment: Comment on phenotypes: added OMIM phenotype and MIMid
Early onset or syndromic epilepsy v0.815 FBXL4 Louise Daugherty Phenotypes for gene: FBXL4 were changed from to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471
Early onset or syndromic epilepsy v0.814 GTPBP3 Ivone Leong Phenotypes for gene: GTPBP3 were changed from to Combined oxidative phosphorylation deficiency 23, 616198
Early onset or syndromic epilepsy v0.813 FBXL4 Louise Daugherty Added comment: Comment on mode of inheritance: Added MOI from external review and checked with PMID
Early onset or syndromic epilepsy v0.813 FBXL4 Louise Daugherty Mode of inheritance for gene: FBXL4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.812 GTPBP3 Ivone Leong Marked gene: GTPBP3 as ready
Early onset or syndromic epilepsy v0.812 GTPBP3 Ivone Leong Added comment: Comment when marking as ready: Associated with 'mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy' in Gene2phenotype. Only 2 unrelated families have been reported to have seizures.
Early onset or syndromic epilepsy v0.812 GTPBP3 Ivone Leong Gene: gtpbp3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.812 TIMM50 Rebecca Foulger commented on gene: TIMM50: Added 'watchlist' tag.
Early onset or syndromic epilepsy v0.812 TIMM50 Rebecca Foulger Tag watchlist tag was added to gene: TIMM50.
Early onset or syndromic epilepsy v0.812 SUCLG1 Rebecca Foulger commented on gene: SUCLG1: Added 'watchlist' tag.
Early onset or syndromic epilepsy v0.812 SUCLG1 Rebecca Foulger Tag watchlist tag was added to gene: SUCLG1.
Early onset or syndromic epilepsy v0.812 SUCLG1 Rebecca Foulger commented on gene: SUCLG1: PMID:26475597 (Carrozzo et al 2016) report 25 new patients with succinate-CoA ligase deficiency, and review the clinical and molecular findings in these and 46 previously reported patients. Of the 71 patients, 50 had SUCLA2 mutations and 21 had SUCLG1 mutations. Epilepsy was much more frequent in patients with SUCLA2 mutations compared to patients with SUCLG1 mutations: Only 1 patient with the SUCLG1 variant had epilepsy.
Early onset or syndromic epilepsy v0.812 SUCLA2 Rebecca Foulger Marked gene: SUCLA2 as ready
Early onset or syndromic epilepsy v0.812 SUCLA2 Rebecca Foulger Gene: sucla2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.812 SUCLA2 Rebecca Foulger Classified gene: SUCLA2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.812 SUCLA2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green. Green review plus sufficient cases (>3) of seizures in MMA patients (At least 3 new patients in PMID:26475597, 2 cousins from 1 family in PMID:15877282, and 1 Faroe Island patient in PMID:17287286/17301081).
Early onset or syndromic epilepsy v0.812 SUCLA2 Rebecca Foulger Gene: sucla2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.811 SUCLA2 Rebecca Foulger commented on gene: SUCLA2: PMID:26475597 (Carrozzo et al 2016) report 25 new patients with succinate-CoA ligase deficiency, and review the clinical and molecular findings in these and 46 previously reported patients. Of the 71 patients, 50 had SUCLA2 mutations and 21 had SUCLG1 mutations. Epilepsy reported as generalized seizures, unspecified epilesy or infantile spasms was mainly reported in patients with SUCLA2 variants. Only 1 patient with the SUCLG1 variant had epilepsy (5%). At least 3 cases of epilepsy listed in new patients with SUCLA2 variants (supplementary material).
Early onset or syndromic epilepsy v0.811 SUCLA2 Rebecca Foulger Publications for gene: SUCLA2 were set to 17301081; 17287286; 15877282; 23759946
Early onset or syndromic epilepsy v0.810 COQ9 Sarah Leigh Marked gene: COQ9 as ready
Early onset or syndromic epilepsy v0.810 COQ9 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for Coenzyme Q10 deficiency, primary, 5, 614654, although seizures are not mentioned. At least 2 loss of function variants have been reported in two unrelated cases. In vitro studies show that expression of wildtype COQ9 in patient cells carrying homozygous c.521+1del can rescue reduced activity of mitochondrial complex II/III and restore CoQ10 and COQ7 levels (PMID 26081641)
Early onset or syndromic epilepsy v0.810 COQ9 Sarah Leigh Gene: coq9 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.810 COQ9 Sarah Leigh Publications for gene: COQ9 were set to
Early onset or syndromic epilepsy v0.809 COQ9 Sarah Leigh Classified gene: COQ9 as Green List (high evidence)
Early onset or syndromic epilepsy v0.809 COQ9 Sarah Leigh Gene: coq9 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.808 COQ9 Sarah Leigh Mode of inheritance for gene: COQ9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.807 COQ9 Sarah Leigh Phenotypes for gene: COQ9 were changed from to Coenzyme Q10 deficiency, primary, 5, 614654
Early onset or syndromic epilepsy v0.806 COQ6 Sarah Leigh Marked gene: COQ6 as ready
Early onset or syndromic epilepsy v0.806 COQ6 Sarah Leigh Gene: coq6 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.806 COQ6 Sarah Leigh Mode of inheritance for gene: COQ6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.805 COQ6 Sarah Leigh Phenotypes for gene: COQ6 were changed from to Coenzyme Q10 deficiency, primary, 6, 614650
Early onset or syndromic epilepsy v0.804 COQ4 Sarah Leigh Marked gene: COQ4 as ready
Early onset or syndromic epilepsy v0.804 COQ4 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 6 variants reported in unrelated cases in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.804 COQ4 Sarah Leigh Gene: coq4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.804 COQ4 Sarah Leigh Classified gene: COQ4 as Green List (high evidence)
Early onset or syndromic epilepsy v0.804 COQ4 Sarah Leigh Gene: coq4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.803 COQ4 Sarah Leigh Phenotypes for gene: COQ4 were changed from to Coenzyme Q10 deficiency, primary, 7 616276
Early onset or syndromic epilepsy v0.802 COQ4 Sarah Leigh Publications for gene: COQ4 were set to
Early onset or syndromic epilepsy v0.801 COQ4 Sarah Leigh Mode of inheritance for gene: COQ4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.800 COQ2 Sarah Leigh Marked gene: COQ2 as ready
Early onset or syndromic epilepsy v0.800 COQ2 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in unrelated cases in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.800 COQ2 Sarah Leigh Gene: coq2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.800 COQ2 Sarah Leigh Classified gene: COQ2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.800 COQ2 Sarah Leigh Gene: coq2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.799 COQ2 Sarah Leigh Publications for gene: COQ2 were set to
Early onset or syndromic epilepsy v0.798 SUCLA2 Rebecca Foulger Publications for gene: SUCLA2 were set to
Early onset or syndromic epilepsy v0.797 SUCLA2 Rebecca Foulger commented on gene: SUCLA2: Jaberi et al 2013 (PMID:23759946) identified a homozygous c.751G>A transition in SUCLA2 (D251N) in 2 Iranian cousins with MIM:612073. No sign of epilepsy was seen in Patient 1. Epilepsy was not mentioned for the cousin (Patient 2).
Early onset or syndromic epilepsy v0.797 SUCLA2 Rebecca Foulger commented on gene: SUCLA2: Elpeleg et al 2005 (PMID:15877282) identified a homozgyous deletion/insertion in SUCLA2 in 2 first cousins from a consanguineous Muslim family. Both cousins had generalized seizures from age 1 and age 3.
Early onset or syndromic epilepsy v0.797 SUCLA2 Rebecca Foulger commented on gene: SUCLA2
Early onset or syndromic epilepsy v0.797 COQ2 Sarah Leigh Phenotypes for gene: COQ2 were changed from to Coenzyme Q10 deficiency, primary, 1 607426
Early onset or syndromic epilepsy v0.796 COQ2 Sarah Leigh Mode of inheritance for gene: COQ2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.795 COL4A2 Sarah Leigh Marked gene: COL4A2 as ready
Early onset or syndromic epilepsy v0.795 COL4A2 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as both DD and IF Gen2Phen gene. At least 3 variants reported in unrelated cases in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.795 COL4A2 Sarah Leigh Gene: col4a2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.795 COL4A2 Sarah Leigh Classified gene: COL4A2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.795 COL4A2 Sarah Leigh Gene: col4a2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.794 COL4A2 Sarah Leigh Publications for gene: COL4A2 were set to
Early onset or syndromic epilepsy v0.793 COL4A2 Sarah Leigh Phenotypes for gene: COL4A2 were changed from to Porencephaly 2 614483
Early onset or syndromic epilepsy v0.792 COL4A2 Sarah Leigh Mode of inheritance for gene: COL4A2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.791 SUCLA2 Rebecca Foulger Mode of inheritance for gene: SUCLA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.790 SUCLA2 Rebecca Foulger Phenotypes for gene: SUCLA2 were changed from to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073
Early onset or syndromic epilepsy v0.789 SUCLG1 Rebecca Foulger Marked gene: SUCLG1 as ready
Early onset or syndromic epilepsy v0.789 SUCLG1 Rebecca Foulger Added comment: Comment when marking as ready: Marked as Ready: November 13th 2018.
Early onset or syndromic epilepsy v0.789 SUCLG1 Rebecca Foulger Gene: suclg1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.789 COL4A1 Sarah Leigh Marked gene: COL4A1 as ready
Early onset or syndromic epilepsy v0.789 COL4A1 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported in unrelated cases in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.789 COL4A1 Sarah Leigh Gene: col4a1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.789 SUCLG1 Rebecca Foulger commented on gene: SUCLG1: PMID:22231385 (Honzik et al 2012) report 1 patient with SUCLG1 variant, who did not have seizures.
Early onset or syndromic epilepsy v0.789 SUCLG1 Rebecca Foulger Classified gene: SUCLG1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.789 SUCLG1 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber. Confirmed DD-G2P gene for FATAL INFANTILE LACTIC ACIDOSIS. Although patients with SUCLG1 variants can report with seizures (1 of 3 patients in PMID:26028457 plus EEG abnormalities in PMID:27484306), there are currently insufficient cases to rate as diagnostic.
Early onset or syndromic epilepsy v0.789 SUCLG1 Rebecca Foulger Gene: suclg1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.788 COL4A1 Sarah Leigh Classified gene: COL4A1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.788 COL4A1 Sarah Leigh Gene: col4a1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.787 SUCLG1 Rebecca Foulger commented on gene: SUCLG1: PMID:28358460 gives an overview of treatment of seizures when present in SUCLG1-related mitochondrial DNA (mtDNA) depletion syndrome patients.
Early onset or syndromic epilepsy v0.787 SUCLG1 Rebecca Foulger commented on gene: SUCLG1: Seizures are not reported in the clinical phenotype of patients in PMIDs 17668387, 19526370 and 20693550, which report patients with SUCLG1 variants.
Early onset or syndromic epilepsy v0.787 SUCLG1 Rebecca Foulger Added comment: Comment on publications: PMID:27143079 article is in Chinese. See PMID:26028457 for a description of the same patients.
Early onset or syndromic epilepsy v0.787 SUCLG1 Rebecca Foulger Publications for gene: SUCLG1 were set to 28358460; 27143079; 26028457; 27484306
Early onset or syndromic epilepsy v0.786 COL4A1 Sarah Leigh Publications for gene: COL4A1 were set to
Early onset or syndromic epilepsy v0.785 COL4A1 Sarah Leigh Phenotypes for gene: COL4A1 were changed from to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773; Brain small vessel disease with or without ocular anomalies 607595; Porencephaly 1 175780; Schizencephaly 269160
Early onset or syndromic epilepsy v0.784 SUCLG1 Rebecca Foulger commented on gene: SUCLG1: PMID:26028457 (Liu et al 2016) report 3 unrelated Chinese patients with severe psychomotor retardation, hypotonia, dystonia and athetoid movements, and homozygous/compound het variants in SUCLG1. Patient 2 had Epilepsy (Table 1).
Early onset or syndromic epilepsy v0.784 SUCLG1 Rebecca Foulger commented on gene: SUCLG1
Early onset or syndromic epilepsy v0.784 SUCLG1 Rebecca Foulger Publications for gene: SUCLG1 were set to
Early onset or syndromic epilepsy v0.783 COL4A1 Sarah Leigh Mode of inheritance for gene: COL4A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.782 COL18A1 Sarah Leigh Marked gene: COL18A1 as ready
Early onset or syndromic epilepsy v0.782 COL18A1 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 truncating variants reported in 3 unrelated cases in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.782 COL18A1 Sarah Leigh Gene: col18a1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.782 COL18A1 Sarah Leigh Classified gene: COL18A1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.782 COL18A1 Sarah Leigh Gene: col18a1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.781 COL18A1 Sarah Leigh Publications for gene: COL18A1 were set to
Early onset or syndromic epilepsy v0.780 SUCLG1 Rebecca Foulger Mode of inheritance for gene: SUCLG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.779 SUCLG1 Rebecca Foulger Phenotypes for gene: SUCLG1 were changed from to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400
Early onset or syndromic epilepsy v0.778 COL18A1 Sarah Leigh Phenotypes for gene: COL18A1 were changed from to Knobloch syndrome, type 1 267750
Early onset or syndromic epilepsy v0.777 COL18A1 Sarah Leigh Mode of inheritance for gene: COL18A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.776 CLN3 Sarah Leigh Marked gene: CLN3 as ready
Early onset or syndromic epilepsy v0.776 CLN3 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in 3 unrelated cases in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.776 CLN3 Sarah Leigh Gene: cln3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.776 CLN3 Sarah Leigh Classified gene: CLN3 as Green List (high evidence)
Early onset or syndromic epilepsy v0.776 CLN3 Sarah Leigh Gene: cln3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.775 CLN3 Sarah Leigh Publications for gene: CLN3 were set to
Early onset or syndromic epilepsy v0.774 CLN3 Sarah Leigh Phenotypes for gene: CLN3 were changed from to Ceroid lipofuscinosis, neuronal, 3 204200
Early onset or syndromic epilepsy v0.773 CLN3 Sarah Leigh Mode of inheritance for gene: CLN3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.772 CLCN4 Sarah Leigh Marked gene: CLCN4 as ready
Early onset or syndromic epilepsy v0.772 CLCN4 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene for INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY. At least 2 variants reported in 3 unrelated cases in whom seizures are included in their phenotypic features. Supportive functional studies are also reported (PMID 27550844).
Early onset or syndromic epilepsy v0.772 CLCN4 Sarah Leigh Gene: clcn4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.772 CLCN4 Sarah Leigh Mode of inheritance for gene: CLCN4 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v0.771 CLCN4 Sarah Leigh Publications for gene: CLCN4 were set to
Early onset or syndromic epilepsy v0.770 CLCN4 Sarah Leigh Phenotypes for gene: CLCN4 were changed from to Raynaud-Claes syndrome 300114; Mental retardation, X-linked 49/15
Early onset or syndromic epilepsy v0.769 CLCN4 Sarah Leigh Classified gene: CLCN4 as Green List (high evidence)
Early onset or syndromic epilepsy v0.769 CLCN4 Sarah Leigh Gene: clcn4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.768 STRADA Sarah Leigh edited their review of gene: STRADA: Changed rating: GREEN
Early onset or syndromic epilepsy v0.768 CACNA1G Sarah Leigh edited their review of gene: CACNA1G: Changed rating: GREEN
Early onset or syndromic epilepsy v0.768 CCDC88A Sarah Leigh Marked gene: CCDC88A as ready
Early onset or syndromic epilepsy v0.768 CCDC88A Sarah Leigh Added comment: Comment when marking as ready: Insufficient evidence at present for gene to be green (13/11/2018)
Early onset or syndromic epilepsy v0.768 CCDC88A Sarah Leigh Gene: ccdc88a has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.768 CCDC88A Sarah Leigh Tag watchlist tag was added to gene: CCDC88A.
Early onset or syndromic epilepsy v0.768 CCDC88A Sarah Leigh Phenotypes for gene: CCDC88A were changed from to ?PEHO syndrome-like 617507
Early onset or syndromic epilepsy v0.767 CCDC88A Sarah Leigh Publications for gene: CCDC88A were set to
Early onset or syndromic epilepsy v0.766 CCDC88A Sarah Leigh Mode of inheritance for gene: CCDC88A was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.765 CCDC88A Sarah Leigh Mode of inheritance for gene: CCDC88A was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.764 ADAT3 Sarah Leigh Marked gene: ADAT3 as ready
Early onset or syndromic epilepsy v0.764 ADAT3 Sarah Leigh Gene: adat3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.764 ADAT3 Sarah Leigh Phenotypes for gene: ADAT3 were changed from # 615286. MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36 to Mental retardation, autosomal recessive 36 615286
Early onset or syndromic epilepsy v0.763 CASK Sarah Leigh Marked gene: CASK as ready
Early onset or syndromic epilepsy v0.763 CASK Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in unrelated cases with seizures included in their phenotype.
Early onset or syndromic epilepsy v0.763 CASK Sarah Leigh Gene: cask has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.763 CASK Sarah Leigh Classified gene: CASK as Green List (high evidence)
Early onset or syndromic epilepsy v0.763 CASK Sarah Leigh Gene: cask has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.762 CASK Sarah Leigh Publications for gene: CASK were set to
Early onset or syndromic epilepsy v0.761 CASK Sarah Leigh Mode of inheritance for gene: CASK was changed from to 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 v0.760 CASK Sarah Leigh Phenotypes for gene: CASK were changed from to Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749; Mental retardation, with or without nystagmus 300422
Early onset or syndromic epilepsy v0.759 CACNA2D2 Sarah Leigh Tag watchlist tag was added to gene: CACNA2D2.
Early onset or syndromic epilepsy v0.759 CACNA2D2 Sarah Leigh Marked gene: CACNA2D2 as ready
Early onset or syndromic epilepsy v0.759 CACNA2D2 Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. Both variant reported have been refuted in OMIM and are now listed as VUS, however, the mouse model reported in PMID 11487633 does provide some evidence for involvement of this gene in epilepsy.
Early onset or syndromic epilepsy v0.759 CACNA2D2 Sarah Leigh Gene: cacna2d2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.759 CACNA2D2 Sarah Leigh Publications for gene: CACNA2D2 were set to 24358150; 23339110; 11487633
Early onset or syndromic epilepsy v0.758 CACNA2D2 Sarah Leigh Phenotypes for gene: CACNA2D2 were changed from to Absence epilepsy
Early onset or syndromic epilepsy v0.757 CACNA2D2 Sarah Leigh Publications for gene: CACNA2D2 were set to
Early onset or syndromic epilepsy v0.756 CACNA2D2 Sarah Leigh Mode of inheritance for gene: CACNA2D2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.755 C12orf57 Sarah Leigh Marked gene: C12orf57 as ready
Early onset or syndromic epilepsy v0.755 C12orf57 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 7 variants reported in a total of 56 cases of which 41 had seizures as a phenotypic feature.
Early onset or syndromic epilepsy v0.755 C12orf57 Sarah Leigh Gene: c12orf57 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.755 C12orf57 Sarah Leigh Classified gene: C12orf57 as Green List (high evidence)
Early onset or syndromic epilepsy v0.755 C12orf57 Sarah Leigh Gene: c12orf57 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.754 C12orf57 Sarah Leigh Publications for gene: C12orf57 were set to 23453666, 24798461, 23633300, 23453665
Early onset or syndromic epilepsy v0.753 C12orf57 Sarah Leigh Phenotypes for gene: C12orf57 were changed from to Temtamy syndrome 218340
Early onset or syndromic epilepsy v0.752 C12orf57 Sarah Leigh Publications for gene: C12orf57 were set to
Early onset or syndromic epilepsy v0.751 C12orf57 Sarah Leigh Mode of inheritance for gene: C12orf57 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.750 BTD Sarah Leigh Marked gene: BTD as ready
Early onset or syndromic epilepsy v0.750 BTD Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported 18 cases of Biotinidase deficiency 253260 that include seizures as part of the phenotype.
Early onset or syndromic epilepsy v0.750 BTD Sarah Leigh Gene: btd has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.750 BTD Sarah Leigh Classified gene: BTD as Green List (high evidence)
Early onset or syndromic epilepsy v0.750 BTD Sarah Leigh Gene: btd has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.749 BTD Sarah Leigh Publications for gene: BTD were set to 24075304; 4073853; 3196050
Early onset or syndromic epilepsy v0.748 PET100 Rebecca Foulger Marked gene: PET100 as ready
Early onset or syndromic epilepsy v0.748 PET100 Rebecca Foulger Gene: pet100 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.748 PET100 Rebecca Foulger Classified gene: PET100 as Green List (high evidence)
Early onset or syndromic epilepsy v0.748 PET100 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Green review, and Green rating agreed by Sarah Leigh. Seizures are a recognised phenotype of patients with Mitochondrial complex IV deficiency, which can be caused by variants in multiple genes, including PET100. 2 different PET100 variants reported so far in the literature (including a founder variant in Lebanese patients) in >3 unrelated individuals with seizures as a prominent phenotype (PMIDs24462369 and 23829769).
Early onset or syndromic epilepsy v0.748 PET100 Rebecca Foulger Gene: pet100 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.747 BTD Sarah Leigh Added comment: Comment on publications: PMID 24075304 mouse model, with seizures, PMIDs 4073853;3196050, seizures in patients
Early onset or syndromic epilepsy v0.747 BTD Sarah Leigh Publications for gene: BTD were set to
Early onset or syndromic epilepsy v0.746 BTD Sarah Leigh Mode of inheritance for gene: BTD was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.745 BTD Sarah Leigh Phenotypes for gene: BTD were changed from to Biotinidase deficiency 253260
Early onset or syndromic epilepsy v0.744 BRAF Sarah Leigh Marked gene: BRAF as ready
Early onset or syndromic epilepsy v0.744 BRAF Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene for Cardiofaciocutaneous syndrome 115150 & LEOPARD syndrome 3 613707. PMID 18039946 reported seizures in around half of their genetically confirmed Cardiofaciocutaneous syndrome 115150 cases (n=38) and PMID 19206169 reports 11 variants in 9 cases of Cardiofaciocutaneous syndrome 115150, 2 cases of Noonan syndrome 7 613706 and one case of LEOPARD syndrome 3 613707.
Early onset or syndromic epilepsy v0.744 BRAF Sarah Leigh Gene: braf has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.744 BRAF Sarah Leigh Classified gene: BRAF as Green List (high evidence)
Early onset or syndromic epilepsy v0.744 BRAF Sarah Leigh Gene: braf has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.743 BRAF Sarah Leigh Phenotypes for gene: BRAF were changed from Cardiofaciocutaneous syndrome 115150; LEOPARD syndrome 3 613707 to Cardiofaciocutaneous syndrome 115150; Noonan syndrome 7 613706; LEOPARD syndrome 3 613707
Early onset or syndromic epilepsy v0.742 PET100 Rebecca Foulger commented on gene: PET100: Added 'founder effect' tag based on PMID:24462369 who identified a founder variant in patients of Lebanese descent.
Early onset or syndromic epilepsy v0.742 PET100 Rebecca Foulger Tag founder-effect tag was added to gene: PET100.
Early onset or syndromic epilepsy v0.742 SURF1 Rebecca Foulger Marked gene: SURF1 as ready
Early onset or syndromic epilepsy v0.742 SURF1 Rebecca Foulger Gene: surf1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.742 SURF1 Rebecca Foulger Classified gene: SURF1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.742 SURF1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green. Green review. Confirmed DD-G2P gene for Leigh syndrome and Complex IV deficiency, which can present with seizures. Seizures are a recognised phenotype for Leigh syndrome, although not necessarily in LS patients caused by SURF1 variants (PMID:24462369). However, in their multi-centre study, PMID:24462369 report sufficient cases of SURF1-deficient patients with seizures (6 of 44) for inclusion on this panel.
Early onset or syndromic epilepsy v0.742 SURF1 Rebecca Foulger Gene: surf1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.741 SURF1 Rebecca Foulger commented on gene: SURF1: PMID:28273704 found SURF1 variants in 10 Leigh syndrome patients, making it the most common variation in this study. The most common primary symptoms of patients include seizures. The article is in Chinese so the full article can not be curated at this time.
Early onset or syndromic epilepsy v0.741 SURF1 Rebecca Foulger commented on gene: SURF1: Wedatilake et al. 2013 (PMID:23829769) conducted a study of 44 SURF1-deficient patients from 37 pedigrees from 10 different UK centres and two Australian centres. Seizures were found in 14% of patients (6 patients).
Early onset or syndromic epilepsy v0.741 SURF1 Rebecca Foulger Added comment: Comment on publications: PMID:24462369 state that seizures aren't a prominent feature of individuals with SURF1 variants.
Early onset or syndromic epilepsy v0.741 SURF1 Rebecca Foulger Publications for gene: SURF1 were set to
Early onset or syndromic epilepsy v0.740 PET100 Rebecca Foulger commented on gene: PET100: PMID:23829769 report a female patient born to British Pakistani parents with seizures beginning at 48 hours old. She died age 55 hours. She had a pathogenic homozygous nonsense variant in the PET100 gene (c.142C>T, p.Gln48*).
Early onset or syndromic epilepsy v0.740 PET100 Rebecca Foulger Publications for gene: PET100 were set to 24462369
Early onset or syndromic epilepsy v0.739 BRAF Sarah Leigh Added comment: Comment on mode of pathogenicity: Activating variants responsible for phenotype
Early onset or syndromic epilepsy v0.739 BRAF Sarah Leigh Mode of pathogenicity for gene: BRAF was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Early onset or syndromic epilepsy v0.738 PET100 Rebecca Foulger Mode of inheritance for gene: PET100 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.737 PET100 Rebecca Foulger Phenotypes for gene: PET100 were changed from to Mitochondrial complex IV deficiency, 220110; seizures
Early onset or syndromic epilepsy v0.736 PET100 Rebecca Foulger commented on gene: PET100
Early onset or syndromic epilepsy v0.736 BRAF Sarah Leigh Publications for gene: BRAF were set to
Early onset or syndromic epilepsy v0.735 BRAF Sarah Leigh Phenotypes for gene: BRAF were changed from to Cardiofaciocutaneous syndrome 115150; LEOPARD syndrome 3 613707
Early onset or syndromic epilepsy v0.734 BRAF Sarah Leigh Mode of inheritance for gene: BRAF was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.733 BOLA3 Sarah Leigh Classified gene: BOLA3 as Green List (high evidence)
Early onset or syndromic epilepsy v0.733 BOLA3 Sarah Leigh Gene: bola3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.732 BOLA3 Sarah Leigh Marked gene: BOLA3 as ready
Early onset or syndromic epilepsy v0.732 BOLA3 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least one truncating variant reported in 2 ethnically diverse unrelated cases of Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 614299. Supportive in vitro studies show are also presented (PMID 24334290).
Early onset or syndromic epilepsy v0.732 BOLA3 Sarah Leigh Gene: bola3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.732 BOLA3 Sarah Leigh Mode of inheritance for gene: BOLA3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.731 PET100 Rebecca Foulger Publications for gene: PET100 were set to
Early onset or syndromic epilepsy v0.730 BOLA3 Sarah Leigh Publications for gene: BOLA3 were set to
Early onset or syndromic epilepsy v0.729 SURF1 Rebecca Foulger Mode of inheritance for gene: SURF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.728 SURF1 Rebecca Foulger Phenotypes for gene: SURF1 were changed from to Leigh syndrome, due to COX IV deficiency, 256000
Early onset or syndromic epilepsy v0.727 IFIH1 Rebecca Foulger Classified gene: IFIH1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.727 IFIH1 Rebecca Foulger Gene: ifih1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.726 TBC1D20 Rebecca Foulger Marked gene: TBC1D20 as ready
Early onset or syndromic epilepsy v0.726 TBC1D20 Rebecca Foulger Gene: tbc1d20 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.726 TBC1D20 Rebecca Foulger Tag watchlist tag was added to gene: TBC1D20.
Early onset or syndromic epilepsy v0.726 TBC1D20 Rebecca Foulger Classified gene: TBC1D20 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.726 TBC1D20 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber: Variants in TBC1D20 are currently probable in DD-G2P for causing Warburg micro syndrome 4. Warburg micro syndrome 4 can present with seizures, but currently only 2 unrelated families reported in PMID:24239381 (including febrile seizures in 1 patient). Therefore require further epileptic cases before rating as diagnostic.
Early onset or syndromic epilepsy v0.726 TBC1D20 Rebecca Foulger Gene: tbc1d20 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.725 TBC1D20 Rebecca Foulger Phenotypes for gene: TBC1D20 were changed from Warburg micro syndrome 4, MIM#615663; seizures to Warburg micro syndrome 4, 615663; seizures
Early onset or syndromic epilepsy v0.724 TBC1D20 Rebecca Foulger Phenotypes for gene: TBC1D20 were changed from to Warburg micro syndrome 4, MIM#615663; seizures
Early onset or syndromic epilepsy v0.723 TBC1D20 Rebecca Foulger commented on gene: TBC1D20
Early onset or syndromic epilepsy v0.723 TBC1D20 Rebecca Foulger Publications for gene: TBC1D20 were set to
Early onset or syndromic epilepsy v0.722 BOLA3 Sarah Leigh Phenotypes for gene: BOLA3 were changed from to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 614299
Early onset or syndromic epilepsy v0.721 BCS1L Sarah Leigh Marked gene: BCS1L as ready
Early onset or syndromic epilepsy v0.721 BCS1L Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for GRACILE syndrome 603358. At least 5 variants reported in 3 unrelated cases.
Early onset or syndromic epilepsy v0.721 BCS1L Sarah Leigh Gene: bcs1l has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.721 BCS1L Sarah Leigh Classified gene: BCS1L as Green List (high evidence)
Early onset or syndromic epilepsy v0.721 BCS1L Sarah Leigh Gene: bcs1l has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.720 BCS1L Sarah Leigh Phenotypes for gene: BCS1L were changed from Mitochondrial complex III deficiency, nuclear type 1 124000; Leigh syndrome 256000 to Mitochondrial complex III deficiency, nuclear type 1 124000; Leigh syndrome 256000; GRACILE syndrome 603358
Early onset or syndromic epilepsy v0.719 BCS1L Sarah Leigh Publications for gene: BCS1L were set to
Early onset or syndromic epilepsy v0.718 TBC1D20 Rebecca Foulger Mode of inheritance for gene: TBC1D20 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.717 TBCD Rebecca Foulger Marked gene: TBCD as ready
Early onset or syndromic epilepsy v0.717 TBCD Rebecca Foulger Gene: tbcd has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.717 TBCD Rebecca Foulger Classified gene: TBCD as Green List (high evidence)
Early onset or syndromic epilepsy v0.717 TBCD Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green. Green review. Confirmed DD-G2P gene for Early-Onset Neurodegenerative Encephalopathy, which can present with seizures. Sufficient cases of seizures (>3) in PMID:27666370 and PMID:27666374 for inclusion on panel.
Early onset or syndromic epilepsy v0.717 TBCD Rebecca Foulger Gene: tbcd has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.716 TBCD Rebecca Foulger Phenotypes for gene: TBCD were changed from Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193; seizures to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193; seizures; West syndrome
Early onset or syndromic epilepsy v0.715 TBCD Rebecca Foulger commented on gene: TBCD: In 8 children from 4 unrelated families, Miyake et al (PMID:27666374) identified homozygous or compound het variants in TBCD. Seizures were reported in 3 families (Table 2) and were reported as GTS (Chinese family 3), GTS/GTCS (Israel family 4) and West syndrome/cataplexy (Japanese Family 2).
Early onset or syndromic epilepsy v0.715 TBCD Rebecca Foulger commented on gene: TBCD
Early onset or syndromic epilepsy v0.715 TBCD Rebecca Foulger Mode of inheritance for gene: TBCD was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.714 TBCD Rebecca Foulger Publications for gene: TBCD were set to
Early onset or syndromic epilepsy v0.713 TBCD Rebecca Foulger Phenotypes for gene: TBCD were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193; seizures
Early onset or syndromic epilepsy v0.712 TBCK Rebecca Foulger Marked gene: TBCK as ready
Early onset or syndromic epilepsy v0.712 TBCK Rebecca Foulger Gene: tbck has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.712 BCS1L Sarah Leigh Added comment: Comment on phenotypes: Both of these phenotypes include seizures as part of their phenotypic features
Early onset or syndromic epilepsy v0.712 BCS1L Sarah Leigh Phenotypes for gene: BCS1L were changed from Mitochondrial complex III deficiency, nuclear type 1 124000 to Mitochondrial complex III deficiency, nuclear type 1 124000; Leigh syndrome 256000
Early onset or syndromic epilepsy v0.711 TBCK Rebecca Foulger Classified gene: TBCK as Green List (high evidence)
Early onset or syndromic epilepsy v0.711 TBCK Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Green review plus confirmed DD-G2P gene for Severe Infantile Syndromic Encephalopathy, which can present with seizures. Sufficient (>3) unrelated cases of seizures in PMID:27040692 and PMID:27040691 for inclusion on panel.
Early onset or syndromic epilepsy v0.711 TBCK Rebecca Foulger Gene: tbck has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.710 BCS1L Sarah Leigh Phenotypes for gene: BCS1L were changed from to Mitochondrial complex III deficiency, nuclear type 1 124000
Early onset or syndromic epilepsy v0.709 BCS1L Sarah Leigh Mode of inheritance for gene: BCS1L was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.708 TBCK Rebecca Foulger commented on gene: TBCK: Bhoj et al. (2016, PMID:27040691) reported 13 patients from 9 unrelated families with IHPRF. Seven individuals from five families had seizures, and biallelic variants in TBCK.
Early onset or syndromic epilepsy v0.708 TBCK Rebecca Foulger commented on gene: TBCK
Early onset or syndromic epilepsy v0.708 TBCK Rebecca Foulger Phenotypes for gene: TBCK were changed from Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900; seizures
Early onset or syndromic epilepsy v0.707 TBCK Rebecca Foulger Publications for gene: TBCK were set to
Early onset or syndromic epilepsy v0.706 BCKDHB Sarah Leigh Marked gene: BCKDHB as ready
Early onset or syndromic epilepsy v0.706 BCKDHB Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 6 variants reported in 5 unrelated cases of Maple syrup urine disease, Classic type Ib 248600.
Early onset or syndromic epilepsy v0.706 BCKDHB Sarah Leigh Gene: bckdhb has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.706 BCKDHB Sarah Leigh Added comment: Comment on phenotypes: Seizures are a feature of Maple syrup urine disease, Classic type Ib 248600
Early onset or syndromic epilepsy v0.706 BCKDHB Sarah Leigh Phenotypes for gene: BCKDHB were changed from Maple syrup urine disease, type Ib 248600 to Maple syrup urine disease, type Ib 248600
Early onset or syndromic epilepsy v0.705 BCKDHB Sarah Leigh Classified gene: BCKDHB as Green List (high evidence)
Early onset or syndromic epilepsy v0.705 BCKDHB Sarah Leigh Gene: bckdhb has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.704 BCKDHB Sarah Leigh Phenotypes for gene: BCKDHB were changed from to Maple syrup urine disease, type Ib 248600
Early onset or syndromic epilepsy v0.703 TBCK Rebecca Foulger Mode of inheritance for gene: TBCK was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.702 TBCK Rebecca Foulger Phenotypes for gene: TBCK were changed from Hypotonia, infantile, with psychomotor retardation and characteristic facies 3,616900 to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900
Early onset or syndromic epilepsy v0.701 BCKDHB Sarah Leigh Mode of inheritance for gene: BCKDHB was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.700 TBCK Rebecca Foulger Phenotypes for gene: TBCK were changed from to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3,616900
Early onset or syndromic epilepsy v0.699 BCKDHA Sarah Leigh Marked gene: BCKDHA as ready
Early onset or syndromic epilepsy v0.699 BCKDHA Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 8 variants reported in unrelated cases of Maple syrup urine disease, Classic type Ia 248600.
Early onset or syndromic epilepsy v0.699 BCKDHA Sarah Leigh Gene: bckdha has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.699 BCKDHA Sarah Leigh Classified gene: BCKDHA as Green List (high evidence)
Early onset or syndromic epilepsy v0.699 BCKDHA Sarah Leigh Gene: bckdha has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.698 BCKDHA Sarah Leigh Added comment: Comment on phenotypes: Seizures are a feature of Maple syrup urine disease, Classic type Ia 248600
Early onset or syndromic epilepsy v0.698 BCKDHA Sarah Leigh Phenotypes for gene: BCKDHA were changed from Maple syrup urine disease, type Ia 248600 to Maple syrup urine disease, type Ia 248600
Early onset or syndromic epilepsy v0.697 BCKDHA Sarah Leigh Publications for gene: BCKDHA were set to
Early onset or syndromic epilepsy v0.696 BCKDHA Sarah Leigh Mode of inheritance for gene: BCKDHA was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.695 BCKDHA Sarah Leigh Phenotypes for gene: BCKDHA were changed from to Maple syrup urine disease, type Ia 248600
Early onset or syndromic epilepsy v0.694 ATP7A Sarah Leigh Marked gene: ATP7A as ready
Early onset or syndromic epilepsy v0.694 ATP7A Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in 3 unrelated cases of Menkes disease 309400 with seizures.
Early onset or syndromic epilepsy v0.694 ATP7A Sarah Leigh Gene: atp7a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.694 ATP7A Sarah Leigh Classified gene: ATP7A as Green List (high evidence)
Early onset or syndromic epilepsy v0.694 ATP7A Sarah Leigh Gene: atp7a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.693 ATP7A Sarah Leigh Publications for gene: ATP7A were set to
Early onset or syndromic epilepsy v0.692 ATP7A Sarah Leigh Mode of inheritance for gene: ATP7A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v0.691 ATP7A Sarah Leigh Phenotypes for gene: ATP7A were changed from to Menkes disease 309400
Early onset or syndromic epilepsy v0.690 SMS Sarah Leigh Marked gene: SMS as ready
Early onset or syndromic epilepsy v0.690 SMS Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 3 variants reported in unrelated cases of Mental retardation, X-linked, Snyder-Robinson type 309583 manifesting seizures.
Early onset or syndromic epilepsy v0.690 SMS Sarah Leigh Gene: sms has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.690 SMS Sarah Leigh Classified gene: SMS as Green List (high evidence)
Early onset or syndromic epilepsy v0.690 SMS Sarah Leigh Gene: sms has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.689 SMS Sarah Leigh Publications for gene: SMS were set to
Early onset or syndromic epilepsy v0.688 SMS Sarah Leigh Phenotypes for gene: SMS were changed from to Mental retardation, X-linked, Snyder-Robinson type 309583
Early onset or syndromic epilepsy v0.687 PCDH12 Sarah Leigh Marked gene: PCDH12 as ready
Early onset or syndromic epilepsy v0.687 PCDH12 Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 3 truncating variants identified, one variant has been shown to be a founder in four consanguineous Palestinian Israeli families following haplotype analysis, however, functional studies demonstrate nonsense-mediated mRNA decay and likely a complete loss of function in the cells from one affected family member (PMID 27164683). The other two variants were found as compound heterozygotes in a Japanese patient with dyskinetic cerebral palsy and epilepsy (PMID 28804758).
Early onset or syndromic epilepsy v0.687 PCDH12 Sarah Leigh Gene: pcdh12 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.687 PCDH12 Sarah Leigh Classified gene: PCDH12 as Green List (high evidence)
Early onset or syndromic epilepsy v0.687 PCDH12 Sarah Leigh Gene: pcdh12 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.686 SMS Sarah Leigh Mode of inheritance for gene: SMS was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v0.685 PCDH12 Sarah Leigh Gene: pcdh12 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.685 PCDH12 Sarah Leigh Phenotypes for gene: PCDH12 were changed from intellectual disability; microcephaly; epilepsy; perithalamic hyperechogenicity; periventricular hyperechogenicity; midbrain abnormalities; hypothalamic abnormalities to Microcephaly, seizures, spasticity, and brain calcification 251280
Early onset or syndromic epilepsy v0.684 PCDH12 Sarah Leigh Publications for gene: PCDH12 were set to 27164683
Early onset or syndromic epilepsy v0.683 MFSD8 Sarah Leigh Marked gene: MFSD8 as ready
Early onset or syndromic epilepsy v0.683 MFSD8 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported in cases of Ceroid lipofuscinosis, neuronal, 7 610951 with seizures.
Early onset or syndromic epilepsy v0.683 MFSD8 Sarah Leigh Gene: mfsd8 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.683 MFSD8 Sarah Leigh Classified gene: MFSD8 as Green List (high evidence)
Early onset or syndromic epilepsy v0.683 MFSD8 Sarah Leigh Gene: mfsd8 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.682 MFSD8 Sarah Leigh Mode of inheritance for gene: MFSD8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.681 MFSD8 Sarah Leigh Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7 610951
Early onset or syndromic epilepsy v0.680 MFSD8 Sarah Leigh Publications for gene: MFSD8 were set to
Early onset or syndromic epilepsy v0.679 ALG8 Sarah Leigh commented on gene: ALG8: Associated with Congenital disorder of glycosylation, type Ih 608104 in OMIM and as confirmed Gen2Phen, however, neither resource recorded seizures among the phenotypic features. Variants have been reported in at least 13 cases carrying biallelic ALG8 variants PMIDs 26066342 & 19688606.
Early onset or syndromic epilepsy v0.679 ALG8 Sarah Leigh Classified gene: ALG8 as Green List (high evidence)
Early onset or syndromic epilepsy v0.679 ALG8 Sarah Leigh Added comment: Comment on list classification: Based on evidence in publications 26066342 & 19688606
Early onset or syndromic epilepsy v0.679 ALG8 Sarah Leigh Gene: alg8 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.678 ALG8 Sarah Leigh Phenotypes for gene: ALG8 were changed from to Congenital disorder of glycosylation, type Ih 608104
Early onset or syndromic epilepsy v0.677 ALG8 Sarah Leigh Publications for gene: ALG8 were set to
Early onset or syndromic epilepsy v0.676 RHOBTB2 Konstantinos Varvagiannis gene: RHOBTB2 was added
gene: RHOBTB2 was added to Genetic Epilepsy Syndromes. Sources: Expert Review,Literature
Mode of inheritance for gene: RHOBTB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RHOBTB2 were set to 29276004; 29768694; 26740508
Phenotypes for gene: RHOBTB2 were set to Global developmental delay; Intellectual disability; Seizures; Postnatal microcephaly
Penetrance for gene: RHOBTB2 were set to unknown
Mode of pathogenicity for gene: RHOBTB2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: RHOBTB2 was set to GREEN
Added comment: PMID: 29276004 reports on 10 unrelated patients with de novo pathogenic missense variants in RHOBTB2. The phenotype in all individuals was compatible with a developmental and epileptic encephalopathy including early-onset seizures, severe intellectual disability, postnatal onset microcephaly (6/10) and movement disorders (8/10).

The variants occured as de novo events and clustered within the BTB-domain encoding region (within and between the 2 BTB domains). Three missense variants were recurrent and/or concerned the same residue (p.Arg483His in 4 individuals, Arg511Gln was reported in 2, and Arg511Trp was was found in another 2 individuals).

Functional studies in HEK293 cells suggested increased abundance of the mutant protein secondary to decreased proteasome degradation. Using Drosophila as a model organism, altered expression of RhoBTB (the single ortholog of the 3 vertebrate paralogs, closest to RHOBTB2) was shown to result in neurological phenotypes. RhoBTB overexpression in particular was associated with increased bang sensitivity (which was not the case or milder in the case if knockdown of this gene) and impaired performance upon the negative geotaxis assay, similar to the human neurological phenotypes. Altered RhoBTB dosage was shown to be associated with impaired dendrite development.

As commented by the authors, these results as well as the clustering of missense variants and the pLI score of 0.51 reported for RHOBTB2 are consistent with altered protein function (due to the missense variants) rather than haploinsufficiency or loss-of-function.

PMID: 29768694 describes 3 additional individuals, all found to harbor de novo missense variants again within the BTB-domain encoding region. Two of the variants had been reported in the previous study (Arg511Gln and Arg483His) while the third was a private one (Arg507Cys). The phenotype was similar to the previous descriptions. Functional studies were suggestive of impaired degradation of the mutant protein by the CUL3 complex although this was not secondary to decreased binding with CUL3.

PMID: 26740508 (cited by the two aforementioned publications) reports briefly on an individual with de novo missense variant in the same region of RHOBTB2 (Asn510Asp) and Rett-like phenotype.

RHOBTB2 is included in gene panels for intellectual disability offered by different diagnostic laboratories.

As a result the gene can be considered for inclusion in the intellectual disability and epilepsy panels as green.
Sources: Expert Review, Literature
Early onset or syndromic epilepsy v0.676 CACNA1A Sarah Leigh Marked gene: CACNA1A as ready
Early onset or syndromic epilepsy v0.676 CACNA1A Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 3 variants reported in 4 unrelated cases.
Early onset or syndromic epilepsy v0.676 CACNA1A Sarah Leigh Gene: cacna1a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.676 RANBP2 Sarah Leigh Phenotypes for gene: RANBP2 were changed from {Encephalopathy, acute, infection-induced, 3, susceptibility to} to {Encephalopathy, acute, infection-induced, 3, susceptibility to} 608033
Early onset or syndromic epilepsy v0.675 MAPK10 Sarah Leigh Marked gene: MAPK10 as ready
Early onset or syndromic epilepsy v0.675 MAPK10 Sarah Leigh Added comment: Comment when marking as ready: The the variant RCV000007138 has been reclassified in OMIM to a variant of unknown significance due to lack of evidence for the gene disease association.
Early onset or syndromic epilepsy v0.675 MAPK10 Sarah Leigh Gene: mapk10 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.675 MAPK10 Sarah Leigh Classified gene: MAPK10 as Red List (low evidence)
Early onset or syndromic epilepsy v0.675 MAPK10 Sarah Leigh Gene: mapk10 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.674 MAPK10 Sarah Leigh Publications for gene: MAPK10 were set to PMID: 23329067
Early onset or syndromic epilepsy v0.673 CHD2 Sarah Leigh Phenotypes for gene: CHD2 were changed from EPILEPTIC ENCEPHALOPATHY to Epileptic encephalopathy, childhood-onset 615369
Early onset or syndromic epilepsy v0.672 ARX Sarah Leigh Phenotypes for gene: ARX were changed from to Epileptic encephalopathy, early infantile, 1 308350; Hydranencephaly with abnormal genitalia 300215; Lissencephaly, X-linked 2 300215; Mental retardation, X-linked 29 and others 300419; Partington syndrome 309510; Proud syndrome 300004
Early onset or syndromic epilepsy v0.671 ARHGEF9 Sarah Leigh Phenotypes for gene: ARHGEF9 were changed from to Epileptic encephalopathy, early infantile, 8 300607
Early onset or syndromic epilepsy v0.670 ALDH7A1 Sarah Leigh Phenotypes for gene: ALDH7A1 were changed from to Epilepsy, pyridoxine-dependent 266100
Early onset or syndromic epilepsy v0.669 PIK3R2 Sarah Leigh Mode of inheritance for gene: PIK3R2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.668 SMARCA2 Sarah Leigh Marked gene: SMARCA2 as ready
Early onset or syndromic epilepsy v0.668 SMARCA2 Sarah Leigh Gene: smarca2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.668 SMARCA2 Sarah Leigh Classified gene: SMARCA2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.668 SMARCA2 Sarah Leigh Gene: smarca2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.667 SMARCA2 Sarah Leigh gene: SMARCA2 was added
gene: SMARCA2 was added to Genetic Epilepsy Syndromes. Sources: Expert list
Mode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMARCA2 were set to 22366787
Phenotypes for gene: SMARCA2 were set to Nicolaides-Baraitser syndrome 601358
Review for gene: SMARCA2 was set to GREEN
Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. In PMID 22366787 22/35 Nicolaides-Baraitser syndrome cases with SMARCA2 variant had seizures as part of their phenotype.
Gene provided by Ian Berry, Leeds
Sources: Expert list
Early onset or syndromic epilepsy v0.666 CREBBP Sarah Leigh Classified gene: CREBBP as Green List (high evidence)
Early onset or syndromic epilepsy v0.666 CREBBP Sarah Leigh Gene: crebbp has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.665 CREBBP Sarah Leigh Publications for gene: CREBBP were set to 20684013
Early onset or syndromic epilepsy v0.664 CREBBP Sarah Leigh Marked gene: CREBBP as ready
Early onset or syndromic epilepsy v0.664 CREBBP Sarah Leigh Gene: crebbp has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.664 CREBBP Sarah Leigh gene: CREBBP was added
gene: CREBBP was added to Genetic Epilepsy Syndromes. Sources: Expert list
Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CREBBP were set to 20684013
Phenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome 1 180849
Review for gene: CREBBP was set to RED
Added comment: Associated with Rubinstein-Taybi syndrome 1 in OMIM and as confirmed Gen2Phen gene for this phenotype. Although seizures are reported as a feature of Rubinstein-Taybi syndrome 1, seizures were only recorded in a single 2 year old girl who had several complex focal seizures, a year later a slow growing ganglioglioma of the brain (left temporo–medio–basal region) was surgically removed, after which the seizures ceased (PMID 20684013).
Sources: Expert list
Early onset or syndromic epilepsy v0.663 SLC6A5 Sarah Leigh Marked gene: SLC6A5 as ready
Early onset or syndromic epilepsy v0.663 SLC6A5 Sarah Leigh Added comment: Comment when marking as ready: The phenotype Hyperekplexia 3, 614618 includes exaggerated startle response to tactile or acoustic stimuli, manifesting as non-epileptic seizures. This phenotype is therefore not relevant to the Genetic epilepsy syndromes panel.
Early onset or syndromic epilepsy v0.663 SLC6A5 Sarah Leigh Gene: slc6a5 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.663 SLC6A5 Sarah Leigh Phenotypes for gene: SLC6A5 were changed from to Hyperekplexia 3, 614618
Early onset or syndromic epilepsy v0.662 SLC6A5 Sarah Leigh Mode of inheritance for gene: SLC6A5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.661 RYR3 Sarah Leigh Marked gene: RYR3 as ready
Early onset or syndromic epilepsy v0.661 RYR3 Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM (lasted edited 01/25/2005) or in Gen2Phen. Four variants reported in four cases, but with little supportive evidence for association with Epileptic encephalopathy.
Early onset or syndromic epilepsy v0.661 RYR3 Sarah Leigh Gene: ryr3 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.661 RYR3 Sarah Leigh Added comment: Comment on mode of inheritance: MOI based on report in PMID 29667327
Early onset or syndromic epilepsy v0.661 RYR3 Sarah Leigh Mode of inheritance for gene: RYR3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.660 RYR3 Sarah Leigh Phenotypes for gene: RYR3 were changed from to Epileptic encephalopathy
Early onset or syndromic epilepsy v0.659 RYR3 Sarah Leigh Publications for gene: RYR3 were set to 25262651
Early onset or syndromic epilepsy v0.658 RYR2 Sarah Leigh Publications for gene: RYR2 were set to 27832686; 18483626; 29667327; 11208676; 12093772; 11157710
Early onset or syndromic epilepsy v0.657 RYR2 Sarah Leigh Classified gene: RYR2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.657 RYR2 Sarah Leigh Gene: ryr2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.656 RYR2 Sarah Leigh gene: RYR2 was added
gene: RYR2 was added to Genetic Epilepsy Syndromes. Sources: Literature
Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RYR2 were set to 27832686; 18483626; 29667327; 11208676; 12093772; 11157710
Phenotypes for gene: RYR2 were set to Ventricular tachycardia, catecholaminergic polymorphic, 1 604772
Review for gene: RYR2 was set to AMBER
Added comment: Associated with phenotype in OMIM and not in Gen2Phen. At least 3 variants identified in cases displaying seizures (PMIDs 29667327 & 18483626), together with a mouse model (PMID 27832686). However, there are numerous cases of Ventricular tachycardia, catecholaminergic polymorphic, 1 604772, with no reports of seizures (PMIDs 11208676, 12093772, 11157710), therefore seizures appear to be a rare feature of this condition.
Sources: Literature
Early onset or syndromic epilepsy v0.655 RNASEH2A Rebecca Foulger Marked gene: RNASEH2A as ready
Early onset or syndromic epilepsy v0.655 RNASEH2A Rebecca Foulger Gene: rnaseh2a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.655 RNASEH2A Rebecca Foulger Classified gene: RNASEH2A as Green List (high evidence)
Early onset or syndromic epilepsy v0.655 RNASEH2A Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green. Green Review plus Confirmed DD-G2P gene for Aicardi-Goutieres syndrome 4, which can present with seizures. Seizures is a common (at least 50%) feature of patients with AGS. Although it's hard to trace in papers whether the AGS patients specifically with RNASEH2A variants displayed seizures, RNASEH2A variants are a known cause of AGS, and seizures are a common feature of AGS; therefore it is reasonable to include RNASEH2A on the Genetic Epilepsy panel.
Early onset or syndromic epilepsy v0.655 RNASEH2A Rebecca Foulger Gene: rnaseh2a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.654 RNASEH2A Rebecca Foulger Publications for gene: RNASEH2A were set to
Early onset or syndromic epilepsy v0.653 RNASEH2A Rebecca Foulger Mode of inheritance for gene: RNASEH2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.652 RNASEH2A Rebecca Foulger commented on gene: RNASEH2A: Crow et al., 2015 (PMID:25604658) report data for 374 mutation-positive patients from 299 families encompassing all seven known AGS-related genes. 140 of 362 patients had seizures. Biallelic RNASEH2A variants were reported in 14 families.
Early onset or syndromic epilepsy v0.652 RNASEH2A Rebecca Foulger commented on gene: RNASEH2A: Rice et al 2007 (PMID:17846997) collected clinical data for 123 individuals from 94 families with variants in TREX1, RNASEH2A, RNASEH2B, or RNASEH2C. Seizures were reported in 53% of patients. 4 children from 3 families had biallelic variants in RNASEH2A. 1 individual with RNASEH2A variant who was affected at birth experienced neonatal seizures (Table 2).
Early onset or syndromic epilepsy v0.652 RNASEH2A Rebecca Foulger commented on gene: RNASEH2A
Early onset or syndromic epilepsy v0.652 RNASEH2A Rebecca Foulger Phenotypes for gene: RNASEH2A were changed from to Aicardi-Goutieres syndrome 4, 610333
Early onset or syndromic epilepsy v0.651 TBL1XR1 Rebecca Foulger Marked gene: TBL1XR1 as ready
Early onset or syndromic epilepsy v0.651 TBL1XR1 Rebecca Foulger Gene: tbl1xr1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.651 TBL1XR1 Rebecca Foulger Classified gene: TBL1XR1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.651 TBL1XR1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Confirmed DD-G2P gene for Pierpont and mental retardation, both of which can present with seizures. Seizures reported in at least 3 patients (PMID:25102098, PMID:30365874 and PMID:9450851-original patient). Burkitt Wright, 2011 (PMID:21834056) also reports that "Seizures, in particular absence seizures, have been reported in several [Pierpont] patients. While they are clearly not universal, it currently appears that epilepsy may be sufficiently more common in children with Pierpont syndrome to be considered a feature of the condition". Therefore reasonable to include TBL1XR1 on the diagnostic panel.
Early onset or syndromic epilepsy v0.651 TBL1XR1 Rebecca Foulger Gene: tbl1xr1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.650 TBL1XR1 Rebecca Foulger Publications for gene: TBL1XR1 were set to
Early onset or syndromic epilepsy v0.649 TBL1XR1 Rebecca Foulger Mode of inheritance for gene: TBL1XR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.648 TBL1XR1 Rebecca Foulger Phenotypes for gene: TBL1XR1 were changed from to Mental retardation, autosomal dominant 41, 616944; Pierpont syndrome, 602342
Early onset or syndromic epilepsy v0.647 TBL1XR1 Rebecca Foulger commented on gene: TBL1XR1: Previously reported individuals reported by Burkitt Wright, 2011 (PMID:21834056) include the initial patient reported by Pierpont et al 1998 (PMID:9450851) who had grand mal seizures from age 5.
Early onset or syndromic epilepsy v0.647 TBL1XR1 Rebecca Foulger commented on gene: TBL1XR1: PMID:30365874 (Lemattre et al 2018) report a Caucasian boy (Patient 1) with a seizure disorder with both myoclonic and focal seizures that began age 10. Her harboured a de novo heterozygous missense variant (NM_024665.4:c.974G>A, p.Cys325Tyr) in TBL1XR1. Their second unrelated patient also had a missense TBL1XR1 variant but never had seizures.
Early onset or syndromic epilepsy v0.647 TBL1XR1 Rebecca Foulger commented on gene: TBL1XR1: In a 5-year-old Japanese girl with autosomal dominant mental retardation-41 (MRD41; 616944), Saitsu et al. (2014, PMID:25102098) identified a de novo heterozygous transition (c.209G-A, NM_024665.4) in the TBL1XR1 gene (G70D). The patient developed infantile spasms at age 5 months.
Early onset or syndromic epilepsy v0.647 TBL1XR1 Rebecca Foulger commented on gene: TBL1XR1
Early onset or syndromic epilepsy v0.647 TIMM50 Rebecca Foulger Marked gene: TIMM50 as ready
Early onset or syndromic epilepsy v0.647 TIMM50 Rebecca Foulger Gene: timm50 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.647 TIMM50 Rebecca Foulger Classified gene: TIMM50 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.647 TIMM50 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber: 2 families reported in PMID:27573165 plus 1 family reported in a conference abstract. Further published or clinical cases required for diagnostic rating.
Early onset or syndromic epilepsy v0.647 TIMM50 Rebecca Foulger Gene: timm50 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.646 TIMM50 Rebecca Foulger Publications for gene: TIMM50 were set to 27573165
Early onset or syndromic epilepsy v0.645 TIMM50 Rebecca Foulger commented on gene: TIMM50: In a conference abstract, Serajee et al identified a homozygous mutation, Gly372Ser, in the TIMM50 gene, in three sibs who suffered from intractable epilepsy and developmental delay accompanied by 3-methylglutaconic aciduria.
Early onset or syndromic epilepsy v0.645 TIMM50 Rebecca Foulger Mode of inheritance for gene: TIMM50 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.644 TIMM50 Rebecca Foulger commented on gene: TIMM50
Early onset or syndromic epilepsy v0.644 TIMM50 Rebecca Foulger Publications for gene: TIMM50 were set to
Early onset or syndromic epilepsy v0.643 TIMM50 Rebecca Foulger Phenotypes for gene: TIMM50 were changed from to 3-methylglutaconic aciduria, type IX, 617698; intellectual disability and seizure; epilepsy and developmental delay
Early onset or syndromic epilepsy v0.642 TMEM70 Rebecca Foulger Marked gene: TMEM70 as ready
Early onset or syndromic epilepsy v0.642 TMEM70 Rebecca Foulger Gene: tmem70 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.642 TMEM70 Rebecca Foulger Publications for gene: TMEM70 were set to
Early onset or syndromic epilepsy v0.641 TMEM70 Rebecca Foulger Classified gene: TMEM70 as Green List (high evidence)
Early onset or syndromic epilepsy v0.641 TMEM70 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Green review, and Confirmed DD-G2P gene for Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 which can present with seizures. Seizures reported in 3 unrelated patients from the literature (2 in PMID:18953340 and 1 in PMID:21147908) so just sufficient cases for Green rating.
Early onset or syndromic epilepsy v0.641 TMEM70 Rebecca Foulger Gene: tmem70 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.640 TMEM70 Rebecca Foulger Mode of inheritance for gene: TMEM70 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.639 TMEM70 Rebecca Foulger Mode of inheritance for gene: TMEM70 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.638 RYR3 Sarah Leigh Publications for gene: RYR3 were set to EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11
Early onset or syndromic epilepsy v0.637 TMEM70 Rebecca Foulger Phenotypes for gene: TMEM70 were changed from to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052; seizures
Early onset or syndromic epilepsy v0.636 TMEM70 Rebecca Foulger commented on gene: TMEM70: In 6 patients from 4 unrelated consanguineous Arab-Muslim families with MC5DN2, Spiegel et al. (2011, PMID:21147908) identified 4 different homozygous mutations in the TMEM70 gene. Patient IV-1 developed generalised seizures at age 13.
Early onset or syndromic epilepsy v0.636 TMEM70 Rebecca Foulger commented on gene: TMEM70
Early onset or syndromic epilepsy v0.636 TNK2 Rebecca Foulger Marked gene: TNK2 as ready
Early onset or syndromic epilepsy v0.636 TNK2 Rebecca Foulger Gene: tnk2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.636 TNK2 Rebecca Foulger commented on gene: TNK2: Added 'watchlist' tag.
Early onset or syndromic epilepsy v0.636 TNK2 Rebecca Foulger Tag watchlist tag was added to gene: TNK2.
Early onset or syndromic epilepsy v0.636 TNK2 Rebecca Foulger Classified gene: TNK2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.636 TNK2 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber: 3 unrelated families reported in total: 3 siblings from PMID:23686771, and 2 further cases from PMID:27977884. However, the V716M variant from PMID:23686771 is classed as VUS in OMIM. And little information is given about the compound het variants from PMID:27977884. Therefore Amber rating awaiting further cases.
Early onset or syndromic epilepsy v0.636 TNK2 Rebecca Foulger Gene: tnk2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.635 TNK2 Rebecca Foulger Mode of inheritance for gene: TNK2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.634 TNK2 Rebecca Foulger Phenotypes for gene: TNK2 were changed from to severe autosomal recessive infantile onset epilepsy; EE
Early onset or syndromic epilepsy v0.633 TNK2 Rebecca Foulger Publications for gene: TNK2 were set to
Early onset or syndromic epilepsy v0.632 TNK2 Rebecca Foulger commented on gene: TNK2: PMID:27977884 (Mao et al. 2017) report 2 further seizure patients with TNK2 variants. Patient A is a 20 month old non-dysmorphic girl of healthy non-consanguineous parents. At 13 months of age, she started to have spasm seizures. A pair of compound heterozygote variants in TNK2 (c.2860 G>T, c.3004 G>T) was found and verified by Sanger sequencing. Patient B is an 18 month old girl and the 2nd of 3 children of healthy parents. At the age of 11 months she exhibited seizure activity characterized by cluster of spasm. Sequencing found a pair of compound heterozygote variants in TNK2 (c.1705 A>G, c.2243 G>A) which were verified by Sanger sequencing. No further information on the variants (including protein information) was given.
Early onset or syndromic epilepsy v0.632 TNK2 Rebecca Foulger commented on gene: TNK2
Early onset or syndromic epilepsy v0.632 TRAPPC12 Rebecca Foulger Marked gene: TRAPPC12 as ready
Early onset or syndromic epilepsy v0.632 TRAPPC12 Rebecca Foulger Gene: trappc12 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.632 TRAPPC12 Rebecca Foulger Classified gene: TRAPPC12 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.632 TRAPPC12 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber: 2 literature cases only in PMID:28777934. Seizures are a phenotype of both cases but further cases required for a diagnostic rating.
Early onset or syndromic epilepsy v0.632 TRAPPC12 Rebecca Foulger Gene: trappc12 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.631 TRAPPC12 Rebecca Foulger Deleted their comment
Early onset or syndromic epilepsy v0.631 TRAPPC12 Rebecca Foulger Classified gene: TRAPPC12 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.631 TRAPPC12 Rebecca Foulger Added comment: Comment on list classification: In 3 patients from 2 unrelated families with early-onset progressive encephalopathy with brain atrophy and spasticity (MIM:617669), Milev et al. (2017, PMID:28777934) identified homozygous or compound heterozygous mutations in the TRAPPC12 gene. The article text reports seizures in all 3 patients.
Early onset or syndromic epilepsy v0.631 TRAPPC12 Rebecca Foulger Gene: trappc12 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.630 TRAPPC12 Rebecca Foulger commented on gene: TRAPPC12
Early onset or syndromic epilepsy v0.630 TRAPPC12 Rebecca Foulger Publications for gene: TRAPPC12 were set to
Early onset or syndromic epilepsy v0.629 TRAPPC12 Rebecca Foulger Phenotypes for gene: TRAPPC12 were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669
Early onset or syndromic epilepsy v0.628 TRAPPC12 Rebecca Foulger Mode of inheritance for gene: TRAPPC12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.627 TRAPPC6B Rebecca Foulger Marked gene: TRAPPC6B as ready
Early onset or syndromic epilepsy v0.627 TRAPPC6B Rebecca Foulger Gene: trappc6b has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.627 TRAPPC6B Rebecca Foulger Classified gene: TRAPPC6B as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.627 TRAPPC6B Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber: A founder TRAPPC6B variant was reported in recent PMID:28626029 in Egyptian patients with seizures. Plus additional variant in ID patient from PMID:28397838. Further unrelated cases are required for a diagnostic rating.
Early onset or syndromic epilepsy v0.627 TRAPPC6B Rebecca Foulger Gene: trappc6b has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.626 TRAPPC6B Rebecca Foulger Publications for gene: TRAPPC6B were set to
Early onset or syndromic epilepsy v0.625 TRAPPC6B Rebecca Foulger Mode of inheritance for gene: TRAPPC6B was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.624 TRAPPC6B Rebecca Foulger commented on gene: TRAPPC6B: In 2 patients from a consanguineous family, PMID:28397838 (Harripaul et al. 2018) identified a homozygous truncating variant in TRAPPC6N. The patients were selected for non-syndromic ID, which often presents with epilepsy but seizures were not discussed in the patients.
Early onset or syndromic epilepsy v0.624 TRAPPC6B Rebecca Foulger commented on gene: TRAPPC6B
Early onset or syndromic epilepsy v0.624 TRAPPC6B Rebecca Foulger Phenotypes for gene: TRAPPC6B were changed from to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, 617862
Early onset or syndromic epilepsy v0.623 TSEN34 Rebecca Foulger Marked gene: TSEN34 as ready
Early onset or syndromic epilepsy v0.623 TSEN34 Rebecca Foulger Gene: tsen34 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.623 TSEN34 Rebecca Foulger commented on gene: TSEN34: Added 'watchlist' tag for alerts on additional cases.
Early onset or syndromic epilepsy v0.623 TSEN34 Rebecca Foulger Tag watchlist tag was added to gene: TSEN34.
Early onset or syndromic epilepsy v0.623 TSEN34 Rebecca Foulger Classified gene: TSEN34 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.623 TSEN34 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber. Probable DD-G2P gene for PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4. One PCH2 patient with seizures and TSEN34 variant reported in PMID:20952379 (probably the same patient as from PMID:18711368/Budde et al 2008).
Early onset or syndromic epilepsy v0.623 TSEN34 Rebecca Foulger Gene: tsen34 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.622 IFIH1 Rebecca Foulger Marked gene: IFIH1 as ready
Early onset or syndromic epilepsy v0.622 IFIH1 Rebecca Foulger Gene: ifih1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.622 IFIH1 Rebecca Foulger Classified gene: IFIH1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.622 IFIH1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green. Confirmed DD-G2P gene for Aicardi-Goutieres syndrome 7, which can present with seizures. Sufficient cases (>3) of seizures from PMID:24995871, PMID:24686847 and 29270977. Plus a number of other papers reporting seizures as a common phenotype of AGS (PMID:25604658).
Early onset or syndromic epilepsy v0.622 IFIH1 Rebecca Foulger Gene: ifih1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.621 IFIH1 Rebecca Foulger Publications for gene: IFIH1 were set to
Early onset or syndromic epilepsy v0.620 IFIH1 Rebecca Foulger Mode of inheritance for gene: IFIH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.619 IFIH1 Rebecca Foulger commented on gene: IFIH1: PMID:24686847 (Rice et al. 2014) observed six rare IFIH1 variants in eight probands with AGS. 2 of the patients presented with seizures (see Supplementary material): F102 (European Italian male with R720Q variant) and F626 (European Italian male with D393V variant).
Early onset or syndromic epilepsy v0.619 IFIH1 Rebecca Foulger commented on gene: IFIH1: PMID:29270977 report a 7 year old Japanese girl with febrile seizures amongst her phenotypes and a novel IFIH1 variant.
Early onset or syndromic epilepsy v0.619 IFIH1 Rebecca Foulger commented on gene: IFIH1: PMID:25604658 (Crow et al. 2015) reported on 374 patients from 299 families with symptoms including seizures in 140 patients. Monoallelic variants of IFIH1 were found in 9 families.
Early onset or syndromic epilepsy v0.619 IFIH1 Rebecca Foulger commented on gene: IFIH1: PMID:29239743 (Mutairi et al., 2018) reviewed the records of 24 unrelated patients with Aicardi-Goutières syndrome from 6 tertiary hospitals in different Arab countries. The most common presenting signs were developmental delay and seizures. A Heterozygous c.961G>T variant in IFIH1 was found in 1 patient who didn't have seizures as part of her phenotype.
Early onset or syndromic epilepsy v0.619 IFIH1 Rebecca Foulger commented on gene: IFIH1
Early onset or syndromic epilepsy v0.619 IFIH1 Rebecca Foulger Phenotypes for gene: IFIH1 were changed from to Aicardi-Goutieres syndrome 7, 615846; seizures
Early onset or syndromic epilepsy v0.618 SAMHD1 Rebecca Foulger Marked gene: SAMHD1 as ready
Early onset or syndromic epilepsy v0.618 SAMHD1 Rebecca Foulger Gene: samhd1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.618 SAMHD1 Rebecca Foulger Phenotypes for gene: SAMHD1 were changed from to Aicardi-Goutieres syndrome 5, 612952; seizures
Early onset or syndromic epilepsy v0.617 SAMHD1 Rebecca Foulger Publications for gene: SAMHD1 were set to
Early onset or syndromic epilepsy v0.616 SAMHD1 Rebecca Foulger Classified gene: SAMHD1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.616 SAMHD1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Green review plus Confirmed DD-G2P gene for Aicardi-Goutieres syndrome, which can present with seizures. 2 seizures reported in patients with SAMHD1 variants in PMID:29239743. Plus seizures are a common phenotype of AGS (PMID:29239743 and PMID:25604658), and since variants in SAMHD1 are a known cause of AGS, it is reasonable to include SAMHD1 on the panel. PMID:30275001 also provide support with one pathogenic and one VUS SAMHD1 variant reported in a Japanese girl with seizures.
Early onset or syndromic epilepsy v0.616 SAMHD1 Rebecca Foulger Gene: samhd1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.615 SAMHD1 Rebecca Foulger commented on gene: SAMHD1: PMID:30275001 (Haskell et al 2018) report a 4 year old girl with global developmental delay and seizures. WES identified two candidate causative pathogenic variants in SAMHD1: c.602T>A p.I201N (previously reported as pathogenic) and c.1293A>T p.L431F (a VUS).
Early onset or syndromic epilepsy v0.615 SAMHD1 Rebecca Foulger commented on gene: SAMHD1: Rice et al., 2009 (PMID:19525956): In 13 families from varying places (Hungarian, Maltese, French, Pakistani, Canadian, Moroccon, Indian, Arab, Ashenzai, Fijan) they identified homozygous or compound heterozygous variants in the SAMHD1 gene. Some families were consanguineous. Detailed phenotypes for the individuals were not listed.
Early onset or syndromic epilepsy v0.615 SAMHD1 Rebecca Foulger commented on gene: SAMHD1: PMID:25604658 (Crow et al. 2015) reported on 374 patients from 299 families with symptoms including seizures in 140 patients. Biallelic SAMHD1 variants were recorded in 38 families, and one heterozygous SAMHD1 variant (p.Ile201Asn) was found in 1 family.
Early onset or syndromic epilepsy v0.615 SAMHD1 Rebecca Foulger commented on gene: SAMHD1
Early onset or syndromic epilepsy v0.615 SAMHD1 Rebecca Foulger Mode of inheritance for gene: SAMHD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.614 RNASEH2C Rebecca Foulger Marked gene: RNASEH2C as ready
Early onset or syndromic epilepsy v0.614 RNASEH2C Rebecca Foulger Gene: rnaseh2c has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.614 RNASEH2C Rebecca Foulger Classified gene: RNASEH2C as Green List (high evidence)
Early onset or syndromic epilepsy v0.614 RNASEH2C Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Confirmed DD-G2P gene for Aicardi-Goutieres syndrome 3, which can present with seizures. Most AGS patients carry the c.205C>T variant, which has been characterized as Founder effect in Pakistani patients (PMID:29150899). Additional variants are observed in single families (PMID:25604658 and PMID:20131292). Although it's unclear in some papers whether the AGS patients specifically with RNASEH2C variants displayed seizures, RNASEH2C variants are a known cause of AGS, and seizures are a common feature of AGS; therefore it is reasonable to include RNASEH2C on the Genetic Epilepsy panel.
Early onset or syndromic epilepsy v0.614 RNASEH2C Rebecca Foulger Gene: rnaseh2c has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.613 RNASEH2C Rebecca Foulger Publications for gene: RNASEH2C were set to
Early onset or syndromic epilepsy v0.612 RNASEH2C Rebecca Foulger Mode of inheritance for gene: RNASEH2C was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.611 RNASEH2C Rebecca Foulger commented on gene: RNASEH2C
Early onset or syndromic epilepsy v0.611 RNASEH2C Rebecca Foulger Phenotypes for gene: RNASEH2C were changed from to Aicardi-Goutieres syndrome 3, 610329
Early onset or syndromic epilepsy v0.610 RNASEH2B Rebecca Foulger Marked gene: RNASEH2B as ready
Early onset or syndromic epilepsy v0.610 RNASEH2B Rebecca Foulger Gene: rnaseh2b has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.610 RNASEH2B Rebecca Foulger Classified gene: RNASEH2B as Green List (high evidence)
Early onset or syndromic epilepsy v0.610 RNASEH2B Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Confirmed DD-G2P gene for Aicardi-Goutieres syndrome 2 (MIM:610181), which can present with seizures. Sufficient cases of seizures (>3) from PMIDs29239743, 17846997 and 28332073 for inclusion on panel.
Early onset or syndromic epilepsy v0.610 RNASEH2B Rebecca Foulger Gene: rnaseh2b has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.609 RNASEH2B Rebecca Foulger Mode of inheritance for gene: RNASEH2B was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.608 RNASEH2B Rebecca Foulger Publications for gene: RNASEH2B were set to
Early onset or syndromic epilepsy v0.607 RNASEH2B Rebecca Foulger commented on gene: RNASEH2B: Abdel-Salam, 2017 (PMID:28332073) report two siblings with AGS, both with seizures among their phenotypes. They
identified a previously known homozygous missense variant in exon 7 of the RNASEH2B gene, c.554T>G (p.V185G), and both parents were heterozygous for the variant.
Early onset or syndromic epilepsy v0.607 RNASEH2B Rebecca Foulger commented on gene: RNASEH2B: Rice et al 2007 (PMID:17846997) collected clinical data for 123 individuals from 94 families with variants in TREX1, RNASEH2A, RNASEH2B, or RNASEH2C. Seizures were reported in 53% of patients. 47 families harboured a RNASEH2B variant.
Early onset or syndromic epilepsy v0.607 RNASEH2B Rebecca Foulger commented on gene: RNASEH2B
Early onset or syndromic epilepsy v0.607 RNASEH2B Rebecca Foulger Phenotypes for gene: RNASEH2B were changed from Aicardi-Goutieres syndrome 2, MIM#610181 to Aicardi-Goutieres syndrome 2, 610181
Early onset or syndromic epilepsy v0.606 TREX1 Rebecca Foulger Marked gene: TREX1 as ready
Early onset or syndromic epilepsy v0.606 TREX1 Rebecca Foulger Gene: trex1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.606 TREX1 Rebecca Foulger Classified gene: TREX1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.606 TREX1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Confirmed DD-G2P gene for Aicardi-Goutières syndrome, which can present with seizures. Seizures also reported for SLE and RVCL patients (PMID:18583934). Sufficient (>3) cases of patients with seizures from PMID:29239743 and PMID:17846997 for inclusion on panel.
Early onset or syndromic epilepsy v0.606 TREX1 Rebecca Foulger Gene: trex1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.605 TREX1 Rebecca Foulger Publications for gene: TREX1 were set to 29239743; 15883328; 17846997; 17357087
Early onset or syndromic epilepsy v0.604 TREX1 Rebecca Foulger Added comment: Comment on phenotypes: PMID:18583934 (Kavanagh et al 2008) include seizures in the clinical phenotype of Retinal Vasculopathy with Cerebral Leukodystrophy (RVCL), Systemic Lupus Erythematosus (SLE) and Aicardi-Goutières Syndrome (AGS) (Table 2).
Early onset or syndromic epilepsy v0.604 TREX1 Rebecca Foulger Phenotypes for gene: TREX1 were changed from Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; seizures; Vasculopathy, retinal, with cerebral leukodystrophy, 192315; {Systemic lupus erythematosus, susceptibility to}, 152700 to Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; seizures; Vasculopathy, retinal, with cerebral leukodystrophy, 192315; {Systemic lupus erythematosus, susceptibility to}, 152700
Early onset or syndromic epilepsy v0.603 TREX1 Rebecca Foulger Phenotypes for gene: TREX1 were changed from Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; seizures to Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; seizures; Vasculopathy, retinal, with cerebral leukodystrophy, 192315; {Systemic lupus erythematosus, susceptibility to}, 152700
Early onset or syndromic epilepsy v0.602 PEX7 Sarah Leigh Marked gene: PEX7 as ready
Early onset or syndromic epilepsy v0.602 PEX7 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Seizures are a part of the spectrum of features in this phenotype (Genomics England clinical fellow Arianna Tucci).At least 6 variants reported in at least 7 cases.
Early onset or syndromic epilepsy v0.602 PEX7 Sarah Leigh Gene: pex7 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.602 PEX2 Sarah Leigh Classified gene: PEX2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.602 PEX2 Sarah Leigh Gene: pex2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.601 PEX7 Sarah Leigh Publications for gene: PEX7 were set to
Early onset or syndromic epilepsy v0.600 PEX7 Sarah Leigh Phenotypes for gene: PEX7 were changed from to Rhizomelic chondrodysplasia punctata, type 1 215100
Early onset or syndromic epilepsy v0.599 PEX7 Sarah Leigh Mode of inheritance for gene: PEX7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.598 PEX7 Sarah Leigh Classified gene: PEX7 as Green List (high evidence)
Early onset or syndromic epilepsy v0.598 PEX7 Sarah Leigh Gene: pex7 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.597 PEX2 Sarah Leigh Classified gene: PEX2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.597 PEX2 Sarah Leigh Gene: pex2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.596 PEX2 Sarah Leigh gene: PEX2 was added
gene: PEX2 was added to Genetic Epilepsy Syndromes. Sources: Literature
Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX2 were set to 1546315; 14630978; 14630978
Phenotypes for gene: PEX2 were set to Peroxisome biogenesis disorder 5A (Zellweger) 614866
Review for gene: PEX2 was set to GREEN
Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Seizures are a major feature of this phenotype (Genomics England clinical fellow Arianna Tucci). At least 4 variants reported in at least 4 unrelated cases.
Sources: Literature
Early onset or syndromic epilepsy v0.595 PEX1 Sarah Leigh Marked gene: PEX1 as ready
Early onset or syndromic epilepsy v0.595 PEX1 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for Adrenoleukodystrophy. Seizures are a major feature of this phenotype (Genomics England clinical fellow Arianna Tucci). At least 5 variants reported in numerous unrelated cases.
Early onset or syndromic epilepsy v0.595 PEX1 Sarah Leigh Gene: pex1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.595 PEX1 Sarah Leigh Mode of inheritance for gene: PEX1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.594 PEX1 Sarah Leigh Publications for gene: PEX1 were set to
Early onset or syndromic epilepsy v0.593 PEX1 Sarah Leigh Added comment: Comment on phenotypes: Adrenoleukodystrophy from Gen2Phen
Early onset or syndromic epilepsy v0.593 PEX1 Sarah Leigh Phenotypes for gene: PEX1 were changed from Peroxisome biogenesis disorder 1A (Zellweger) 214100; Peroxisome biogenesis disorder 1B (NALD/IRD) 601539 to Peroxisome biogenesis disorder 1A (Zellweger) 214100; Peroxisome biogenesis disorder 1B (NALD/IRD) 601539; Adrenoleukodystrophy
Early onset or syndromic epilepsy v0.592 PEX1 Sarah Leigh Classified gene: PEX1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.592 PEX1 Sarah Leigh Gene: pex1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.591 PIK3R2 Sarah Leigh Marked gene: PIK3R2 as ready
Early onset or syndromic epilepsy v0.591 PIK3R2 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 3 activating gain of function variants reported in at least 8 cases.
Early onset or syndromic epilepsy v0.591 PIK3R2 Sarah Leigh Gene: pik3r2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.591 PIK3R2 Sarah Leigh Mode of pathogenicity for gene: PIK3R2 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Early onset or syndromic epilepsy v0.590 PIK3R2 Sarah Leigh Classified gene: PIK3R2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.590 PIK3R2 Sarah Leigh Gene: pik3r2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.589 PIK3R2 Sarah Leigh Publications for gene: PIK3R2 were set to
Early onset or syndromic epilepsy v0.588 PIK3R2 Sarah Leigh Phenotypes for gene: PIK3R2 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387
Early onset or syndromic epilepsy v0.587 MAGI2 Sarah Leigh Publications for gene: MAGI2 were set to 18565486
Early onset or syndromic epilepsy v0.586 MAGI2 Sarah Leigh Mode of inheritance for gene: MAGI2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.585 MAGI2 Sarah Leigh Phenotypes for gene: MAGI2 were changed from Infantile Spasms to Nephrotic syndrome, type 15 617609; Infantile Spasms
Early onset or syndromic epilepsy v0.584 MAGI2 Sarah Leigh Classified gene: MAGI2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.584 MAGI2 Sarah Leigh Gene: magi2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.583 MAGI2 Sarah Leigh Added comment: Comment on mode of inheritance: According to report of homozygous and compound heterozygous variants in OMIM, Gen2Phen reports as monoallelic.
Early onset or syndromic epilepsy v0.583 MAGI2 Sarah Leigh Mode of inheritance for gene: MAGI2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.582 GLRB Sarah Leigh Marked gene: GLRB as ready
Early onset or syndromic epilepsy v0.582 GLRB Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. However, one case in a large Saudi Arabian family was reported with seizures and a possible history of meningitis in infancy (PMID 21391991).
Early onset or syndromic epilepsy v0.582 GLRB Sarah Leigh Gene: glrb has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.582 GLRB Sarah Leigh Mode of inheritance for gene: GLRB was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.581 GLRB Sarah Leigh Phenotypes for gene: GLRB were changed from to Hyperekplexia 2 614619
Early onset or syndromic epilepsy v0.580 GLRB Sarah Leigh Publications for gene: GLRB were set to
Early onset or syndromic epilepsy v0.579 GLRA1 Sarah Leigh Marked gene: GLRA1 as ready
Early onset or syndromic epilepsy v0.579 GLRA1 Sarah Leigh Added comment: Comment when marking as ready: At least 15 variants have been reported in cases with Hyperekplexia 1 149400, however, the seizures associated with this disorder to not have concomitant discharges on EEG analysis.
Early onset or syndromic epilepsy v0.579 GLRA1 Sarah Leigh Gene: glra1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.579 GLRA1 Sarah Leigh Publications for gene: GLRA1 were set to 29602144
Early onset or syndromic epilepsy v0.578 GLRA1 Sarah Leigh Classified gene: GLRA1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.578 GLRA1 Sarah Leigh Gene: glra1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.577 GLRA1 Sarah Leigh Publications for gene: GLRA1 were set to
Early onset or syndromic epilepsy v0.576 GLRA1 Sarah Leigh Phenotypes for gene: GLRA1 were changed from to Hyperekplexia 1 149400
Early onset or syndromic epilepsy v0.575 GLRA1 Sarah Leigh Mode of inheritance for gene: GLRA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.574 TSC1 Sarah Leigh Classified gene: TSC1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.574 TSC1 Sarah Leigh Gene: tsc1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.573 ST3GAL5 Sarah Leigh Publications for gene: ST3GAL5 were set to
Early onset or syndromic epilepsy v0.572 ST3GAL5 Sarah Leigh Mode of inheritance for gene: ST3GAL5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.571 ST3GAL5 Sarah Leigh Phenotypes for gene: ST3GAL5 were changed from to Salt and pepper developmental regression syndrome 609056
Early onset or syndromic epilepsy v0.570 ST3GAL5 Sarah Leigh Classified gene: ST3GAL5 as Green List (high evidence)
Early onset or syndromic epilepsy v0.570 ST3GAL5 Sarah Leigh Gene: st3gal5 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.569 PRICKLE1 Sarah Leigh Publications for gene: PRICKLE1 were set to
Early onset or syndromic epilepsy v0.568 PRICKLE1 Sarah Leigh Phenotypes for gene: PRICKLE1 were changed from to Epilepsy, progressive myoclonic 1B 612437
Early onset or syndromic epilepsy v0.567 PRICKLE1 Sarah Leigh Mode of inheritance for gene: PRICKLE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.566 PRICKLE1 Sarah Leigh Classified gene: PRICKLE1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.566 PRICKLE1 Sarah Leigh Gene: prickle1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.565 NHLRC1 Sarah Leigh Publications for gene: NHLRC1 were set to
Early onset or syndromic epilepsy v0.564 NHLRC1 Sarah Leigh Phenotypes for gene: NHLRC1 were changed from to Epilepsy, progressive myoclonic 2B (Lafora) 254780
Early onset or syndromic epilepsy v0.563 NHLRC1 Sarah Leigh Classified gene: NHLRC1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.563 NHLRC1 Sarah Leigh Gene: nhlrc1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.562 MOCS2 Sarah Leigh Phenotypes for gene: MOCS2 were changed from to Molybdenum cofactor deficiency B 252160
Early onset or syndromic epilepsy v0.561 MOCS2 Sarah Leigh Mode of inheritance for gene: MOCS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.560 MOCS2 Sarah Leigh Classified gene: MOCS2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.560 MOCS2 Sarah Leigh Gene: mocs2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.559 MOCS1 Sarah Leigh Phenotypes for gene: MOCS1 were changed from to Molybdenum cofactor deficiency A 252150
Early onset or syndromic epilepsy v0.558 MOCS1 Sarah Leigh Mode of inheritance for gene: MOCS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.557 MOCS1 Sarah Leigh Classified gene: MOCS1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.557 MOCS1 Sarah Leigh Gene: mocs1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.556 DCX Sarah Leigh Classified gene: DCX as Green List (high evidence)
Early onset or syndromic epilepsy v0.556 DCX Sarah Leigh Gene: dcx has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.555 DCX Sarah Leigh Phenotypes for gene: DCX were changed from to Lissencephaly, X-linked 300067; Subcortical laminal heterotopia, X-linked 300067
Early onset or syndromic epilepsy v0.554 DCX Sarah Leigh Mode of inheritance for gene: DCX was changed from to 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 v0.553 VARS Sarah Leigh Marked gene: VARS as ready
Early onset or syndromic epilepsy v0.553 VARS Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. Seizures identified in sufficient unrelated cases for VARS to be rated green on the Genetic Epilepsy syndromes panel.
Early onset or syndromic epilepsy v0.553 VARS Sarah Leigh Gene: vars has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.553 VARS Sarah Leigh Phenotypes for gene: VARS were changed from # 617802. NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY; NDMSCA to Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 617802
Early onset or syndromic epilepsy v0.552 VARS Sarah Leigh Classified gene: VARS as Green List (high evidence)
Early onset or syndromic epilepsy v0.552 VARS Sarah Leigh Gene: vars has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.551 TRAF7 Sarah Leigh Marked gene: TRAF7 as ready
Early onset or syndromic epilepsy v0.551 TRAF7 Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. However, OMIM for this gene has not been updated since 04/01/2013. Review from Konstantinos Varvagiannis suggests sufficient evidence exists for TRAF7 to be amber on this panel and possibly green.
Early onset or syndromic epilepsy v0.551 TRAF7 Sarah Leigh Gene: traf7 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.551 TRAF7 Sarah Leigh Classified gene: TRAF7 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.551 TRAF7 Sarah Leigh Gene: traf7 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.550 KARS Sarah Leigh Marked gene: KARS as ready
Early onset or syndromic epilepsy v0.550 KARS Sarah Leigh Added comment: Comment when marking as ready: Although seizures are not present in all cases of ?Charcot-Marie-Tooth disease, recessive intermediate, B 613641 or Deafness, autosomal recessive 89 613916, seizures have been reported in at least 5 cases carrying a total of 10 KARS variants AS compound heterozygotes.
Early onset or syndromic epilepsy v0.550 KARS Sarah Leigh Gene: kars has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.550 KARS Sarah Leigh Classified gene: KARS as Green List (high evidence)
Early onset or syndromic epilepsy v0.550 KARS Sarah Leigh Gene: kars has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.549 CACNA1E Sarah Leigh Marked gene: CACNA1E as ready
Early onset or syndromic epilepsy v0.549 CACNA1E Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. PMID reports 30343943 "de novo CACNA1E variants in 30 individuals with DEE, characterized by refractory infantile-onset seizures, severe hypotonia, and profound developmental impairment, often with congenital contractures, macrocephaly, hyperkinetic movement disorders, and early death."
Early onset or syndromic epilepsy v0.549 CACNA1E Sarah Leigh Gene: cacna1e has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.549 CACNA1E Sarah Leigh Publications for gene: CACNA1E were set to 29942082
Early onset or syndromic epilepsy v0.548 CACNA1E Sarah Leigh Classified gene: CACNA1E as Green List (high evidence)
Early onset or syndromic epilepsy v0.548 CACNA1E Sarah Leigh Gene: cacna1e has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.547 PIGG Sarah Leigh Marked gene: PIGG as ready
Early onset or syndromic epilepsy v0.547 PIGG Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 3 variants, plus one 2.4mb deletion encompassing the PIGG gene reported in three unrelated cases.
Early onset or syndromic epilepsy v0.547 PIGG Sarah Leigh Gene: pigg has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.547 PIGG Sarah Leigh Classified gene: PIGG as Green List (high evidence)
Early onset or syndromic epilepsy v0.547 PIGG Sarah Leigh Gene: pigg has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.546 PIGG Sarah Leigh Phenotypes for gene: PIGG were changed from # 616917. MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53 to Mental retardation, autosomal recessive 53 616917
Early onset or syndromic epilepsy v0.545 TREX1 Rebecca Foulger Publications for gene: TREX1 were set to 29239743; 15883328
Early onset or syndromic epilepsy v0.545 TREX1 Rebecca Foulger Publications for gene: TREX1 were set to 29239743; 15883328
Early onset or syndromic epilepsy v0.544 TREX1 Rebecca Foulger commented on gene: TREX1: Rice et al 2007 (PMID:17846997) collected clinical data for 123 individuals from 94 families with variants in TREX1, RNASEH2A, RNASEH2B, or RNASEH2C. Five individuals with TREX1 biallelic variants experienced neonatal seizures (Table 2).
Early onset or syndromic epilepsy v0.544 TSEN34 Rebecca Foulger commented on gene: TSEN34
Early onset or syndromic epilepsy v0.544 TSEN34 Rebecca Foulger Publications for gene: TSEN34 were set to 18711368
Early onset or syndromic epilepsy v0.543 TSEN34 Rebecca Foulger Mode of inheritance for gene: TSEN34 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.542 TSEN34 Rebecca Foulger Publications for gene: TSEN34 were set to
Early onset or syndromic epilepsy v0.541 TSEN34 Rebecca Foulger Phenotypes for gene: TSEN34 were changed from to ?Pontocerebellar hypoplasia type 2C, 612390
Early onset or syndromic epilepsy v0.540 TREX1 Rebecca Foulger commented on gene: TREX1: PMID:29239743 reviewed the records of 24 unrelated patients with Aicardi-Goutières syndrome from 6 tertiary hospitals in different Arab countries. The most common presenting signs were developmental delay and seizures. 1 patient (patient 23) had a biallelic variant in TREX1 (c.341G>A) and presented with seizures. The patient presented in utero.
Early onset or syndromic epilepsy v0.540 TREX1 Rebecca Foulger Publications for gene: TREX1 were set to
Early onset or syndromic epilepsy v0.539 TREX1 Rebecca Foulger Added comment: Comment on mode of inheritance: AR and AD mode of inheritance supported by OMIM.
Early onset or syndromic epilepsy v0.539 TREX1 Rebecca Foulger Mode of inheritance for gene: TREX1 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.538 TREX1 Rebecca Foulger Phenotypes for gene: TREX1 were changed from Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 to Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; seizures
Early onset or syndromic epilepsy v0.537 TREX1 Rebecca Foulger Phenotypes for gene: TREX1 were changed from to Aicardi-Goutieres syndrome 1, dominant and recessive, 225750
Early onset or syndromic epilepsy v0.536 TRIM8 Rebecca Foulger Marked gene: TRIM8 as ready
Early onset or syndromic epilepsy v0.536 TRIM8 Rebecca Foulger Gene: trim8 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.536 TRIM8 Rebecca Foulger Phenotypes for gene: TRIM8 were changed from to Early-onset epileptic encephalopathy (EOEE); EE; Seizures
Early onset or syndromic epilepsy v0.535 TRIM8 Rebecca Foulger Publications for gene: TRIM8 were set to
Early onset or syndromic epilepsy v0.534 TRIM8 Rebecca Foulger Mode of inheritance for gene: TRIM8 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.533 TRIM8 Rebecca Foulger Classified gene: TRIM8 as Green List (high evidence)
Early onset or syndromic epilepsy v0.533 TRIM8 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: 6 unrelated cases of patients with EE and TRIM8 variants reviewed by the recent PMID:30244534 (includes the two cases previously reported cases in PMID:27346735 and PMID:23934111 plus 4 new cases). Therefore sufficient evidence to support inclusion on diagnostic panel.
Early onset or syndromic epilepsy v0.533 TRIM8 Rebecca Foulger Gene: trim8 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.532 TRIP13 Rebecca Foulger Marked gene: TRIP13 as ready
Early onset or syndromic epilepsy v0.532 TRIP13 Rebecca Foulger Gene: trip13 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.532 TRIP13 Rebecca Foulger Classified gene: TRIP13 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.532 TRIP13 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber: 2 patients with seizures and TRIP13 variants reported in Yost et al., 2017 (PMID:28553959). Further cases needed for inclusion on diagnostic panel.
Early onset or syndromic epilepsy v0.532 TRIP13 Rebecca Foulger Gene: trip13 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.531 TRIP13 Rebecca Foulger Phenotypes for gene: TRIP13 were changed from to Mosaic variegated aneuploidy syndrome 3, 617598
Early onset or syndromic epilepsy v0.530 TRIP13 Rebecca Foulger commented on gene: TRIP13
Early onset or syndromic epilepsy v0.530 TRIP13 Rebecca Foulger Tag watchlist tag was added to gene: TRIP13.
Early onset or syndromic epilepsy v0.530 TRIP13 Rebecca Foulger Mode of inheritance for gene: TRIP13 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.529 TSEN2 Rebecca Foulger Marked gene: TSEN2 as ready
Early onset or syndromic epilepsy v0.529 TSEN2 Rebecca Foulger Gene: tsen2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.529 TSEN2 Rebecca Foulger Classified gene: TSEN2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.529 TSEN2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Seizures are a clinical symptom of Pontocerebellar hypoplasia in some cases, and three patients with seizures and TSEN2 variants reported (PMID:23562994, 20952379).
Early onset or syndromic epilepsy v0.529 TSEN2 Rebecca Foulger Gene: tsen2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.528 TSEN2 Rebecca Foulger Added comment: Comment on phenotypes: Have updated phenotype to match OMIM. According to OMIM, MIM:617026 ( Pontocerebellar hypoplasia, type 2F) is caused by variants in TSEN15.
Early onset or syndromic epilepsy v0.528 TSEN2 Rebecca Foulger Phenotypes for gene: TSEN2 were changed from to Pontocerebellar hypoplasia type 2B, 612389
Early onset or syndromic epilepsy v0.527 TSEN2 Rebecca Foulger Mode of inheritance for gene: TSEN2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.526 TSEN54 Rebecca Foulger Marked gene: TSEN54 as ready
Early onset or syndromic epilepsy v0.526 TSEN54 Rebecca Foulger Gene: tsen54 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.526 TSEN54 Rebecca Foulger Classified gene: TSEN54 as Green List (high evidence)
Early onset or syndromic epilepsy v0.526 TSEN54 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green. Seizures are a clinical phenotype of both MIM:277470 and MIM:225753. Sufficient (>3) cases of seizures in Pontocerebellar hypoplasia patients with TSEN54 variants for inclusion on panel (PMIDs 20956791,7854532,26701950,20952379).
Early onset or syndromic epilepsy v0.526 TSEN54 Rebecca Foulger Gene: tsen54 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.525 TSEN54 Rebecca Foulger Publications for gene: TSEN54 were set to 20956791,7854532,26701950,20952379
Early onset or syndromic epilepsy v0.524 TSEN54 Rebecca Foulger Publications for gene: TSEN54 were set to
Early onset or syndromic epilepsy v0.523 TSEN54 Rebecca Foulger Mode of inheritance for gene: TSEN54 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.522 TSEN54 Rebecca Foulger Phenotypes for gene: TSEN54 were changed from to Pontocerebellar hypoplasia type 4, 225753; Pontocerebellar hypoplasia type 2A, 277470; ?Pontocerebellar hypoplasia type 5, 610204
Early onset or syndromic epilepsy v0.521 TSFM Rebecca Foulger Marked gene: TSFM as ready
Early onset or syndromic epilepsy v0.521 TSFM Rebecca Foulger Gene: tsfm has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.521 TSFM Rebecca Foulger Classified gene: TSFM as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.521 TSFM Rebecca Foulger Added comment: Comment on list classification: Rated gene as Amber: Phenotype is appropriate for panel since MIM:610505 can present with seizures. Variants in TSFM are causative for combined oxidative phosphorylation deficiency-3 (MIM:610505) but seizures reported in only 2 unrelated patients so far (PMID:17033963 and 21119709). Further reports of seizures/epilepsy as part of MIM:610505 are required for a diagnostic rating.
Early onset or syndromic epilepsy v0.521 TSFM Rebecca Foulger Gene: tsfm has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.520 TSFM Rebecca Foulger commented on gene: TSFM: Smits et al (PMID:21119709) identified a homozygous R333W mutation in a patient with MIM:610505. The patient had epilepsy.
Early onset or syndromic epilepsy v0.520 TSFM Rebecca Foulger commented on gene: TSFM: Added 'watchlist' tag.
Early onset or syndromic epilepsy v0.520 TSFM Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI confirmed by OMIM.
Early onset or syndromic epilepsy v0.520 TSFM Rebecca Foulger Mode of inheritance for gene: TSFM was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.519 TSFM Rebecca Foulger Publications for gene: TSFM were set to
Early onset or syndromic epilepsy v0.518 TSFM Rebecca Foulger Phenotypes for gene: TSFM were changed from to Combined oxidative phosphorylation deficiency 3, 610505; seizures
Early onset or syndromic epilepsy v0.517 TSFM Rebecca Foulger Tag watchlist tag was added to gene: TSFM.
Early onset or syndromic epilepsy v0.517 TSFM Rebecca Foulger commented on gene: TSFM
Early onset or syndromic epilepsy v0.517 TUBA8 Rebecca Foulger Marked gene: TUBA8 as ready
Early onset or syndromic epilepsy v0.517 TUBA8 Rebecca Foulger Added comment: Comment when marking as ready: Amber rating appropriate until further TUBA8 cases are confirmed. Added 'watchlist' tag.
Early onset or syndromic epilepsy v0.517 TUBA8 Rebecca Foulger Gene: tuba8 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.517 TUBA8 Rebecca Foulger Phenotypes for gene: TUBA8 were changed from Cortical dysplasia, complex, with other brain malformations 8, 613180 to Cortical dysplasia, complex, with other brain malformations 8, 613180; seizures
Early onset or syndromic epilepsy v0.516 TUBA8 Rebecca Foulger Tag watchlist tag was added to gene: TUBA8.
Early onset or syndromic epilepsy v0.516 TUBA8 Rebecca Foulger Classified gene: TUBA8 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.516 TUBA8 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber. The phenotype is appropriate for the panel as seizures are part of MIM:613180, but insufficient cases for diagnostic rating. TUBA8 is a confirmed DD-G2P gene for 'POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA' (the former name for Cortical dysplasia, complex, with other brain malformations 8, 613180), and TUBA8 is on the UKGTN 43 gene panel for brain malformations. HOWEVER, the 4 literature cases (with all 4 patients showing seizures) come from 2 consanguineous families reported in one 2009 paper (PMID:19896110), and at least PMID:25008804 questions whether the families are related.

Leeds, Oxford (Usha Kini) and Cardiff genetic testing labs all confirmed (personal communication via email) that they have not seen any TUBA8 cases for their cortical malformations panel.

Based on this evidence, Helen Brittain, Clinical Fellow agreed on Amber rating for TUBA8.
Early onset or syndromic epilepsy v0.516 TUBA8 Rebecca Foulger Gene: tuba8 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.515 PEX10 Sarah Leigh Classified gene: PEX10 as Green List (high evidence)
Early onset or syndromic epilepsy v0.515 PEX10 Sarah Leigh Gene: pex10 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.514 PEX10 Sarah Leigh gene: PEX10 was added
gene: PEX10 was added to Genetic Epilepsy Syndromes. Sources: Literature
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX10 were set to 20695019
Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger) 614870
Review for gene: PEX10 was set to GREEN
Added comment: Associated with phenotypes in OMIM and confirmed in Gen2Phen. At least 4 variants in Peroxisome biogenesis disorder 6A (Zellweger) 614870 in at least 2 cases which includes hepatomegaly (according to Gen2Phen). Seizures are a major feature of this phenotype (clinical fellow Arianna Tucci).
Sources: Literature
Early onset or syndromic epilepsy v0.513 PEX13 Sarah Leigh Classified gene: PEX13 as Green List (high evidence)
Early onset or syndromic epilepsy v0.513 PEX13 Sarah Leigh Gene: pex13 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.512 PEX13 Sarah Leigh gene: PEX13 was added
gene: PEX13 was added to Genetic Epilepsy Syndromes. Sources: Literature
Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX13 were set to 10332040; 19449432
Phenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11A (Zellweger) 614883
Review for gene: PEX13 was set to GREEN
Added comment: Associated with phenotypes in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in Peroxisome biogenesis disorder 11A (Zellweger) 614883. Seizures are a major feature of this phenotype (clinical fellow Arianna Tucci).
Sources: Literature
Early onset or syndromic epilepsy v0.511 GTPBP2 Louise Daugherty Added comment: Comment on phenotypes: added additional phenotype suggested by external reviewer
Early onset or syndromic epilepsy v0.511 GTPBP2 Louise Daugherty Phenotypes for gene: GTPBP2 were changed from Jaberi-Elahi syndrome 617988 to Jaberi-Elahi syndrome 617988; Global developmental delay; Intellectual disability; Seizures
Early onset or syndromic epilepsy v0.510 KCNK4 Louise Daugherty Classified gene: KCNK4 as Green List (high evidence)
Early onset or syndromic epilepsy v0.510 KCNK4 Louise Daugherty Added comment: Comment on list classification: Based on evidence in the literature and from external review, Sarah Leigh on 16 Oct 2018 classified gene: KCNK4 as Green List (high evidence) on Genetic Epilepsy Syndromes panel v0.504. However, due to a data outage in PanelApp at the time the rating of this particular gene on this panel was not updated eg: the rating of a gene was changed, but was not reflected in production however action was logged in the activity. Issue has now been solved so the rating of this gene is now being changed to Green as it will now be reflected in production to represent the required update
Early onset or syndromic epilepsy v0.510 KCNK4 Louise Daugherty Gene: kcnk4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.509 RAB11B Louise Daugherty Added comment: Comment on phenotypes: Added phenotype as suggested by external review and checked with OMIM
Early onset or syndromic epilepsy v0.509 RAB11B Louise Daugherty Phenotypes for gene: RAB11B were changed from to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807
Early onset or syndromic epilepsy v0.508 RAB11B Louise Daugherty Added comment: Comment on mode of inheritance: updated MOI as suggested by external reviewer
Early onset or syndromic epilepsy v0.508 RAB11B Louise Daugherty Mode of inheritance for gene: RAB11B was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.507 MFSD8 Louise Daugherty edited their review of gene: MFSD8: Changed publications: 30249282, 30144815, 30301600, 28586915
Early onset or syndromic epilepsy v0.507 MFSD8 Louise Daugherty reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 28586915; Phenotypes: MFSD8-related neuronal ceroid lipofuscinosis, CLN7 disease, late infantile; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.507 GLUD1 Zornitza Stark reviewed gene: GLUD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19046187; Phenotypes: Hyperinsulinism-hyperammonemia syndrome, MIM#606762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Early onset or syndromic epilepsy v0.507 GLUD1 Zornitza Stark Deleted their review
Early onset or syndromic epilepsy v0.507 TRIM8 Zornitza Stark edited their review of gene: TRIM8: Added comment: Please note new publication reporting 4 additional patients presenting with EE and de novo truncating mutations of TRIM8.; Changed rating: GREEN; Changed publications: 27346735, 30244534; Set current diagnostic: yes
Early onset or syndromic epilepsy v0.507 CACNA1E Zornitza Stark reviewed gene: CACNA1E: Rating: GREEN; Mode of pathogenicity: None; Publications: Am J Hum Genet, Helbig et al, not yet on PubMed; Phenotypes: epileptic encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Early onset or syndromic epilepsy v0.507 CACNA1E Konstantinos Varvagiannis gene: CACNA1E was added
gene: CACNA1E was added to Genetic Epilepsy Syndromes. Sources: Expert Review,Literature
Mode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNA1E were set to 29942082
Phenotypes for gene: CACNA1E were set to Global developmental delay; Intellectual disability; Seizures; Dystonia; Congenital contracture; Macrocephaly
Penetrance for gene: CACNA1E were set to Incomplete
Mode of pathogenicity for gene: CACNA1E was set to Other
Review for gene: CACNA1E was set to GREEN
Added comment: Helbig et al. (https://doi.org/10.1016/j.ajhg.2018.09.006) report on 30 individuals with pathogenic variants in CACNA1E.

The phenotype was consistent with a developmental and epileptic encephalopathy, with hypotonia, early-onset and refractory seizures, severe to profound developmental delay and intellectual disability. Additional relatively common features included hyperkinetic movement disorder (severe dystonia which was observed in 40%, other dyskinesias in another 20%), congenital joint contractures of variable degree and joint involvement (approx. 40% of individuals) and macrocephaly (approx. 40%). There were no common facial dysmorphic features observed.

Of note, epilepsy was not a feature in 4 cases (age 1 to 4 years) so few of these individuals may be investigated for their developmental delay/intellectual disability or other features.

Missense variants:
All the 30 subjects described harbored a missense variant in CACNA1E which in all cases where parental studies were possible (29/30) occurred as a de novo event. There were 4 recurrent variants, explaining the phenotype in 20 patients in total while the rest of the individuals had private mutations. Functional studies were performed and suggested a gain-of-function effect for these variants (increased calcium inward currents).

Loss-of-function (LoF) variants:
Apart from the main cohort of patients, the authors note the presence of 3 individuals with such variants incl.:
- one individual with a nonsense variant present in the mosaic state (6/22 reads) in peripheral blood.
- one individual with a frameshift variant inherited from his unaffected parent.
- one individual with a nonsense variant for whom parental studies were not possible.

The authors comment that these indivdiduals presented with milder phenotype compared to those with missense variants. More information on these subjects is provided in the supplement as the article focuses on missense SNVs.

As the authors also note, several LoF variants exist in gnomAD, although the gene appears to be LoF intolerant (pLI=1).

Penetrance:
Seems to be complete for missense SNVs and possibly incomplete for LoF ones.

---

A previous study by Heyne et al. (PMID: 29942082) implicated de novo variants (DNVs) in CACNA1E with neurodevelopmental disorders for the first time. This study however does not provide clinical details on the phenotype of the affected individuals, while it seems to present overlap as to the individuals reported (eg. includes subjects from the DDD study and others).

---

Details as to a few - possibly further - de novo coding variants reported to date can be found at the denovo-db:
http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=CACNA1E

---

As a result this gene can be considered for inclusion in this panel as green.
Sources: Expert Review, Literature
Early onset or syndromic epilepsy v0.507 ADAT3 Sarah Leigh Classified gene: ADAT3 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.507 ADAT3 Sarah Leigh Added comment: Comment on list classification: Based one only two variants one of which is a founder
Early onset or syndromic epilepsy v0.507 ADAT3 Sarah Leigh Gene: adat3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.506 CSTB Sarah Leigh Classified gene: CSTB as Green List (high evidence)
Early onset or syndromic epilepsy v0.506 CSTB Sarah Leigh Added comment: Comment on list classification: Changing rating to green in agreement with reviews
Early onset or syndromic epilepsy v0.506 CSTB Sarah Leigh Gene: cstb has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.505 TRIM8 Konstantinos Varvagiannis reviewed gene: TRIM8: Rating: GREEN; Mode of pathogenicity: None; Publications: 30244534, 27346735, 23934111; Phenotypes: Global developmental delay, Intellectual disability, Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.505 VARS Konstantinos Varvagiannis gene: VARS was added
gene: VARS was added to Genetic Epilepsy Syndromes. Sources: Expert Review,Literature
Mode of inheritance for gene: VARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VARS were set to 26539891; 29691655; 30275004
Phenotypes for gene: VARS were set to # 617802. NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY; NDMSCA
Penetrance for gene: VARS were set to Complete
Review for gene: VARS was set to GREEN
Added comment: PMID: 26539891 is the first report on individuals with biallelic pathogenic variants in VARS. 3 individuals from 2 consanguineous families are briefly reported. The phenotype was similar in all 3, consisting of severe developmental delay, microcephaly, seizures and cortical atrophy. Subjects from the first family were homozygous for a missense variant in the tRNA synthetase catalytic domain [p.(L885F)]. The patient from the second family was homozygous for a missense SNV affecting the anticodon-binding domain [p.(R1058Q)].

PMID: 29691655 reports on a further patient born to non-consanguineous parents, with 2 in-trans pathogenic variants in VARS. The phenotype consisted of progressive microcephaly (OFC at birth -2SD, at the age of 2 months -4SD), global developmental delay, seizures and progressive cerebral and cerebellar atrophy. An affected brother presented with more severe phenotype (OFC -6SD at birth and -8SD at 2 months of age), seizures, hearing loss but was deceased and unavailable for genetic testing. cDNA studies demonstrated absence of the reference allele for the missense mutation downstream the splice variant (in line with a reduced or absent mRNA allele harboring the splice variant). Similarly, mRNA expression studies demonstrated 50-60% reduction in the transcripts (due to NMD of the allele with the splice SNV). Western blot showed severe reduction in protein levels (more pronounced compared to what would be expected by mRNA expression) presumably secondary to decreased protein stability due to the missense variant. Severe defects in aminoacylation were further confirmatory of a pathogenic role of these variants. The missense variant was affecting the anticodon-binding domain, important for aminoacylation.

PMID: 30275004 reports on 2 siblings with developmental delay, intellectual disability, severe speech impairment and microcephaly, similar to what has been described for the disorder. Clinical findings were somewhat different from previous studies in that microcephaly was acquired, while seizures and cortical atrophy were not part of the phenotype. Both sibs were compound heterozygous for 2 missense variants, though only one of these mutations affected the anticodon binding domain and the other was in the N-terminal region of the protein. Previous metabolic studies and extensive genetic testing (karyotype, CMA, MECP2, FMR1) was normal.

Epilepsy was a feature in 4 of the 6 individuals for whom genetic testing was possible (or 5/7 in total).

VARS belongs to the family of amino acyl-tRNA synthetases (ARSs). Mutations in several cytoplasmic ARSs are associated with severe neurological manifestations including seizures, intellectual disability associated with microcephaly.

VARS is included in gene panels for intellectual disability (but not for epilepsy) offered by different diagnostic labs.

As a result this gene can be considered for inclusion in the ID and epilepsy panel as green (or amber).
Sources: Expert Review, Literature
Early onset or syndromic epilepsy v0.505 KARS Konstantinos Varvagiannis gene: KARS was added
gene: KARS was added to Genetic Epilepsy Syndromes. Sources: Literature,Expert Review
Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KARS were set to 29615062; 30252186; 28496994
Phenotypes for gene: KARS were set to Global developmental delay; Intellectual disability; Seizures; Charcot-Marie-Tooth disease, recessive intermediate, B - 613641; Deafness, autosomal recessive 89 - 613916
Penetrance for gene: KARS were set to Complete
Review for gene: KARS was set to GREEN
Added comment: Several individuals with biallelic pathogenic variants in KARS have been reported (summarized in PMIDs : 29615062, 30252186, 28496994).

Developmental delay and/or intellectual disability are among the (most) frequent features, although not universal.

Seizures are part of the phenotype (15-30% of the individuals) according to the tables provided in these 3 publications.

As a result it can be considered for inclusion in the epilepsy panel as green (or amber).
Sources: Literature, Expert Review
Early onset or syndromic epilepsy v0.505 PIGW Konstantinos Varvagiannis reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: None; Publications: 30078644; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Early onset or syndromic epilepsy v0.505 GATAD2B Sarah Leigh Marked gene: GATAD2B as ready
Early onset or syndromic epilepsy v0.505 GATAD2B Sarah Leigh Added comment: Comment when marking as ready: Seizures do not appear to be a feature associated with variants in this gene.
Early onset or syndromic epilepsy v0.505 GATAD2B Sarah Leigh Gene: gatad2b has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.505 CBL Sarah Leigh commented on gene: CBL
Early onset or syndromic epilepsy v0.505 ST3GAL5 Sarah Leigh Marked gene: ST3GAL5 as ready
Early onset or syndromic epilepsy v0.505 ST3GAL5 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 4 variants reported in at least 4 unrelated cases.
Early onset or syndromic epilepsy v0.505 ST3GAL5 Sarah Leigh Gene: st3gal5 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.505 PRICKLE1 Sarah Leigh Marked gene: PRICKLE1 as ready
Early onset or syndromic epilepsy v0.505 PRICKLE1 Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in unrelated cases.
Early onset or syndromic epilepsy v0.505 PRICKLE1 Sarah Leigh Gene: prickle1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.505 NHLRC1 Sarah Leigh Marked gene: NHLRC1 as ready
Early onset or syndromic epilepsy v0.505 NHLRC1 Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 7 variants identified in unrelated cases.
Early onset or syndromic epilepsy v0.505 NHLRC1 Sarah Leigh Gene: nhlrc1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.505 MOCS2 Sarah Leigh Marked gene: MOCS2 as ready
Early onset or syndromic epilepsy v0.505 MOCS2 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 9 variants reported.
Early onset or syndromic epilepsy v0.505 MOCS2 Sarah Leigh Gene: mocs2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.505 MOCS1 Sarah Leigh Marked gene: MOCS1 as ready
Early onset or syndromic epilepsy v0.505 MOCS1 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in unrelated cases.
Early onset or syndromic epilepsy v0.505 MOCS1 Sarah Leigh Gene: mocs1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.505 DCX Sarah Leigh Marked gene: DCX as ready
Early onset or syndromic epilepsy v0.505 DCX Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 14 variants reported.
Early onset or syndromic epilepsy v0.505 DCX Sarah Leigh Gene: dcx has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.505 CSTB Sarah Leigh Mode of inheritance for gene: CSTB was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.504 ADAT3 Konstantinos Varvagiannis gene: ADAT3 was added
gene: ADAT3 was added to Genetic Epilepsy Syndromes. Sources: Expert Review,Literature
Mode of inheritance for gene: ADAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAT3 were set to 23620220; 26842963; 30296593; 29796286
Phenotypes for gene: ADAT3 were set to # 615286. MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36
Penetrance for gene: ADAT3 were set to Complete
Review for gene: ADAT3 was set to GREEN
Added comment: Initially reported in PMID 23620220, the findings in several individuals with biallelic ADAT3 pathogenic variants (including also those from the first report) are summarized in PMID 26842963.

A total of 39 individuals from 19 consanguineous families are described in the two studies. These individuals were homozygous for a specific missense variant (probably a Saudi Arabian founder mutation).

The common phenotype consists of intellectual disability (39/39 patients) and strabismus (32/39). Additional features included failure to thrive (33/39), microcephaly (22/39), short stature (11 of 15 individuals for whom this was information was available).

Epilepsy was observed in some of these individuals (6/39).

A few facial features were more common, although there was no distinct facial gestalt. //

PMID 30296593 reports on 2 additional subjects born to consanguineous parents and found to be homozygous for the same missense variant. These individuals presented with features similar to the previous reports (although none of them was reported to have seizures). //

Of note, the variant is either referred to as V144M (using NM_138422.2 or NM_138422.3) or as V128M (using NM_138422.1 as a reference / c.382G>A) as in the initial report. [ClinVar : https://www.ncbi.nlm.nih.gov/clinvar/variation/183301/#summary-evidence]

PMID 29796286 describes a 6-year-old female, born to consanguineous Iranian parents, investigated for developmental delay,intellectual disability, behavioral difficulties as well as microcephaly. A homozygous 8-basepair duplication in ADAT3 was identified by exome and was further confirmed by Sanger sequencing. This individual did not have seizures. //

This gene is included in DD/ID (but not epilepsy) panels offered by different diagnostic labs. //

As a result this gene can be considered for inclusion in the epilepsy panel as green (or amber).
Sources: Expert Review, Literature
Early onset or syndromic epilepsy v0.504 HLCS Sarah Leigh Mode of inheritance for gene: HLCS was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.504 KCNK4 Sarah Leigh Classified gene: KCNK4 as Green List (high evidence)
Early onset or syndromic epilepsy v0.504 KCNK4 Sarah Leigh Gene: kcnk4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.504 HLCS Sarah Leigh Mode of inheritance for gene: HLCS was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.503 NBEA Konstantinos Varvagiannis gene: NBEA was added
gene: NBEA was added to Genetic Epilepsy Syndromes. Sources: Expert Review,Literature
Mode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NBEA were set to 30269351; 28554332; 12746398; 12826745; 11450821; 3377648; 23277425; 22109531; 23153818
Phenotypes for gene: NBEA were set to Global developmental delay; Intellectual disability; Seizures
Penetrance for gene: NBEA were set to unknown
Review for gene: NBEA was set to GREEN
Added comment: PMID: 30269351 is a collaborative study reporting on 24 individuals with pathogenic de novo variants affecting NBEA.

All subjects presented with neurodevelopmental disorder including developmental delay or intellectual disability. Half of the patients (12/24) had autistic features or autism.

Epilepsy was a feature in 15/24 (62.5%) of patients with onset before the age of 4 years in the majority (approx. 85%). Of the 15 patients with seizures, 80% presented with generalized seizures of variable type (myoclonic, atonic and/or myoclonic-atonic, absence, tonic, clonic or tonic-clonic), 6.67% with focal seizures only and 13.33% with unclassified seizure type.

Other features included developmental microcephaly (or borderilne microcephaly) in 3/24 individuals or developmental regression in 2/24.

Among the variants identified:
8/24 were stopgain SNVs
5/24 were frameshift
4/24 were missense SNVs
1/24 was a splice site SNV
5/24 concerned an intragenic NBEA deletion
1/24 concerned a 2.87 Mb deletion spanning NBEA as well as additional genes (none of latter associated with disease in OMIM).

Two of these individuals were reported in a previously published study of children with DD/ID (PMID: 28554332).

Individuals with developmental disorders and de novo coding mutations in NBEA have been reported in further publications including the DDD study (PMID: 28135719 - subject DDD4K.01714), most summarized in the denovo-db (http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=NBEA).

As also commented in the article, a patient with autism and a de novo balanced translocation disrupting NBEA has been reported (PMID: 12746398) as has also been the case with other deletions spanning NBEA (PMIDs: 12826745, 11450821, 3377648).

Previous studies have suggested a role for NBEA in regulation of synaptic structure and function (PMID: 23277425,22109531) as well as a role of neurobeachin in autism-like behaviors in mice (PMID: 23153818).

NBEA is intolerant to loss-of-function mutations (pLI=1 in ExAC). Most variants in the study predict loss-of-function. As a result happloinsufficiency seems to be the underlying mechanism.

As the authors propose, loss-of-function variants might be associated with more specific (eg. microcephaly or myoclonic-atonic seizures) or severe phenotypic presentations, although the size of the cohort did not not allow safe conclusions. //

NBEA is included in DD/ID (but not epilepsy) gene panels offered by different diagnostic labs. //

As a result this gene can be considered for inclusion as green in the intellectual disability and epilepsy panels.
Sources: Expert Review, Literature
Early onset or syndromic epilepsy v0.503 TRAF7 Konstantinos Varvagiannis gene: TRAF7 was added
gene: TRAF7 was added to Genetic Epilepsy Syndromes. Sources: Literature,Expert Review
Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRAF7 were set to 29961569; 27479843; 28135719; 25363760; 25961944
Phenotypes for gene: TRAF7 were set to Global developmental delay; Abnormal heart morphology; Abnormality of digit; Abnormality of limbs
Penetrance for gene: TRAF7 were set to unknown
Review for gene: TRAF7 was set to AMBER
Added comment: PMID: 29961569 reports on 7 unrelated individuals with pathogenic variants in TRAF7. Common features included developmental delay, congenital heart defects, limb and digital anomalies as well as shared facial features (including epicanthal folds, ptosis, abnormal ears, excess nuchal skin). Some of these individuals had been investigated in the past for disorders of the Ras-MAPK pathway (CFC, Noonan and Costello syndrome).

Two (or possibly three) of these patients had seizures.

The SNVs reported are missense and occured de novo in all patients for whom parental studies were possible (6 out of 7). A recurrent mutation [p.(Arg655Gln)] was found in 4 of the 7 individuals. One patient was found to harbor a mutation in the mosaic state, as a de novo occurrence.

The variants resulted in reduced activation of ERK1/2 (also known as MAPK3/MAPK1). //

7 individuals with de novo coding variants have previously been reported in large cohorts of patients with intellectual disability (PMIDs : 27479843, 28135719 - DDD study) and/or ASD (25363760, 25961944). One of the individuals from the DDD study had a stopgain variant.

The individuals from these studies are summarized in the denovo-db (http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=TRAF7). //

As a result this gene can be considered for inclusion in the epilepsy panel as amber (seizures having been reported in few of the patients).
Sources: Literature, Expert Review
Early onset or syndromic epilepsy v0.503 PIGG Konstantinos Varvagiannis gene: PIGG was added
gene: PIGG was added to Genetic Epilepsy Syndromes. Sources: Literature,Expert Review
Mode of inheritance for gene: PIGG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGG were set to 26996948; 28581210
Phenotypes for gene: PIGG were set to # 616917. MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53
Penetrance for gene: PIGG were set to Complete
Review for gene: PIGG was set to GREEN
Added comment: PMID: 26996948 reports on 5 individuals from 3 families, with biallelic pathogenic variants in PIGG.

Individuals from first family, were born to consanguineous parents from Egypt and were homozygous for a stopgain variant [p.(Gln310*)]. The patient from the second family had a rare missense SNV [p.(Arg669Cys)] and a de novo microdeletion affecting PIGG on her other allele. In the third family (consanguineous parents from Pakistan), two affected sibs were found to be homozygous for a splice variant.

The phenotype consisted of hypotonia, early-onset seizures and intellectual disability. Ataxia was an additional feature in one of the families.

Seizures, were observed in most of patients but do not appear to be a universal feature as they were absent in one of the sibs from the third family (10 years of age), while the other had a single episode by the age of 12 years.

In vitro testing of lymphoblastoid cell lines (generated from individuals from the 1st and 3rd family) indicated that the variants abolished completely the function of PIGG, whereas the surface level of GPI anchored proteins was normal. //

PMID: 28581210 describes the phenotype of 2 sibs from Palestine, homozygous for a stopgain variant [p.(Trp547*)]. Hypotonia, feeding difficulties, severe non-progressive ataxia (with cerebellar hypoplasia), intellectual disability and seizures were common features. Differences in severity and/or additional features might be explained by other homozygous variants (the girl had a concurrent diagnosis of MCAD deficiency).

The authors demonstrated that the PIGG transcript levels were significantly lower (approximately half) in the two siblings compared to their parents, while the transcripts with the mutation in the heterozygous parents were very low due to nonsense-mediated decay.

Patient fibroblasts showed decreased surface level of GPI-anchored proteins, in contrast with what was noted in lymphoblastoid cells in the previous study. //

As a result this gene can be considered for inclusion in this panel as green (or amber).
Sources: Literature, Expert Review
Early onset or syndromic epilepsy v0.503 KCNK4 Konstantinos Varvagiannis gene: KCNK4 was added
gene: KCNK4 was added to Genetic Epilepsy Syndromes. Sources: Expert Review,Literature
Mode of inheritance for gene: KCNK4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNK4 were set to 30290154
Phenotypes for gene: KCNK4 were set to Neurodevelopmental delay; Intellectual disability; Seizures; Gingival overgrowth; Hypertrichosis
Penetrance for gene: KCNK4 were set to unknown
Mode of pathogenicity for gene: KCNK4 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: KCNK4 was set to AMBER
Added comment: PMID: 30290154 reports on 3 unrelated individuals with de novo missense KCNK4 variants. All three individuals presented with developmental delay and epilepsy. Severe intellectual disability was a feature in two of these individuals while the third displayed low average intellectual functioning (IQ of 85). Other features common in all included facial dysmorphism (bushy eyebrows, long eyelashes, thin everted upper lip, micrognathia), generalized hypertrichosis and gingival overgrowth.

The two missense variants reported [(p.Ala172Glu) and (p.Ala244Pro)] occurred as de novo events in all subjects, while the first SNV was observed in 2 (of the 3) patients with severe intellectual disability.

Functional studies were suggestive of a gain-of-function effect. In line with this mechanism, Kcnk4 knockout mice did not seem to exhibit seizures, deficits in cognition or other neurodevelopmental phenotypes in a study conducted earlier and cited by the authors (PMID: 15175651).

As a result this gene can be considered for inclusion in the panel as amber (or green).
Sources: Expert Review, Literature
Early onset or syndromic epilepsy v0.503 RNASEH2B Louise Daugherty Added comment: Comment on phenotypes: Added Phenotypes suggested by external expert reviwer
Early onset or syndromic epilepsy v0.503 RNASEH2B Louise Daugherty Phenotypes for gene: RNASEH2B were changed from to Aicardi-Goutieres syndrome 2, MIM#610181
Early onset or syndromic epilepsy v0.503 KCNMA1 Louise Daugherty Added comment: Comment on publications: added new publication
Early onset or syndromic epilepsy v0.503 KCNMA1 Louise Daugherty Publications for gene: KCNMA1 were set to 15937479; 26195193; 27567911
Early onset or syndromic epilepsy v0.502 KIF1BP Rebecca Foulger Publications for gene: KIF1BP were set to 15883926; 28277559
Early onset or syndromic epilepsy v0.502 KIF1BP Sarah Leigh Publications for gene: KIF1BP were set to 15883926; 28277559
Early onset or syndromic epilepsy v0.502 KIF1BP Sarah Leigh Source Victorian Clinical Genetics Services was removed from KIF1BP.
Phenotypes for gene: KIF1BP were changed from Goldberg-Shprintzen megacolon syndrome to Goldberg-Shprintzen megacolon syndrome 609460
Publications for gene KIF1BP were changed from Brooks et al (2005) Am J Hum Genet 77: 120_126 to 15883926; 28277559
Early onset or syndromic epilepsy v0.502 KIF1BP Sarah Leigh Publications for gene: KIF1BP were set to Brooks et al (2005) Am J Hum Genet 77: 120_126
Early onset or syndromic epilepsy v0.502 KIF1BP Sarah Leigh Added comment: Comment on publications: 15883926;28277559
Early onset or syndromic epilepsy v0.502 KIF1BP Sarah Leigh Publications for gene: KIF1BP were set to Brooks et al (2005) Am J Hum Genet 77: 120_126
Early onset or syndromic epilepsy v0.502 KIF1BP Sarah Leigh Publications for gene: KIF1BP were set to Brooks et al (2005) Am J Hum Genet 77: 120_126
Early onset or syndromic epilepsy v0.501 NARS2 Louise Daugherty Added comment: Comment on mode of inheritance: added MOI from review
Early onset or syndromic epilepsy v0.501 NARS2 Louise Daugherty Mode of inheritance for gene: NARS2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.501 HLCS Louise Daugherty Classified gene: HLCS as Green List (high evidence)
Early onset or syndromic epilepsy v0.501 HLCS Louise Daugherty Added comment: Comment on list classification: changed rating from Red to Green as suggested by external reviewer. . Publications support gene-disease association and rating of this gene to Green.
Early onset or syndromic epilepsy v0.501 HLCS Louise Daugherty Gene: hlcs has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.501 NARS2 Louise Daugherty Added comment: Comment on mode of inheritance: changed MOI from external reviewer comment
Early onset or syndromic epilepsy v0.501 NARS2 Louise Daugherty Mode of inheritance for gene: NARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.500 NHLRC1 Sarah Leigh Source NIHRBR-RD Consortium SPEED_v3.0_20170404 was removed from NHLRC1.
Source Expert was removed from NHLRC1.
Source Victorian Clinical Genetics Services was removed from NHLRC1.
Source Emory Genetics Laboratory was added to NHLRC1.
Mode of inheritance for gene NHLRC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.500 NHLRC1 Sarah Leigh Source NIHRBR-RD Consortium SPEED_v3.0_20170404 was removed from NHLRC1.
Source Expert was removed from NHLRC1.
Source Victorian Clinical Genetics Services was removed from NHLRC1.
Source Emory Genetics Laboratory was added to NHLRC1.
Mode of inheritance for gene NHLRC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.499 CSTB Sarah Leigh reviewed gene: CSTB: Rating: GREEN; Mode of pathogenicity: None; Publications: 28378817, 21757863, 15329070, 9012407; Phenotypes: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.499 CSTB Sarah Leigh Tag nucleotide-repeat-expansion tag was added to gene: CSTB.
Early onset or syndromic epilepsy v0.499 CCND2 Sarah Leigh Marked gene: CCND2 as ready
Early onset or syndromic epilepsy v0.499 CCND2 Sarah Leigh Added comment: Comment when marking as ready: Phenotype does not include seizures and to this gene is not relevant to the Genetic epilepsy syndromes panel.
Early onset or syndromic epilepsy v0.499 CCND2 Sarah Leigh Gene: ccnd2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.499 TUBA3E Sarah Leigh Marked gene: TUBA3E as ready
Early onset or syndromic epilepsy v0.499 TUBA3E Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. Identified as a candidate gene in PMID 25558065
Early onset or syndromic epilepsy v0.499 TUBA3E Sarah Leigh Gene: tuba3e has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.499 SRPX2 Sarah Leigh Marked gene: SRPX2 as ready
Early onset or syndromic epilepsy v0.499 SRPX2 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene.
Early onset or syndromic epilepsy v0.499 SRPX2 Sarah Leigh Gene: srpx2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.499 SRPX2 Sarah Leigh Classified gene: SRPX2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.499 SRPX2 Sarah Leigh Gene: srpx2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.498 SRPX2 Sarah Leigh Publications for gene: SRPX2 were set to 24179158; 18718938; 29663392; 24995671
Early onset or syndromic epilepsy v0.497 AKT1 Sarah Leigh Phenotypes for gene: AKT1 were changed from to Proteus syndrome, somatic 176920
Early onset or syndromic epilepsy v0.496 AKT1 Sarah Leigh Publications for gene: AKT1 were set to 23992099; 21793738
Early onset or syndromic epilepsy v0.495 AKT1 Sarah Leigh Mode of pathogenicity for gene: AKT1 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Early onset or syndromic epilepsy v0.494 AKT1 Sarah Leigh Added comment: Comment on mode of inheritance: Somatic mosaicism
Early onset or syndromic epilepsy v0.494 AKT1 Sarah Leigh Mode of inheritance for gene: AKT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.493 AKT1 Sarah Leigh Classified gene: AKT1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.493 AKT1 Sarah Leigh Gene: akt1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.492 SNIP1 Sarah Leigh Marked gene: SNIP1 as ready
Early onset or syndromic epilepsy v0.492 SNIP1 Sarah Leigh Gene: snip1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.492 SNIP1 Sarah Leigh Classified gene: SNIP1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.492 SNIP1 Sarah Leigh Gene: snip1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.491 SEC24D Sarah Leigh Marked gene: SEC24D as ready
Early onset or syndromic epilepsy v0.491 SEC24D Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. Identified as a candidate gene in PMID 25558065
Early onset or syndromic epilepsy v0.491 SEC24D Sarah Leigh Gene: sec24d has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.491 PSMB8 Sarah Leigh Marked gene: PSMB8 as ready
Early onset or syndromic epilepsy v0.491 PSMB8 Sarah Leigh Gene: psmb8 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.491 PIGH Sarah Leigh Marked gene: PIGH as ready
Early onset or syndromic epilepsy v0.491 PIGH Sarah Leigh Gene: pigh has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.491 PIGH Sarah Leigh Classified gene: PIGH as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.491 PIGH Sarah Leigh Gene: pigh has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.490 PIGH Sarah Leigh Classified gene: PIGH as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.490 PIGH Sarah Leigh Gene: pigh has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.489 PIGH Sarah Leigh Tag watchlist tag was added to gene: PIGH.
Early onset or syndromic epilepsy v0.489 PIGH Sarah Leigh Added comment: Comment on phenotypes: PMID: 29573052 mentions the following phenotype: hypotonia, moderate developmental delay, and autism, two episodes of febrile seizures
Early onset or syndromic epilepsy v0.489 PIGH Sarah Leigh Phenotypes for gene: PIGH were changed from Hypotonia, moderate developmental delay, and autism, two episodes of febrile seizures to Glycosylphosphatidylinositol biosynthesis defect 17 618010
Early onset or syndromic epilepsy v0.488 PIGH Sarah Leigh Publications for gene: PIGH were set to 29603516; 29573052; 29603510
Early onset or syndromic epilepsy v0.487 PIGH Sarah Leigh Publications for gene: PIGH were set to 29603516
Early onset or syndromic epilepsy v0.486 PCDHB4 Sarah Leigh Marked gene: PCDHB4 as ready
Early onset or syndromic epilepsy v0.486 PCDHB4 Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. Identified as a candidate gene in PMID 25558065
Early onset or syndromic epilepsy v0.486 PCDHB4 Sarah Leigh Gene: pcdhb4 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.486 NID1 Sarah Leigh Marked gene: NID1 as ready
Early onset or syndromic epilepsy v0.486 NID1 Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. Identified as a candidate gene in PMID 25558065
Early onset or syndromic epilepsy v0.486 NID1 Sarah Leigh Gene: nid1 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.486 MAGI2 Sarah Leigh Marked gene: MAGI2 as ready
Early onset or syndromic epilepsy v0.486 MAGI2 Sarah Leigh Gene: magi2 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.486 MAGI2 Sarah Leigh Added comment: Comment on phenotypes: Biallelic frame shifting truncating variants associated with Nephrotic syndrome, type 15 617609
Early onset or syndromic epilepsy v0.486 MAGI2 Sarah Leigh Phenotypes for gene: MAGI2 were changed from Infantile Spasms to Infantile Spasms
Early onset or syndromic epilepsy v0.485 MAGI2 Sarah Leigh Tag cnv tag was added to gene: MAGI2.
Early onset or syndromic epilepsy v0.485 MATN4 Sarah Leigh Marked gene: MATN4 as ready
Early onset or syndromic epilepsy v0.485 MATN4 Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. Identified as a candidate gene in PMID 25558065
Early onset or syndromic epilepsy v0.485 MATN4 Sarah Leigh Gene: matn4 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.485 INO80 Sarah Leigh Marked gene: INO80 as ready
Early onset or syndromic epilepsy v0.485 INO80 Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen identified as a candidate gene in PMID 25558065
Early onset or syndromic epilepsy v0.485 INO80 Sarah Leigh Gene: ino80 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.485 GAL Sarah Leigh Marked gene: GAL as ready
Early onset or syndromic epilepsy v0.485 GAL Sarah Leigh Gene: gal has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.485 GABRD Sarah Leigh Marked gene: GABRD as ready
Early onset or syndromic epilepsy v0.485 GABRD Sarah Leigh Gene: gabrd has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.485 EFTUD2 Sarah Leigh Marked gene: EFTUD2 as ready
Early onset or syndromic epilepsy v0.485 EFTUD2 Sarah Leigh Gene: eftud2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.485 EFTUD2 Sarah Leigh Classified gene: EFTUD2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.485 EFTUD2 Sarah Leigh Gene: eftud2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.484 EFTUD2 Sarah Leigh Classified gene: EFTUD2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.484 EFTUD2 Sarah Leigh Gene: eftud2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.483 DMBX1 Sarah Leigh Marked gene: DMBX1 as ready
Early onset or syndromic epilepsy v0.483 DMBX1 Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen, candidate gene in pmid 25558065
Early onset or syndromic epilepsy v0.483 DMBX1 Sarah Leigh Gene: dmbx1 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.483 CSNK1G1 Sarah Leigh Publications for gene: CSNK1G1 were set to 24463883
Early onset or syndromic epilepsy v0.482 CSNK1G1 Sarah Leigh Marked gene: CSNK1G1 as ready
Early onset or syndromic epilepsy v0.482 CSNK1G1 Sarah Leigh Gene: csnk1g1 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.482 CSNK1G1 Sarah Leigh Publications for gene: CSNK1G1 were set to Martin et al (2014) Hum Mol Genet 23(12).3200-3211
Early onset or syndromic epilepsy v0.481 POMT2 Sarah Leigh Marked gene: POMT2 as ready
Early onset or syndromic epilepsy v0.481 POMT2 Sarah Leigh Gene: pomt2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.481 POMT2 Sarah Leigh Phenotypes for gene: POMT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150
Early onset or syndromic epilepsy v0.480 POMT2 Sarah Leigh Added comment: Comment on phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150
Early onset or syndromic epilepsy v0.480 POMT2 Sarah Leigh Phenotypes for gene: POMT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150
Early onset or syndromic epilepsy v0.479 AKT1 Sarah Leigh Added comment: Comment on mode of pathogenicity: somatic mosaic activating variants
Early onset or syndromic epilepsy v0.479 AKT1 Sarah Leigh Mode of pathogenicity for gene: AKT1 was changed from None to None
Early onset or syndromic epilepsy v0.478 AKT1 Sarah Leigh Publications for gene: AKT1 were set to 23992099
Early onset or syndromic epilepsy v0.477 CCDC88C Sarah Leigh Marked gene: CCDC88C as ready
Early onset or syndromic epilepsy v0.477 CCDC88C Sarah Leigh Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.477 CCDC88C Sarah Leigh Tag watchlist tag was added to gene: CCDC88C.
Early onset or syndromic epilepsy v0.477 CCDC88C Sarah Leigh Classified gene: CCDC88C as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.477 CCDC88C Sarah Leigh Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.476 CLCN2 Sarah Leigh Marked gene: CLCN2 as ready
Early onset or syndromic epilepsy v0.476 CLCN2 Sarah Leigh Gene: clcn2 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.476 UBA5 Sarah Leigh Classified gene: UBA5 as Green List (high evidence)
Early onset or syndromic epilepsy v0.476 UBA5 Sarah Leigh Gene: uba5 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.475 TUBB4A Sarah Leigh Marked gene: TUBB4A as ready
Early onset or syndromic epilepsy v0.475 TUBB4A Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 6 variants reported in numerous cases.
Early onset or syndromic epilepsy v0.475 TUBB4A Sarah Leigh Gene: tubb4a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.475 TUBB4A Sarah Leigh Classified gene: TUBB4A as Green List (high evidence)
Early onset or syndromic epilepsy v0.475 TUBB4A Sarah Leigh Gene: tubb4a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.474 TSEN15 Sarah Leigh Marked gene: TSEN15 as ready
Early onset or syndromic epilepsy v0.474 TSEN15 Sarah Leigh Gene: tsen15 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.474 TSC1 Sarah Leigh Marked gene: TSC1 as ready
Early onset or syndromic epilepsy v0.474 TSC1 Sarah Leigh Gene: tsc1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.474 SLC35A1 Sarah Leigh Marked gene: SLC35A1 as ready
Early onset or syndromic epilepsy v0.474 SLC35A1 Sarah Leigh Gene: slc35a1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.474 SLC35A1 Sarah Leigh Tag watchlist tag was added to gene: SLC35A1.
Early onset or syndromic epilepsy v0.474 RTTN Sarah Leigh Marked gene: RTTN as ready
Early onset or syndromic epilepsy v0.474 RTTN Sarah Leigh Added comment: Comment when marking as ready: Green rating based on previous evidence and report of an additional case displaying seizures in PMID 29967526.
Early onset or syndromic epilepsy v0.474 RTTN Sarah Leigh Gene: rttn has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.474 RTTN Sarah Leigh Publications for gene: RTTN were set to 26608784
Early onset or syndromic epilepsy v0.473 KCNMA1 Sarah Leigh Marked gene: KCNMA1 as ready
Early onset or syndromic epilepsy v0.473 KCNMA1 Sarah Leigh Gene: kcnma1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.473 RTTN Sarah Leigh Classified gene: RTTN as Green List (high evidence)
Early onset or syndromic epilepsy v0.473 RTTN Sarah Leigh Gene: rttn has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.472 POMT2 Sarah Leigh Mode of inheritance for gene: POMT2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.471 POMT2 Sarah Leigh Marked gene: POMT2 as ready
Early onset or syndromic epilepsy v0.471 POMT2 Sarah Leigh Gene: pomt2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.471 PEX5 Sarah Leigh Marked gene: PEX5 as ready
Early onset or syndromic epilepsy v0.471 PEX5 Sarah Leigh Gene: pex5 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.471 PEX5 Sarah Leigh Tag watchlist tag was added to gene: PEX5.
Early onset or syndromic epilepsy v0.471 MED17 Sarah Leigh Marked gene: MED17 as ready
Early onset or syndromic epilepsy v0.471 MED17 Sarah Leigh Gene: med17 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.471 KPTN Sarah Leigh Marked gene: KPTN as ready
Early onset or syndromic epilepsy v0.471 KPTN Sarah Leigh Gene: kptn has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.471 HAX1 Sarah Leigh Classified gene: HAX1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.471 HAX1 Sarah Leigh Gene: hax1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.470 HAX1 Sarah Leigh Marked gene: HAX1 as ready
Early onset or syndromic epilepsy v0.470 HAX1 Sarah Leigh Gene: hax1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.470 CACNA1H Sarah Leigh Marked gene: CACNA1H as ready
Early onset or syndromic epilepsy v0.470 CACNA1H Sarah Leigh Gene: cacna1h has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.470 ATP6AP2 Sarah Leigh Marked gene: ATP6AP2 as ready
Early onset or syndromic epilepsy v0.470 ATP6AP2 Sarah Leigh Gene: atp6ap2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.470 ATP6AP2 Sarah Leigh Tag watchlist tag was added to gene: ATP6AP2.
Early onset or syndromic epilepsy v0.470 FTL Sarah Leigh Marked gene: FTL as ready
Early onset or syndromic epilepsy v0.470 FTL Sarah Leigh Gene: ftl has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.470 CBL Sarah Leigh Marked gene: CBL as ready
Early onset or syndromic epilepsy v0.470 CBL Sarah Leigh Gene: cbl has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.470 ALG2 Sarah Leigh Marked gene: ALG2 as ready
Early onset or syndromic epilepsy v0.470 ALG2 Sarah Leigh Gene: alg2 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.470 ST3GAL3 Sarah Leigh Marked gene: ST3GAL3 as ready
Early onset or syndromic epilepsy v0.470 ST3GAL3 Sarah Leigh Gene: st3gal3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.470 TFE3 Sarah Leigh Marked gene: TFE3 as ready
Early onset or syndromic epilepsy v0.470 TFE3 Sarah Leigh Gene: tfe3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.470 ATP1A2 Sarah Leigh Marked gene: ATP1A2 as ready
Early onset or syndromic epilepsy v0.470 ATP1A2 Sarah Leigh Gene: atp1a2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.470 ARG1 Sarah Leigh Marked gene: ARG1 as ready
Early onset or syndromic epilepsy v0.470 ARG1 Sarah Leigh Gene: arg1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.470 ARG1 Sarah Leigh Classified gene: ARG1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.470 ARG1 Sarah Leigh Gene: arg1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.469 ARG1 Sarah Leigh gene: ARG1 was added
gene: ARG1 was added to Genetic Epilepsy Syndromes. Sources: Literature
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARG1 were set to 26310552; 1463019
Phenotypes for gene: ARG1 were set to Argininemia 207800
Review for gene: ARG1 was set to GREEN
Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Seizures reported in at least three unrelated cases carrying different variants.
Sources: Literature
Early onset or syndromic epilepsy v0.468 CC2D2A Sarah Leigh Marked gene: CC2D2A as ready
Early onset or syndromic epilepsy v0.468 CC2D2A Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene for all of the associated phenotypes. At least 8 variants reported in unrelated cases of Joubert syndrome 9 612285 and one case of COACH syndrome 216360 displaying seizures as part of the overall phenotype.
Early onset or syndromic epilepsy v0.468 CC2D2A Sarah Leigh Gene: cc2d2a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.468 CC2D2A Sarah Leigh Classified gene: CC2D2A as Green List (high evidence)
Early onset or syndromic epilepsy v0.468 CC2D2A Sarah Leigh Gene: cc2d2a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.467 CC2D2A Sarah Leigh Publications for gene: CC2D2A were set to 22241855; 19574260
Early onset or syndromic epilepsy v0.466 CC2D2A Sarah Leigh Publications for gene: CC2D2A were set to 22241855; 19574260
Early onset or syndromic epilepsy v0.465 CC2D2A Sarah Leigh Publications for gene: CC2D2A were set to
Early onset or syndromic epilepsy v0.464 CC2D2A Sarah Leigh Added comment: Comment on phenotypes: Variants also reported in Meckel syndrome 6 612284
Early onset or syndromic epilepsy v0.464 CC2D2A Sarah Leigh Phenotypes for gene: CC2D2A were changed from to COACH syndrome 216360; Joubert syndrome 9 612285
Early onset or syndromic epilepsy v0.463 CC2D2A Sarah Leigh Mode of inheritance for gene: CC2D2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.462 SLC1A4 Sarah Leigh Marked gene: SLC1A4 as ready
Early onset or syndromic epilepsy v0.462 SLC1A4 Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. Single variant originally only recorded in cases with Ashkenazi Jewish heritage, this variant and at least two others have now been reported in additional unrelated cases from other populations.
Early onset or syndromic epilepsy v0.462 SLC1A4 Sarah Leigh Gene: slc1a4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.462 SLC1A4 Sarah Leigh Classified gene: SLC1A4 as Green List (high evidence)
Early onset or syndromic epilepsy v0.462 SLC1A4 Sarah Leigh Gene: slc1a4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.461 SLC1A4 Sarah Leigh Phenotypes for gene: SLC1A4 were changed from Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657 to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657
Early onset or syndromic epilepsy v0.460 RORA Sarah Leigh Marked gene: RORA as ready
Early onset or syndromic epilepsy v0.460 RORA Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 5 variants reported in unrelated cases.
Early onset or syndromic epilepsy v0.460 RORA Sarah Leigh Gene: rora has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.460 RORA Sarah Leigh Classified gene: RORA as Green List (high evidence)
Early onset or syndromic epilepsy v0.460 RORA Sarah Leigh Gene: rora has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.459 PACS1 Sarah Leigh Marked gene: PACS1 as ready
Early onset or syndromic epilepsy v0.459 PACS1 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 19 reports of a single de novo variant recorded.
Early onset or syndromic epilepsy v0.459 PACS1 Sarah Leigh Gene: pacs1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.459 PACS1 Sarah Leigh Publications for gene: PACS1 were set to 28111752; 26842493; 23159249
Early onset or syndromic epilepsy v0.458 PACS1 Sarah Leigh Publications for gene: PACS1 were set to 28111752; 26842493
Early onset or syndromic epilepsy v0.457 PACS1 Sarah Leigh Classified gene: PACS1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.457 PACS1 Sarah Leigh Gene: pacs1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.456 LNPK Sarah Leigh Marked gene: LNPK as ready
Early onset or syndromic epilepsy v0.456 LNPK Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 2 homozygous variants identified in 2 unrelated cases.
Early onset or syndromic epilepsy v0.456 LNPK Sarah Leigh Gene: lnpk has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.456 LNPK Sarah Leigh Classified gene: LNPK as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.456 LNPK Sarah Leigh Gene: lnpk has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.455 LNPK Sarah Leigh Tag watchlist tag was added to gene: LNPK.
Early onset or syndromic epilepsy v0.455 LNPK Sarah Leigh Phenotypes for gene: LNPK were changed from Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures; Hypoplasia of the corpus callosum; Abnormality of the cerebellum to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 618090
Early onset or syndromic epilepsy v0.454 IRF2BPL Sarah Leigh Phenotypes for gene: IRF2BPL were changed from Global developmental delay; Developmental regression; Seizures; Ataxia to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 618088
Early onset or syndromic epilepsy v0.453 IRF2BPL Sarah Leigh Marked gene: IRF2BPL as ready
Early onset or syndromic epilepsy v0.453 IRF2BPL Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. More than 10 truncating variants identified in unrelated cases.
Early onset or syndromic epilepsy v0.453 IRF2BPL Sarah Leigh Gene: irf2bpl has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.453 IRF2BPL Sarah Leigh Classified gene: IRF2BPL as Green List (high evidence)
Early onset or syndromic epilepsy v0.453 IRF2BPL Sarah Leigh Gene: irf2bpl has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.452 GTPBP2 Sarah Leigh Marked gene: GTPBP2 as ready
Early onset or syndromic epilepsy v0.452 GTPBP2 Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants homozygous variants identified in 4 unrelated cases whose phenotype included seizures.
Early onset or syndromic epilepsy v0.452 GTPBP2 Sarah Leigh Gene: gtpbp2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.452 GTPBP2 Sarah Leigh Phenotypes for gene: GTPBP2 were changed from Global developmental delay; Intellectual disability; Seizures to Jaberi-Elahi syndrome 617988
Early onset or syndromic epilepsy v0.451 GTPBP2 Sarah Leigh Classified gene: GTPBP2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.451 GTPBP2 Sarah Leigh Gene: gtpbp2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.450 GRIA4 Sarah Leigh Marked gene: GRIA4 as ready
Early onset or syndromic epilepsy v0.450 GRIA4 Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. Seizures reported in 3/5 unrelated probands carrying monoallelic variants in GRIA4 (PMID 29220673). Mouse model carrying a GRIA4 variant display absence epilepsy (PMID 18316356).
Early onset or syndromic epilepsy v0.450 GRIA4 Sarah Leigh Gene: gria4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.450 GRIA4 Sarah Leigh Publications for gene: GRIA4 were set to 29220673; 25010494
Early onset or syndromic epilepsy v0.449 GRIA4 Sarah Leigh Publications for gene: GRIA4 were set to 29220673
Early onset or syndromic epilepsy v0.448 GRIA4 Sarah Leigh Classified gene: GRIA4 as Green List (high evidence)
Early onset or syndromic epilepsy v0.448 GRIA4 Sarah Leigh Gene: gria4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.447 GRIA4 Sarah Leigh Phenotypes for gene: GRIA4 were changed from Neurodevelopmental disorder with or without seizures and gait abnormalities, MIM#617864 to Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864
Early onset or syndromic epilepsy v0.446 GRIA4 Sarah Leigh Mode of inheritance for gene: GRIA4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.445 FBXO11 Sarah Leigh Marked gene: FBXO11 as ready
Early onset or syndromic epilepsy v0.445 FBXO11 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene for FBXO11 related intellectual disability. Seizures reported in at least 5 unrelated cases carrying de novo monoallelic FBXO11 variants (PMID: 30057029).
Early onset or syndromic epilepsy v0.445 FBXO11 Sarah Leigh Gene: fbxo11 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.445 FBXO11 Sarah Leigh Classified gene: FBXO11 as Green List (high evidence)
Early onset or syndromic epilepsy v0.445 FBXO11 Sarah Leigh Gene: fbxo11 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.444 FBXO11 Sarah Leigh Publications for gene: FBXO11 were set to 30057029
Early onset or syndromic epilepsy v0.443 FBXO11 Sarah Leigh Added comment: Comment on phenotypes: Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures
Early onset or syndromic epilepsy v0.443 FBXO11 Sarah Leigh Phenotypes for gene: FBXO11 were changed from Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures to Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 618089
Early onset or syndromic epilepsy v0.442 CUX2 Sarah Leigh Marked gene: CUX2 as ready
Early onset or syndromic epilepsy v0.442 CUX2 Sarah Leigh Added comment: Comment when marking as ready: No associated with a phenotype in OMIM, but as a probable Gen2Phen gene for developmental epileptic encephalopathy. A single variant has been reported in at least 9 cases, however, at present it is unclear about whether or not the cases are related (the authors of PMID 29630738 have been contacted).
Early onset or syndromic epilepsy v0.442 CUX2 Sarah Leigh Gene: cux2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.442 CUX2 Sarah Leigh Classified gene: CUX2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.442 CUX2 Sarah Leigh Gene: cux2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.441 CUX2 Sarah Leigh Phenotypes for gene: CUX2 were changed from Seizures; Intellectual disability; Autistic behavior to Seizures; Intellectual disability; Autistic behavior; Developmental epileptic encephalopathy
Early onset or syndromic epilepsy v0.440 CUX2 Sarah Leigh Classified gene: CUX2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.440 CUX2 Sarah Leigh Gene: cux2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.439 ADPRHL2 Sarah Leigh Marked gene: ADPRHL2 as ready
Early onset or syndromic epilepsy v0.439 ADPRHL2 Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. Recent publication reports 6 different variants in affected members of 6 apparently unrelated families. Generalized tonic-clonic seizures were reported in 3/6 families, the seizures were were in response to other illness in one of these families.
Early onset or syndromic epilepsy v0.439 ADPRHL2 Sarah Leigh Gene: adprhl2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.439 ADPRHL2 Sarah Leigh Publications for gene: ADPRHL2 were set to DOI:https://doi.org/10.1016/j.ajhg.2018.07.010
Early onset or syndromic epilepsy v0.438 ADPRHL2 Sarah Leigh Classified gene: ADPRHL2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.438 ADPRHL2 Sarah Leigh Gene: adprhl2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.437 TUBB2A Rebecca Foulger Marked gene: TUBB2A as ready
Early onset or syndromic epilepsy v0.437 TUBB2A Rebecca Foulger Added comment: Comment when marking as ready: Seizures are a reported phenotype of MIM:615763, with sufficient cases of seizures for inclusion on panel.
Early onset or syndromic epilepsy v0.437 TUBB2A Rebecca Foulger Gene: tubb2a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.437 TUBA1A Rebecca Foulger Marked gene: TUBA1A as ready
Early onset or syndromic epilepsy v0.437 TUBA1A Rebecca Foulger Added comment: Comment when marking as ready: Associated with relevant seizure phenotypes in OMIM, with sufficient (>3) unrelated cases reporting seizures.
Early onset or syndromic epilepsy v0.437 TUBA1A Rebecca Foulger Gene: tuba1a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.437 TUBA1A Rebecca Foulger Classified gene: TUBA1A as Green List (high evidence)
Early onset or syndromic epilepsy v0.437 TUBA1A Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Confirmed DD-G2P gene for Lissencephaly 3 (611603) which includes seizures in some patients. Seizures are associated with at least three variants in unrelated cases (PMIDs:17218254, 17584854, 18954413, 21403111, 22948023).
Early onset or syndromic epilepsy v0.437 TUBA1A Rebecca Foulger Gene: tuba1a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.436 TUBA1A Rebecca Foulger Mode of inheritance for gene: TUBA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.435 TUBA1A Rebecca Foulger Publications for gene: TUBA1A were set to
Early onset or syndromic epilepsy v0.434 TUBA1A Rebecca Foulger Phenotypes for gene: TUBA1A were changed from to Lissencephaly 3, 611603
Early onset or syndromic epilepsy v0.433 TUBA8 Rebecca Foulger Publications for gene: TUBA8 were set to 19896110; 27781032
Early onset or syndromic epilepsy v0.432 TUBA8 Rebecca Foulger commented on gene: TUBA8: Fung et al (PMID:29588952, 2017) selected a cohort of 31 patients with ssiezure crytopgenic NIEE (Epileptic encephalopathy) and seizure onset before 24 months. A compound heterozygous variant of uncertain significance was found in TUBA8 in a patient with severe ID, developmental regression, hypotonia and seizures. Unlike in the 2009 paper (PMID:19896110), no malformation of cortical development was seen.
Early onset or syndromic epilepsy v0.432 TUBA8 Rebecca Foulger commented on gene: TUBA8: 4 patients with 'Cortical dysplasia, complex, with other brain malformations 8, MIM:613180' were reported by Abdollahi et al. (2009, PMID:19896110). The 4 children come from 2 unrelated consanguineous Pakistani families, and all 4 children presented with seizures (infantile spasms or Tonic clonic).
Early onset or syndromic epilepsy v0.432 TUBA8 Rebecca Foulger Publications for gene: TUBA8 were set to
Early onset or syndromic epilepsy v0.431 TUBA8 Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI supported by G2P, OMIM and literature (PMID:19896110).
Early onset or syndromic epilepsy v0.431 TUBA8 Rebecca Foulger Mode of inheritance for gene: TUBA8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.430 TUBA8 Rebecca Foulger Phenotypes for gene: TUBA8 were changed from to Cortical dysplasia, complex, with other brain malformations 8, 613180
Early onset or syndromic epilepsy v0.429 TUBB Rebecca Foulger Marked gene: TUBB as ready
Early onset or syndromic epilepsy v0.429 TUBB Rebecca Foulger Added comment: Comment when marking as ready: Amber rating appropriate based on current reported phenotypes. Require additional seizure evidence before rating as Green.
Early onset or syndromic epilepsy v0.429 TUBB Rebecca Foulger Gene: tubb has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.429 TUBB Rebecca Foulger Tag watchlist tag was added to gene: TUBB.
Early onset or syndromic epilepsy v0.429 TUBB Rebecca Foulger Mode of inheritance for gene: TUBB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.428 TUBB Rebecca Foulger Classified gene: TUBB as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.428 TUBB Rebecca Foulger Added comment: Comment on list classification: ALthough TUBB has a Green expert review, have kept rating as Amber on phenotypic grounds, following advice from Helen Brittain. Seizures are not listed in the clinical synopsis for this particular cortical malformation disorder (MIM:615771), and although variants in other tubulin genes are linked to seizures, according to PMID:25008804 (2015), mutations in the TUBB gene have been described in three unrelated cases, none showing epilepsy.
Early onset or syndromic epilepsy v0.428 TUBB Rebecca Foulger Gene: tubb has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.427 TUBB2A Rebecca Foulger Classified gene: TUBB2A as Green List (high evidence)
Early onset or syndromic epilepsy v0.427 TUBB2A Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following advice from Helen Brittain: 3 unrelated cases from literature. Although not all with the genotype may develop seizures, there are sufficient cases of the epilepsy phenotype for inclusion on the panel.
Early onset or syndromic epilepsy v0.427 TUBB2A Rebecca Foulger Gene: tubb2a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.426 TUBB Rebecca Foulger Phenotypes for gene: TUBB were changed from to Cortical dysplasia, complex, with other brain malformations 6, 615771
Early onset or syndromic epilepsy v0.425 TUBB2B Rebecca Foulger Marked gene: TUBB2B as ready
Early onset or syndromic epilepsy v0.425 TUBB2B Rebecca Foulger Added comment: Comment when marking as ready: Associated with relevant phenotypes in OMIM, and seizures associated with at least three variants in unrelated cases (PMIDs:19465910 and 22333901).
Early onset or syndromic epilepsy v0.425 TUBB2B Rebecca Foulger Gene: tubb2b has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.425 TUBB2B Rebecca Foulger Classified gene: TUBB2B as Green List (high evidence)
Early onset or syndromic epilepsy v0.425 TUBB2B Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: >3 patients with heterozygous TUBB2B variants exhibited seizures as part of brain malformation disorder.
Early onset or syndromic epilepsy v0.425 TUBB2B Rebecca Foulger Gene: tubb2b has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.424 TUBB2B Rebecca Foulger Publications for gene: TUBB2B were set to
Early onset or syndromic epilepsy v0.423 TUBB2B Rebecca Foulger commented on gene: TUBB2B
Early onset or syndromic epilepsy v0.423 TUBB2B Rebecca Foulger Mode of inheritance for gene: TUBB2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.422 TUBB2B Rebecca Foulger Phenotypes for gene: TUBB2B were changed from to Cortical dysplasia, complex, with other brain malformations 7, 610031
Early onset or syndromic epilepsy v0.421 TUBB2A Rebecca Foulger gene: TUBB2A was added
gene: TUBB2A was added to Genetic Epilepsy Syndromes. Sources: Literature
Mode of inheritance for gene: TUBB2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUBB2A were set to 24702957; 25326637
Phenotypes for gene: TUBB2A were set to Cortical dysplasia, complex, with other brain malformations 5, 615763; infantile-onset epilepsy
Added comment: TUBB2A added to panel based on PMID:24702957 (2014), which describes two unrelated individuals with infantile-onset epilepsy and abnormalities of brain morphology harbouring de novo variants in TUBB2A. A third patient is reported in the large-scale study PMID:25326637 (2014); an infant with DD, seizures, perisylvian polymicrogyria and micropcephaly with a de novo missense variant in TUBB2A.
Sources: Literature
Early onset or syndromic epilepsy v0.420 TUBB3 Rebecca Foulger Publications for gene: TUBB3 were set to 20829227; 26130693
Early onset or syndromic epilepsy v0.419 TUBB3 Rebecca Foulger Marked gene: TUBB3 as ready
Early onset or syndromic epilepsy v0.419 TUBB3 Rebecca Foulger Added comment: Comment when marking as ready: Associated with relevant phenotypes in OMIM, and seizures associated with at least three unrelated cases (see PMID:25008804).
Early onset or syndromic epilepsy v0.419 TUBB3 Rebecca Foulger Gene: tubb3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.419 TUBB3 Rebecca Foulger Classified gene: TUBB3 as Green List (high evidence)
Early onset or syndromic epilepsy v0.419 TUBB3 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: 1 Green expert review plus at least 3 patients with TUBB3 variants showing seizures.
Early onset or syndromic epilepsy v0.419 TUBB3 Rebecca Foulger Gene: tubb3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.418 TUBB3 Rebecca Foulger commented on gene: TUBB3
Early onset or syndromic epilepsy v0.418 TUBB3 Rebecca Foulger Publications for gene: TUBB3 were set to 20829227
Early onset or syndromic epilepsy v0.417 TUBB3 Rebecca Foulger Publications for gene: TUBB3 were set to
Early onset or syndromic epilepsy v0.416 TUBB3 Rebecca Foulger Mode of inheritance for gene: TUBB3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.415 TUBB3 Rebecca Foulger Phenotypes for gene: TUBB3 were changed from to Cortical dysplasia, complex, with other brain malformations 1, 614039
Early onset or syndromic epilepsy v0.414 ISCA-46290-Gain Louise Daugherty Region: ISCA-46290-Gain was added
Region: ISCA-46290-Gain was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-46290-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for Region: ISCA-46290-Gain were set to 25425167; 19716111; 21418194
Phenotypes for Region: ISCA-46290-Gain were set to Idiopathic mental retardation, speech delay, and a peculiar electroencephalographic (EEG) pattern in childhood. Autism and epilepsy, severe intellectual disability and dysmorphic facial features. Moderate to severe intellectual disability, early onset of puberty, language impairment, and age related epileptic syndromes such as West syndrome and focal epilepsy with activation during sleep evolving in some patients to continuous spikes-and-waves during slow sleep; 300801
Early onset or syndromic epilepsy v0.413 PACS2 Sarah Leigh Marked gene: PACS2 as ready
Early onset or syndromic epilepsy v0.413 PACS2 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. Single de novo variant reported in at least 14 unrelated cases variants (PMID 29656858), together with previous reports of haploinsufficiency encompassing the PACS2 gene (PMID 28867141).
Early onset or syndromic epilepsy v0.413 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.413 PACS2 Sarah Leigh Classified gene: PACS2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.413 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.412 PACS2 Sarah Leigh Publications for gene: PACS2 were set to 29656858; 22488736
Early onset or syndromic epilepsy v0.411 PACS2 Sarah Leigh Phenotypes for gene: PACS2 were changed from Global developmental delay; Intellectual disability; Seizures; Abnormality of the cerebrum to Epileptic encephalopathy, early infantile, 66, 618067
Early onset or syndromic epilepsy v0.410 ISCA-37404-Loss Louise Daugherty Region: ISCA-37404-Loss was added
Region: ISCA-37404-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; 105832; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome
Early onset or syndromic epilepsy v0.410 ISCA-37423-Gain Louise Daugherty Region: ISCA-37423-Gain was added
Region: ISCA-37423-Gain was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37423-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37423-Gain were set to 21933911; 23345203
Phenotypes for Region: ISCA-37423-Gain were set to Behavioral problems, cleft lip and/or palate, macrocephaly, and seizures were confirmed as additional features among the new patients, and novel features included neonatal respiratory distress, attention deficit hyperactivity disorder (ADHD), ocular anomalies, balance problems, hypotonia, and hydrocele.; mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly); congenital heart disease; 8p23.1 duplication syndrome
Early onset or syndromic epilepsy v0.410 ISCA-37430-Loss Louise Daugherty Region: ISCA-37430-Loss was added
Region: ISCA-37430-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37430-Loss were set to 19584063; 1671808; 1879837; 3391613; 12621583; 7634541
Phenotypes for Region: ISCA-37430-Loss were set to microcephaly, dysgenesis of the corpus callosum, and cerebellar atrophy, as well as neurobehavioral disorders, including delayed development, mental retardation, and attention deficit-hyperactivity disorder. Patients with duplications of YWHAE tended to have macrosomia, facial dysmorphism, and mild developmental delay; growth restriction, craniofacial dysmorphisms, structural abnormalities of brain and cognitive impairment; Chromosome 17p13.3 duplication syndrome; prominent forehead, bitemporal hollowing, short nose with upturned nares, protuberant upper lip, thin vermilion border, and small jaw; Characteristic facies, pre- and post-natal growth retardation; 247200; classic lissencephaly (pachygyria, incomplete or absent gyration of the cerebrum), microcephaly, wrinkled skin over the glabella and frontal suture, prominent occiput, narrow forehead, downward slanting palpebral fissures, small nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and mental deficiency with seizures and EEG abnormalities; Miller-Dieker lissencephaly syndrome
Early onset or syndromic epilepsy v0.410 ISCA-37432-Gain Louise Daugherty Region: ISCA-37432-Gain was added
Region: ISCA-37432-Gain was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37432-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37432-Gain were set to developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia; Speech and language delay; Seizures (not all); Chromosome 17q12 duplication syndrome; 614526; Behavioural difficulties
Early onset or syndromic epilepsy v0.410 ISCA-37434-Loss Louise Daugherty Region: ISCA-37434-Loss was added
Region: ISCA-37434-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37434-Loss were set to 17918734; 22766398; 18245432
Phenotypes for Region: ISCA-37434-Loss were set to posteriorly rotated, low-set, abnormal ears; brachycephaly; epicanthus; heart defects; pointed chin; deep-set eyes; microcephaly; hypotonia; seizures; poor/absent speech; central nervous system anomalies; large anterior fontanels; microbrachycephaly; mental retardation; growth impairment; large, late-closing anterior fontanel; flat nose; nasal bridge; developmental delay; hearing impairment; distinct dysmorphic features; 1p36 deletion syndrome; 607872
Early onset or syndromic epilepsy v0.410 ISCA-37411-Loss Louise Daugherty Region: ISCA-37411-Loss was added
Region: ISCA-37411-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37411-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37411-Loss were set to 19289393; 19136953; 18278044
Phenotypes for Region: ISCA-37411-Loss were set to PMID: 19289393 incomplete penetrance for developmental delay, mental retardation, or borderline IQ in most and autistic spectrum disorder (6/14), speech delay, aggressiveness, attention deficit hyperactivity disorder, and other behavioural problems; 612001; PMID: 18278044 mental retardation, epilepsy and variable facial and digital dysmorphisms; PMID: 19136953 idiopathic generalized epilepsy without other features previously associated with 15q13.3 microdeletions, such as intellectual disability, autism or schizophrenia
Early onset or syndromic epilepsy v0.410 ISCA-37415-Loss Louise Daugherty Region: ISCA-37415-Loss was added
Region: ISCA-37415-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37415-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37415-Loss were set to 19843651; 18550696; 24246141
Phenotypes for Region: ISCA-37415-Loss were set to PMID: 18550696 Phenotypic variability, common features were identified: mental retardation, microcephaly and epilepsy in three patients, two of these had also short stature, and two other deletion carriers ascertained prenatally presented with cleft lip and midline defects
Early onset or syndromic epilepsy v0.410 ISCA-37478-Gain Louise Daugherty Region: ISCA-37478-Gain was added
Region: ISCA-37478-Gain was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Gain were set to 18374305; 16840569; 9106540
Phenotypes for Region: ISCA-37478-Gain were set to hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636; chromosome 15q11-q13 duplication syndrome; autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems
Early onset or syndromic epilepsy v0.410 ISCA-37493-Loss Louise Daugherty Region: ISCA-37493-Loss was added
Region: ISCA-37493-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37493-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37493-Loss were set to 21800092; 17603806; 22678713
Phenotypes for Region: ISCA-37493-Loss were set to microcephaly; seizures; agenesis of the corpus callosum; intellectual disability; hand and foot anomalies; 612337; non-specific craniofacial anomalies; hypoplasia; psychomotor retardation; hypogenesis of the corpus callosum
Early onset or syndromic epilepsy v0.410 ISCA-46295-Loss Louise Daugherty Region: ISCA-46295-Loss was added
Region: ISCA-46295-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-46295-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-46295-Loss were set to 19898479; 20236110; 22775350
Phenotypes for Region: ISCA-46295-Loss were set to seizures; 20236110; mental retardation; 22775350; dysmorphic features; developmental delay; severe epileptic encephalopathy
Early onset or syndromic epilepsy v0.410 ISCA-37429-Loss Louise Daugherty Region: ISCA-37429-Loss was added
Region: ISCA-37429-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37429-Loss were set to 20026556; 14630905
Phenotypes for Region: ISCA-37429-Loss were set to 194190; Wolf-Hirschhorn syndrome
Early onset or syndromic epilepsy v0.410 ISCA-37478-Loss Louise Daugherty Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105830
Early onset or syndromic epilepsy TUBG1 Sarah Leigh marked gene: TUBG1 as ready
Early onset or syndromic epilepsy TUBG1 Sarah Leigh classified TUBG1 as Green List (high evidence)
Early onset or syndromic epilepsy TUBG1 Sarah Leigh classified TUBG1 as Green List (high evidence)
Early onset or syndromic epilepsy UBA5 Sarah Leigh marked gene: UBA5 as ready
Early onset or syndromic epilepsy GTPBP2 Konstantinos Varvagiannis Added gene to panel
Early onset or syndromic epilepsy IRF2BPL Konstantinos Varvagiannis edited their review of gene: IRF2BPL
Early onset or syndromic epilepsy UNC80 Sarah Leigh marked gene: UNC80 as ready
Early onset or syndromic epilepsy UNC80 Sarah Leigh classified UNC80 as Green List (high evidence)
Early onset or syndromic epilepsy VLDLR Sarah Leigh classified VLDLR as Amber List (moderate evidence)
Early onset or syndromic epilepsy VLDLR Sarah Leigh classified VLDLR as Red List (low evidence)
Early onset or syndromic epilepsy WDR62 Sarah Leigh marked gene: WDR62 as ready
Early onset or syndromic epilepsy WDR62 Sarah Leigh classified WDR62 as Green List (high evidence)
Early onset or syndromic epilepsy WDR73 Sarah Leigh marked gene: WDR73 as ready
Early onset or syndromic epilepsy WDR73 Sarah Leigh classified WDR73 as Green List (high evidence)
Early onset or syndromic epilepsy YWHAG Sarah Leigh marked gene: YWHAG as ready
Early onset or syndromic epilepsy YWHAG Sarah Leigh classified YWHAG as Green List (high evidence)
Early onset or syndromic epilepsy ZBTB18 Sarah Leigh marked gene: ZBTB18 as ready
Early onset or syndromic epilepsy ZBTB18 Sarah Leigh classified ZBTB18 as Green List (high evidence)
Early onset or syndromic epilepsy CAMK2G Sarah Leigh marked gene: CAMK2G as ready
Early onset or syndromic epilepsy CAMK2G Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DEAF1 Sarah Leigh marked gene: DEAF1 as ready
Early onset or syndromic epilepsy DEAF1 Sarah Leigh classified DEAF1 as Green List (high evidence)
Early onset or syndromic epilepsy DEAF1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SLC1A4 Zornitza Stark Added gene to panel
Early onset or syndromic epilepsy NEDD4L Sarah Leigh marked gene: NEDD4L as ready
Early onset or syndromic epilepsy NRXN1 Sarah Leigh marked gene: NRXN1 as ready
Early onset or syndromic epilepsy NRXN1 Sarah Leigh classified NRXN1 as Green List (high evidence)
Early onset or syndromic epilepsy FLNA Sarah Leigh marked gene: FLNA as ready
Early onset or syndromic epilepsy FLNA Sarah Leigh classified FLNA as Green List (high evidence)
Early onset or syndromic epilepsy KCNA1 Sarah Leigh marked gene: KCNA1 as ready
Early onset or syndromic epilepsy KCNA1 Sarah Leigh classified KCNA1 as Green List (high evidence)
Early onset or syndromic epilepsy EEF1A2 Sarah Leigh marked gene: EEF1A2 as ready
Early onset or syndromic epilepsy EEF1A2 Sarah Leigh classified EEF1A2 as Green List (high evidence)
Early onset or syndromic epilepsy EEF1A2 Sarah Leigh classified EEF1A2 as Green List (high evidence)
Early onset or syndromic epilepsy IRF2BPL Zornitza Stark edited their review of gene: IRF2BPL
Early onset or syndromic epilepsy PIGH Zornitza Stark reviewed gene: PIGH
Early onset or syndromic epilepsy ZBTB18 Zornitza Stark reviewed gene: ZBTB18
Early onset or syndromic epilepsy YWHAG Zornitza Stark reviewed gene: YWHAG
Early onset or syndromic epilepsy WDR73 Zornitza Stark reviewed gene: WDR73
Early onset or syndromic epilepsy WDR62 Zornitza Stark reviewed gene: WDR62
Early onset or syndromic epilepsy VLDLR Zornitza Stark reviewed gene: VLDLR
Early onset or syndromic epilepsy UNC80 Zornitza Stark reviewed gene: UNC80
Early onset or syndromic epilepsy UBA5 Zornitza Stark reviewed gene: UBA5
Early onset or syndromic epilepsy TUBG1 Zornitza Stark reviewed gene: TUBG1
Early onset or syndromic epilepsy TUBB4A Zornitza Stark reviewed gene: TUBB4A
Early onset or syndromic epilepsy TUBB3 Zornitza Stark reviewed gene: TUBB3
Early onset or syndromic epilepsy TUBB2B Zornitza Stark reviewed gene: TUBB2B
Early onset or syndromic epilepsy TUBB Zornitza Stark reviewed gene: TUBB
Early onset or syndromic epilepsy TUBA8 Zornitza Stark reviewed gene: TUBA8
Early onset or syndromic epilepsy TUBA1A Zornitza Stark reviewed gene: TUBA1A
Early onset or syndromic epilepsy TSFM Zornitza Stark reviewed gene: TSFM
Early onset or syndromic epilepsy TSEN54 Zornitza Stark reviewed gene: TSEN54
Early onset or syndromic epilepsy TSEN34 Zornitza Stark reviewed gene: TSEN34
Early onset or syndromic epilepsy TSEN2 Zornitza Stark reviewed gene: TSEN2
Early onset or syndromic epilepsy TSEN15 Zornitza Stark reviewed gene: TSEN15
Early onset or syndromic epilepsy TSC1 Zornitza Stark reviewed gene: TSC1
Early onset or syndromic epilepsy TRIP13 Zornitza Stark reviewed gene: TRIP13
Early onset or syndromic epilepsy TRIM8 Zornitza Stark reviewed gene: TRIM8
Early onset or syndromic epilepsy TREX1 Zornitza Stark reviewed gene: TREX1
Early onset or syndromic epilepsy TRAPPC6B Zornitza Stark reviewed gene: TRAPPC6B
Early onset or syndromic epilepsy TRAPPC12 Zornitza Stark reviewed gene: TRAPPC12
Early onset or syndromic epilepsy TNK2 Zornitza Stark reviewed gene: TNK2
Early onset or syndromic epilepsy TNK2 Zornitza Stark reviewed gene: TNK2
Early onset or syndromic epilepsy TMEM70 Zornitza Stark reviewed gene: TMEM70
Early onset or syndromic epilepsy TIMM50 Zornitza Stark reviewed gene: TIMM50
Early onset or syndromic epilepsy TFE3 Zornitza Stark reviewed gene: TFE3
Early onset or syndromic epilepsy TBL1XR1 Zornitza Stark reviewed gene: TBL1XR1
Early onset or syndromic epilepsy TBCK Zornitza Stark reviewed gene: TBCK
Early onset or syndromic epilepsy TBCD Zornitza Stark reviewed gene: TBCD
Early onset or syndromic epilepsy TBC1D20 Zornitza Stark reviewed gene: TBC1D20
Early onset or syndromic epilepsy SURF1 Zornitza Stark reviewed gene: SURF1
Early onset or syndromic epilepsy SUCLG1 Zornitza Stark reviewed gene: SUCLG1
Early onset or syndromic epilepsy SUCLA2 Zornitza Stark reviewed gene: SUCLA2
Early onset or syndromic epilepsy STAMBP Zornitza Stark reviewed gene: STAMBP
Early onset or syndromic epilepsy STAG1 Zornitza Stark reviewed gene: STAG1
Early onset or syndromic epilepsy ST3GAL5 Zornitza Stark reviewed gene: ST3GAL5
Early onset or syndromic epilepsy ST3GAL3 Zornitza Stark reviewed gene: ST3GAL3
Early onset or syndromic epilepsy SPR Zornitza Stark reviewed gene: SPR
Early onset or syndromic epilepsy SNORD118 Zornitza Stark reviewed gene: SNORD118
Early onset or syndromic epilepsy SMS Zornitza Stark reviewed gene: SMS
Early onset or syndromic epilepsy SMC1A Zornitza Stark reviewed gene: SMC1A
Early onset or syndromic epilepsy SMC1A Zornitza Stark reviewed gene: SMC1A
Early onset or syndromic epilepsy SLC6A8 Zornitza Stark reviewed gene: SLC6A8
Early onset or syndromic epilepsy SLC6A5 Zornitza Stark reviewed gene: SLC6A5
Early onset or syndromic epilepsy SLC45A1 Zornitza Stark reviewed gene: SLC45A1
Early onset or syndromic epilepsy SLC35A1 Zornitza Stark reviewed gene: SLC35A1
Early onset or syndromic epilepsy SLC25A12 Zornitza Stark reviewed gene: SLC25A12
Early onset or syndromic epilepsy SIX3 Zornitza Stark reviewed gene: SIX3
Early onset or syndromic epilepsy SHH Zornitza Stark reviewed gene: SHH
Early onset or syndromic epilepsy SETD1B Zornitza Stark reviewed gene: SETD1B
Early onset or syndromic epilepsy SETBP1 Zornitza Stark reviewed gene: SETBP1
Early onset or syndromic epilepsy SEPSECS Zornitza Stark reviewed gene: SEPSECS
Early onset or syndromic epilepsy SDHA Zornitza Stark reviewed gene: SDHA
Early onset or syndromic epilepsy SCO2 Zornitza Stark reviewed gene: SCO2
Early onset or syndromic epilepsy SCO1 Zornitza Stark reviewed gene: SCO1
Early onset or syndromic epilepsy SAMHD1 Zornitza Stark reviewed gene: SAMHD1
Early onset or syndromic epilepsy RUSC2 Zornitza Stark reviewed gene: RUSC2
Early onset or syndromic epilepsy RTTN Zornitza Stark reviewed gene: RTTN
Early onset or syndromic epilepsy RRM2B Zornitza Stark reviewed gene: RRM2B
Early onset or syndromic epilepsy RORB Zornitza Stark reviewed gene: RORB
Early onset or syndromic epilepsy RORA Zornitza Stark reviewed gene: RORA
Early onset or syndromic epilepsy ROGDI Zornitza Stark reviewed gene: ROGDI
Early onset or syndromic epilepsy RNU4ATAC Zornitza Stark reviewed gene: RNU4ATAC
Early onset or syndromic epilepsy RNASET2 Zornitza Stark reviewed gene: RNASET2
Early onset or syndromic epilepsy RNASEH2C Zornitza Stark reviewed gene: RNASEH2C
Early onset or syndromic epilepsy RNASEH2B Zornitza Stark reviewed gene: RNASEH2B
Early onset or syndromic epilepsy RNASEH2A Zornitza Stark reviewed gene: RNASEH2A
Early onset or syndromic epilepsy RMND1 Zornitza Stark reviewed gene: RMND1
Early onset or syndromic epilepsy RFT1 Zornitza Stark reviewed gene: RFT1
Early onset or syndromic epilepsy RARS2 Zornitza Stark reviewed gene: RARS2
Early onset or syndromic epilepsy RANBP2 Zornitza Stark reviewed gene: RANBP2
Early onset or syndromic epilepsy RAB3GAP2 Zornitza Stark reviewed gene: RAB3GAP2
Early onset or syndromic epilepsy RAB3GAP1 Zornitza Stark reviewed gene: RAB3GAP1
Early onset or syndromic epilepsy RAB18 Zornitza Stark reviewed gene: RAB18
Early onset or syndromic epilepsy RAB11B Zornitza Stark reviewed gene: RAB11B
Early onset or syndromic epilepsy QDPR Zornitza Stark reviewed gene: QDPR
Early onset or syndromic epilepsy PTS Zornitza Stark reviewed gene: PTS
Early onset or syndromic epilepsy PTF1A Zornitza Stark reviewed gene: PTF1A
Early onset or syndromic epilepsy PTEN Zornitza Stark reviewed gene: PTEN
Early onset or syndromic epilepsy PSPH Zornitza Stark reviewed gene: PSPH
Early onset or syndromic epilepsy PSAT1 Zornitza Stark reviewed gene: PSAT1
Early onset or syndromic epilepsy PSAP Zornitza Stark reviewed gene: PSAP
Early onset or syndromic epilepsy PROSC Zornitza Stark reviewed gene: PROSC
Early onset or syndromic epilepsy PRICKLE1 Zornitza Stark reviewed gene: PRICKLE1
Early onset or syndromic epilepsy PPT1 Zornitza Stark reviewed gene: PPT1
Early onset or syndromic epilepsy PPP3CA Zornitza Stark reviewed gene: PPP3CA
Early onset or syndromic epilepsy POMT2 Zornitza Stark reviewed gene: POMT2
Early onset or syndromic epilepsy POMT1 Zornitza Stark reviewed gene: POMT1
Early onset or syndromic epilepsy POMGNT1 Zornitza Stark reviewed gene: POMGNT1
Early onset or syndromic epilepsy PMM2 Zornitza Stark reviewed gene: PMM2
Early onset or syndromic epilepsy PLAA Zornitza Stark reviewed gene: PLAA
Early onset or syndromic epilepsy PIK3R2 Zornitza Stark reviewed gene: PIK3R2
Early onset or syndromic epilepsy PIK3CA Zornitza Stark reviewed gene: PIK3CA
Early onset or syndromic epilepsy PIGW Zornitza Stark reviewed gene: PIGW
Early onset or syndromic epilepsy CUX2 Konstantinos Varvagiannis Added gene to panel
Early onset or syndromic epilepsy RORA Konstantinos Varvagiannis Added gene to panel
Early onset or syndromic epilepsy PIGO Zornitza Stark reviewed gene: PIGO
Early onset or syndromic epilepsy PIGC Zornitza Stark reviewed gene: PIGC
Early onset or syndromic epilepsy PHGDH Zornitza Stark reviewed gene: PHGDH
Early onset or syndromic epilepsy PEX7 Zornitza Stark reviewed gene: PEX7
Early onset or syndromic epilepsy PEX1 Zornitza Stark reviewed gene: PEX1
Early onset or syndromic epilepsy PET100 Zornitza Stark reviewed gene: PET100
Early onset or syndromic epilepsy PDSS2 Zornitza Stark reviewed gene: PDSS2
Early onset or syndromic epilepsy PDHX Zornitza Stark reviewed gene: PDHX
Early onset or syndromic epilepsy PDHA1 Zornitza Stark reviewed gene: PDHA1
Early onset or syndromic epilepsy PCLO Zornitza Stark reviewed gene: PCLO
Early onset or syndromic epilepsy PCDH12 Zornitza Stark reviewed gene: PCDH12
Early onset or syndromic epilepsy PCCB Zornitza Stark reviewed gene: PCCB
Early onset or syndromic epilepsy PCCA Zornitza Stark reviewed gene: PCCA
Early onset or syndromic epilepsy PAH Zornitza Stark reviewed gene: PAH
Early onset or syndromic epilepsy PAFAH1B1 Zornitza Stark reviewed gene: PAFAH1B1
Early onset or syndromic epilepsy PACS2 Zornitza Stark reviewed gene: PACS2
Early onset or syndromic epilepsy PACS1 Zornitza Stark reviewed gene: PACS1
Early onset or syndromic epilepsy OTX2 Zornitza Stark reviewed gene: OTX2
Early onset or syndromic epilepsy OPHN1 Zornitza Stark reviewed gene: OPHN1
Early onset or syndromic epilepsy OCLN Zornitza Stark reviewed gene: OCLN
Early onset or syndromic epilepsy NUBPL Zornitza Stark reviewed gene: NUBPL
Early onset or syndromic epilepsy NSDHL Zornitza Stark reviewed gene: NSDHL
Early onset or syndromic epilepsy NSD1 Zornitza Stark reviewed gene: NSD1
Early onset or syndromic epilepsy NRXN1 Zornitza Stark reviewed gene: NRXN1
Early onset or syndromic epilepsy NRAS Zornitza Stark reviewed gene: NRAS
Early onset or syndromic epilepsy NPRL3 Zornitza Stark reviewed gene: NPRL3
Early onset or syndromic epilepsy NPRL2 Zornitza Stark reviewed gene: NPRL2
Early onset or syndromic epilepsy NHLRC1 Zornitza Stark reviewed gene: NHLRC1
Early onset or syndromic epilepsy NGLY1 Zornitza Stark reviewed gene: NGLY1
Early onset or syndromic epilepsy NEDD4L Zornitza Stark reviewed gene: NEDD4L
Early onset or syndromic epilepsy NECAP1 Zornitza Stark commented on gene: NECAP1
Early onset or syndromic epilepsy NECAP1 Zornitza Stark reviewed gene: NECAP1
Early onset or syndromic epilepsy NDUFV1 Zornitza Stark commented on gene: NDUFV1
Early onset or syndromic epilepsy NDUFV1 Zornitza Stark reviewed gene: NDUFV1
Early onset or syndromic epilepsy NDUFS8 Zornitza Stark reviewed gene: NDUFS8
Early onset or syndromic epilepsy NDUFS7 Zornitza Stark reviewed gene: NDUFS7
Early onset or syndromic epilepsy NDUFS6 Zornitza Stark reviewed gene: NDUFS6
Early onset or syndromic epilepsy NDUFS4 Zornitza Stark reviewed gene: NDUFS4
Early onset or syndromic epilepsy NDUFS2 Zornitza Stark reviewed gene: NDUFS2
Early onset or syndromic epilepsy NDUFS1 Zornitza Stark reviewed gene: NDUFS1
Early onset or syndromic epilepsy NDUFAF5 Zornitza Stark reviewed gene: NDUFAF5
Early onset or syndromic epilepsy NDUFAF4 Zornitza Stark reviewed gene: NDUFAF4
Early onset or syndromic epilepsy NDUFAF3 Zornitza Stark reviewed gene: NDUFAF3
Early onset or syndromic epilepsy NDUFAF2 Zornitza Stark reviewed gene: NDUFAF2
Early onset or syndromic epilepsy NDUFA2 Zornitza Stark reviewed gene: NDUFA2
Early onset or syndromic epilepsy NDUFA10 Zornitza Stark reviewed gene: NDUFA10
Early onset or syndromic epilepsy NDUFA1 Zornitza Stark reviewed gene: NDUFA1
Early onset or syndromic epilepsy NDP Zornitza Stark reviewed gene: NDP
Early onset or syndromic epilepsy NDE1 Zornitza Stark reviewed gene: NDE1
Early onset or syndromic epilepsy NARS2 Zornitza Stark reviewed gene: NARS2
Early onset or syndromic epilepsy NAGA Zornitza Stark reviewed gene: NAGA
Early onset or syndromic epilepsy PACS1 Konstantinos Varvagiannis Added gene to panel
Early onset or syndromic epilepsy PACS2 Konstantinos Varvagiannis reviewed gene: PACS2
Early onset or syndromic epilepsy PACS2 Konstantinos Varvagiannis reviewed gene: PACS2
Early onset or syndromic epilepsy PACS2 Konstantinos Varvagiannis Added gene to panel
Early onset or syndromic epilepsy MTR Zornitza Stark reviewed gene: MTR
Early onset or syndromic epilepsy MTHFR Zornitza Stark reviewed gene: MTHFR
Early onset or syndromic epilepsy MPDU1 Zornitza Stark reviewed gene: MPDU1
Early onset or syndromic epilepsy MOCS2 Zornitza Stark reviewed gene: MOCS2
Early onset or syndromic epilepsy MOCS1 Zornitza Stark reviewed gene: MOCS1
Early onset or syndromic epilepsy MMADHC Zornitza Stark reviewed gene: MMADHC
Early onset or syndromic epilepsy MMACHC Zornitza Stark reviewed gene: MMACHC
Early onset or syndromic epilepsy MLC1 Zornitza Stark reviewed gene: MLC1
Early onset or syndromic epilepsy MED12 Zornitza Stark reviewed gene: MED12
Early onset or syndromic epilepsy MAPK10 Zornitza Stark reviewed gene: MAPK10
Early onset or syndromic epilepsy MAP2K2 Zornitza Stark reviewed gene: MAP2K2
Early onset or syndromic epilepsy MAP2K1 Zornitza Stark reviewed gene: MAP2K1
Early onset or syndromic epilepsy MANBA Zornitza Stark reviewed gene: MANBA
Early onset or syndromic epilepsy LNPK Zornitza Stark reviewed gene: LNPK
Early onset or syndromic epilepsy LIPT2 Zornitza Stark reviewed gene: LIPT2
Early onset or syndromic epilepsy LIAS Zornitza Stark reviewed gene: LIAS
Early onset or syndromic epilepsy LARGE1 Zornitza Stark reviewed gene: LARGE1
Early onset or syndromic epilepsy GRIA4 Zornitza Stark Added gene to panel
Early onset or syndromic epilepsy KRAS Zornitza Stark reviewed gene: KRAS
Early onset or syndromic epilepsy KPTN Zornitza Stark reviewed gene: KPTN
Early onset or syndromic epilepsy KIF5C Zornitza Stark reviewed gene: KIF5C
Early onset or syndromic epilepsy KIF2A Zornitza Stark reviewed gene: KIF2A
Early onset or syndromic epilepsy KIF1A Zornitza Stark reviewed gene: KIF1A
Early onset or syndromic epilepsy KIAA1109 Zornitza Stark reviewed gene: KIAA1109
Early onset or syndromic epilepsy KCTD3 Zornitza Stark reviewed gene: KCTD3
Early onset or syndromic epilepsy KCNQ5 Zornitza Stark reviewed gene: KCNQ5
Early onset or syndromic epilepsy KCNMA1 Zornitza Stark reviewed gene: KCNMA1
Early onset or syndromic epilepsy KCNJ11 Zornitza Stark reviewed gene: KCNJ11
Early onset or syndromic epilepsy KAT5 Zornitza Stark reviewed gene: KAT5
Early onset or syndromic epilepsy ISPD Zornitza Stark reviewed gene: ISPD
Early onset or syndromic epilepsy IRF2BPL Zornitza Stark reviewed gene: IRF2BPL
Early onset or syndromic epilepsy IKBKG Zornitza Stark reviewed gene: IKBKG
Early onset or syndromic epilepsy IFIH1 Zornitza Stark reviewed gene: IFIH1
Early onset or syndromic epilepsy FBXO11 Konstantinos Varvagiannis Added gene to panel
Early onset or syndromic epilepsy IRF2BPL Konstantinos Varvagiannis edited their review of gene: IRF2BPL
Early onset or syndromic epilepsy IRF2BPL Konstantinos Varvagiannis Added gene to panel
Early onset or syndromic epilepsy H3F3B Konstantinos Varvagiannis reviewed gene: H3F3B
Early onset or syndromic epilepsy HSPD1 Zornitza Stark reviewed gene: HSPD1
Early onset or syndromic epilepsy HSD17B4 Zornitza Stark reviewed gene: HSD17B4
Early onset or syndromic epilepsy HRAS Zornitza Stark reviewed gene: HRAS
Early onset or syndromic epilepsy HPRT1 Zornitza Stark reviewed gene: HPRT1
Early onset or syndromic epilepsy HOXA1 Zornitza Stark reviewed gene: HOXA1
Early onset or syndromic epilepsy HLCS Zornitza Stark reviewed gene: HLCS
Early onset or syndromic epilepsy HEXB Zornitza Stark reviewed gene: HEXB
Early onset or syndromic epilepsy HEXA Zornitza Stark reviewed gene: HEXA
Early onset or syndromic epilepsy HEPACAM Zornitza Stark reviewed gene: HEPACAM
Early onset or syndromic epilepsy HCN2 Zornitza Stark reviewed gene: HCN2
Early onset or syndromic epilepsy HCFC1 Zornitza Stark reviewed gene: HCFC1
Early onset or syndromic epilepsy HCCS Zornitza Stark reviewed gene: HCCS
Early onset or syndromic epilepsy HAX1 Zornitza Stark reviewed gene: HAX1
Early onset or syndromic epilepsy H3F3B Zornitza Stark reviewed gene: H3F3B
Early onset or syndromic epilepsy H3F3A Zornitza Stark reviewed gene: H3F3A
Early onset or syndromic epilepsy LNPK Konstantinos Varvagiannis Added gene to panel
Early onset or syndromic epilepsy GTPBP3 Zornitza Stark reviewed gene: GTPBP3
Early onset or syndromic epilepsy GRIN2D Zornitza Stark reviewed gene: GRIN2D
Early onset or syndromic epilepsy GPHN Zornitza Stark reviewed gene: GPHN
Early onset or syndromic epilepsy GOSR2 Zornitza Stark reviewed gene: GOSR2
Early onset or syndromic epilepsy GNB1 Zornitza Stark reviewed gene: GNB1
Early onset or syndromic epilepsy GNAQ Zornitza Stark reviewed gene: GNAQ
Early onset or syndromic epilepsy GM2A Zornitza Stark reviewed gene: GM2A
Early onset or syndromic epilepsy GLUL Zornitza Stark reviewed gene: GLUL
Early onset or syndromic epilepsy DHCR7 Sarah Leigh classified DHCR7 as Green List (high evidence)
Early onset or syndromic epilepsy DHCR7 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ADPRHL2 Konstantinos Varvagiannis reviewed gene: ADPRHL2
Early onset or syndromic epilepsy GLUD1 Zornitza Stark reviewed gene: GLUD1
Early onset or syndromic epilepsy GLI3 Zornitza Stark reviewed gene: GLI3
Early onset or syndromic epilepsy GLDC Zornitza Stark reviewed gene: GLDC
Early onset or syndromic epilepsy GLB1 Zornitza Stark reviewed gene: GLB1
Early onset or syndromic epilepsy GFM1 Zornitza Stark reviewed gene: GFM1
Early onset or syndromic epilepsy GFAP Zornitza Stark reviewed gene: GFAP
Early onset or syndromic epilepsy COG7 Sarah Leigh marked gene: COG7 as ready
Early onset or syndromic epilepsy COG7 Sarah Leigh classified COG7 as Green List (high evidence)
Early onset or syndromic epilepsy GCSH Zornitza Stark reviewed gene: GCSH
Early onset or syndromic epilepsy GCH1 Zornitza Stark reviewed gene: GCH1
Early onset or syndromic epilepsy GBA Zornitza Stark reviewed gene: GBA
Early onset or syndromic epilepsy GAMT Zornitza Stark reviewed gene: GAMT
Early onset or syndromic epilepsy GALC Zornitza Stark reviewed gene: GALC
Early onset or syndromic epilepsy GABRB2 Zornitza Stark reviewed gene: GABRB2
Early onset or syndromic epilepsy FUCA1 Zornitza Stark reviewed gene: FUCA1
Early onset or syndromic epilepsy FRRS1L Zornitza Stark reviewed gene: FRRS1L
Early onset or syndromic epilepsy FOXRED1 Zornitza Stark reviewed gene: FOXRED1
Early onset or syndromic epilepsy FOLR1 Zornitza Stark reviewed gene: FOLR1
Early onset or syndromic epilepsy FLNA Zornitza Stark reviewed gene: FLNA
Early onset or syndromic epilepsy FKTN Zornitza Stark reviewed gene: FKTN
Early onset or syndromic epilepsy FKRP Zornitza Stark reviewed gene: FKRP
Early onset or syndromic epilepsy FIG4 Zornitza Stark reviewed gene: FIG4
Early onset or syndromic epilepsy PEX6 Sarah Leigh classified PEX6 as Green List (high evidence)
Early onset or syndromic epilepsy PEX6 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PEX5 Sarah Leigh classified PEX5 as Amber List (moderate evidence)
Early onset or syndromic epilepsy PEX5 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PEX3 Sarah Leigh classified PEX3 as Green List (high evidence)
Early onset or syndromic epilepsy PEX3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FH Zornitza Stark reviewed gene: FH
Early onset or syndromic epilepsy FGFR3 Zornitza Stark reviewed gene: FGFR3
Early onset or syndromic epilepsy PEX19 Sarah Leigh classified PEX19 as Green List (high evidence)
Early onset or syndromic epilepsy PEX19 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FGF12 Zornitza Stark reviewed gene: FGF12
Early onset or syndromic epilepsy FBXL4 Zornitza Stark reviewed gene: FBXL4
Early onset or syndromic epilepsy FASTKD2 Zornitza Stark reviewed gene: FASTKD2
Early onset or syndromic epilepsy FARS2 Zornitza Stark reviewed gene: FARS2
Early onset or syndromic epilepsy EXOSC3 Zornitza Stark reviewed gene: EXOSC3
Early onset or syndromic epilepsy ETHE1 Zornitza Stark reviewed gene: ETHE1
Early onset or syndromic epilepsy EMX2 Zornitza Stark reviewed gene: EMX2
Early onset or syndromic epilepsy EIF2S3 Zornitza Stark reviewed gene: EIF2S3
Early onset or syndromic epilepsy EIF2B5 Zornitza Stark reviewed gene: EIF2B5
Early onset or syndromic epilepsy EIF2B4 Zornitza Stark reviewed gene: EIF2B4
Early onset or syndromic epilepsy EIF2B3 Zornitza Stark reviewed gene: EIF2B3
Early onset or syndromic epilepsy EIF2B2 Zornitza Stark reviewed gene: EIF2B2
Early onset or syndromic epilepsy EIF2B1 Zornitza Stark reviewed gene: EIF2B1
Early onset or syndromic epilepsy EEF1A2 Zornitza Stark reviewed gene: EEF1A2
Early onset or syndromic epilepsy EARS2 Zornitza Stark reviewed gene: EARS2
Early onset or syndromic epilepsy DYNC1H1 Zornitza Stark reviewed gene: DYNC1H1
Early onset or syndromic epilepsy DPM2 Zornitza Stark reviewed gene: DPM2
Early onset or syndromic epilepsy DPM1 Zornitza Stark reviewed gene: DPM1
Early onset or syndromic epilepsy DPAGT1 Zornitza Stark reviewed gene: DPAGT1
Early onset or syndromic epilepsy DOLK Zornitza Stark reviewed gene: DOLK
Early onset or syndromic epilepsy DNM1L Zornitza Stark reviewed gene: DNM1L
Early onset or syndromic epilepsy DNAJC6 Zornitza Stark reviewed gene: DNAJC6
Early onset or syndromic epilepsy DHCR24 Zornitza Stark reviewed gene: DHCR24
Early onset or syndromic epilepsy DENND5A Zornitza Stark reviewed gene: DENND5A
Early onset or syndromic epilepsy ADPRHL2 Zornitza Stark Added gene to panel
Early onset or syndromic epilepsy DDX3X Zornitza Stark reviewed gene: DDX3X
Early onset or syndromic epilepsy DCX Zornitza Stark reviewed gene: DCX
Early onset or syndromic epilepsy DBT Zornitza Stark reviewed gene: DBT
Early onset or syndromic epilepsy D2HGDH Zornitza Stark reviewed gene: D2HGDH
Early onset or syndromic epilepsy CTSD Zornitza Stark reviewed gene: CTSD
Early onset or syndromic epilepsy CSTB Zornitza Stark reviewed gene: CSTB
Early onset or syndromic epilepsy CSNK2B Zornitza Stark reviewed gene: CSNK2B
Early onset or syndromic epilepsy COX15 Zornitza Stark reviewed gene: COX15
Early onset or syndromic epilepsy COX10 Zornitza Stark reviewed gene: COX10
Early onset or syndromic epilepsy COQ9 Zornitza Stark reviewed gene: COQ9
Early onset or syndromic epilepsy COQ6 Zornitza Stark reviewed gene: COQ6
Early onset or syndromic epilepsy COQ4 Zornitza Stark reviewed gene: COQ4
Early onset or syndromic epilepsy COQ2 Zornitza Stark reviewed gene: COQ2
Early onset or syndromic epilepsy COL4A2 Zornitza Stark reviewed gene: COL4A2
Early onset or syndromic epilepsy COL4A1 Zornitza Stark reviewed gene: COL4A1
Early onset or syndromic epilepsy COL18A1 Zornitza Stark reviewed gene: COL18A1
Early onset or syndromic epilepsy COG8 Zornitza Stark reviewed gene: COG8
Early onset or syndromic epilepsy COG7 Zornitza Stark reviewed gene: COG7
Early onset or syndromic epilepsy COG6 Zornitza Stark reviewed gene: COG6
Early onset or syndromic epilepsy COG4 Zornitza Stark reviewed gene: COG4
Early onset or syndromic epilepsy CNPY3 Zornitza Stark reviewed gene: CNPY3
Early onset or syndromic epilepsy CLN3 Zornitza Stark reviewed gene: CLN3
Early onset or syndromic epilepsy CLCN4 Zornitza Stark reviewed gene: CLCN4
Early onset or syndromic epilepsy CCND2 Zornitza Stark reviewed gene: CCND2
Early onset or syndromic epilepsy CCDC88A Zornitza Stark reviewed gene: CCDC88A
Early onset or syndromic epilepsy CC2D2A Zornitza Stark reviewed gene: CC2D2A
Early onset or syndromic epilepsy CASK Zornitza Stark reviewed gene: CASK
Early onset or syndromic epilepsy CACNA2D2 Zornitza Stark reviewed gene: CACNA2D2
Early onset or syndromic epilepsy CACNA1H Zornitza Stark reviewed gene: CACNA1H
Early onset or syndromic epilepsy C12orf57 Zornitza Stark reviewed gene: C12orf57
Early onset or syndromic epilepsy BTD Zornitza Stark reviewed gene: BTD
Early onset or syndromic epilepsy BRAF Zornitza Stark reviewed gene: BRAF
Early onset or syndromic epilepsy BOLA3 Zornitza Stark reviewed gene: BOLA3
Early onset or syndromic epilepsy BCS1L Zornitza Stark reviewed gene: BCS1L
Early onset or syndromic epilepsy BCKDHB Zornitza Stark reviewed gene: BCKDHB
Early onset or syndromic epilepsy BCKDHA Zornitza Stark reviewed gene: BCKDHA
Early onset or syndromic epilepsy ATP7A Zornitza Stark reviewed gene: ATP7A
Early onset or syndromic epilepsy ATP1A2 Zornitza Stark reviewed gene: ATP1A2
Early onset or syndromic epilepsy ALG8 Zornitza Stark reviewed gene: ALG8
Early onset or syndromic epilepsy AKT1 Zornitza Stark reviewed gene: AKT1
Early onset or syndromic epilepsy PEX12 Sarah Leigh marked gene: PEX12 as ready
Early onset or syndromic epilepsy PEX12 Sarah Leigh classified PEX12 as Green List (high evidence)
Early onset or syndromic epilepsy PEX12 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TUBA3E Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TSEN15 Sarah Leigh classified TSEN15 as Amber List (moderate evidence)
Early onset or syndromic epilepsy TSEN15 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SEC24D Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PCDHB4 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MATN4 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NID1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy INO80 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DMBX1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PTPN23 Sarah Leigh classified PTPN23 as Green List (high evidence)
Early onset or syndromic epilepsy PTPN23 Sarah Leigh marked gene: PTPN23 as ready
Early onset or syndromic epilepsy SCN3A Sarah Leigh marked gene: SCN3A as ready
Early onset or syndromic epilepsy SCN3A Sarah Leigh classified SCN3A as Green List (high evidence)
Early onset or syndromic epilepsy SCN3A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SRPX2 Sarah Leigh classified SRPX2 as Red List (low evidence)
Early onset or syndromic epilepsy GAL Sarah Leigh classified GAL as Red List (low evidence)
Early onset or syndromic epilepsy GAL Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RELN Sarah Leigh commented on gene: RELN
Early onset or syndromic epilepsy RELN Sarah Leigh classified RELN as Green List (high evidence)
Early onset or syndromic epilepsy PSMB8 Sarah Leigh commented on gene: PSMB8
Early onset or syndromic epilepsy PSMB8 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy LYST Sarah Leigh classified LYST as Green List (high evidence)
Early onset or syndromic epilepsy LYST Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ARV1 Sarah Leigh classified ARV1 as Green List (high evidence)
Early onset or syndromic epilepsy TSC2 Sarah Leigh marked gene: TSC2 as ready
Early onset or syndromic epilepsy TSC2 Sarah Leigh classified TSC2 as Green List (high evidence)
Early onset or syndromic epilepsy TSC2 Sarah Leigh classified TSC2 as Green List (high evidence)
Early onset or syndromic epilepsy CACNA1A Sarah Leigh classified CACNA1A as Green List (high evidence)
Early onset or syndromic epilepsy EIF2B5 Sarah Leigh classified EIF2B5 as Green List (high evidence)
Early onset or syndromic epilepsy EFHC1 Sarah Leigh classified EFHC1 as Green List (high evidence)
Early onset or syndromic epilepsy ATP5A1 Sarah Leigh marked gene: ATP5A1 as ready
Early onset or syndromic epilepsy ATP5A1 Sarah Leigh classified ATP5A1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy ASPA Sarah Leigh marked gene: ASPA as ready
Early onset or syndromic epilepsy ASPA Sarah Leigh classified ASPA as Green List (high evidence)
Early onset or syndromic epilepsy ARV1 Sarah Leigh edited their review of gene: ARV1
Early onset or syndromic epilepsy ARV1 Sarah Leigh classified ARV1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy ARID1B Sarah Leigh marked gene: ARID1B as ready
Early onset or syndromic epilepsy ARID1B Sarah Leigh classified ARID1B as Green List (high evidence)
Early onset or syndromic epilepsy ARFGEF2 Sarah Leigh marked gene: ARFGEF2 as ready
Early onset or syndromic epilepsy ARFGEF2 Sarah Leigh classified ARFGEF2 as Green List (high evidence)
Early onset or syndromic epilepsy AP3B2 Sarah Leigh marked gene: AP3B2 as ready
Early onset or syndromic epilepsy AP3B2 Sarah Leigh classified AP3B2 as Green List (high evidence)
Early onset or syndromic epilepsy AMT Sarah Leigh marked gene: AMT as ready
Early onset or syndromic epilepsy AMT Sarah Leigh classified AMT as Green List (high evidence)
Early onset or syndromic epilepsy ALPL Sarah Leigh marked gene: ALPL as ready
Early onset or syndromic epilepsy AMPD2 Sarah Leigh classified AMPD2 as Green List (high evidence)
Early onset or syndromic epilepsy ALPL Sarah Leigh classified ALPL as Green List (high evidence)
Early onset or syndromic epilepsy ALG9 Sarah Leigh marked gene: ALG9 as ready
Early onset or syndromic epilepsy ALG9 Sarah Leigh classified ALG9 as Green List (high evidence)
Early onset or syndromic epilepsy ALG6 Sarah Leigh marked gene: ALG6 as ready
Early onset or syndromic epilepsy ALG6 Sarah Leigh classified ALG6 as Green List (high evidence)
Early onset or syndromic epilepsy ALG3 Sarah Leigh marked gene: ALG3 as ready
Early onset or syndromic epilepsy ALG3 Sarah Leigh classified ALG3 as Green List (high evidence)
Early onset or syndromic epilepsy ALG2 Sarah Leigh classified ALG2 as Red List (low evidence)
Early onset or syndromic epilepsy ALG12 Sarah Leigh marked gene: ALG12 as ready
Early onset or syndromic epilepsy ALG12 Sarah Leigh classified ALG12 as Red List (low evidence)
Early onset or syndromic epilepsy ALG1 Sarah Leigh marked gene: ALG1 as ready
Early onset or syndromic epilepsy ALG1 Sarah Leigh classified ALG1 as Green List (high evidence)
Early onset or syndromic epilepsy ALDH5A1 Sarah Leigh marked gene: ALDH5A1 as ready
Early onset or syndromic epilepsy ALDH5A1 Sarah Leigh classified ALDH5A1 as Green List (high evidence)
Early onset or syndromic epilepsy AKT3 Sarah Leigh marked gene: AKT3 as ready
Early onset or syndromic epilepsy AKT3 Sarah Leigh classified AKT3 as Green List (high evidence)
Early onset or syndromic epilepsy AKT3 Sarah Leigh classified AKT3 as Green List (high evidence)
Early onset or syndromic epilepsy AIMP1 Sarah Leigh marked gene: AIMP1 as ready
Early onset or syndromic epilepsy AIMP1 Sarah Leigh classified AIMP1 as Green List (high evidence)
Early onset or syndromic epilepsy ADGRG1 Sarah Leigh classified ADGRG1 as Green List (high evidence)
Early onset or syndromic epilepsy ADAR Sarah Leigh marked gene: ADAR as ready
Early onset or syndromic epilepsy ADAR Sarah Leigh classified ADAR as Green List (high evidence)
Early onset or syndromic epilepsy ACOX1 Sarah Leigh marked gene: ACOX1 as ready
Early onset or syndromic epilepsy ACOX1 Sarah Leigh classified ACOX1 as Green List (high evidence)
Early onset or syndromic epilepsy ABAT Sarah Leigh marked gene: ABAT as ready
Early onset or syndromic epilepsy ABAT Sarah Leigh classified ABAT as Green List (high evidence)
Early onset or syndromic epilepsy AARS2 Sarah Leigh marked gene: AARS2 as ready
Early onset or syndromic epilepsy AARS2 Sarah Leigh classified AARS2 as Red List (low evidence)
Early onset or syndromic epilepsy ALG8 Sarah Leigh marked gene: ALG8 as ready
Early onset or syndromic epilepsy ALG8 Sarah Leigh classified ALG8 as Red List (low evidence)
Early onset or syndromic epilepsy WASF1 Sarah Leigh commented on gene: WASF1
Early onset or syndromic epilepsy WASF1 Sarah Leigh classified WASF1 as Green List (high evidence)
Early onset or syndromic epilepsy WASF1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ATP5A1 Arianna Tucci reviewed gene: ATP5A1
Early onset or syndromic epilepsy ASPA Arianna Tucci reviewed gene: ASPA
Early onset or syndromic epilepsy ARV1 Arianna Tucci reviewed gene: ARV1
Early onset or syndromic epilepsy ARID1B Arianna Tucci reviewed gene: ARID1B
Early onset or syndromic epilepsy ARFGEF2 Arianna Tucci reviewed gene: ARFGEF2
Early onset or syndromic epilepsy AP3B2 Arianna Tucci reviewed gene: AP3B2
Early onset or syndromic epilepsy AMT Arianna Tucci reviewed gene: AMT
Early onset or syndromic epilepsy AMPD2 Arianna Tucci reviewed gene: AMPD2
Early onset or syndromic epilepsy ALPL Arianna Tucci reviewed gene: ALPL
Early onset or syndromic epilepsy ALG9 Arianna Tucci reviewed gene: ALG9
Early onset or syndromic epilepsy ALG9 Arianna Tucci reviewed gene: ALG9
Early onset or syndromic epilepsy ALG8 Arianna Tucci reviewed gene: ALG8
Early onset or syndromic epilepsy ALG6 Arianna Tucci reviewed gene: ALG6
Early onset or syndromic epilepsy ALG3 Arianna Tucci reviewed gene: ALG3
Early onset or syndromic epilepsy ALG2 Arianna Tucci reviewed gene: ALG2
Early onset or syndromic epilepsy ALG12 Arianna Tucci reviewed gene: ALG12
Early onset or syndromic epilepsy ALG1 Arianna Tucci reviewed gene: ALG1
Early onset or syndromic epilepsy ALDH5A1 Arianna Tucci reviewed gene: ALDH5A1
Early onset or syndromic epilepsy AKT3 Arianna Tucci reviewed gene: AKT3
Early onset or syndromic epilepsy AKT1 Arianna Tucci reviewed gene: AKT1
Early onset or syndromic epilepsy AIMP1 Arianna Tucci reviewed gene: AIMP1
Early onset or syndromic epilepsy ADGRG1 Arianna Tucci reviewed gene: ADGRG1
Early onset or syndromic epilepsy ADAR Arianna Tucci reviewed gene: ADAR
Early onset or syndromic epilepsy ACOX1 Arianna Tucci reviewed gene: ACOX1
Early onset or syndromic epilepsy ABAT Arianna Tucci reviewed gene: ABAT
Early onset or syndromic epilepsy AARS2 Arianna Tucci reviewed gene: AARS2
Early onset or syndromic epilepsy ASAH1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ZBTB18 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy YWHAG Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy WDR73 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy WDR62 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy VLDLR Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy UNC80 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy UBA5 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TUBG1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TUBB4A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TUBB3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TUBB2B Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TUBB Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TUBA8 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TUBA1A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TSFM Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TSEN54 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TSEN34 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TSEN2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TRIP13 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TRIM8 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TREX1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TRAPPC6B Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TRAPPC12 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TNK2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TMEM70 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TIMM50 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TFE3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TBCK Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TBCD Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TBC1D20 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SURF1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SUCLG1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SUCLA2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy STAMBP Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy STAG1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ST3GAL5 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SPR Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SNORD118 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SMC1A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SLC45A1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SLC25A12 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SIX3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SHH Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SETD1B Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SETBP1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SEPSECS Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SDHA Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SCO2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SCO1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SAMHD1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RUSC2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RRM2B Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RORB Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ROGDI Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RNU4ATAC Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RNASET2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RNASEH2C Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RNASEH2B Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RNASEH2A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RMND1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RFT1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RELN Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RARS2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RAB3GAP2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RAB3GAP1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RAB18 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RAB11B Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy QDPR Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PTS Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PTPN23 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PTF1A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PTEN Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PSPH Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PSAT1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PSAP Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PROSC Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PPP3CA Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy POMT2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy POMT1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy POMGNT1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PMM2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PLAA Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PIK3R2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PIK3CA Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PIGW Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PIGO Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PIGC Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PHGDH Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PEX7 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PEX1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PET100 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PDSS2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PDHX Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PDHA1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PCLO Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PCCB Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PCCA Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PAH Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PAFAH1B1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy OTX2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy OPHN1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy OCLN Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NUBPL Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NSDHL Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NSD1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NRAS Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NPRL3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NPRL2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NGLY1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDUFV1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDUFS8 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDUFS7 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDUFS6 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDUFS4 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDUFS2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDUFS1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDUFAF5 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDUFAF4 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDUFAF3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDUFAF2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDUFA2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDUFA11 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDUFA10 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDUFA1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDP Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDE1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NARS2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NAGA Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MTR Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MTHFR Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MPDU1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MMADHC Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MMACHC Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MLC1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MED12 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MAP2K2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MAP2K1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MANBA Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy LIPT2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy LIAS Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy LARGE1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy KRAS Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy KIF5C Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy KIF2A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy KIF1A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy KIAA1109 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy KCTD3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy KCNQ5 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy KCNJ11 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy KAT5 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ISPD Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy IKBKG Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy IFIH1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy HSPD1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy HSD17B4 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy HRAS Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy HPRT1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy HOXA1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy HEXB Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy HEXA Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy HEPACAM Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy HCN2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy HCFC1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy HCCS Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy H3F3B Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy H3F3A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GTPBP3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GRIN2D Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GNB1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GNAQ Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GM2A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GLUL Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GLUD1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GLI3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GLDC Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GLB1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GFM1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GFAP Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GCSH Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GCH1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GBA Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GALC Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GABRB2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FUCA1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FRRS1L Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FOXRED1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FOLR1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FLNA Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FKTN Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FKRP Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FIG4 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FH Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FGFR3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FGF12 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FBXL4 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FASTKD2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FARS2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy EXOSC3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ETHE1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy EMX2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy EIF2S3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy EIF2B5 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy EIF2B4 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy EIF2B3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy EIF2B2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy EIF2B1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy EARS2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DYNC1H1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DPM2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DPM1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DPAGT1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DOLK Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DNM1L Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DNAJC6 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DHCR24 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DENND5A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DDX3X Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DCX Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DBT Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy D2HGDH Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CSNK2B Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy COX15 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy COX10 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy COQ9 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy COQ6 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy COQ4 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy COQ2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy COL18A1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy COG8 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy COG7 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy COG6 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy COG4 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CNPY3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CLCN4 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CCND2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CCDC88A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CC2D2A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CACNA2D2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy C12orf57 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy BRAF Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy BOLA3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy BCS1L Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy BCKDHB Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy BCKDHA Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ATP7A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ATP5A1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ASPA Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ARV1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ARID1B Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ARFGEF2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy AMT Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy AMPD2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ALPL Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ALG9 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ALG8 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ALG6 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ALG3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ALG2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ALG12 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ALG1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ALDH5A1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy AKT3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy AKT1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy AIMP1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ADGRG1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ADAR Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ACOX1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy AARS2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ATP1A2 Sarah Leigh classified ATP1A2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy PNPO Sarah Leigh classified PNPO as Green List (high evidence)
Early onset or syndromic epilepsy STRADA Sarah Leigh classified STRADA as Green List (high evidence)
Early onset or syndromic epilepsy STRADA Sarah Leigh classified STRADA as Red List (low evidence)
Early onset or syndromic epilepsy STRADA Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SYN1 Sarah Leigh classified SYN1 as Green List (high evidence)
Early onset or syndromic epilepsy SYN1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SNIP1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SLC35A1 Sarah Leigh classified SLC35A1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy SLC35A1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy KCNMA1 Sarah Leigh classified KCNMA1 as Red List (low evidence)
Early onset or syndromic epilepsy GABRD Sarah Leigh classified GABRD as Red List (low evidence)
Early onset or syndromic epilepsy FTL Sarah Leigh classified FTL as Red List (low evidence)
Early onset or syndromic epilepsy EPM2A Sarah Leigh classified EPM2A as Green List (high evidence)
Early onset or syndromic epilepsy EFHC1 Sarah Leigh classified EFHC1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy EFHC1 Sarah Leigh classified EFHC1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy CACNA1H Sarah Leigh classified CACNA1H as Amber List (moderate evidence)
Early onset or syndromic epilepsy TPP1 Sarah Leigh classified TPP1 as Green List (high evidence)
Early onset or syndromic epilepsy CACNA1G Sarah Leigh classified CACNA1G as Green List (high evidence)
Early onset or syndromic epilepsy CACNA1G Sarah Leigh classified CACNA1G as Green List (high evidence)
Early onset or syndromic epilepsy AARS Sarah Leigh classified AARS as Green List (high evidence)
Early onset or syndromic epilepsy AARS Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SRPX2 Sarah Leigh commented on SRPX2
Early onset or syndromic epilepsy SRPX2 Sarah Leigh classified SRPX2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy SCARB2 Sarah Leigh commented on SCARB2
Early onset or syndromic epilepsy SCARB2 Sarah Leigh classified SCARB2 as Green List (high evidence)
Early onset or syndromic epilepsy RUBCN Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RTTN Sarah Leigh classified RTTN as Amber List (moderate evidence)
Early onset or syndromic epilepsy RTTN Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RTN4IP1 Sarah Leigh classified RTN4IP1 as Green List (high evidence)
Early onset or syndromic epilepsy RTN4IP1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PRMT7 Sarah Leigh classified PRMT7 as Green List (high evidence)
Early onset or syndromic epilepsy PRMT7 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PIGN Sarah Leigh classified PIGN as Green List (high evidence)
Early onset or syndromic epilepsy PIGN Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PIGH Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy OTUD6B Sarah Leigh classified OTUD6B as Green List (high evidence)
Early onset or syndromic epilepsy OTUD6B Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MED17 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MBOAT7 Sarah Leigh classified MBOAT7 as Green List (high evidence)
Early onset or syndromic epilepsy MBOAT7 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MAF Sarah Leigh classified MAF as Green List (high evidence)
Early onset or syndromic epilepsy MAF Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy KPTN Sarah Leigh classified KPTN as Amber List (moderate evidence)
Early onset or syndromic epilepsy KPTN Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy KCTD7 Sarah Leigh commented on KCTD7
Early onset or syndromic epilepsy KCTD7 Sarah Leigh classified KCTD7 as Green List (high evidence)
Early onset or syndromic epilepsy KCNC1 Sarah Leigh commented on KCNC1
Early onset or syndromic epilepsy KCNC1 Sarah Leigh classified KCNC1 as Green List (high evidence)
Early onset or syndromic epilepsy HECW2 Sarah Leigh classified HECW2 as Green List (high evidence)
Early onset or syndromic epilepsy HECW2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FAR1 Sarah Leigh classified FAR1 as Green List (high evidence)
Early onset or syndromic epilepsy HACE1 Sarah Leigh classified HACE1 as Green List (high evidence)
Early onset or syndromic epilepsy HACE1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FAR1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DHX30 Sarah Leigh classified DHX30 as Green List (high evidence)
Early onset or syndromic epilepsy DHX30 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CSNK1G1 Sarah Leigh reviewed CSNK1G1
Early onset or syndromic epilepsy CNNM2 Sarah Leigh classified CNNM2 as Green List (high evidence)
Early onset or syndromic epilepsy CNNM2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CNKSR2 Sarah Leigh classified CNKSR2 as Green List (high evidence)
Early onset or syndromic epilepsy CNKSR2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CLN8 Sarah Leigh edited their review of CLN8
Early onset or syndromic epilepsy CLN8 Sarah Leigh classified CLN8 as Green List (high evidence)
Early onset or syndromic epilepsy CLCN2 Sarah Leigh edited their review of CLCN2
Early onset or syndromic epilepsy BRAT1 Sarah Leigh edited their review of BRAT1
Early onset or syndromic epilepsy BRAT1 Sarah Leigh classified BRAT1 as Green List (high evidence)
Early onset or syndromic epilepsy BRAT1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TSC1 Sarah Leigh edited their review of TSC1
Early onset or syndromic epilepsy ALDH7A1 Sarah Leigh classified ALDH7A1 as Green List (high evidence)
Early onset or syndromic epilepsy ALDH7A1 Sarah Leigh reviewed ALDH7A1
Early onset or syndromic epilepsy CPA6 Sarah Leigh reviewed CPA6
Early onset or syndromic epilepsy CPA6 Sarah Leigh classified CPA6 as Green List (high evidence)
Early onset or syndromic epilepsy LGI1 Sarah Leigh commented on LGI1
Early onset or syndromic epilepsy LGI1 Sarah Leigh classified LGI1 as Green List (high evidence)
Early onset or syndromic epilepsy DEPDC5 Sarah Leigh classified DEPDC5 as Green List (high evidence)
Early onset or syndromic epilepsy DEPDC5 Sarah Leigh reviewed DEPDC5
Early onset or syndromic epilepsy CHRNB2 Sarah Leigh classified CHRNB2 as Green List (high evidence)
Early onset or syndromic epilepsy CHRNA4 Sarah Leigh classified CHRNA4 as Green List (high evidence)
Early onset or syndromic epilepsy CHRNA2 Sarah Leigh classified CHRNA2 as Green List (high evidence)
Early onset or syndromic epilepsy CHRNA2 Sarah Leigh commented on CHRNA2
Early onset or syndromic epilepsy EFTUD2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TBC1D24 Sarah Leigh commented on TBC1D24
Early onset or syndromic epilepsy TBC1D24 Sarah Leigh classified TBC1D24 as Green List (high evidence)
Early onset or syndromic epilepsy SCN9A Sarah Leigh classified SCN9A as Green List (high evidence)
Early onset or syndromic epilepsy SCN9A Sarah Leigh reviewed SCN9A
Early onset or syndromic epilepsy GLRA1 Ellen McDonagh reviewed GLRA1
Early onset or syndromic epilepsy GABRG2 Sarah Leigh classified GABRG2 as Green List (high evidence)
Early onset or syndromic epilepsy ADGRV1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NEDD4L Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FTL Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CPA6 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CNTN2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CLCN2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CASR Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CACNA1G Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TSC2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TPP1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TBL1XR1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TBC1D24 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ST3GAL3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SRPX2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SMS Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SLC6A8 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SLC6A5 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SCN9A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SCN2B Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SCARB2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RYR3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PRICKLE2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PRICKLE1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PPT1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PNPO Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PIGQ Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PCDH12 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NRXN1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NHLRC1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NECAP1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MT-TL1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MOCS2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MOCS1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MFSD8 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MAGI2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy LGI1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy KCTD7 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy KCNMA1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy KCNC1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy KCNA1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy HLCS Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GPHN Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GOSR2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GLRB Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GLRA1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GATM Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GATAD2B Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GAMT Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GABRG2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GABRD Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy EPM2A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy EFHC1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy EEF1A2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DEPDC5 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CTSD Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CSTB Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CSNK1G1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CRH Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy COL4A2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy COL4A1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CLN8 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CLN6 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CLN5 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CLN3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CHRNB2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CHRNA4 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CHRNA2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CCDC88C Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CBL Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CASK Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CACNB4 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CACNA1H Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CACNA1A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy BTD Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ATP1A2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy AP3B2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ALDH7A1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ABAT Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TSC1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy HAX1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ATP6AP2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ZEB2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy WWOX Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy WDR45B Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy WDR45 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy UBE3A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy UBE2A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TRPM6 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TRAK1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TCF4 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SZT2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SYNJ1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SYNGAP1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SUOX Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy STXBP1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy STX1B Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SPTAN1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SLC9A6 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SLC6A19 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SLC6A1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SLC35A2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SLC2A1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SLC25A22 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SLC25A1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SLC1A2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SLC16A2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SLC13A5 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SLC12A5 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SIK1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SETD5 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SCN8A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SCN2A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SCN1B Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SCN1A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RANBP2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy QARS Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PURA Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PRRT2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PRODH Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy POLG Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PNKP Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PLCB1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PIGT Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PIGA Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PCDH19 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NACC1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MTOR Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MOGS Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MFF Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MEF2C Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MECP2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MDH2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MBD5 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MAPK10 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy KCNT1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy KCNQ3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy KCNQ2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy KCNJ10 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy KCNB1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy KCNA2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ITPA Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy IQSEC2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy IER3IP1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy IDH2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy HTRA2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy HNRNPU Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy HNRNPH2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy HMGCL Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy HCN1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GSS Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GRIN2B Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GRIN2A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GRIN1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GPAA1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GNAO1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GLYCTK Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GABRB3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GABRA1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GABBR2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FOXG1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy EPG5 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy EML1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy EHMT1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DYRK1A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DPYD Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DOCK7 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DNM1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DIAPH1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CYFIP2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CNTNAP2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CLTC Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CIC Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CHD2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CDKL5 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CACNA1D Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy BSCL2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ATRX Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ATP6V0A2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ATP1A3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ARX Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ARHGEF9 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ALG13 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ALG11 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ADSL Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PLPBP Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NEXMIF Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy KIF1BP Sarah Leigh Added gene to panel