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Genetic Epilepsy v2.7 DOP1A Zornitza Stark Marked gene: DOP1A as ready
Genetic Epilepsy v2.7 DOP1A Zornitza Stark Gene: dop1a has been classified as Green List (High Evidence).
Genetic Epilepsy v2.7 Zornitza Stark Copied gene DOP1A from panel Mendeliome
Genetic Epilepsy v2.7 DOP1A Zornitza Stark gene: DOP1A was added
gene: DOP1A was added to Genetic Epilepsy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: DOP1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DOP1A were set to 42164854; 38818041
Phenotypes for gene: DOP1A were set to Neurodevelopmental disorder, MONDO:0700092, DOP1A-related
Genetic Epilepsy v2.6 MAGED1 Sarah Milton Classified gene: MAGED1 as Amber List (moderate evidence)
Genetic Epilepsy v2.6 MAGED1 Sarah Milton Gene: maged1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v2.5 MAGED1 Sarah Milton gene: MAGED1 was added
gene: MAGED1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MAGED1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: MAGED1 were set to 42162770
Phenotypes for gene: MAGED1 were set to Neurodevelopmental disorder, MONDO:0700092, MAGED1-related
Review for gene: MAGED1 was set to AMBER
Added comment: MAGED1 encodes Melanoma-Associated Antigen D1. It is expressed in the developing brain and is involved in controlling cell cycle progression and neuronal apoptosis.

PMID 42162770 reports two unrelated male probands with de novo variants in MAGED1 presenting with epileptic spasms and severe intellectual disability.
One frameshift and one missense variant we observed.
It should be noted the missense variant was present in gnomAD v4 with 3 heterozygotes.

Functional studies were performed demonstrating altered protein interactions and changes to cell cycle progression.
Proposed mechanism of disease (GOF vs LOF) remains unclear.
Sources: Literature
Genetic Epilepsy v1.437 Sarah Milton Copied gene MAGED1 from panel Mendeliome
Genetic Epilepsy v1.437 MAGED1 Sarah Milton gene: MAGED1 was added
gene: MAGED1 was added to Genetic Epilepsy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: MAGED1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: MAGED1 were set to 42162770
Phenotypes for gene: MAGED1 were set to Neurodevelopmental disorder, MONDO:0700092, MAGED1-related
Genetic Epilepsy v2.4 DSCAM chirag patel Classified gene: DSCAM as Green List (high evidence)
Genetic Epilepsy v2.4 DSCAM chirag patel Gene: dscam has been classified as Green List (High Evidence).
Genetic Epilepsy v2.3 DSCAM chirag patel Marked gene: DSCAM as ready
Genetic Epilepsy v2.3 DSCAM chirag patel Gene: dscam has been classified as Red List (Low Evidence).
Genetic Epilepsy v2.3 DSCAM chirag patel gene: DSCAM was added
gene: DSCAM was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: DSCAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSCAM were set to 42063257; 28600779; 33170561
Phenotypes for gene: DSCAM were set to Neurodevelopmental disorder (MONDO:0700092), DSCAM-related
Review for gene: DSCAM was set to GREEN
Added comment: AR syndromic disorder characterised by moderate-severe neurodevelopmental delay, focal seizures, short stature, poor vision, nystagmus, and retinal dysfunction (6 individuals from 4 families).

PMID 42063257 - 4 new individuals from 3 unrelated families (one individual is sibling of case reported ion PMID 28600779), presenting with developmental delay (mod-severe), intellectual disability (mod-severe), early‑onset focal seizures, short stature (range -2 to -3.9SD), poor vision, congenital nystagmus and retinal dysfunction. WES/WGS identified biallelic LOF variants in DSCAM (nonsense, frameshift, exon duplications, splice). Heterozygote parents of individuals did not have any neurodevelopmental or ocular issues. DSCAM has low biological tolerance for both LoF and missense variation. Previous mouse and chicken DSCAM knock‑out models recapitulate the retinal phenotype (no allele‑specific rescue).

PMID 28600779 - 1 individual from consanguineous Saudi family with developmental delay, intellectual disability, short stature (-3.5SD), seizures, poor vision, nystagmus and retinal dysfunction. WES identified a homozygous splice site variant (c.4132+2T>A). Parental phenotype not provided.

PMID 33170561 - 1 individual from consanguineous family with global developmental delay, normal stature (-1SD), poor vision, nystagmus and retinopathy. WGS identified a homozygous 1.14Mb deletion at 21q22.2 removing DSCAM and 3 other genes.
Sources: Literature
Genetic Epilepsy v1.436 chirag patel Copied gene DSCAM from panel Mendeliome
Genetic Epilepsy v1.436 DSCAM chirag patel gene: DSCAM was added
gene: DSCAM was added to Genetic Epilepsy. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DSCAM was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: DSCAM were set to 42063257; 28600779; 33170561; 34253863; 32807774; 21904980; 28191889; 27824329; 30095639; 23671607
Phenotypes for gene: DSCAM were set to Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260
Genetic Epilepsy v2.2 FGFR1 Zornitza Stark Mode of inheritance for gene: FGFR1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v2.1 FGFR1 Zornitza Stark reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v2.1 SNX27 Zornitza Stark Phenotypes for gene: SNX27 were changed from Neurodevelopmental disorder MONDO:0700092, SNX27-related to Damseh-Danson neurodevelopmental disorder, MIM# 621591
Genetic Epilepsy v2.0 SNX27 Zornitza Stark edited their review of gene: SNX27: Changed phenotypes: Damseh-Danson neurodevelopmental disorder, MIM# 621591
Genetic Epilepsy v2.0 ISCA-46290-Gain Region ISCA-46290-Gain migrated (gene set migration)
Genetic Epilepsy v2.0 ISCA-37493-Loss Region ISCA-37493-Loss migrated (gene set migration)
Genetic Epilepsy v2.0 ISCA-37478-Gain Region ISCA-37478-Gain migrated (gene set migration)
Genetic Epilepsy v2.0 ISCA-37446-Loss Region ISCA-37446-Loss migrated (gene set migration)
Genetic Epilepsy v2.0 ISCA-46304-Gain Region ISCA-46304-Gain: gene migrated from ENSG00000169057 to ENSG00000169057 (gene set migration)
Genetic Epilepsy v2.0 ISCA-37432-Gain Region ISCA-37432-Gain migrated (gene set migration)
Genetic Epilepsy v2.0 ISCA-37429-Loss Region ISCA-37429-Loss migrated (gene set migration)
Genetic Epilepsy v2.0 ISCA-37411-Loss Region ISCA-37411-Loss migrated (gene set migration)
Genetic Epilepsy v2.0 ISCA-37433-Loss Region ISCA-37433-Loss migrated (gene set migration)
Genetic Epilepsy v2.0 ISCA-37434-Loss Region ISCA-37434-Loss migrated (gene set migration)
Genetic Epilepsy v2.0 ISCA-37404-Loss Region ISCA-37404-Loss migrated (gene set migration)
Genetic Epilepsy v2.0 ISCA-37400-Loss Region ISCA-37400-Loss migrated (gene set migration)
Genetic Epilepsy v2.0 ISCA-46295-Loss Region ISCA-46295-Loss migrated (gene set migration)
Genetic Epilepsy v2.0 RAPGEF2_FAME7_TTTCA STR RAPGEF2_FAME7_TTTCA: gene migrated from ENSG00000109756 to ENSG00000109756 (gene set migration)
Genetic Epilepsy v2.0 ATN1_DRPLA_CAG STR ATN1_DRPLA_CAG: gene migrated from ENSG00000111676 to ENSG00000111676 (gene set migration)
Genetic Epilepsy v2.0 ARX_EIEE1_GCN2 STR ARX_EIEE1_GCN2: gene migrated from ENSG00000004848 to ENSG00000004848 (gene set migration)
Genetic Epilepsy v2.0 MARCHF6_FAME3_TTTCA STR MARCHF6_FAME3_TTTCA: gene migrated from ENSG00000145495 to ENSG00000145495 (gene set migration)
Genetic Epilepsy v2.0 ARX_EIEE1_GCN1 STR ARX_EIEE1_GCN1: gene migrated from ENSG00000004848 to ENSG00000004848 (gene set migration)
Genetic Epilepsy v2.0 SAMD12_FAME1_TTTCA STR SAMD12_FAME1_TTTCA: gene migrated from ENSG00000177570 to ENSG00000177570 (gene set migration)
Genetic Epilepsy v2.0 CSTB_EPM1_CCCCGCCCCGCG STR CSTB_EPM1_CCCCGCCCCGCG: gene migrated from ENSG00000160213 to ENSG00000160213 (gene set migration)
Genetic Epilepsy v2.0 STARD7_FAME2_ATTTC STR STARD7_FAME2_ATTTC: gene migrated from ENSG00000084090 to ENSG00000084090 (gene set migration)
Genetic Epilepsy v2.0 GLS_GDPAG_GCA STR GLS_GDPAG_GCA: gene migrated from ENSG00000115419 to ENSG00000115419 (gene set migration)
Genetic Epilepsy v2.0 STARD7 Gene migrated from ENSG00000084090 to ENSG00000084090 (gene set migration)
Genetic Epilepsy v2.0 SORCS2 Gene migrated from ENSG00000184985 to ENSG00000184985 (gene set migration)
Genetic Epilepsy v2.0 PRIMA1 Gene migrated from ENSG00000175785 to ENSG00000175785 (gene set migration)
Genetic Epilepsy v2.0 MCM3AP Gene migrated from ENSG00000160294 to ENSG00000160294 (gene set migration)
Genetic Epilepsy v2.0 CSNK1E Gene migrated from ENSG00000213923 to ENSG00000213923 (gene set migration)
Genetic Epilepsy v2.0 TAOK1 Gene migrated from ENSG00000160551 to ENSG00000160551 (gene set migration)
Genetic Epilepsy v2.0 RAPGEF2 Gene migrated from ENSG00000109756 to ENSG00000109756 (gene set migration)
Genetic Epilepsy v2.0 PIGF Gene migrated from ENSG00000151665 to ENSG00000151665 (gene set migration)
Genetic Epilepsy v2.0 KCTD13 Gene migrated from ENSG00000174943 to ENSG00000174943 (gene set migration)
Genetic Epilepsy v2.0 ALG10 Gene migrated from ENSG00000139133 to ENSG00000139133 (gene set migration)
Genetic Epilepsy v2.0 MYCBP2 Gene migrated from ENSG00000005810 to ENSG00000005810 (gene set migration)
Genetic Epilepsy v2.0 PTBP1 Gene migrated from ENSG00000011304 to ENSG00000011304 (gene set migration)
Genetic Epilepsy v2.0 KCNAB3 Gene migrated from ENSG00000170049 to ENSG00000170049 (gene set migration)
Genetic Epilepsy v2.0 CCDC22 Gene migrated from ENSG00000101997 to ENSG00000101997 (gene set migration)
Genetic Epilepsy v2.0 OCRL Gene migrated from ENSG00000122126 to ENSG00000122126 (gene set migration)
Genetic Epilepsy v2.0 CASR Gene migrated from ENSG00000036828 to ENSG00000036828 (gene set migration)
Genetic Epilepsy v2.0 SUMF1 Gene migrated from ENSG00000144455 to ENSG00000144455 (gene set migration)
Genetic Epilepsy v2.0 ITGB4 Gene migrated from ENSG00000132470 to ENSG00000132470 (gene set migration)
Genetic Epilepsy v2.0 YEATS2 Gene migrated from ENSG00000163872 to ENSG00000163872 (gene set migration)
Genetic Epilepsy v2.0 PANK2 Gene migrated from ENSG00000125779 to ENSG00000125779 (gene set migration)
Genetic Epilepsy v2.0 GBX1 Gene migrated from ENSG00000164900 to ENSG00000164900 (gene set migration)
Genetic Epilepsy v2.0 INTS8 Gene migrated from ENSG00000164941 to ENSG00000164941 (gene set migration)
Genetic Epilepsy v2.0 PLXNC1 Gene migrated from ENSG00000136040 to ENSG00000136040 (gene set migration)
Genetic Epilepsy v2.0 PRDM8 Gene migrated from ENSG00000152784 to ENSG00000152784 (gene set migration)
Genetic Epilepsy v2.0 ZIC2 Gene migrated from ENSG00000043355 to ENSG00000043355 (gene set migration)
Genetic Epilepsy v2.0 AFG3L2 Gene migrated from ENSG00000141385 to ENSG00000141385 (gene set migration)
Genetic Epilepsy v2.0 BCL11A Gene migrated from ENSG00000119866 to ENSG00000119866 (gene set migration)
Genetic Epilepsy v2.0 TNRC6A Gene migrated from ENSG00000090905 to ENSG00000090905 (gene set migration)
Genetic Epilepsy v2.0 DAB1 Gene migrated from ENSG00000173406 to ENSG00000173406 (gene set migration)
Genetic Epilepsy v2.0 KPNA7 Gene migrated from ENSG00000185467 to ENSG00000185467 (gene set migration)
Genetic Epilepsy v2.0 MDN1 Gene migrated from ENSG00000112159 to ENSG00000112159 (gene set migration)
Genetic Epilepsy v2.0 CCND2 Gene migrated from ENSG00000118971 to ENSG00000118971 (gene set migration)
Genetic Epilepsy v2.0 ATP5MC3 Gene symbol changed from ATP5G3 to ATP5MC3 during gene set migration (ENSG00000154518 -> ENSG00000154518)
Genetic Epilepsy v2.0 KCNIP4 Gene migrated from ENSG00000185774 to ENSG00000185774 (gene set migration)
Genetic Epilepsy v2.0 NDUFA6 Gene migrated from ENSG00000184983 to ENSG00000184983 (gene set migration)
Genetic Epilepsy v2.0 NDP Gene migrated from ENSG00000124479 to ENSG00000124479 (gene set migration)
Genetic Epilepsy v2.0 NDUFA11 Gene migrated from ENSG00000174886 to ENSG00000174886 (gene set migration)
Genetic Epilepsy v2.0 AUTS2 Gene migrated from ENSG00000158321 to ENSG00000158321 (gene set migration)
Genetic Epilepsy v2.0 SMARCA4 Gene migrated from ENSG00000127616 to ENSG00000127616 (gene set migration)
Genetic Epilepsy v2.0 ATG2A Gene migrated from ENSG00000110046 to ENSG00000110046 (gene set migration)
Genetic Epilepsy v2.0 SRPX2 Gene migrated from ENSG00000102359 to ENSG00000102359 (gene set migration)
Genetic Epilepsy v2.0 LMX1B Gene migrated from ENSG00000136944 to ENSG00000136944 (gene set migration)
Genetic Epilepsy v2.0 PTCH1 Gene migrated from ENSG00000185920 to ENSG00000185920 (gene set migration)
Genetic Epilepsy v2.0 TRPC3 Gene migrated from ENSG00000138741 to ENSG00000138741 (gene set migration)
Genetic Epilepsy v2.0 ADCY5 Gene migrated from ENSG00000173175 to ENSG00000173175 (gene set migration)
Genetic Epilepsy v2.0 IDH1 Gene migrated from ENSG00000138413 to ENSG00000138413 (gene set migration)
Genetic Epilepsy v2.0 BET1 Gene migrated from ENSG00000105829 to ENSG00000105829 (gene set migration)
Genetic Epilepsy v2.0 ZDHHC15 Gene migrated from ENSG00000102383 to ENSG00000102383 (gene set migration)
Genetic Epilepsy v2.0 CAMTA1 Gene migrated from ENSG00000171735 to ENSG00000171735 (gene set migration)
Genetic Epilepsy v2.0 CRH Gene migrated from ENSG00000147571 to ENSG00000147571 (gene set migration)
Genetic Epilepsy v2.0 EMX2 Gene migrated from ENSG00000170370 to ENSG00000170370 (gene set migration)
Genetic Epilepsy v2.0 CENPF Gene migrated from ENSG00000117724 to ENSG00000117724 (gene set migration)
Genetic Epilepsy v2.0 DAG1 Gene migrated from ENSG00000173402 to ENSG00000173402 (gene set migration)
Genetic Epilepsy v2.0 USP25 Gene migrated from ENSG00000155313 to ENSG00000155313 (gene set migration)
Genetic Epilepsy v2.0 KMT2B Gene migrated from ENSG00000272333 to ENSG00000272333 (gene set migration)
Genetic Epilepsy v2.0 SYNE1 Gene migrated from ENSG00000131018 to ENSG00000131018 (gene set migration)
Genetic Epilepsy v2.0 C19orf12 Gene migrated from ENSG00000131943 to ENSG00000131943 (gene set migration)
Genetic Epilepsy v2.0 CHRNA7 Gene migrated from ENSG00000175344 to ENSG00000175344 (gene set migration)
Genetic Epilepsy v2.0 EFHC1 Gene migrated from ENSG00000096093 to ENSG00000096093 (gene set migration)
Genetic Epilepsy v2.0 KCNN3 Gene migrated from ENSG00000143603 to ENSG00000143603 (gene set migration)
Genetic Epilepsy v2.0 FIG4 Gene migrated from ENSG00000112367 to ENSG00000112367 (gene set migration)
Genetic Epilepsy v2.0 SCN9A Gene migrated from ENSG00000169432 to ENSG00000169432 (gene set migration)
Genetic Epilepsy v2.0 DNAH14 Gene migrated from ENSG00000185842 to ENSG00000185842 (gene set migration)
Genetic Epilepsy v2.0 OSTC Gene migrated from ENSG00000198856 to ENSG00000198856 (gene set migration)
Genetic Epilepsy v2.0 KDM6A Gene migrated from ENSG00000147050 to ENSG00000147050 (gene set migration)
Genetic Epilepsy v2.0 SOX11 Gene migrated from ENSG00000176887 to ENSG00000176887 (gene set migration)
Genetic Epilepsy v2.0 KIFBP Gene symbol changed from KIF1BP to KIFBP during gene set migration (ENSG00000198954 -> ENSG00000198954)
Genetic Epilepsy v2.0 GABBR1 Gene migrated from ENSG00000204681 to ENSG00000204681 (gene set migration)
Genetic Epilepsy v2.0 CLCN2 Gene migrated from ENSG00000114859 to ENSG00000114859 (gene set migration)
Genetic Epilepsy v2.0 TUBA8 Gene migrated from ENSG00000183785 to ENSG00000183785 (gene set migration)
Genetic Epilepsy v2.0 GABRA6 Gene migrated from ENSG00000145863 to ENSG00000145863 (gene set migration)
Genetic Epilepsy v2.0 EXOSC8 Gene migrated from ENSG00000120699 to ENSG00000120699 (gene set migration)
Genetic Epilepsy v2.0 CHRM1 Gene migrated from ENSG00000168539 to ENSG00000168539 (gene set migration)
Genetic Epilepsy v2.0 KDM5A Gene migrated from ENSG00000073614 to ENSG00000073614 (gene set migration)
Genetic Epilepsy v2.0 CSMD2 Gene migrated from ENSG00000121904 to ENSG00000121904 (gene set migration)
Genetic Epilepsy v2.0 ODC1 Gene migrated from ENSG00000115758 to ENSG00000115758 (gene set migration)
Genetic Epilepsy v2.0 EED Gene migrated from ENSG00000074266 to ENSG00000074266 (gene set migration)
Genetic Epilepsy v2.0 RAB11A Gene migrated from ENSG00000103769 to ENSG00000103769 (gene set migration)
Genetic Epilepsy v2.0 MAGI2 Gene migrated from ENSG00000187391 to ENSG00000187391 (gene set migration)
Genetic Epilepsy v2.0 SLC7A6OS Gene migrated from ENSG00000103061 to ENSG00000103061 (gene set migration)
Genetic Epilepsy v2.0 TGIF1 Gene migrated from ENSG00000177426 to ENSG00000177426 (gene set migration)
Genetic Epilepsy v2.0 JARID2 Gene migrated from ENSG00000008083 to ENSG00000008083 (gene set migration)
Genetic Epilepsy v2.0 CLASP1 Gene migrated from ENSG00000074054 to ENSG00000074054 (gene set migration)
Genetic Epilepsy v2.0 CPA6 Gene migrated from ENSG00000165078 to ENSG00000165078 (gene set migration)
Genetic Epilepsy v2.0 ADRA2B Gene migrated from ENSG00000274286 to ENSG00000274286 (gene set migration)
Genetic Epilepsy v2.0 TBC1D7 Gene migrated from ENSG00000145979 to ENSG00000145979 (gene set migration)
Genetic Epilepsy v2.0 SV2B Gene migrated from ENSG00000185518 to ENSG00000185518 (gene set migration)
Genetic Epilepsy v2.0 WASHC4 Gene migrated from ENSG00000136051 to ENSG00000136051 (gene set migration)
Genetic Epilepsy v2.0 TSEN34 Gene migrated from ENSG00000170892 to ENSG00000170892 (gene set migration)
Genetic Epilepsy v2.0 GUF1 Gene migrated from ENSG00000151806 to ENSG00000151806 (gene set migration)
Genetic Epilepsy v2.0 AGO3 Gene migrated from ENSG00000126070 to ENSG00000126070 (gene set migration)
Genetic Epilepsy v2.0 SLC22A5 Gene migrated from ENSG00000197375 to ENSG00000197375 (gene set migration)
Genetic Epilepsy v2.0 ALX4 Gene migrated from ENSG00000052850 to ENSG00000052850 (gene set migration)
Genetic Epilepsy v2.0 CAMLG Gene migrated from ENSG00000164615 to ENSG00000164615 (gene set migration)
Genetic Epilepsy v2.0 NAT8L Gene migrated from ENSG00000185818 to ENSG00000185818 (gene set migration)
Genetic Epilepsy v2.0 AFDN Gene migrated from ENSG00000130396 to ENSG00000130396 (gene set migration)
Genetic Epilepsy v2.0 WDFY3 Gene migrated from ENSG00000163625 to ENSG00000163625 (gene set migration)
Genetic Epilepsy v2.0 GAL Gene migrated from ENSG00000069482 to ENSG00000069482 (gene set migration)
Genetic Epilepsy v2.0 SLC4A4 Gene migrated from ENSG00000080493 to ENSG00000080493 (gene set migration)
Genetic Epilepsy v2.0 ALG12 Gene migrated from ENSG00000182858 to ENSG00000182858 (gene set migration)
Genetic Epilepsy v2.0 KCNA4 Gene migrated from ENSG00000182255 to ENSG00000182255 (gene set migration)
Genetic Epilepsy v2.0 IBA57 Gene migrated from ENSG00000181873 to ENSG00000181873 (gene set migration)
Genetic Epilepsy v2.0 PCLO Gene migrated from ENSG00000186472 to ENSG00000186472 (gene set migration)
Genetic Epilepsy v2.0 IARS2 Gene migrated from ENSG00000067704 to ENSG00000067704 (gene set migration)
Genetic Epilepsy v2.0 UNC13B Gene migrated from ENSG00000198722 to ENSG00000198722 (gene set migration)
Genetic Epilepsy v2.0 TRAPPC2L Gene migrated from ENSG00000167515 to ENSG00000167515 (gene set migration)
Genetic Epilepsy v2.0 GABRG1 Gene migrated from ENSG00000163285 to ENSG00000163285 (gene set migration)
Genetic Epilepsy v2.0 HCN4 Gene migrated from ENSG00000138622 to ENSG00000138622 (gene set migration)
Genetic Epilepsy v2.0 SEC24C Gene migrated from ENSG00000176986 to ENSG00000176986 (gene set migration)
Genetic Epilepsy v2.0 SMARCE1 Gene migrated from ENSG00000073584 to ENSG00000073584 (gene set migration)
Genetic Epilepsy v2.0 RXYLT1 Gene symbol changed from TMEM5 to RXYLT1 during gene set migration (ENSG00000118600 -> ENSG00000118600)
Genetic Epilepsy v2.0 OGT Gene migrated from ENSG00000147162 to ENSG00000147162 (gene set migration)
Genetic Epilepsy v2.0 CCM2 Gene migrated from ENSG00000136280 to ENSG00000136280 (gene set migration)
Genetic Epilepsy v2.0 NOL10 Gene migrated from ENSG00000115761 to ENSG00000115761 (gene set migration)
Genetic Epilepsy v2.0 PRICKLE1 Gene migrated from ENSG00000139174 to ENSG00000139174 (gene set migration)
Genetic Epilepsy v2.0 NDUFA10 Gene migrated from ENSG00000130414 to ENSG00000130414 (gene set migration)
Genetic Epilepsy v2.0 MMS19 Gene migrated from ENSG00000155229 to ENSG00000155229 (gene set migration)
Genetic Epilepsy v2.0 STAT3 Gene migrated from ENSG00000168610 to ENSG00000168610 (gene set migration)
Genetic Epilepsy v2.0 OTUD5 Gene migrated from ENSG00000068308 to ENSG00000068308 (gene set migration)
Genetic Epilepsy v2.0 SLC45A1 Gene migrated from ENSG00000162426 to ENSG00000162426 (gene set migration)
Genetic Epilepsy v2.0 FAR1 Gene migrated from ENSG00000197601 to ENSG00000197601 (gene set migration)
Genetic Epilepsy v2.0 GMPPA Gene migrated from ENSG00000144591 to ENSG00000144591 (gene set migration)
Genetic Epilepsy v2.0 PDSS2 Gene migrated from ENSG00000164494 to ENSG00000164494 (gene set migration)
Genetic Epilepsy v2.0 DPM2 Gene migrated from ENSG00000136908 to ENSG00000136908 (gene set migration)
Genetic Epilepsy v2.0 CCT6A Gene migrated from ENSG00000146731 to ENSG00000146731 (gene set migration)
Genetic Epilepsy v2.0 LARGE1 Gene migrated from ENSG00000133424 to ENSG00000133424 (gene set migration)
Genetic Epilepsy v2.0 CACNB4 Gene migrated from ENSG00000182389 to ENSG00000182389 (gene set migration)
Genetic Epilepsy v2.0 COX10 Gene migrated from ENSG00000006695 to ENSG00000006695 (gene set migration)
Genetic Epilepsy v2.0 OTX2 Gene migrated from ENSG00000165588 to ENSG00000165588 (gene set migration)
Genetic Epilepsy v2.0 NDUFV2 Gene migrated from ENSG00000178127 to ENSG00000178127 (gene set migration)
Genetic Epilepsy v2.0 COX15 Gene migrated from ENSG00000014919 to ENSG00000014919 (gene set migration)
Genetic Epilepsy v2.0 NUBPL Gene migrated from ENSG00000151413 to ENSG00000151413 (gene set migration)
Genetic Epilepsy v2.0 COQ6 Gene migrated from ENSG00000119723 to ENSG00000119723 (gene set migration)
Genetic Epilepsy v2.0 COG8 Gene migrated from ENSG00000213380 to ENSG00000213380 (gene set migration)
Genetic Epilepsy v2.0 FOXJ3 Gene migrated from ENSG00000198815 to ENSG00000198815 (gene set migration)
Genetic Epilepsy v2.0 COG6 Gene migrated from ENSG00000133103 to ENSG00000133103 (gene set migration)
Genetic Epilepsy v2.0 COG4 Gene migrated from ENSG00000103051 to ENSG00000103051 (gene set migration)
Genetic Epilepsy v2.0 AARS2 Gene migrated from ENSG00000124608 to ENSG00000124608 (gene set migration)
Genetic Epilepsy v2.0 ABI2 Gene migrated from ENSG00000138443 to ENSG00000138443 (gene set migration)
Genetic Epilepsy v2.0 ST3GAL3 Gene migrated from ENSG00000126091 to ENSG00000126091 (gene set migration)
Genetic Epilepsy v2.0 PPP1CB Gene migrated from ENSG00000213639 to ENSG00000213639 (gene set migration)
Genetic Epilepsy v2.0 DHFR Gene migrated from ENSG00000228716 to ENSG00000228716 (gene set migration)
Genetic Epilepsy v2.0 SLC35A3 Gene migrated from ENSG00000117620 to ENSG00000117620 (gene set migration)
Genetic Epilepsy v2.0 SLC35A1 Gene migrated from ENSG00000164414 to ENSG00000164414 (gene set migration)
Genetic Epilepsy v2.0 NDUFS7 Gene migrated from ENSG00000115286 to ENSG00000115286 (gene set migration)
Genetic Epilepsy v2.0 NDUFS6 Gene migrated from ENSG00000145494 to ENSG00000145494 (gene set migration)
Genetic Epilepsy v2.0 NDUFS1 Gene migrated from ENSG00000023228 to ENSG00000023228 (gene set migration)
Genetic Epilepsy v2.0 ADAT3 Gene migrated from ENSG00000213638 to ENSG00000213638 (gene set migration)
Genetic Epilepsy v2.0 PAK3 Gene migrated from ENSG00000077264 to ENSG00000077264 (gene set migration)
Genetic Epilepsy v2.0 VLDLR Gene migrated from ENSG00000147852 to ENSG00000147852 (gene set migration)
Genetic Epilepsy v2.0 NDUFA2 Gene migrated from ENSG00000131495 to ENSG00000131495 (gene set migration)
Genetic Epilepsy v2.0 AP3D1 Gene migrated from ENSG00000065000 to ENSG00000065000 (gene set migration)
Genetic Epilepsy v2.0 NF1 Gene migrated from ENSG00000196712 to ENSG00000196712 (gene set migration)
Genetic Epilepsy v2.0 RUSC2 Gene migrated from ENSG00000198853 to ENSG00000198853 (gene set migration)
Genetic Epilepsy v2.0 SPEN Gene migrated from ENSG00000065526 to ENSG00000065526 (gene set migration)
Genetic Epilepsy v2.0 UBTF Gene migrated from ENSG00000108312 to ENSG00000108312 (gene set migration)
Genetic Epilepsy v2.0 TAF1C Gene migrated from ENSG00000103168 to ENSG00000103168 (gene set migration)
Genetic Epilepsy v2.0 TMEM106B Gene migrated from ENSG00000106460 to ENSG00000106460 (gene set migration)
Genetic Epilepsy v2.0 ATP5F1A Gene symbol changed from ATP5A1 to ATP5F1A during gene set migration (ENSG00000152234 -> ENSG00000152234)
Genetic Epilepsy v2.0 DTYMK Gene migrated from ENSG00000168393 to ENSG00000168393 (gene set migration)
Genetic Epilepsy v2.0 HNRNPK Gene migrated from ENSG00000165119 to ENSG00000165119 (gene set migration)
Genetic Epilepsy v2.0 PPP2R2B Gene migrated from ENSG00000156475 to ENSG00000156475 (gene set migration)
Genetic Epilepsy v2.0 NDUFAF8 Gene migrated from ENSG00000224877 to ENSG00000224877 (gene set migration)
Genetic Epilepsy v2.0 THG1L Gene migrated from ENSG00000113272 to ENSG00000113272 (gene set migration)
Genetic Epilepsy v2.0 SV2A Gene migrated from ENSG00000159164 to ENSG00000159164 (gene set migration)
Genetic Epilepsy v2.0 SNIP1 Gene migrated from ENSG00000163877 to ENSG00000163877 (gene set migration)
Genetic Epilepsy v2.0 MDH1 Gene migrated from ENSG00000014641 to ENSG00000014641 (gene set migration)
Genetic Epilepsy v2.0 HDAC8 Gene migrated from ENSG00000147099 to ENSG00000147099 (gene set migration)
Genetic Epilepsy v2.0 SLC20A2 Gene migrated from ENSG00000168575 to ENSG00000168575 (gene set migration)
Genetic Epilepsy v2.0 COLGALT1 Gene migrated from ENSG00000130309 to ENSG00000130309 (gene set migration)
Genetic Epilepsy v2.0 AQP4 Gene migrated from ENSG00000171885 to ENSG00000171885 (gene set migration)
Genetic Epilepsy v2.0 CUL3 Gene migrated from ENSG00000036257 to ENSG00000036257 (gene set migration)
Genetic Epilepsy v2.0 KIF4A Gene migrated from ENSG00000090889 to ENSG00000090889 (gene set migration)
Genetic Epilepsy v2.0 NECAP1 Gene migrated from ENSG00000089818 to ENSG00000089818 (gene set migration)
Genetic Epilepsy v2.0 FAM50A Gene migrated from ENSG00000071859 to ENSG00000071859 (gene set migration)
Genetic Epilepsy v2.0 SUCLG1 Gene migrated from ENSG00000163541 to ENSG00000163541 (gene set migration)
Genetic Epilepsy v2.0 TSEN15 Gene migrated from ENSG00000198860 to ENSG00000198860 (gene set migration)
Genetic Epilepsy v2.0 ABHD16A Gene migrated from ENSG00000204427 to ENSG00000204427 (gene set migration)
Genetic Epilepsy v2.0 ADGRL1 Gene migrated from ENSG00000072071 to ENSG00000072071 (gene set migration)
Genetic Epilepsy v2.0 GPSM2 Gene migrated from ENSG00000121957 to ENSG00000121957 (gene set migration)
Genetic Epilepsy v2.0 RBL2 Gene migrated from ENSG00000103479 to ENSG00000103479 (gene set migration)
Genetic Epilepsy v2.0 MAPK8IP3 Gene migrated from ENSG00000138834 to ENSG00000138834 (gene set migration)
Genetic Epilepsy v2.0 DROSHA Gene migrated from ENSG00000113360 to ENSG00000113360 (gene set migration)
Genetic Epilepsy v2.0 PRICKLE2 Gene migrated from ENSG00000163637 to ENSG00000163637 (gene set migration)
Genetic Epilepsy v2.0 SIX3 Gene migrated from ENSG00000138083 to ENSG00000138083 (gene set migration)
Genetic Epilepsy v2.0 TRIP12 Gene migrated from ENSG00000153827 to ENSG00000153827 (gene set migration)
Genetic Epilepsy v2.0 ZMIZ1 Gene migrated from ENSG00000108175 to ENSG00000108175 (gene set migration)
Genetic Epilepsy v2.0 TCEAL1 Gene migrated from ENSG00000172465 to ENSG00000172465 (gene set migration)
Genetic Epilepsy v2.0 OFD1 Gene migrated from ENSG00000046651 to ENSG00000046651 (gene set migration)
Genetic Epilepsy v2.0 SACS Gene migrated from ENSG00000151835 to ENSG00000151835 (gene set migration)
Genetic Epilepsy v2.0 PIK3C2B Gene migrated from ENSG00000133056 to ENSG00000133056 (gene set migration)
Genetic Epilepsy v2.0 CACNA2D1 Gene migrated from ENSG00000153956 to ENSG00000153956 (gene set migration)
Genetic Epilepsy v2.0 SDHA Gene migrated from ENSG00000073578 to ENSG00000073578 (gene set migration)
Genetic Epilepsy v2.0 XPR1 Gene migrated from ENSG00000143324 to ENSG00000143324 (gene set migration)
Genetic Epilepsy v2.0 NAGA Gene migrated from ENSG00000198951 to ENSG00000198951 (gene set migration)
Genetic Epilepsy v2.0 RALGAPB Gene migrated from ENSG00000170471 to ENSG00000170471 (gene set migration)
Genetic Epilepsy v2.0 RYR3 Gene migrated from ENSG00000198838 to ENSG00000198838 (gene set migration)
Genetic Epilepsy v2.0 STARD9 Gene migrated from ENSG00000159433 to ENSG00000159433 (gene set migration)
Genetic Epilepsy v2.0 DARS2 Gene migrated from ENSG00000117593 to ENSG00000117593 (gene set migration)
Genetic Epilepsy v2.0 MT-TC Gene migrated from ENSG00000210140 to ENSG00000210140 (gene set migration)
Genetic Epilepsy v2.0 SCO1 Gene migrated from ENSG00000133028 to ENSG00000133028 (gene set migration)
Genetic Epilepsy v2.0 RAB3GAP1 Gene migrated from ENSG00000115839 to ENSG00000115839 (gene set migration)
Genetic Epilepsy v2.0 TRIP13 Gene migrated from ENSG00000071539 to ENSG00000071539 (gene set migration)
Genetic Epilepsy v2.0 COG3 Gene migrated from ENSG00000136152 to ENSG00000136152 (gene set migration)
Genetic Epilepsy v2.0 JAKMIP1 Gene migrated from ENSG00000152969 to ENSG00000152969 (gene set migration)
Genetic Epilepsy v2.0 PRODH Gene migrated from ENSG00000100033 to ENSG00000100033 (gene set migration)
Genetic Epilepsy v2.0 LMNB1 Gene migrated from ENSG00000113368 to ENSG00000113368 (gene set migration)
Genetic Epilepsy v2.0 DENR Gene migrated from ENSG00000139726 to ENSG00000139726 (gene set migration)
Genetic Epilepsy v2.0 HEATR5B Gene migrated from ENSG00000008869 to ENSG00000008869 (gene set migration)
Genetic Epilepsy v2.0 WDTC1 Gene migrated from ENSG00000142784 to ENSG00000142784 (gene set migration)
Genetic Epilepsy v2.0 CAMK2D Gene migrated from ENSG00000145349 to ENSG00000145349 (gene set migration)
Genetic Epilepsy v2.0 CDC42BPB Gene migrated from ENSG00000198752 to ENSG00000198752 (gene set migration)
Genetic Epilepsy v2.0 PGAP2 Gene migrated from ENSG00000148985 to ENSG00000148985 (gene set migration)
Genetic Epilepsy v2.0 GATAD2B Gene migrated from ENSG00000143614 to ENSG00000143614 (gene set migration)
Genetic Epilepsy v2.0 DNAJC6 Gene migrated from ENSG00000116675 to ENSG00000116675 (gene set migration)
Genetic Epilepsy v2.0 RPIA Gene migrated from ENSG00000153574 to ENSG00000153574 (gene set migration)
Genetic Epilepsy v2.0 POMGNT2 Gene migrated from ENSG00000144647 to ENSG00000144647 (gene set migration)
Genetic Epilepsy v2.0 PTF1A Gene migrated from ENSG00000168267 to ENSG00000168267 (gene set migration)
Genetic Epilepsy v2.0 TNK2 Gene migrated from ENSG00000061938 to ENSG00000061938 (gene set migration)
Genetic Epilepsy v2.0 TMEM70 Gene migrated from ENSG00000175606 to ENSG00000175606 (gene set migration)
Genetic Epilepsy v2.0 TBC1D20 Gene migrated from ENSG00000125875 to ENSG00000125875 (gene set migration)
Genetic Epilepsy v2.0 BICD2 Gene migrated from ENSG00000185963 to ENSG00000185963 (gene set migration)
Genetic Epilepsy v2.0 B4GAT1 Gene migrated from ENSG00000174684 to ENSG00000174684 (gene set migration)
Genetic Epilepsy v2.0 RBFOX3 Gene migrated from ENSG00000167281 to ENSG00000167281 (gene set migration)
Genetic Epilepsy v2.0 RAB3GAP2 Gene migrated from ENSG00000118873 to ENSG00000118873 (gene set migration)
Genetic Epilepsy v2.0 MICAL1 Gene migrated from ENSG00000135596 to ENSG00000135596 (gene set migration)
Genetic Epilepsy v2.0 NDUFS2 Gene migrated from ENSG00000158864 to ENSG00000158864 (gene set migration)
Genetic Epilepsy v2.0 SYNCRIP Gene migrated from ENSG00000135316 to ENSG00000135316 (gene set migration)
Genetic Epilepsy v2.0 TLK2 Gene migrated from ENSG00000146872 to ENSG00000146872 (gene set migration)
Genetic Epilepsy v2.0 PSPH Gene migrated from ENSG00000146733 to ENSG00000146733 (gene set migration)
Genetic Epilepsy v2.0 LYST Gene migrated from ENSG00000143669 to ENSG00000143669 (gene set migration)
Genetic Epilepsy v2.0 NDUFAF3 Gene migrated from ENSG00000178057 to ENSG00000178057 (gene set migration)
Genetic Epilepsy v2.0 PSAT1 Gene migrated from ENSG00000135069 to ENSG00000135069 (gene set migration)
Genetic Epilepsy v2.0 ATP5F1E Gene symbol changed from ATP5E to ATP5F1E during gene set migration (ENSG00000124172 -> ENSG00000124172)
Genetic Epilepsy v2.0 HPRT1 Gene migrated from ENSG00000165704 to ENSG00000165704 (gene set migration)
Genetic Epilepsy v2.0 HOXA1 Gene migrated from ENSG00000105991 to ENSG00000105991 (gene set migration)
Genetic Epilepsy v2.0 MANBA Gene migrated from ENSG00000109323 to ENSG00000109323 (gene set migration)
Genetic Epilepsy v2.0 HCCS Gene migrated from ENSG00000004961 to ENSG00000004961 (gene set migration)
Genetic Epilepsy v2.0 PPP1R3F Gene migrated from ENSG00000049769 to ENSG00000049769 (gene set migration)
Genetic Epilepsy v2.0 SCN10A Gene migrated from ENSG00000185313 to ENSG00000185313 (gene set migration)
Genetic Epilepsy v2.0 POMT2 Gene migrated from ENSG00000009830 to ENSG00000009830 (gene set migration)
Genetic Epilepsy v2.0 KCNB2 Gene migrated from ENSG00000182674 to ENSG00000182674 (gene set migration)
Genetic Epilepsy v2.0 FKRP Gene migrated from ENSG00000181027 to ENSG00000181027 (gene set migration)
Genetic Epilepsy v2.0 NDUFAF4 Gene migrated from ENSG00000123545 to ENSG00000123545 (gene set migration)
Genetic Epilepsy v2.0 NDUFA8 Gene migrated from ENSG00000119421 to ENSG00000119421 (gene set migration)
Genetic Epilepsy v2.0 POU3F3 Gene migrated from ENSG00000198914 to ENSG00000198914 (gene set migration)
Genetic Epilepsy v2.0 THOC2 Gene migrated from ENSG00000125676 to ENSG00000125676 (gene set migration)
Genetic Epilepsy v2.0 LMNB2 Gene migrated from ENSG00000176619 to ENSG00000176619 (gene set migration)
Genetic Epilepsy v2.0 DHRS9 Gene migrated from ENSG00000073737 to ENSG00000073737 (gene set migration)
Genetic Epilepsy v2.0 PIGU Gene migrated from ENSG00000101464 to ENSG00000101464 (gene set migration)
Genetic Epilepsy v2.0 POMK Gene migrated from ENSG00000185900 to ENSG00000185900 (gene set migration)
Genetic Epilepsy v2.0 PGM3 Gene migrated from ENSG00000013375 to ENSG00000013375 (gene set migration)
Genetic Epilepsy v2.0 PAX6 Gene migrated from ENSG00000007372 to ENSG00000007372 (gene set migration)
Genetic Epilepsy v2.0 CP Gene migrated from ENSG00000047457 to ENSG00000047457 (gene set migration)
Genetic Epilepsy v2.0 PAK2 Gene migrated from ENSG00000180370 to ENSG00000180370 (gene set migration)
Genetic Epilepsy v2.0 JMJD1C Gene migrated from ENSG00000171988 to ENSG00000171988 (gene set migration)
Genetic Epilepsy v2.0 ADAM23 Gene migrated from ENSG00000114948 to ENSG00000114948 (gene set migration)
Genetic Epilepsy v2.0 POLR1A Gene migrated from ENSG00000068654 to ENSG00000068654 (gene set migration)
Genetic Epilepsy v2.0 GATM Gene migrated from ENSG00000171766 to ENSG00000171766 (gene set migration)
Genetic Epilepsy v2.0 FRA10AC1 Gene migrated from ENSG00000148690 to ENSG00000148690 (gene set migration)
Genetic Epilepsy v2.0 SRD5A3 Gene migrated from ENSG00000128039 to ENSG00000128039 (gene set migration)
Genetic Epilepsy v2.0 DALRD3 Gene migrated from ENSG00000178149 to ENSG00000178149 (gene set migration)
Genetic Epilepsy v2.0 MTNAP1 Gene symbol changed from C17orf80 to MTNAP1 during gene set migration (ENSG00000141219 -> ENSG00000141219)
Genetic Epilepsy v2.0 CSNK1A1 Gene migrated from ENSG00000113712 to ENSG00000113712 (gene set migration)
Genetic Epilepsy v2.0 KCNJ3 Gene migrated from ENSG00000162989 to ENSG00000162989 (gene set migration)
Genetic Epilepsy v2.0 MT-ATP8 Gene migrated from ENSG00000228253 to ENSG00000228253 (gene set migration)
Genetic Epilepsy v2.0 POLG2 Gene migrated from ENSG00000256525 to ENSG00000256525 (gene set migration)
Genetic Epilepsy v2.0 TBL1XR1 Gene migrated from ENSG00000177565 to ENSG00000177565 (gene set migration)
Genetic Epilepsy v2.0 WASF1 Gene migrated from ENSG00000112290 to ENSG00000112290 (gene set migration)
Genetic Epilepsy v2.0 COL18A1 Gene migrated from ENSG00000182871 to ENSG00000182871 (gene set migration)
Genetic Epilepsy v2.0 CNTNAP2 Gene migrated from ENSG00000174469 to ENSG00000174469 (gene set migration)
Genetic Epilepsy v2.0 SYNJ1 Gene migrated from ENSG00000159082 to ENSG00000159082 (gene set migration)
Genetic Epilepsy v2.0 ZBTB47 Gene migrated from ENSG00000114853 to ENSG00000114853 (gene set migration)
Genetic Epilepsy v2.0 ATRX Gene migrated from ENSG00000085224 to ENSG00000085224 (gene set migration)
Genetic Epilepsy v2.0 ATP5PO Gene symbol changed from ATP5O to ATP5PO during gene set migration (ENSG00000241837 -> ENSG00000241837)
Genetic Epilepsy v2.0 PABPC1 Gene migrated from ENSG00000070756 to ENSG00000070756 (gene set migration)
Genetic Epilepsy v2.0 CRELD1 Gene migrated from ENSG00000163703 to ENSG00000163703 (gene set migration)
Genetic Epilepsy v2.0 UBAP2L Gene migrated from ENSG00000143569 to ENSG00000143569 (gene set migration)
Genetic Epilepsy v2.0 DDC Gene migrated from ENSG00000132437 to ENSG00000132437 (gene set migration)
Genetic Epilepsy v2.0 ATP6V0C Gene migrated from ENSG00000185883 to ENSG00000185883 (gene set migration)
Genetic Epilepsy v2.0 PEX19 Gene migrated from ENSG00000162735 to ENSG00000162735 (gene set migration)
Genetic Epilepsy v2.0 PEX12 Gene migrated from ENSG00000108733 to ENSG00000108733 (gene set migration)
Genetic Epilepsy v2.0 PCDH12 Gene migrated from ENSG00000113555 to ENSG00000113555 (gene set migration)
Genetic Epilepsy v2.0 PCCA Gene migrated from ENSG00000175198 to ENSG00000175198 (gene set migration)
Genetic Epilepsy v2.0 NGLY1 Gene migrated from ENSG00000151092 to ENSG00000151092 (gene set migration)
Genetic Epilepsy v2.0 EIF4A2 Gene migrated from ENSG00000156976 to ENSG00000156976 (gene set migration)
Genetic Epilepsy v2.0 NDUFS4 Gene migrated from ENSG00000164258 to ENSG00000164258 (gene set migration)
Genetic Epilepsy v2.0 CAPRIN1 Gene migrated from ENSG00000135387 to ENSG00000135387 (gene set migration)
Genetic Epilepsy v2.0 KCND1 Gene migrated from ENSG00000102057 to ENSG00000102057 (gene set migration)
Genetic Epilepsy v2.0 SECISBP2 Gene migrated from ENSG00000187742 to ENSG00000187742 (gene set migration)
Genetic Epilepsy v2.0 TCP1 Gene migrated from ENSG00000120438 to ENSG00000120438 (gene set migration)
Genetic Epilepsy v2.0 FBXL4 Gene migrated from ENSG00000112234 to ENSG00000112234 (gene set migration)
Genetic Epilepsy v2.0 TET3 Gene migrated from ENSG00000187605 to ENSG00000187605 (gene set migration)
Genetic Epilepsy v2.0 EIF2B4 Gene migrated from ENSG00000115211 to ENSG00000115211 (gene set migration)
Genetic Epilepsy v2.0 EPB41L3 Gene migrated from ENSG00000082397 to ENSG00000082397 (gene set migration)
Genetic Epilepsy v2.0 EIF2B2 Gene migrated from ENSG00000119718 to ENSG00000119718 (gene set migration)
Genetic Epilepsy v2.0 TANC2 Gene migrated from ENSG00000170921 to ENSG00000170921 (gene set migration)
Genetic Epilepsy v2.0 KCNA3 Gene migrated from ENSG00000177272 to ENSG00000177272 (gene set migration)
Genetic Epilepsy v2.0 SON Gene migrated from ENSG00000159140 to ENSG00000159140 (gene set migration)
Genetic Epilepsy v2.0 SNAP29 Gene migrated from ENSG00000099940 to ENSG00000099940 (gene set migration)
Genetic Epilepsy v2.0 SLC19A3 Gene migrated from ENSG00000135917 to ENSG00000135917 (gene set migration)
Genetic Epilepsy v2.0 SERAC1 Gene migrated from ENSG00000122335 to ENSG00000122335 (gene set migration)
Genetic Epilepsy v2.0 NDUFAF5 Gene migrated from ENSG00000101247 to ENSG00000101247 (gene set migration)
Genetic Epilepsy v2.0 MMADHC Gene migrated from ENSG00000168288 to ENSG00000168288 (gene set migration)
Genetic Epilepsy v2.0 SP9 Gene migrated from ENSG00000217236 to ENSG00000217236 (gene set migration)
Genetic Epilepsy v2.0 MFF Gene migrated from ENSG00000168958 to ENSG00000168958 (gene set migration)
Genetic Epilepsy v2.0 MED12 Gene migrated from ENSG00000184634 to ENSG00000184634 (gene set migration)
Genetic Epilepsy v2.0 KCNJ11 Gene migrated from ENSG00000187486 to ENSG00000187486 (gene set migration)
Genetic Epilepsy v2.0 MAP2K1 Gene migrated from ENSG00000169032 to ENSG00000169032 (gene set migration)
Genetic Epilepsy v2.0 KIF1A Gene migrated from ENSG00000130294 to ENSG00000130294 (gene set migration)
Genetic Epilepsy v2.0 KRIT1 Gene migrated from ENSG00000001631 to ENSG00000001631 (gene set migration)
Genetic Epilepsy v2.0 KMT2A Gene migrated from ENSG00000118058 to ENSG00000118058 (gene set migration)
Genetic Epilepsy v2.0 IFIH1 Gene migrated from ENSG00000115267 to ENSG00000115267 (gene set migration)
Genetic Epilepsy v2.0 IDH2 Gene migrated from ENSG00000182054 to ENSG00000182054 (gene set migration)
Genetic Epilepsy v2.0 KAT6A Gene migrated from ENSG00000083168 to ENSG00000083168 (gene set migration)
Genetic Epilepsy v2.0 HSPD1 Gene migrated from ENSG00000144381 to ENSG00000144381 (gene set migration)
Genetic Epilepsy v2.0 HMGCL Gene migrated from ENSG00000117305 to ENSG00000117305 (gene set migration)
Genetic Epilepsy v2.0 HEPACAM Gene migrated from ENSG00000165478 to ENSG00000165478 (gene set migration)
Genetic Epilepsy v2.0 GOSR2 Gene migrated from ENSG00000108433 to ENSG00000108433 (gene set migration)
Genetic Epilepsy v2.0 GNAQ Gene migrated from ENSG00000156052 to ENSG00000156052 (gene set migration)
Genetic Epilepsy v2.0 GLUL Gene migrated from ENSG00000135821 to ENSG00000135821 (gene set migration)
Genetic Epilepsy v2.0 GLUD1 Gene migrated from ENSG00000148672 to ENSG00000148672 (gene set migration)
Genetic Epilepsy v2.0 GLB1 Gene migrated from ENSG00000170266 to ENSG00000170266 (gene set migration)
Genetic Epilepsy v2.0 FUCA1 Gene migrated from ENSG00000179163 to ENSG00000179163 (gene set migration)
Genetic Epilepsy v2.0 ANK2 Gene migrated from ENSG00000145362 to ENSG00000145362 (gene set migration)
Genetic Epilepsy v2.0 ATP6V0A1 Gene migrated from ENSG00000033627 to ENSG00000033627 (gene set migration)
Genetic Epilepsy v2.0 U2AF2 Gene migrated from ENSG00000063244 to ENSG00000063244 (gene set migration)
Genetic Epilepsy v2.0 WDR47 Gene migrated from ENSG00000085433 to ENSG00000085433 (gene set migration)
Genetic Epilepsy v2.0 TRPM7 Gene migrated from ENSG00000092439 to ENSG00000092439 (gene set migration)
Genetic Epilepsy v2.0 COQ4 Gene migrated from ENSG00000167113 to ENSG00000167113 (gene set migration)
Genetic Epilepsy v2.0 EIF2AK2 Gene migrated from ENSG00000055332 to ENSG00000055332 (gene set migration)
Genetic Epilepsy v2.0 ECM1 Gene migrated from ENSG00000143369 to ENSG00000143369 (gene set migration)
Genetic Epilepsy v2.0 PPP2R5D Gene migrated from ENSG00000112640 to ENSG00000112640 (gene set migration)
Genetic Epilepsy v2.0 TSPYL1 Gene migrated from ENSG00000189241 to ENSG00000189241 (gene set migration)
Genetic Epilepsy v2.0 SUCLA2 Gene migrated from ENSG00000136143 to ENSG00000136143 (gene set migration)
Genetic Epilepsy v2.0 STAG1 Gene migrated from ENSG00000118007 to ENSG00000118007 (gene set migration)
Genetic Epilepsy v2.0 SLC6A19 Gene migrated from ENSG00000174358 to ENSG00000174358 (gene set migration)
Genetic Epilepsy v2.0 SLC35A2 Gene migrated from ENSG00000102100 to ENSG00000102100 (gene set migration)
Genetic Epilepsy v2.0 SLC25A1 Gene migrated from ENSG00000100075 to ENSG00000100075 (gene set migration)
Genetic Epilepsy v2.0 SCO2 Gene migrated from ENSG00000130489 to ENSG00000284194 (gene set migration)
Genetic Epilepsy v2.0 SCN2A Gene migrated from ENSG00000136531 to ENSG00000136531 (gene set migration)
Genetic Epilepsy v2.0 RNU4ATAC Gene migrated from ENSG00000264229 to ENSG00000264229 (gene set migration)
Genetic Epilepsy v2.0 RNASEH2A Gene migrated from ENSG00000104889 to ENSG00000104889 (gene set migration)
Genetic Epilepsy v2.0 POMT1 Gene migrated from ENSG00000130714 to ENSG00000130714 (gene set migration)
Genetic Epilepsy v2.0 POLG Gene migrated from ENSG00000140521 to ENSG00000140521 (gene set migration)
Genetic Epilepsy v2.0 SLC31A1 Gene migrated from ENSG00000136868 to ENSG00000136868 (gene set migration)
Genetic Epilepsy v2.0 LSS Gene migrated from ENSG00000160285 to ENSG00000160285 (gene set migration)
Genetic Epilepsy v2.0 PEX26 Gene migrated from ENSG00000215193 to ENSG00000215193 (gene set migration)
Genetic Epilepsy v2.0 CCDC88C Gene migrated from ENSG00000015133 to ENSG00000015133 (gene set migration)
Genetic Epilepsy v2.0 PDE2A Gene migrated from ENSG00000186642 to ENSG00000186642 (gene set migration)
Genetic Epilepsy v2.0 PDCD10 Gene migrated from ENSG00000114209 to ENSG00000114209 (gene set migration)
Genetic Epilepsy v2.0 GRIA3 Gene migrated from ENSG00000125675 to ENSG00000125675 (gene set migration)
Genetic Epilepsy v2.0 JKAMP Gene migrated from ENSG00000050130 to ENSG00000050130 (gene set migration)
Genetic Epilepsy v2.0 MAP2K4 Gene migrated from ENSG00000065559 to ENSG00000065559 (gene set migration)
Genetic Epilepsy v2.0 GSPT2 Gene migrated from ENSG00000189369 to ENSG00000189369 (gene set migration)
Genetic Epilepsy v2.0 RNU4-2 Gene migrated from ENSG00000202538 to ENSG00000202538 (gene set migration)
Genetic Epilepsy v2.0 RPS6KC1 Gene migrated from ENSG00000136643 to ENSG00000136643 (gene set migration)
Genetic Epilepsy v2.0 SCN1A Gene migrated from ENSG00000144285 to ENSG00000144285 (gene set migration)
Genetic Epilepsy v2.0 RHEB Gene migrated from ENSG00000106615 to ENSG00000106615 (gene set migration)
Genetic Epilepsy v2.0 HCN2 Gene migrated from ENSG00000099822 to ENSG00000099822 (gene set migration)
Genetic Epilepsy v2.0 KCND2 Gene migrated from ENSG00000184408 to ENSG00000184408 (gene set migration)
Genetic Epilepsy v2.0 MT-TE Gene migrated from ENSG00000210194 to ENSG00000210194 (gene set migration)
Genetic Epilepsy v2.0 KCTD3 Gene migrated from ENSG00000136636 to ENSG00000136636 (gene set migration)
Genetic Epilepsy v2.0 PRMT9 Gene migrated from ENSG00000164169 to ENSG00000164169 (gene set migration)
Genetic Epilepsy v2.0 DIAPH1 Gene migrated from ENSG00000131504 to ENSG00000131504 (gene set migration)
Genetic Epilepsy v2.0 INPP4A Gene migrated from ENSG00000040933 to ENSG00000040933 (gene set migration)
Genetic Epilepsy v2.0 DEAF1 Gene migrated from ENSG00000177030 to ENSG00000177030 (gene set migration)
Genetic Epilepsy v2.0 ALG2 Gene migrated from ENSG00000119523 to ENSG00000119523 (gene set migration)
Genetic Epilepsy v2.0 NDE1 Gene migrated from ENSG00000072864 to ENSG00000072864 (gene set migration)
Genetic Epilepsy v2.0 AP2S1 Gene migrated from ENSG00000042753 to ENSG00000042753 (gene set migration)
Genetic Epilepsy v2.0 CDK5 Gene migrated from ENSG00000164885 to ENSG00000164885 (gene set migration)
Genetic Epilepsy v2.0 CERT1 Gene symbol changed from COL4A3BP to CERT1 during gene set migration (ENSG00000113163 -> ENSG00000113163)
Genetic Epilepsy v2.0 TMEM184B Gene migrated from ENSG00000198792 to ENSG00000198792 (gene set migration)
Genetic Epilepsy v2.0 AIRIM Gene symbol changed from C1orf109 to AIRIM during gene set migration (ENSG00000116922 -> ENSG00000116922)
Genetic Epilepsy v2.0 NCKAP1 Gene migrated from ENSG00000061676 to ENSG00000061676 (gene set migration)
Genetic Epilepsy v2.0 SNX27 Gene migrated from ENSG00000143376 to ENSG00000143376 (gene set migration)
Genetic Epilepsy v2.0 SNW1 Gene migrated from ENSG00000100603 to ENSG00000100603 (gene set migration)
Genetic Epilepsy v2.0 LRPPRC Gene migrated from ENSG00000138095 to ENSG00000138095 (gene set migration)
Genetic Epilepsy v2.0 LONP1 Gene migrated from ENSG00000196365 to ENSG00000196365 (gene set migration)
Genetic Epilepsy v2.0 WSB2 Gene migrated from ENSG00000176871 to ENSG00000176871 (gene set migration)
Genetic Epilepsy v2.0 RNU2-2 Gene symbol changed from RNU2-2P to RNU2-2 during gene set migration (ENSG00000222328 -> ENSG00000222328)
Genetic Epilepsy v2.0 PPFIA3 Gene migrated from ENSG00000177380 to ENSG00000177380 (gene set migration)
Genetic Epilepsy v2.0 SPOUT1 Gene migrated from ENSG00000198917 to ENSG00000198917 (gene set migration)
Genetic Epilepsy v2.0 KICS2 Gene symbol changed from C12orf66 to KICS2 during gene set migration (ENSG00000174206 -> ENSG00000174206)
Genetic Epilepsy v2.0 ARID1B Gene migrated from ENSG00000049618 to ENSG00000049618 (gene set migration)
Genetic Epilepsy v2.0 PIGC Gene migrated from ENSG00000135845 to ENSG00000135845 (gene set migration)
Genetic Epilepsy v2.0 PEX7 Gene migrated from ENSG00000112357 to ENSG00000112357 (gene set migration)
Genetic Epilepsy v2.0 PEX5 Gene migrated from ENSG00000139197 to ENSG00000139197 (gene set migration)
Genetic Epilepsy v2.0 SCN1B Gene migrated from ENSG00000105711 to ENSG00000105711 (gene set migration)
Genetic Epilepsy v2.0 SLC12A5 Gene migrated from ENSG00000124140 to ENSG00000124140 (gene set migration)
Genetic Epilepsy v2.0 UBE2A Gene migrated from ENSG00000077721 to ENSG00000077721 (gene set migration)
Genetic Epilepsy v2.0 TUBG1 Gene migrated from ENSG00000131462 to ENSG00000131462 (gene set migration)
Genetic Epilepsy v2.0 TUBA1A Gene migrated from ENSG00000167552 to ENSG00000167552 (gene set migration)
Genetic Epilepsy v2.0 TSC1 Gene migrated from ENSG00000165699 to ENSG00000165699 (gene set migration)
Genetic Epilepsy v2.0 FOXP1 Gene migrated from ENSG00000114861 to ENSG00000114861 (gene set migration)
Genetic Epilepsy v2.0 ATP6AP2 Gene migrated from ENSG00000182220 to ENSG00000182220 (gene set migration)
Genetic Epilepsy v2.0 EEFSEC Gene migrated from ENSG00000132394 to ENSG00000132394 (gene set migration)
Genetic Epilepsy v2.0 LETM1 Gene migrated from ENSG00000168924 to ENSG00000168924 (gene set migration)
Genetic Epilepsy v2.0 BCKDHA Gene migrated from ENSG00000248098 to ENSG00000248098 (gene set migration)
Genetic Epilepsy v2.0 GCSH Gene migrated from ENSG00000140905 to ENSG00000140905 (gene set migration)
Genetic Epilepsy v2.0 ASPA Gene migrated from ENSG00000108381 to ENSG00000108381 (gene set migration)
Genetic Epilepsy v2.0 ARX Gene migrated from ENSG00000004848 to ENSG00000004848 (gene set migration)
Genetic Epilepsy v2.0 ARV1 Gene migrated from ENSG00000173409 to ENSG00000173409 (gene set migration)
Genetic Epilepsy v2.0 ARFGEF2 Gene migrated from ENSG00000124198 to ENSG00000124198 (gene set migration)
Genetic Epilepsy v2.0 DBT Gene migrated from ENSG00000137992 to ENSG00000137992 (gene set migration)
Genetic Epilepsy v2.0 HNRNPR Gene migrated from ENSG00000125944 to ENSG00000125944 (gene set migration)
Genetic Epilepsy v2.0 AMT Gene migrated from ENSG00000145020 to ENSG00000145020 (gene set migration)
Genetic Epilepsy v2.0 ALPL Gene migrated from ENSG00000162551 to ENSG00000162551 (gene set migration)
Genetic Epilepsy v2.0 AKT3 Gene migrated from ENSG00000117020 to ENSG00000117020 (gene set migration)
Genetic Epilepsy v2.0 ADSL Gene migrated from ENSG00000239900 to ENSG00000239900 (gene set migration)
Genetic Epilepsy v2.0 NAPB Gene migrated from ENSG00000125814 to ENSG00000125814 (gene set migration)
Genetic Epilepsy v2.0 ADAR Gene migrated from ENSG00000160710 to ENSG00000160710 (gene set migration)
Genetic Epilepsy v2.0 GAMT Gene migrated from ENSG00000130005 to ENSG00000130005 (gene set migration)
Genetic Epilepsy v2.0 AMPD2 Gene migrated from ENSG00000116337 to ENSG00000116337 (gene set migration)
Genetic Epilepsy v2.0 PAH Gene migrated from ENSG00000171759 to ENSG00000171759 (gene set migration)
Genetic Epilepsy v2.0 ALDH7A1 Gene migrated from ENSG00000164904 to ENSG00000164904 (gene set migration)
Genetic Epilepsy v2.0 TRAPPC4 Gene migrated from ENSG00000196655 to ENSG00000196655 (gene set migration)
Genetic Epilepsy v2.0 C2orf69 Gene migrated from ENSG00000178074 to ENSG00000178074 (gene set migration)
Genetic Epilepsy v2.0 KRAS Gene migrated from ENSG00000133703 to ENSG00000133703 (gene set migration)
Genetic Epilepsy v2.0 C12orf57 Gene migrated from ENSG00000111678 to ENSG00000111678 (gene set migration)
Genetic Epilepsy v2.0 BTD Gene migrated from ENSG00000169814 to ENSG00000169814 (gene set migration)
Genetic Epilepsy v2.0 BOLA3 Gene migrated from ENSG00000163170 to ENSG00000163170 (gene set migration)
Genetic Epilepsy v2.0 BCS1L Gene migrated from ENSG00000074582 to ENSG00000074582 (gene set migration)
Genetic Epilepsy v2.0 GBA1 Gene symbol changed from GBA to GBA1 during gene set migration (ENSG00000177628 -> ENSG00000177628)
Genetic Epilepsy v2.0 ATP7A Gene migrated from ENSG00000165240 to ENSG00000165240 (gene set migration)
Genetic Epilepsy v2.0 FRMD5 Gene migrated from ENSG00000171877 to ENSG00000171877 (gene set migration)
Genetic Epilepsy v2.0 EIF2B5 Gene migrated from ENSG00000145191 to ENSG00000145191 (gene set migration)
Genetic Epilepsy v2.0 AMACR Gene migrated from ENSG00000242110 to ENSG00000242110 (gene set migration)
Genetic Epilepsy v2.0 CNKSR2 Gene migrated from ENSG00000149970 to ENSG00000149970 (gene set migration)
Genetic Epilepsy v2.0 COL4A2 Gene migrated from ENSG00000134871 to ENSG00000134871 (gene set migration)
Genetic Epilepsy v2.0 CLN8 Gene migrated from ENSG00000182372 to ENSG00000182372 (gene set migration)
Genetic Epilepsy v2.0 CLN3 Gene migrated from ENSG00000188603 to ENSG00000188603 (gene set migration)
Genetic Epilepsy v2.0 CC2D2A Gene migrated from ENSG00000048342 to ENSG00000048342 (gene set migration)
Genetic Epilepsy v2.0 COL4A1 Gene migrated from ENSG00000187498 to ENSG00000187498 (gene set migration)
Genetic Epilepsy v2.0 WAC Gene migrated from ENSG00000095787 to ENSG00000095787 (gene set migration)
Genetic Epilepsy v2.0 PTPN23 Gene migrated from ENSG00000076201 to ENSG00000076201 (gene set migration)
Genetic Epilepsy v2.0 ARID1A Gene migrated from ENSG00000117713 to ENSG00000117713 (gene set migration)
Genetic Epilepsy v2.0 PSAP Gene migrated from ENSG00000197746 to ENSG00000197746 (gene set migration)
Genetic Epilepsy v2.0 ARSA Gene migrated from ENSG00000100299 to ENSG00000100299 (gene set migration)
Genetic Epilepsy v2.0 ASPM Gene migrated from ENSG00000066279 to ENSG00000066279 (gene set migration)
Genetic Epilepsy v2.0 CASK Gene migrated from ENSG00000147044 to ENSG00000147044 (gene set migration)
Genetic Epilepsy v2.0 PPP3CA Gene migrated from ENSG00000138814 to ENSG00000138814 (gene set migration)
Genetic Epilepsy v2.0 ACTB Gene migrated from ENSG00000075624 to ENSG00000075624 (gene set migration)
Genetic Epilepsy v2.0 CNTN2 Gene migrated from ENSG00000184144 to ENSG00000184144 (gene set migration)
Genetic Epilepsy v2.0 AGA Gene migrated from ENSG00000038002 to ENSG00000038002 (gene set migration)
Genetic Epilepsy v2.0 PPT1 Gene migrated from ENSG00000131238 to ENSG00000131238 (gene set migration)
Genetic Epilepsy v2.0 FA2H Gene migrated from ENSG00000103089 to ENSG00000103089 (gene set migration)
Genetic Epilepsy v2.0 EMC1 Gene migrated from ENSG00000127463 to ENSG00000127463 (gene set migration)
Genetic Epilepsy v2.0 ALDH3A2 Gene migrated from ENSG00000072210 to ENSG00000072210 (gene set migration)
Genetic Epilepsy v2.0 HIVEP2 Gene migrated from ENSG00000010818 to ENSG00000010818 (gene set migration)
Genetic Epilepsy v2.0 PUM1 Gene migrated from ENSG00000134644 to ENSG00000134644 (gene set migration)
Genetic Epilepsy v2.0 ADNP Gene migrated from ENSG00000101126 to ENSG00000101126 (gene set migration)
Genetic Epilepsy v2.0 UGGT1 Gene migrated from ENSG00000136731 to ENSG00000136731 (gene set migration)
Genetic Epilepsy v2.0 TWNK Gene migrated from ENSG00000107815 to ENSG00000107815 (gene set migration)
Genetic Epilepsy v2.0 GRIA1 Gene migrated from ENSG00000155511 to ENSG00000155511 (gene set migration)
Genetic Epilepsy v2.0 WNK3 Gene migrated from ENSG00000196632 to ENSG00000196632 (gene set migration)
Genetic Epilepsy v2.0 GPT2 Gene migrated from ENSG00000166123 to ENSG00000166123 (gene set migration)
Genetic Epilepsy v2.0 TRMT1 Gene migrated from ENSG00000104907 to ENSG00000104907 (gene set migration)
Genetic Epilepsy v2.0 NR2F1 Gene migrated from ENSG00000175745 to ENSG00000175745 (gene set migration)
Genetic Epilepsy v2.0 NALCN Gene migrated from ENSG00000102452 to ENSG00000102452 (gene set migration)
Genetic Epilepsy v2.0 ACY1 Gene migrated from ENSG00000243989 to ENSG00000243989 (gene set migration)
Genetic Epilepsy v2.0 TRIT1 Gene migrated from ENSG00000043514 to ENSG00000043514 (gene set migration)
Genetic Epilepsy v2.0 PEX10 Gene migrated from ENSG00000157911 to ENSG00000157911 (gene set migration)
Genetic Epilepsy v2.0 TRIO Gene migrated from ENSG00000038382 to ENSG00000038382 (gene set migration)
Genetic Epilepsy v2.0 PEX13 Gene migrated from ENSG00000162928 to ENSG00000162928 (gene set migration)
Genetic Epilepsy v2.0 TREM2 Gene migrated from ENSG00000095970 to ENSG00000095970 (gene set migration)
Genetic Epilepsy v2.0 TPK1 Gene migrated from ENSG00000196511 to ENSG00000196511 (gene set migration)
Genetic Epilepsy v2.0 CTU2 Gene migrated from ENSG00000174177 to ENSG00000174177 (gene set migration)
Genetic Epilepsy v2.0 CYP27A1 Gene migrated from ENSG00000135929 to ENSG00000135929 (gene set migration)
Genetic Epilepsy v2.0 FGFR1 Gene migrated from ENSG00000077782 to ENSG00000077782 (gene set migration)
Genetic Epilepsy v2.0 RBFOX1 Gene migrated from ENSG00000078328 to ENSG00000078328 (gene set migration)
Genetic Epilepsy v2.0 GMPPB Gene migrated from ENSG00000173540 to ENSG00000173540 (gene set migration)
Genetic Epilepsy v2.0 CRPPA Gene symbol changed from ISPD to CRPPA during gene set migration (ENSG00000214960 -> ENSG00000214960)
Genetic Epilepsy v2.0 CSNK2A1 Gene migrated from ENSG00000101266 to ENSG00000101266 (gene set migration)
Genetic Epilepsy v2.0 CRADD Gene migrated from ENSG00000169372 to ENSG00000169372 (gene set migration)
Genetic Epilepsy v2.0 CPT2 Gene migrated from ENSG00000157184 to ENSG00000157184 (gene set migration)
Genetic Epilepsy v2.0 TRMT10A Gene migrated from ENSG00000145331 to ENSG00000145331 (gene set migration)
Genetic Epilepsy v2.0 CSF1R Gene migrated from ENSG00000182578 to ENSG00000182578 (gene set migration)
Genetic Epilepsy v2.0 CTSF Gene migrated from ENSG00000174080 to ENSG00000174080 (gene set migration)
Genetic Epilepsy v2.0 ASXL3 Gene migrated from ENSG00000141431 to ENSG00000141431 (gene set migration)
Genetic Epilepsy v2.0 TMEM163 Gene migrated from ENSG00000152128 to ENSG00000152128 (gene set migration)
Genetic Epilepsy v2.0 BCKDK Gene migrated from ENSG00000103507 to ENSG00000103507 (gene set migration)
Genetic Epilepsy v2.0 B3GALNT2 Gene migrated from ENSG00000162885 to ENSG00000162885 (gene set migration)
Genetic Epilepsy v2.0 PRUNE1 Gene migrated from ENSG00000143363 to ENSG00000143363 (gene set migration)
Genetic Epilepsy v2.0 HECTD4 Gene migrated from ENSG00000173064 to ENSG00000173064 (gene set migration)
Genetic Epilepsy v2.0 STX1A Gene migrated from ENSG00000106089 to ENSG00000106089 (gene set migration)
Genetic Epilepsy v2.0 PLA2G6 Gene migrated from ENSG00000184381 to ENSG00000184381 (gene set migration)
Genetic Epilepsy v2.0 CPT1A Gene migrated from ENSG00000110090 to ENSG00000110090 (gene set migration)
Genetic Epilepsy v2.0 CWF19L1 Gene migrated from ENSG00000095485 to ENSG00000095485 (gene set migration)
Genetic Epilepsy v2.0 FLNA Gene migrated from ENSG00000196924 to ENSG00000196924 (gene set migration)
Genetic Epilepsy v2.0 CACNA1C Gene migrated from ENSG00000151067 to ENSG00000151067 (gene set migration)
Genetic Epilepsy v2.0 CUL1 Gene migrated from ENSG00000055130 to ENSG00000055130 (gene set migration)
Genetic Epilepsy v2.0 UFSP2 Gene migrated from ENSG00000109775 to ENSG00000109775 (gene set migration)
Genetic Epilepsy v2.0 TRAPPC10 Gene migrated from ENSG00000160218 to ENSG00000160218 (gene set migration)
Genetic Epilepsy v2.0 SLC46A1 Gene migrated from ENSG00000076351 to ENSG00000076351 (gene set migration)
Genetic Epilepsy v2.0 OTUD7A Gene migrated from ENSG00000169918 to ENSG00000169918 (gene set migration)
Genetic Epilepsy v2.0 ALG1 Gene migrated from ENSG00000033011 to ENSG00000033011 (gene set migration)
Genetic Epilepsy v2.0 AFG2B Gene symbol changed from SPATA5L1 to AFG2B during gene set migration (ENSG00000171763 -> ENSG00000171763)
Genetic Epilepsy v2.0 HNRNPH2 Gene migrated from ENSG00000126945 to ENSG00000126945 (gene set migration)
Genetic Epilepsy v2.0 TFE3 Gene migrated from ENSG00000068323 to ENSG00000068323 (gene set migration)
Genetic Epilepsy v2.0 ETHE1 Gene migrated from ENSG00000105755 to ENSG00000105755 (gene set migration)
Genetic Epilepsy v2.0 STX1B Gene migrated from ENSG00000099365 to ENSG00000099365 (gene set migration)
Genetic Epilepsy v2.0 PCDHGC4 Gene migrated from ENSG00000242419 to ENSG00000242419 (gene set migration)
Genetic Epilepsy v2.0 ZNF526 Gene migrated from ENSG00000167625 to ENSG00000167625 (gene set migration)
Genetic Epilepsy v2.0 CACNA2D2 Gene migrated from ENSG00000007402 to ENSG00000007402 (gene set migration)
Genetic Epilepsy v2.0 SZT2 Gene migrated from ENSG00000198198 to ENSG00000198198 (gene set migration)
Genetic Epilepsy v2.0 SLC1A2 Gene migrated from ENSG00000110436 to ENSG00000110436 (gene set migration)
Genetic Epilepsy v2.0 SRRM4 Gene migrated from ENSG00000139767 to ENSG00000139767 (gene set migration)
Genetic Epilepsy v2.0 NRXN1 Gene migrated from ENSG00000179915 to ENSG00000179915 (gene set migration)
Genetic Epilepsy v2.0 CHKA Gene migrated from ENSG00000110721 to ENSG00000110721 (gene set migration)
Genetic Epilepsy v2.0 GRIA4 Gene migrated from ENSG00000152578 to ENSG00000152578 (gene set migration)
Genetic Epilepsy v2.0 SLC38A3 Gene migrated from ENSG00000188338 to ENSG00000188338 (gene set migration)
Genetic Epilepsy v2.0 SCARB2 Gene migrated from ENSG00000138760 to ENSG00000138760 (gene set migration)
Genetic Epilepsy v2.0 LIAS Gene migrated from ENSG00000121897 to ENSG00000121897 (gene set migration)
Genetic Epilepsy v2.0 KCNC1 Gene migrated from ENSG00000129159 to ENSG00000129159 (gene set migration)
Genetic Epilepsy v2.0 NARS2 Gene migrated from ENSG00000137513 to ENSG00000137513 (gene set migration)
Genetic Epilepsy v2.0 NACC1 Gene migrated from ENSG00000160877 to ENSG00000160877 (gene set migration)
Genetic Epilepsy v2.0 EARS2 Gene migrated from ENSG00000103356 to ENSG00000103356 (gene set migration)
Genetic Epilepsy v2.0 NDST1 Gene migrated from ENSG00000070614 to ENSG00000070614 (gene set migration)
Genetic Epilepsy v2.0 GRIN1 Gene migrated from ENSG00000176884 to ENSG00000176884 (gene set migration)
Genetic Epilepsy v2.0 TBCK Gene migrated from ENSG00000145348 to ENSG00000145348 (gene set migration)
Genetic Epilepsy v2.0 ZBTB18 Gene migrated from ENSG00000179456 to ENSG00000179456 (gene set migration)
Genetic Epilepsy v2.0 CPSF3 Gene migrated from ENSG00000119203 to ENSG00000119203 (gene set migration)
Genetic Epilepsy v2.0 LAMC3 Gene migrated from ENSG00000050555 to ENSG00000050555 (gene set migration)
Genetic Epilepsy v2.0 ACTL6B Gene migrated from ENSG00000077080 to ENSG00000077080 (gene set migration)
Genetic Epilepsy v2.0 NPRL3 Gene migrated from ENSG00000103148 to ENSG00000103148 (gene set migration)
Genetic Epilepsy v2.0 GRIK2 Gene migrated from ENSG00000164418 to ENSG00000164418 (gene set migration)
Genetic Epilepsy v2.0 SLC32A1 Gene migrated from ENSG00000101438 to ENSG00000101438 (gene set migration)
Genetic Epilepsy v2.0 ARF1 Gene migrated from ENSG00000143761 to ENSG00000143761 (gene set migration)
Genetic Epilepsy v2.0 CLCN3 Gene migrated from ENSG00000109572 to ENSG00000109572 (gene set migration)
Genetic Epilepsy v2.0 ANKRD17 Gene migrated from ENSG00000132466 to ENSG00000132466 (gene set migration)
Genetic Epilepsy v2.0 KCND3 Gene migrated from ENSG00000171385 to ENSG00000171385 (gene set migration)
Genetic Epilepsy v2.0 PNPO Gene migrated from ENSG00000108439 to ENSG00000108439 (gene set migration)
Genetic Epilepsy v2.0 ARF3 Gene migrated from ENSG00000134287 to ENSG00000134287 (gene set migration)
Genetic Epilepsy v2.0 TMEM222 Gene migrated from ENSG00000186501 to ENSG00000186501 (gene set migration)
Genetic Epilepsy v2.0 KCNJ10 Gene migrated from ENSG00000177807 to ENSG00000177807 (gene set migration)
Genetic Epilepsy v2.0 ARHGEF9 Gene migrated from ENSG00000131089 to ENSG00000131089 (gene set migration)
Genetic Epilepsy v2.0 SPTBN1 Gene migrated from ENSG00000115306 to ENSG00000115306 (gene set migration)
Genetic Epilepsy v2.0 NDUFAF2 Gene migrated from ENSG00000164182 to ENSG00000164182 (gene set migration)
Genetic Epilepsy v2.0 PPP2R1A Gene migrated from ENSG00000105568 to ENSG00000105568 (gene set migration)
Genetic Epilepsy v2.0 ATG12 Gene migrated from ENSG00000145782 to ENSG00000145782 (gene set migration)
Genetic Epilepsy v2.0 WDR62 Gene migrated from ENSG00000075702 to ENSG00000075702 (gene set migration)
Genetic Epilepsy v2.0 STAMBP Gene migrated from ENSG00000124356 to ENSG00000124356 (gene set migration)
Genetic Epilepsy v2.0 IER3IP1 Gene migrated from ENSG00000134049 to ENSG00000134049 (gene set migration)
Genetic Epilepsy v2.0 RAB11B Gene migrated from ENSG00000185236 to ENSG00000185236 (gene set migration)
Genetic Epilepsy v2.0 SATB1 Gene migrated from ENSG00000182568 to ENSG00000182568 (gene set migration)
Genetic Epilepsy v2.0 SLC1A4 Gene migrated from ENSG00000115902 to ENSG00000115902 (gene set migration)
Genetic Epilepsy v2.0 ZEB2 Gene migrated from ENSG00000169554 to ENSG00000169554 (gene set migration)
Genetic Epilepsy v2.0 PCDH19 Gene migrated from ENSG00000165194 to ENSG00000165194 (gene set migration)
Genetic Epilepsy v2.0 DOCK7 Gene migrated from ENSG00000116641 to ENSG00000116641 (gene set migration)
Genetic Epilepsy v2.0 SLC9A6 Gene migrated from ENSG00000198689 to ENSG00000198689 (gene set migration)
Genetic Epilepsy v2.0 SPTAN1 Gene migrated from ENSG00000197694 to ENSG00000197694 (gene set migration)
Genetic Epilepsy v2.0 SEC31A Gene migrated from ENSG00000138674 to ENSG00000138674 (gene set migration)
Genetic Epilepsy v2.0 HNRNPU Gene migrated from ENSG00000153187 to ENSG00000153187 (gene set migration)
Genetic Epilepsy v2.0 NHLRC1 Gene migrated from ENSG00000187566 to ENSG00000187566 (gene set migration)
Genetic Epilepsy v2.0 UBR7 Gene migrated from ENSG00000012963 to ENSG00000012963 (gene set migration)
Genetic Epilepsy v2.0 FGF13 Gene migrated from ENSG00000129682 to ENSG00000129682 (gene set migration)
Genetic Epilepsy v2.0 CHRNB2 Gene migrated from ENSG00000160716 to ENSG00000160716 (gene set migration)
Genetic Epilepsy v2.0 SATB2 Gene migrated from ENSG00000119042 to ENSG00000119042 (gene set migration)
Genetic Epilepsy v2.0 MEF2C Gene migrated from ENSG00000081189 to ENSG00000081189 (gene set migration)
Genetic Epilepsy v2.0 MBD5 Gene migrated from ENSG00000204406 to ENSG00000204406 (gene set migration)
Genetic Epilepsy v2.0 EHMT1 Gene migrated from ENSG00000181090 to ENSG00000181090 (gene set migration)
Genetic Epilepsy v2.0 TBC1D2B Gene migrated from ENSG00000167202 to ENSG00000167202 (gene set migration)
Genetic Epilepsy v2.0 EEF1A2 Gene migrated from ENSG00000101210 to ENSG00000101210 (gene set migration)
Genetic Epilepsy v2.0 KDM4B Gene migrated from ENSG00000127663 to ENSG00000127663 (gene set migration)
Genetic Epilepsy v2.0 ANKRD11 Gene migrated from ENSG00000167522 to ENSG00000167522 (gene set migration)
Genetic Epilepsy v2.0 PPIL1 Gene migrated from ENSG00000137168 to ENSG00000137168 (gene set migration)
Genetic Epilepsy v2.0 KCNMA1 Gene migrated from ENSG00000156113 to ENSG00000156113 (gene set migration)
Genetic Epilepsy v2.0 CEP85L Gene migrated from ENSG00000111860 to ENSG00000111860 (gene set migration)
Genetic Epilepsy v2.0 WDR37 Gene migrated from ENSG00000047056 to ENSG00000047056 (gene set migration)
Genetic Epilepsy v2.0 CAMK2B Gene migrated from ENSG00000058404 to ENSG00000058404 (gene set migration)
Genetic Epilepsy v2.0 GAD1 Gene migrated from ENSG00000128683 to ENSG00000128683 (gene set migration)
Genetic Epilepsy v2.0 VPS4A Gene migrated from ENSG00000132612 to ENSG00000132612 (gene set migration)
Genetic Epilepsy v2.0 ST3GAL5 Gene migrated from ENSG00000115525 to ENSG00000115525 (gene set migration)
Genetic Epilepsy v2.0 KAT5 Gene migrated from ENSG00000172977 to ENSG00000172977 (gene set migration)
Genetic Epilepsy v2.0 RFT1 Gene migrated from ENSG00000163933 to ENSG00000163933 (gene set migration)
Genetic Epilepsy v2.0 H3-3A Gene symbol changed from H3F3A to H3-3A during gene set migration (ENSG00000163041 -> ENSG00000163041)
Genetic Epilepsy v2.0 WWOX Gene migrated from ENSG00000186153 to ENSG00000186153 (gene set migration)
Genetic Epilepsy v2.0 PARP6 Gene migrated from ENSG00000137817 to ENSG00000137817 (gene set migration)
Genetic Epilepsy v2.0 OGDHL Gene migrated from ENSG00000197444 to ENSG00000197444 (gene set migration)
Genetic Epilepsy v2.0 SCAMP5 Gene migrated from ENSG00000198794 to ENSG00000198794 (gene set migration)
Genetic Epilepsy v2.0 PGAP3 Gene migrated from ENSG00000161395 to ENSG00000161395 (gene set migration)
Genetic Epilepsy v2.0 PNKP Gene migrated from ENSG00000039650 to ENSG00000039650 (gene set migration)
Genetic Epilepsy v2.0 PIGM Gene migrated from ENSG00000143315 to ENSG00000143315 (gene set migration)
Genetic Epilepsy v2.0 PIGV Gene migrated from ENSG00000060642 to ENSG00000060642 (gene set migration)
Genetic Epilepsy v2.0 TRA2B Gene migrated from ENSG00000136527 to ENSG00000136527 (gene set migration)
Genetic Epilepsy v2.0 PIGT Gene migrated from ENSG00000124155 to ENSG00000124155 (gene set migration)
Genetic Epilepsy v2.0 PIGO Gene migrated from ENSG00000165282 to ENSG00000165282 (gene set migration)
Genetic Epilepsy v2.0 PIGP Gene migrated from ENSG00000185808 to ENSG00000185808 (gene set migration)
Genetic Epilepsy v2.0 PIGN Gene migrated from ENSG00000197563 to ENSG00000197563 (gene set migration)
Genetic Epilepsy v2.0 PIGK Gene migrated from ENSG00000142892 to ENSG00000142892 (gene set migration)
Genetic Epilepsy v2.0 PIGH Gene migrated from ENSG00000100564 to ENSG00000100564 (gene set migration)
Genetic Epilepsy v2.0 KCNQ3 Gene migrated from ENSG00000184156 to ENSG00000184156 (gene set migration)
Genetic Epilepsy v2.0 PIGB Gene migrated from ENSG00000069943 to ENSG00000069943 (gene set migration)
Genetic Epilepsy v2.0 GPAA1 Gene migrated from ENSG00000197858 to ENSG00000197858 (gene set migration)
Genetic Epilepsy v2.0 MPDU1 Gene migrated from ENSG00000129255 to ENSG00000129255 (gene set migration)
Genetic Epilepsy v2.0 MT-TY Gene migrated from ENSG00000210144 to ENSG00000210144 (gene set migration)
Genetic Epilepsy v2.0 ADARB1 Gene migrated from ENSG00000197381 to ENSG00000197381 (gene set migration)
Genetic Epilepsy v2.0 DPAGT1 Gene migrated from ENSG00000172269 to ENSG00000172269 (gene set migration)
Genetic Epilepsy v2.0 ALG9 Gene migrated from ENSG00000086848 to ENSG00000086848 (gene set migration)
Genetic Epilepsy v2.0 AIMP1 Gene migrated from ENSG00000164022 to ENSG00000164022 (gene set migration)
Genetic Epilepsy v2.0 RORA Gene migrated from ENSG00000069667 to ENSG00000069667 (gene set migration)
Genetic Epilepsy v2.0 PIGG Gene migrated from ENSG00000174227 to ENSG00000174227 (gene set migration)
Genetic Epilepsy v2.0 KCNA2 Gene migrated from ENSG00000177301 to ENSG00000177301 (gene set migration)
Genetic Epilepsy v2.0 ATAD1 Gene migrated from ENSG00000138138 to ENSG00000138138 (gene set migration)
Genetic Epilepsy v2.0 ADPRS Gene symbol changed from ADPRHL2 to ADPRS during gene set migration (ENSG00000116863 -> ENSG00000116863)
Genetic Epilepsy v2.0 VAMP2 Gene migrated from ENSG00000220205 to ENSG00000220205 (gene set migration)
Genetic Epilepsy v2.0 DYRK1A Gene migrated from ENSG00000157540 to ENSG00000157540 (gene set migration)
Genetic Epilepsy v2.0 SLC16A2 Gene migrated from ENSG00000147100 to ENSG00000147100 (gene set migration)
Genetic Epilepsy v2.0 GABRD Gene migrated from ENSG00000187730 to ENSG00000187730 (gene set migration)
Genetic Epilepsy v2.0 RORB Gene migrated from ENSG00000198963 to ENSG00000198963 (gene set migration)
Genetic Epilepsy v2.0 HACE1 Gene migrated from ENSG00000085382 to ENSG00000085382 (gene set migration)
Genetic Epilepsy v2.0 FBXO28 Gene migrated from ENSG00000143756 to ENSG00000143756 (gene set migration)
Genetic Epilepsy v2.0 SETD1A Gene migrated from ENSG00000099381 to ENSG00000099381 (gene set migration)
Genetic Epilepsy v2.0 MYT1L Gene migrated from ENSG00000186487 to ENSG00000186487 (gene set migration)
Genetic Epilepsy v2.0 MT-TW Gene migrated from ENSG00000210117 to ENSG00000210117 (gene set migration)
Genetic Epilepsy v2.0 IRF2BPL Gene migrated from ENSG00000119669 to ENSG00000119669 (gene set migration)
Genetic Epilepsy v2.0 ALG3 Gene migrated from ENSG00000214160 to ENSG00000214160 (gene set migration)
Genetic Epilepsy v2.0 HECW2 Gene migrated from ENSG00000138411 to ENSG00000138411 (gene set migration)
Genetic Epilepsy v2.0 KCNQ2 Gene migrated from ENSG00000075043 to ENSG00000075043 (gene set migration)
Genetic Epilepsy v2.0 YIF1B Gene migrated from ENSG00000167645 to ENSG00000167645 (gene set migration)
Genetic Epilepsy v2.0 UNC80 Gene migrated from ENSG00000144406 to ENSG00000144406 (gene set migration)
Genetic Epilepsy v2.0 ALG6 Gene migrated from ENSG00000088035 to ENSG00000088035 (gene set migration)
Genetic Epilepsy v2.0 TNPO2 Gene migrated from ENSG00000105576 to ENSG00000105576 (gene set migration)
Genetic Epilepsy v2.0 CAMK2A Gene migrated from ENSG00000070808 to ENSG00000070808 (gene set migration)
Genetic Epilepsy v2.0 KIF5C Gene migrated from ENSG00000168280 to ENSG00000168280 (gene set migration)
Genetic Epilepsy v2.0 KIF2A Gene migrated from ENSG00000068796 to ENSG00000068796 (gene set migration)
Genetic Epilepsy v2.0 AARS1 Gene symbol changed from AARS to AARS1 during gene set migration (ENSG00000090861 -> ENSG00000090861)
Genetic Epilepsy v2.0 RELN Gene migrated from ENSG00000189056 to ENSG00000189056 (gene set migration)
Genetic Epilepsy v2.0 PAFAH1B1 Gene migrated from ENSG00000007168 to ENSG00000007168 (gene set migration)
Genetic Epilepsy v2.0 POLR3B Gene migrated from ENSG00000013503 to ENSG00000013503 (gene set migration)
Genetic Epilepsy v2.0 HPDL Gene migrated from ENSG00000186603 to ENSG00000186603 (gene set migration)
Genetic Epilepsy v2.0 MOCS1 Gene migrated from ENSG00000124615 to ENSG00000124615 (gene set migration)
Genetic Epilepsy v2.0 MT-TV Gene migrated from ENSG00000210077 to ENSG00000210077 (gene set migration)
Genetic Epilepsy v2.0 SMARCB1 Gene migrated from ENSG00000099956 to ENSG00000099956 (gene set migration)
Genetic Epilepsy v2.0 KPTN Gene migrated from ENSG00000118162 to ENSG00000118162 (gene set migration)
Genetic Epilepsy v2.0 BRSK1 Gene migrated from ENSG00000160469 to ENSG00000160469 (gene set migration)
Genetic Epilepsy v2.0 ALG11 Gene migrated from ENSG00000253710 to ENSG00000253710 (gene set migration)
Genetic Epilepsy v2.0 SLC13A5 Gene migrated from ENSG00000141485 to ENSG00000141485 (gene set migration)
Genetic Epilepsy v2.0 NPRL2 Gene migrated from ENSG00000114388 to ENSG00000114388 (gene set migration)
Genetic Epilepsy v2.0 GABRG2 Gene migrated from ENSG00000113327 to ENSG00000113327 (gene set migration)
Genetic Epilepsy v2.0 GABRB3 Gene migrated from ENSG00000166206 to ENSG00000166206 (gene set migration)
Genetic Epilepsy v2.0 LMBRD2 Gene migrated from ENSG00000164187 to ENSG00000164187 (gene set migration)
Genetic Epilepsy v2.0 FOLR1 Gene migrated from ENSG00000110195 to ENSG00000110195 (gene set migration)
Genetic Epilepsy v2.0 ALDH5A1 Gene migrated from ENSG00000112294 to ENSG00000112294 (gene set migration)
Genetic Epilepsy v2.0 PIGQ Gene migrated from ENSG00000007541 to ENSG00000007541 (gene set migration)
Genetic Epilepsy v2.0 SCAF4 Gene migrated from ENSG00000156304 to ENSG00000156304 (gene set migration)
Genetic Epilepsy v2.0 LARS1 Gene symbol changed from LARS to LARS1 during gene set migration (ENSG00000133706 -> ENSG00000133706)
Genetic Epilepsy v2.0 CNPY3 Gene migrated from ENSG00000137161 to ENSG00000137161 (gene set migration)
Genetic Epilepsy v2.0 HERC2 Gene migrated from ENSG00000128731 to ENSG00000128731 (gene set migration)
Genetic Epilepsy v2.0 ABCA2 Gene migrated from ENSG00000107331 to ENSG00000107331 (gene set migration)
Genetic Epilepsy v2.0 MT-TT Gene migrated from ENSG00000210195 to ENSG00000210195 (gene set migration)
Genetic Epilepsy v2.0 NARS1 Gene symbol changed from NARS to NARS1 during gene set migration (ENSG00000134440 -> ENSG00000134440)
Genetic Epilepsy v2.0 MADD Gene migrated from ENSG00000110514 to ENSG00000110514 (gene set migration)
Genetic Epilepsy v2.0 PNPT1 Gene migrated from ENSG00000138035 to ENSG00000138035 (gene set migration)
Genetic Epilepsy v2.0 KAT8 Gene migrated from ENSG00000103510 to ENSG00000103510 (gene set migration)
Genetic Epilepsy v2.0 MT-TS2 Gene migrated from ENSG00000210184 to ENSG00000210184 (gene set migration)
Genetic Epilepsy v2.0 PHF6 Gene migrated from ENSG00000156531 to ENSG00000156531 (gene set migration)
Genetic Epilepsy v2.0 MOGS Gene migrated from ENSG00000115275 to ENSG00000115275 (gene set migration)
Genetic Epilepsy v2.0 TARS2 Gene migrated from ENSG00000143374 to ENSG00000143374 (gene set migration)
Genetic Epilepsy v2.0 TBX19 Gene migrated from ENSG00000143178 to ENSG00000143178 (gene set migration)
Genetic Epilepsy v2.0 PET100 Gene migrated from ENSG00000229833 to ENSG00000229833 (gene set migration)
Genetic Epilepsy v2.0 PRMT7 Gene migrated from ENSG00000132600 to ENSG00000132600 (gene set migration)
Genetic Epilepsy v2.0 TRAPPC12 Gene migrated from ENSG00000171853 to ENSG00000171853 (gene set migration)
Genetic Epilepsy v2.0 GRN Gene migrated from ENSG00000030582 to ENSG00000030582 (gene set migration)
Genetic Epilepsy v2.0 SETD1B Gene migrated from ENSG00000139718 to ENSG00000139718 (gene set migration)
Genetic Epilepsy v2.0 ALG13 Gene migrated from ENSG00000101901 to ENSG00000101901 (gene set migration)
Genetic Epilepsy v2.0 SLC5A6 Gene migrated from ENSG00000138074 to ENSG00000138074 (gene set migration)
Genetic Epilepsy v2.0 ZMYND8 Gene migrated from ENSG00000101040 to ENSG00000101040 (gene set migration)
Genetic Epilepsy v2.0 PLCB1 Gene migrated from ENSG00000182621 to ENSG00000182621 (gene set migration)
Genetic Epilepsy v2.0 EXOC7 Gene migrated from ENSG00000182473 to ENSG00000182473 (gene set migration)
Genetic Epilepsy v2.0 UGDH Gene migrated from ENSG00000109814 to ENSG00000109814 (gene set migration)
Genetic Epilepsy v2.0 SPTBN4 Gene migrated from ENSG00000160460 to ENSG00000160460 (gene set migration)
Genetic Epilepsy v2.0 MT-TS1 Gene migrated from ENSG00000210151 to ENSG00000210151 (gene set migration)
Genetic Epilepsy v2.0 MT-TR Gene migrated from ENSG00000210174 to ENSG00000210174 (gene set migration)
Genetic Epilepsy v2.0 DHX30 Gene migrated from ENSG00000132153 to ENSG00000132153 (gene set migration)
Genetic Epilepsy v2.0 CLN6 Gene migrated from ENSG00000128973 to ENSG00000128973 (gene set migration)
Genetic Epilepsy v2.0 SLC6A1 Gene migrated from ENSG00000157103 to ENSG00000157103 (gene set migration)
Genetic Epilepsy v2.0 SMC1A Gene migrated from ENSG00000072501 to ENSG00000072501 (gene set migration)
Genetic Epilepsy v2.0 NSDHL Gene migrated from ENSG00000147383 to ENSG00000147383 (gene set migration)
Genetic Epilepsy v2.0 BAP1 Gene migrated from ENSG00000163930 to ENSG00000163930 (gene set migration)
Genetic Epilepsy v2.0 PACS1 Gene migrated from ENSG00000175115 to ENSG00000175115 (gene set migration)
Genetic Epilepsy v2.0 GABBR2 Gene migrated from ENSG00000136928 to ENSG00000136928 (gene set migration)
Genetic Epilepsy v2.0 CDK19 Gene migrated from ENSG00000155111 to ENSG00000155111 (gene set migration)
Genetic Epilepsy v2.0 STEEP1 Gene symbol changed from CXorf56 to STEEP1 during gene set migration (ENSG00000018610 -> ENSG00000018610)
Genetic Epilepsy v2.0 SCN3A Gene migrated from ENSG00000153253 to ENSG00000153253 (gene set migration)
Genetic Epilepsy v2.0 UBA5 Gene migrated from ENSG00000081307 to ENSG00000081307 (gene set migration)
Genetic Epilepsy v2.0 AP3B2 Gene migrated from ENSG00000103723 to ENSG00000103723 (gene set migration)
Genetic Epilepsy v2.0 CHD3 Gene migrated from ENSG00000170004 to ENSG00000170004 (gene set migration)
Genetic Epilepsy v2.0 CSMD1 Gene migrated from ENSG00000183117 to ENSG00000183117 (gene set migration)
Genetic Epilepsy v2.0 KCNB1 Gene migrated from ENSG00000158445 to ENSG00000158445 (gene set migration)
Genetic Epilepsy v2.0 EEF1B2 Gene migrated from ENSG00000114942 to ENSG00000114942 (gene set migration)
Genetic Epilepsy v2.0 RNH1 Gene migrated from ENSG00000023191 to ENSG00000023191 (gene set migration)
Genetic Epilepsy v2.0 DPYD Gene migrated from ENSG00000188641 to ENSG00000188641 (gene set migration)
Genetic Epilepsy v2.0 GALNT2 Gene migrated from ENSG00000143641 to ENSG00000143641 (gene set migration)
Genetic Epilepsy v2.0 YIPF5 Gene migrated from ENSG00000145817 to ENSG00000145817 (gene set migration)
Genetic Epilepsy v2.0 PLPBP Gene migrated from ENSG00000147471 to ENSG00000147471 (gene set migration)
Genetic Epilepsy v2.0 CELF2 Gene migrated from ENSG00000048740 to ENSG00000048740 (gene set migration)
Genetic Epilepsy v2.0 ISCA1 Gene migrated from ENSG00000135070 to ENSG00000135070 (gene set migration)
Genetic Epilepsy v2.0 SEMA6B Gene migrated from ENSG00000167680 to ENSG00000167680 (gene set migration)
Genetic Epilepsy v2.0 CLN5 Gene migrated from ENSG00000102805 to ENSG00000102805 (gene set migration)
Genetic Epilepsy v2.0 GABRB2 Gene migrated from ENSG00000145864 to ENSG00000145864 (gene set migration)
Genetic Epilepsy v2.0 SYNGAP1 Gene migrated from ENSG00000197283 to ENSG00000197283 (gene set migration)
Genetic Epilepsy v2.0 VARS1 Gene symbol changed from VARS to VARS1 during gene set migration (ENSG00000204394 -> ENSG00000204394)
Genetic Epilepsy v2.0 CUX2 Gene migrated from ENSG00000111249 to ENSG00000111249 (gene set migration)
Genetic Epilepsy v2.0 AP1G1 Gene migrated from ENSG00000166747 to ENSG00000166747 (gene set migration)
Genetic Epilepsy v2.0 GRM7 Gene migrated from ENSG00000196277 to ENSG00000196277 (gene set migration)
Genetic Epilepsy v2.0 NRROS Gene migrated from ENSG00000174004 to ENSG00000174004 (gene set migration)
Genetic Epilepsy v2.0 NEXMIF Gene migrated from ENSG00000050030 to ENSG00000050030 (gene set migration)
Genetic Epilepsy v2.0 TREX1 Gene migrated from ENSG00000213689 to ENSG00000213689 (gene set migration)
Genetic Epilepsy v2.0 QARS1 Gene symbol changed from QARS to QARS1 during gene set migration (ENSG00000172053 -> ENSG00000172053)
Genetic Epilepsy v2.0 CHD2 Gene migrated from ENSG00000173575 to ENSG00000173575 (gene set migration)
Genetic Epilepsy v2.0 GABRA1 Gene migrated from ENSG00000022355 to ENSG00000022355 (gene set migration)
Genetic Epilepsy v2.0 EML1 Gene migrated from ENSG00000066629 to ENSG00000066629 (gene set migration)
Genetic Epilepsy v2.0 GRIN2D Gene migrated from ENSG00000105464 to ENSG00000105464 (gene set migration)
Genetic Epilepsy v2.0 VPS13A Gene migrated from ENSG00000197969 to ENSG00000197969 (gene set migration)
Genetic Epilepsy v2.0 TMX2 Gene migrated from ENSG00000213593 to ENSG00000213593 (gene set migration)
Genetic Epilepsy v2.0 PMPCB Gene migrated from ENSG00000105819 to ENSG00000105819 (gene set migration)
Genetic Epilepsy v2.0 PCYT2 Gene migrated from ENSG00000185813 to ENSG00000185813 (gene set migration)
Genetic Epilepsy v2.0 OXR1 Gene migrated from ENSG00000164830 to ENSG00000164830 (gene set migration)
Genetic Epilepsy v2.0 SERPINI1 Gene migrated from ENSG00000163536 to ENSG00000163536 (gene set migration)
Genetic Epilepsy v2.0 NEU1 Gene migrated from ENSG00000204386 to ENSG00000204386 (gene set migration)
Genetic Epilepsy v2.0 CERS1 Gene migrated from ENSG00000223802 to ENSG00000223802 (gene set migration)
Genetic Epilepsy v2.0 RAC3 Gene migrated from ENSG00000169750 to ENSG00000169750 (gene set migration)
Genetic Epilepsy v2.0 AGMO Gene migrated from ENSG00000187546 to ENSG00000187546 (gene set migration)
Genetic Epilepsy v2.0 PNPLA8 Gene migrated from ENSG00000135241 to ENSG00000135241 (gene set migration)
Genetic Epilepsy v2.0 CHRNA4 Gene migrated from ENSG00000101204 to ENSG00000101204 (gene set migration)
Genetic Epilepsy v2.0 NBEA Gene migrated from ENSG00000172915 to ENSG00000172915 (gene set migration)
Genetic Epilepsy v2.0 GNAO1 Gene migrated from ENSG00000087258 to ENSG00000087258 (gene set migration)
Genetic Epilepsy v2.0 MTR Gene migrated from ENSG00000116984 to ENSG00000116984 (gene set migration)
Genetic Epilepsy v2.0 MFSD8 Gene migrated from ENSG00000164073 to ENSG00000164073 (gene set migration)
Genetic Epilepsy v2.0 MACF1 Gene migrated from ENSG00000127603 to ENSG00000127603 (gene set migration)
Genetic Epilepsy v2.0 LIPT2 Gene migrated from ENSG00000175536 to ENSG00000175536 (gene set migration)
Genetic Epilepsy v2.0 KMT2E Gene migrated from ENSG00000005483 to ENSG00000005483 (gene set migration)
Genetic Epilepsy v2.0 GTPBP3 Gene migrated from ENSG00000130299 to ENSG00000130299 (gene set migration)
Genetic Epilepsy v2.0 GTPBP2 Gene migrated from ENSG00000172432 to ENSG00000172432 (gene set migration)
Genetic Epilepsy v2.0 GSS Gene migrated from ENSG00000100983 to ENSG00000100983 (gene set migration)
Genetic Epilepsy v2.0 GLYCTK Gene migrated from ENSG00000168237 to ENSG00000168237 (gene set migration)
Genetic Epilepsy v2.0 FUT8 Gene migrated from ENSG00000033170 to ENSG00000033170 (gene set migration)
Genetic Epilepsy v2.0 FOXRED1 Gene migrated from ENSG00000110074 to ENSG00000110074 (gene set migration)
Genetic Epilepsy v2.0 FH Gene migrated from ENSG00000091483 to ENSG00000091483 (gene set migration)
Genetic Epilepsy v2.0 FGFR3 Gene migrated from ENSG00000068078 to ENSG00000068078 (gene set migration)
Genetic Epilepsy v2.0 FDFT1 Gene migrated from ENSG00000079459 to ENSG00000079459 (gene set migration)
Genetic Epilepsy v2.0 FBXO11 Gene migrated from ENSG00000138081 to ENSG00000138081 (gene set migration)
Genetic Epilepsy v2.0 EIF3F Gene migrated from ENSG00000175390 to ENSG00000175390 (gene set migration)
Genetic Epilepsy v2.0 EFTUD2 Gene migrated from ENSG00000108883 to ENSG00000108883 (gene set migration)
Genetic Epilepsy v2.0 DOLK Gene migrated from ENSG00000175283 to ENSG00000175283 (gene set migration)
Genetic Epilepsy v2.0 SMARCC2 Gene migrated from ENSG00000139613 to ENSG00000139613 (gene set migration)
Genetic Epilepsy v2.0 DHPS Gene migrated from ENSG00000095059 to ENSG00000095059 (gene set migration)
Genetic Epilepsy v2.0 DHDDS Gene migrated from ENSG00000117682 to ENSG00000117682 (gene set migration)
Genetic Epilepsy v2.0 DEGS1 Gene migrated from ENSG00000143753 to ENSG00000143753 (gene set migration)
Genetic Epilepsy v2.0 DLL1 Gene migrated from ENSG00000198719 to ENSG00000198719 (gene set migration)
Genetic Epilepsy v2.0 MTHFS Gene migrated from ENSG00000136371 to ENSG00000136371 (gene set migration)
Genetic Epilepsy v2.0 CUL4B Gene migrated from ENSG00000158290 to ENSG00000158290 (gene set migration)
Genetic Epilepsy v2.0 CTNNA2 Gene migrated from ENSG00000066032 to ENSG00000066032 (gene set migration)
Genetic Epilepsy v2.0 CREBBP Gene migrated from ENSG00000005339 to ENSG00000005339 (gene set migration)
Genetic Epilepsy v2.0 CCDC88A Gene migrated from ENSG00000115355 to ENSG00000115355 (gene set migration)
Genetic Epilepsy v2.0 CACNA1B Gene migrated from ENSG00000148408 to ENSG00000148408 (gene set migration)
Genetic Epilepsy v2.0 ATP6V1A Gene migrated from ENSG00000114573 to ENSG00000114573 (gene set migration)
Genetic Epilepsy v2.0 ATP6V0A2 Gene migrated from ENSG00000185344 to ENSG00000185344 (gene set migration)
Genetic Epilepsy v2.0 SNORD118 Gene migrated from ENSG00000200463 to ENSG00000200463 (gene set migration)
Genetic Epilepsy v2.0 ALKBH8 Gene migrated from ENSG00000137760 to ENSG00000137760 (gene set migration)
Genetic Epilepsy v2.0 ASAH1 Gene migrated from ENSG00000104763 to ENSG00000104763 (gene set migration)
Genetic Epilepsy v2.0 NUP214 Gene migrated from ENSG00000126883 to ENSG00000126883 (gene set migration)
Genetic Epilepsy v2.0 PIGS Gene migrated from ENSG00000087111 to ENSG00000087111 (gene set migration)
Genetic Epilepsy v2.0 GLS Gene migrated from ENSG00000115419 to ENSG00000115419 (gene set migration)
Genetic Epilepsy v2.0 ZNF142 Gene migrated from ENSG00000115568 to ENSG00000115568 (gene set migration)
Genetic Epilepsy v2.0 ZDHHC9 Gene migrated from ENSG00000188706 to ENSG00000188706 (gene set migration)
Genetic Epilepsy v2.0 WDR45B Gene migrated from ENSG00000141580 to ENSG00000141580 (gene set migration)
Genetic Epilepsy v2.0 WARS2 Gene migrated from ENSG00000116874 to ENSG00000116874 (gene set migration)
Genetic Epilepsy v2.0 VPS11 Gene migrated from ENSG00000160695 to ENSG00000160695 (gene set migration)
Genetic Epilepsy v2.0 UFM1 Gene migrated from ENSG00000120686 to ENSG00000120686 (gene set migration)
Genetic Epilepsy v2.0 YWHAG Gene migrated from ENSG00000170027 to ENSG00000170027 (gene set migration)
Genetic Epilepsy v2.0 IQSEC2 Gene migrated from ENSG00000124313 to ENSG00000124313 (gene set migration)
Genetic Epilepsy v2.0 TUBB2A Gene migrated from ENSG00000137267 to ENSG00000137267 (gene set migration)
Genetic Epilepsy v2.0 P4HTM Gene migrated from ENSG00000178467 to ENSG00000178467 (gene set migration)
Genetic Epilepsy v2.0 SCN8A Gene migrated from ENSG00000196876 to ENSG00000196876 (gene set migration)
Genetic Epilepsy v2.0 NUS1 Gene migrated from ENSG00000153989 to ENSG00000153989 (gene set migration)
Genetic Epilepsy v2.0 UGP2 Gene migrated from ENSG00000169764 to ENSG00000169764 (gene set migration)
Genetic Epilepsy v2.0 ABAT Gene migrated from ENSG00000183044 to ENSG00000183044 (gene set migration)
Genetic Epilepsy v2.0 ASTN1 Gene migrated from ENSG00000152092 to ENSG00000152092 (gene set migration)
Genetic Epilepsy v2.0 BRAT1 Gene migrated from ENSG00000106009 to ENSG00000106009 (gene set migration)
Genetic Epilepsy v2.0 DMXL2 Gene migrated from ENSG00000104093 to ENSG00000104093 (gene set migration)
Genetic Epilepsy v2.0 MED17 Gene migrated from ENSG00000042429 to ENSG00000042429 (gene set migration)
Genetic Epilepsy v2.0 TBCD Gene migrated from ENSG00000141556 to ENSG00000141556 (gene set migration)
Genetic Epilepsy v2.0 NEUROD2 Gene migrated from ENSG00000171532 to ENSG00000171532 (gene set migration)
Genetic Epilepsy v2.0 GOT2 Gene migrated from ENSG00000125166 to ENSG00000125166 (gene set migration)
Genetic Epilepsy v2.0 TSFM Gene migrated from ENSG00000123297 to ENSG00000123297 (gene set migration)
Genetic Epilepsy v2.0 HDAC3 Gene migrated from ENSG00000171720 to ENSG00000171720 (gene set migration)
Genetic Epilepsy v2.0 TSEN2 Gene migrated from ENSG00000154743 to ENSG00000154743 (gene set migration)
Genetic Epilepsy v2.0 AFF3 Gene migrated from ENSG00000144218 to ENSG00000144218 (gene set migration)
Genetic Epilepsy v2.0 TRRAP Gene migrated from ENSG00000196367 to ENSG00000196367 (gene set migration)
Genetic Epilepsy v2.0 NTRK2 Gene migrated from ENSG00000148053 to ENSG00000148053 (gene set migration)
Genetic Epilepsy v2.0 PHACTR1 Gene migrated from ENSG00000112137 to ENSG00000112137 (gene set migration)
Genetic Epilepsy v2.0 GABRB1 Gene migrated from ENSG00000163288 to ENSG00000163288 (gene set migration)
Genetic Epilepsy v2.0 GABRA2 Gene migrated from ENSG00000151834 to ENSG00000151834 (gene set migration)
Genetic Epilepsy v2.0 CPLX1 Gene migrated from ENSG00000168993 to ENSG00000168993 (gene set migration)
Genetic Epilepsy v2.0 RNF13 Gene migrated from ENSG00000082996 to ENSG00000082996 (gene set migration)
Genetic Epilepsy v2.0 CAD Gene migrated from ENSG00000084774 to ENSG00000084774 (gene set migration)
Genetic Epilepsy v2.0 TRPM6 Gene migrated from ENSG00000119121 to ENSG00000119121 (gene set migration)
Genetic Epilepsy v2.0 PARS2 Gene migrated from ENSG00000162396 to ENSG00000162396 (gene set migration)
Genetic Epilepsy v2.0 TIMM50 Gene migrated from ENSG00000105197 to ENSG00000105197 (gene set migration)
Genetic Epilepsy v2.0 NCDN Gene migrated from ENSG00000020129 to ENSG00000020129 (gene set migration)
Genetic Epilepsy v2.0 SETD5 Gene migrated from ENSG00000168137 to ENSG00000168137 (gene set migration)
Genetic Epilepsy v2.0 TDP2 Gene migrated from ENSG00000111802 to ENSG00000111802 (gene set migration)
Genetic Epilepsy v2.0 CACNA1E Gene migrated from ENSG00000198216 to ENSG00000198216 (gene set migration)
Genetic Epilepsy v2.0 CACNA1G Gene migrated from ENSG00000006283 to ENSG00000006283 (gene set migration)
Genetic Epilepsy v2.0 TANGO2 Gene migrated from ENSG00000183597 to ENSG00000183597 (gene set migration)
Genetic Epilepsy v2.0 CHRNA2 Gene migrated from ENSG00000120903 to ENSG00000120903 (gene set migration)
Genetic Epilepsy v2.0 HCN1 Gene migrated from ENSG00000164588 to ENSG00000164588 (gene set migration)
Genetic Epilepsy v2.0 TUBGCP6 Gene migrated from ENSG00000128159 to ENSG00000128159 (gene set migration)
Genetic Epilepsy v2.0 SMS Gene migrated from ENSG00000102172 to ENSG00000102172 (gene set migration)
Genetic Epilepsy v2.0 UMPS Gene migrated from ENSG00000114491 to ENSG00000114491 (gene set migration)
Genetic Epilepsy v2.0 SMARCA2 Gene migrated from ENSG00000080503 to ENSG00000080503 (gene set migration)
Genetic Epilepsy v2.0 NOVA2 Gene migrated from ENSG00000104967 to ENSG00000104967 (gene set migration)
Genetic Epilepsy v2.0 GRIN2A Gene migrated from ENSG00000183454 to ENSG00000183454 (gene set migration)
Genetic Epilepsy v2.0 FZR1 Gene migrated from ENSG00000105325 to ENSG00000105325 (gene set migration)
Genetic Epilepsy v2.0 SLC25A12 Gene migrated from ENSG00000115840 to ENSG00000115840 (gene set migration)
Genetic Epilepsy v2.0 SLC25A22 Gene migrated from ENSG00000177542 to ENSG00000177542 (gene set migration)
Genetic Epilepsy v2.0 EXT2 Gene migrated from ENSG00000151348 to ENSG00000151348 (gene set migration)
Genetic Epilepsy v2.0 TRAK1 Gene migrated from ENSG00000182606 to ENSG00000182606 (gene set migration)
Genetic Epilepsy v2.0 PLXNA1 Gene migrated from ENSG00000114554 to ENSG00000114554 (gene set migration)
Genetic Epilepsy v2.0 VARS2 Gene migrated from ENSG00000137411 to ENSG00000137411 (gene set migration)
Genetic Epilepsy v2.0 CHD4 Gene migrated from ENSG00000111642 to ENSG00000111642 (gene set migration)
Genetic Epilepsy v2.0 CARS2 Gene migrated from ENSG00000134905 to ENSG00000134905 (gene set migration)
Genetic Epilepsy v2.0 BPTF Gene migrated from ENSG00000171634 to ENSG00000171634 (gene set migration)
Genetic Epilepsy v2.0 SGSH Gene migrated from ENSG00000181523 to ENSG00000181523 (gene set migration)
Genetic Epilepsy v2.0 PPFIBP1 Gene migrated from ENSG00000110841 to ENSG00000110841 (gene set migration)
Genetic Epilepsy v2.0 GRIA2 Gene migrated from ENSG00000120251 to ENSG00000120251 (gene set migration)
Genetic Epilepsy v2.0 HECTD1 Gene migrated from ENSG00000092148 to ENSG00000092148 (gene set migration)
Genetic Epilepsy v2.0 GABRA5 Gene migrated from ENSG00000186297 to ENSG00000186297 (gene set migration)
Genetic Epilepsy v2.0 TAF8 Gene migrated from ENSG00000137413 to ENSG00000137413 (gene set migration)
Genetic Epilepsy v2.0 ATP1A3 Gene migrated from ENSG00000105409 to ENSG00000105409 (gene set migration)
Genetic Epilepsy v2.0 PIGA Gene migrated from ENSG00000165195 to ENSG00000165195 (gene set migration)
Genetic Epilepsy v2.0 CYFIP2 Gene migrated from ENSG00000055163 to ENSG00000055163 (gene set migration)
Genetic Epilepsy v2.0 CACNA1D Gene migrated from ENSG00000157388 to ENSG00000157388 (gene set migration)
Genetic Epilepsy v2.0 ADAM22 Gene migrated from ENSG00000008277 to ENSG00000008277 (gene set migration)
Genetic Epilepsy v2.0 ALG14 Gene migrated from ENSG00000172339 to ENSG00000172339 (gene set migration)
Genetic Epilepsy v2.0 ARFGEF1 Gene migrated from ENSG00000066777 to ENSG00000066777 (gene set migration)
Genetic Epilepsy v2.0 BCAS3 Gene migrated from ENSG00000141376 to ENSG00000141376 (gene set migration)
Genetic Epilepsy v2.0 EPG5 Gene migrated from ENSG00000152223 to ENSG00000152223 (gene set migration)
Genetic Epilepsy v2.0 ATP1A2 Gene migrated from ENSG00000018625 to ENSG00000018625 (gene set migration)
Genetic Epilepsy v2.0 PLAA Gene migrated from ENSG00000137055 to ENSG00000137055 (gene set migration)
Genetic Epilepsy v2.0 PIDD1 Gene migrated from ENSG00000177595 to ENSG00000177595 (gene set migration)
Genetic Epilepsy v2.0 CLDN5 Gene migrated from ENSG00000184113 to ENSG00000184113 (gene set migration)
Genetic Epilepsy v2.0 ZNHIT3 Gene migrated from ENSG00000273611 to ENSG00000273611 (gene set migration)
Genetic Epilepsy v2.0 CLPB Gene migrated from ENSG00000162129 to ENSG00000162129 (gene set migration)
Genetic Epilepsy v2.0 TMTC3 Gene migrated from ENSG00000139324 to ENSG00000139324 (gene set migration)
Genetic Epilepsy v2.0 WDR26 Gene migrated from ENSG00000162923 to ENSG00000162923 (gene set migration)
Genetic Epilepsy v2.0 ZMYND11 Gene migrated from ENSG00000015171 to ENSG00000015171 (gene set migration)
Genetic Epilepsy v2.0 TRAPPC6B Gene migrated from ENSG00000182400 to ENSG00000182400 (gene set migration)
Genetic Epilepsy v2.0 KCNN2 Gene migrated from ENSG00000080709 to ENSG00000080709 (gene set migration)
Genetic Epilepsy v2.0 TRIM8 Gene migrated from ENSG00000171206 to ENSG00000171206 (gene set migration)
Genetic Epilepsy v2.0 ADGRG1 Gene migrated from ENSG00000205336 to ENSG00000205336 (gene set migration)
Genetic Epilepsy v2.0 QDPR Gene migrated from ENSG00000151552 to ENSG00000151552 (gene set migration)
Genetic Epilepsy v2.0 FGF12 Gene migrated from ENSG00000114279 to ENSG00000114279 (gene set migration)
Genetic Epilepsy v2.0 KIF5A Gene migrated from ENSG00000155980 to ENSG00000155980 (gene set migration)
Genetic Epilepsy v2.0 COX11 Gene migrated from ENSG00000166260 to ENSG00000166260 (gene set migration)
Genetic Epilepsy v2.0 TUBB4A Gene migrated from ENSG00000104833 to ENSG00000104833 (gene set migration)
Genetic Epilepsy v2.0 KCNK4 Gene migrated from ENSG00000182450 to ENSG00000182450 (gene set migration)
Genetic Epilepsy v2.0 SUOX Gene migrated from ENSG00000139531 to ENSG00000139531 (gene set migration)
Genetic Epilepsy v2.0 SIK1 Gene migrated from ENSG00000142178 to ENSG00000142178 (gene set migration)
Genetic Epilepsy v2.0 SHH Gene migrated from ENSG00000164690 to ENSG00000164690 (gene set migration)
Genetic Epilepsy v2.0 FASTKD2 Gene migrated from ENSG00000118246 to ENSG00000118246 (gene set migration)
Genetic Epilepsy v2.0 SAMHD1 Gene migrated from ENSG00000101347 to ENSG00000101347 (gene set migration)
Genetic Epilepsy v2.0 ROGDI Gene migrated from ENSG00000067836 to ENSG00000067836 (gene set migration)
Genetic Epilepsy v2.0 LNPK Gene migrated from ENSG00000144320 to ENSG00000144320 (gene set migration)
Genetic Epilepsy v2.0 RARS2 Gene migrated from ENSG00000146282 to ENSG00000146282 (gene set migration)
Genetic Epilepsy v2.0 PTS Gene migrated from ENSG00000150787 to ENSG00000150787 (gene set migration)
Genetic Epilepsy v2.0 DHCR24 Gene migrated from ENSG00000116133 to ENSG00000116133 (gene set migration)
Genetic Epilepsy v2.0 KMT2D Gene migrated from ENSG00000167548 to ENSG00000167548 (gene set migration)
Genetic Epilepsy v2.0 HCFC1 Gene migrated from ENSG00000172534 to ENSG00000172534 (gene set migration)
Genetic Epilepsy v2.0 PEX6 Gene migrated from ENSG00000124587 to ENSG00000124587 (gene set migration)
Genetic Epilepsy v2.0 EIF2S3 Gene migrated from ENSG00000130741 to ENSG00000130741 (gene set migration)
Genetic Epilepsy v2.0 MED13L Gene migrated from ENSG00000123066 to ENSG00000123066 (gene set migration)
Genetic Epilepsy v2.0 OPHN1 Gene migrated from ENSG00000079482 to ENSG00000079482 (gene set migration)
Genetic Epilepsy v2.0 PTEN Gene migrated from ENSG00000171862 to ENSG00000171862 (gene set migration)
Genetic Epilepsy v2.0 MAP1B Gene migrated from ENSG00000131711 to ENSG00000131711 (gene set migration)
Genetic Epilepsy v2.0 LIG3 Gene migrated from ENSG00000005156 to ENSG00000005156 (gene set migration)
Genetic Epilepsy v2.0 NR4A2 Gene migrated from ENSG00000153234 to ENSG00000153234 (gene set migration)
Genetic Epilepsy v2.0 CSTB Gene migrated from ENSG00000160213 to ENSG00000160213 (gene set migration)
Genetic Epilepsy v2.0 KCNC2 Gene migrated from ENSG00000166006 to ENSG00000166006 (gene set migration)
Genetic Epilepsy v2.0 ATP2B1 Gene migrated from ENSG00000070961 to ENSG00000070961 (gene set migration)
Genetic Epilepsy v2.0 MDH2 Gene migrated from ENSG00000146701 to ENSG00000146701 (gene set migration)
Genetic Epilepsy v2.0 TIAM1 Gene migrated from ENSG00000156299 to ENSG00000156299 (gene set migration)
Genetic Epilepsy v2.0 DLG4 Gene migrated from ENSG00000132535 to ENSG00000132535 (gene set migration)
Genetic Epilepsy v2.0 PPP2CA Gene migrated from ENSG00000113575 to ENSG00000113575 (gene set migration)
Genetic Epilepsy v2.0 KCNT2 Gene migrated from ENSG00000162687 to ENSG00000162687 (gene set migration)
Genetic Epilepsy v2.0 RMND1 Gene migrated from ENSG00000155906 to ENSG00000155906 (gene set migration)
Genetic Epilepsy v2.0 KCNH1 Gene migrated from ENSG00000143473 to ENSG00000143473 (gene set migration)
Genetic Epilepsy v2.0 ASNS Gene migrated from ENSG00000070669 to ENSG00000070669 (gene set migration)
Genetic Epilepsy v2.0 NAGLU Gene migrated from ENSG00000108784 to ENSG00000108784 (gene set migration)
Genetic Epilepsy v2.0 OSGEP Gene migrated from ENSG00000092094 to ENSG00000092094 (gene set migration)
Genetic Epilepsy v2.0 ATP6V1B2 Gene migrated from ENSG00000147416 to ENSG00000147416 (gene set migration)
Genetic Epilepsy v2.0 PRPF8 Gene migrated from ENSG00000174231 to ENSG00000174231 (gene set migration)
Genetic Epilepsy v2.0 PIK3CA Gene migrated from ENSG00000121879 to ENSG00000121879 (gene set migration)
Genetic Epilepsy v2.0 ASH1L Gene migrated from ENSG00000116539 to ENSG00000116539 (gene set migration)
Genetic Epilepsy v2.0 CLCN4 Gene migrated from ENSG00000073464 to ENSG00000073464 (gene set migration)
Genetic Epilepsy v2.0 KCNA1 Gene migrated from ENSG00000111262 to ENSG00000111262 (gene set migration)
Genetic Epilepsy v2.0 RALA Gene migrated from ENSG00000006451 to ENSG00000006451 (gene set migration)
Genetic Epilepsy v2.0 ARG1 Gene migrated from ENSG00000118520 to ENSG00000118520 (gene set migration)
Genetic Epilepsy v2.0 ATP1A1 Gene migrated from ENSG00000163399 to ENSG00000163399 (gene set migration)
Genetic Epilepsy v2.0 ATN1 Gene migrated from ENSG00000111676 to ENSG00000111676 (gene set migration)
Genetic Epilepsy v2.0 ELOVL4 Gene migrated from ENSG00000118402 to ENSG00000118402 (gene set migration)
Genetic Epilepsy v2.0 GNAI1 Gene migrated from ENSG00000127955 to ENSG00000127955 (gene set migration)
Genetic Epilepsy v2.0 MED27 Gene migrated from ENSG00000160563 to ENSG00000160563 (gene set migration)
Genetic Epilepsy v2.0 PAK1 Gene migrated from ENSG00000149269 to ENSG00000149269 (gene set migration)
Genetic Epilepsy v2.0 AP4B1 Gene migrated from ENSG00000134262 to ENSG00000134262 (gene set migration)
Genetic Epilepsy v2.0 KCNQ5 Gene migrated from ENSG00000185760 to ENSG00000185760 (gene set migration)
Genetic Epilepsy v2.0 APC2 Gene migrated from ENSG00000115266 to ENSG00000115266 (gene set migration)
Genetic Epilepsy v2.0 DENND5A Gene migrated from ENSG00000184014 to ENSG00000184014 (gene set migration)
Genetic Epilepsy v2.0 PACS2 Gene migrated from ENSG00000179364 to ENSG00000179364 (gene set migration)
Genetic Epilepsy v2.0 FKTN Gene migrated from ENSG00000106692 to ENSG00000106692 (gene set migration)
Genetic Epilepsy v2.0 CHD5 Gene migrated from ENSG00000116254 to ENSG00000116254 (gene set migration)
Genetic Epilepsy v2.0 COG7 Gene migrated from ENSG00000168434 to ENSG00000168434 (gene set migration)
Genetic Epilepsy v2.0 CIC Gene migrated from ENSG00000079432 to ENSG00000079432 (gene set migration)
Genetic Epilepsy v2.0 AP2M1 Gene migrated from ENSG00000161203 to ENSG00000161203 (gene set migration)
Genetic Epilepsy v2.0 ACTG1 Gene migrated from ENSG00000184009 to ENSG00000184009 (gene set migration)
Genetic Epilepsy v2.0 BCKDHB Gene migrated from ENSG00000083123 to ENSG00000083123 (gene set migration)
Genetic Epilepsy v2.0 TUBB3 Gene migrated from ENSG00000258947 to ENSG00000258947 (gene set migration)
Genetic Epilepsy v2.0 SLC1A3 Gene migrated from ENSG00000079215 to ENSG00000079215 (gene set migration)
Genetic Epilepsy v2.0 GNB1 Gene migrated from ENSG00000078369 to ENSG00000078369 (gene set migration)
Genetic Epilepsy v2.0 MAST1 Gene migrated from ENSG00000105613 to ENSG00000105613 (gene set migration)
Genetic Epilepsy v2.0 BSCL2 Gene migrated from ENSG00000168000 to ENSG00000168000 (gene set migration)
Genetic Epilepsy v2.0 LAMA2 Gene migrated from ENSG00000196569 to ENSG00000196569 (gene set migration)
Genetic Epilepsy v2.0 BRAF Gene migrated from ENSG00000157764 to ENSG00000157764 (gene set migration)
Genetic Epilepsy v2.0 CLTC Gene migrated from ENSG00000141367 to ENSG00000141367 (gene set migration)
Genetic Epilepsy v2.0 NEDD4L Gene migrated from ENSG00000049759 to ENSG00000049759 (gene set migration)
Genetic Epilepsy v2.0 KCNT1 Gene migrated from ENSG00000107147 to ENSG00000107147 (gene set migration)
Genetic Epilepsy v2.0 CNNM2 Gene migrated from ENSG00000148842 to ENSG00000148842 (gene set migration)
Genetic Epilepsy v2.0 AKT1 Gene migrated from ENSG00000142208 to ENSG00000142208 (gene set migration)
Genetic Epilepsy v2.0 ACOX1 Gene migrated from ENSG00000161533 to ENSG00000161533 (gene set migration)
Genetic Epilepsy v2.0 KCNJ4 Gene migrated from ENSG00000168135 to ENSG00000168135 (gene set migration)
Genetic Epilepsy v2.0 CSNK2B Gene migrated from ENSG00000204435 to ENSG00000204435 (gene set migration)
Genetic Epilepsy v2.0 NRDC Gene migrated from ENSG00000078618 to ENSG00000078618 (gene set migration)
Genetic Epilepsy v2.0 CDKL5 Gene migrated from ENSG00000008086 to ENSG00000008086 (gene set migration)
Genetic Epilepsy v2.0 ZFHX3 Gene migrated from ENSG00000140836 to ENSG00000140836 (gene set migration)
Genetic Epilepsy v2.0 CELSR1 Gene migrated from ENSG00000075275 to ENSG00000075275 (gene set migration)
Genetic Epilepsy v2.0 PGBD5 Gene migrated from ENSG00000177614 to ENSG00000177614 (gene set migration)
Genetic Epilepsy v2.0 STXBP1 Gene migrated from ENSG00000136854 to ENSG00000136854 (gene set migration)
Genetic Epilepsy v2.0 VPS51 Gene migrated from ENSG00000149823 to ENSG00000149823 (gene set migration)
Genetic Epilepsy v2.0 BAIAP2 Gene migrated from ENSG00000175866 to ENSG00000175866 (gene set migration)
Genetic Epilepsy v2.0 ATP9A Gene migrated from ENSG00000054793 to ENSG00000054793 (gene set migration)
Genetic Epilepsy v2.0 SCYL2 Gene migrated from ENSG00000136021 to ENSG00000136021 (gene set migration)
Genetic Epilepsy v2.0 EMC10 Gene migrated from ENSG00000161671 to ENSG00000161671 (gene set migration)
Genetic Epilepsy v2.0 SELENOI Gene migrated from ENSG00000138018 to ENSG00000138018 (gene set migration)
Genetic Epilepsy v2.0 MT-TF Gene migrated from ENSG00000210049 to ENSG00000210049 (gene set migration)
Genetic Epilepsy v2.0 MT-TH Gene migrated from ENSG00000210176 to ENSG00000210176 (gene set migration)
Genetic Epilepsy v2.0 MT-TG Gene migrated from ENSG00000210164 to ENSG00000210164 (gene set migration)
Genetic Epilepsy v2.0 MT-ND5 Gene migrated from ENSG00000198786 to ENSG00000198786 (gene set migration)
Genetic Epilepsy v2.0 SLC39A8 Gene migrated from ENSG00000138821 to ENSG00000138821 (gene set migration)
Genetic Epilepsy v2.0 MT-ND4 Gene migrated from ENSG00000198886 to ENSG00000198886 (gene set migration)
Genetic Epilepsy v2.0 MT-ND3 Gene migrated from ENSG00000198840 to ENSG00000198840 (gene set migration)
Genetic Epilepsy v2.0 MT-CYB Gene migrated from ENSG00000198727 to ENSG00000198727 (gene set migration)
Genetic Epilepsy v2.0 MT-CO2 Gene migrated from ENSG00000198712 to ENSG00000198712 (gene set migration)
Genetic Epilepsy v2.0 TMEM161B Gene migrated from ENSG00000164180 to ENSG00000164180 (gene set migration)
Genetic Epilepsy v2.0 MT-CO1 Gene migrated from ENSG00000198804 to ENSG00000198804 (gene set migration)
Genetic Epilepsy v2.0 DNM1L Gene migrated from ENSG00000087470 to ENSG00000087470 (gene set migration)
Genetic Epilepsy v2.0 DNM1 Gene migrated from ENSG00000106976 to ENSG00000106976 (gene set migration)
Genetic Epilepsy v2.0 DNAJC5 Gene migrated from ENSG00000101152 to ENSG00000101152 (gene set migration)
Genetic Epilepsy v2.0 RALGAPA1 Gene migrated from ENSG00000174373 to ENSG00000174373 (gene set migration)
Genetic Epilepsy v2.0 ADGRV1 Gene migrated from ENSG00000164199 to ENSG00000164199 (gene set migration)
Genetic Epilepsy v2.0 TRAF7 Gene migrated from ENSG00000131653 to ENSG00000131653 (gene set migration)
Genetic Epilepsy v2.0 MDGA2 Gene migrated from ENSG00000139915 to ENSG00000139915 (gene set migration)
Genetic Epilepsy v2.0 TMEM167A Gene migrated from ENSG00000174695 to ENSG00000174695 (gene set migration)
Genetic Epilepsy v2.0 NCOR1 Gene migrated from ENSG00000141027 to ENSG00000141027 (gene set migration)
Genetic Epilepsy v2.0 ALDH4A1 Gene migrated from ENSG00000159423 to ENSG00000159423 (gene set migration)
Genetic Epilepsy v2.0 PRRT2 Gene migrated from ENSG00000167371 to ENSG00000167371 (gene set migration)
Genetic Epilepsy v2.0 SAMD12 Gene migrated from ENSG00000177570 to ENSG00000177570 (gene set migration)
Genetic Epilepsy v2.0 NSF Gene migrated from ENSG00000073969 to ENSG00000073969 (gene set migration)
Genetic Epilepsy v2.0 RNF2 Gene migrated from ENSG00000121481 to ENSG00000121481 (gene set migration)
Genetic Epilepsy v2.0 CSMD3 Gene migrated from ENSG00000164796 to ENSG00000164796 (gene set migration)
Genetic Epilepsy v2.0 BORCS5 Gene migrated from ENSG00000165714 to ENSG00000165714 (gene set migration)
Genetic Epilepsy v2.0 CCDC186 Gene migrated from ENSG00000165813 to ENSG00000165813 (gene set migration)
Genetic Epilepsy v2.0 BLOC1S1 Gene migrated from ENSG00000135441 to ENSG00000135441 (gene set migration)
Genetic Epilepsy v2.0 DENND2B Gene symbol changed from ST5 to DENND2B during gene set migration (ENSG00000166444 -> ENSG00000166444)
Genetic Epilepsy v2.0 BSN Gene migrated from ENSG00000164061 to ENSG00000164061 (gene set migration)
Genetic Epilepsy v2.0 TMEM63B Gene migrated from ENSG00000137216 to ENSG00000137216 (gene set migration)
Genetic Epilepsy v2.0 LGI1 Gene migrated from ENSG00000108231 to ENSG00000108231 (gene set migration)
Genetic Epilepsy v2.0 ELFN1 Gene migrated from ENSG00000225968 to ENSG00000225968 (gene set migration)
Genetic Epilepsy v2.0 CACNA1A Gene migrated from ENSG00000141837 to ENSG00000141837 (gene set migration)
Genetic Epilepsy v2.0 HID1 Gene migrated from ENSG00000167861 to ENSG00000167861 (gene set migration)
Genetic Epilepsy v2.0 KCNA6 Gene migrated from ENSG00000151079 to ENSG00000151079 (gene set migration)
Genetic Epilepsy v2.0 H3-3B Gene symbol changed from H3F3B to H3-3B during gene set migration (ENSG00000132475 -> ENSG00000132475)
Genetic Epilepsy v2.0 GTF3C3 Gene migrated from ENSG00000119041 to ENSG00000119041 (gene set migration)
Genetic Epilepsy v2.0 PLK1 Gene migrated from ENSG00000166851 to ENSG00000166851 (gene set migration)
Genetic Epilepsy v2.0 GRIN2B Gene migrated from ENSG00000273079 to ENSG00000273079 (gene set migration)
Genetic Epilepsy v2.0 ATP11A Gene migrated from ENSG00000068650 to ENSG00000068650 (gene set migration)
Genetic Epilepsy v2.0 CELF4 Gene migrated from ENSG00000101489 to ENSG00000101489 (gene set migration)
Genetic Epilepsy v2.0 KMT2C Gene migrated from ENSG00000055609 to ENSG00000055609 (gene set migration)
Genetic Epilepsy v2.0 PIGW Gene migrated from ENSG00000277161 to ENSG00000277161 (gene set migration)
Genetic Epilepsy v2.0 DDX39B Gene migrated from ENSG00000198563 to ENSG00000198563 (gene set migration)
Genetic Epilepsy v2.0 COQ5 Gene migrated from ENSG00000110871 to ENSG00000110871 (gene set migration)
Genetic Epilepsy v2.0 PMM2 Gene migrated from ENSG00000140650 to ENSG00000140650 (gene set migration)
Genetic Epilepsy v2.0 PIK3R2 Gene migrated from ENSG00000105647 to ENSG00000105647 (gene set migration)
Genetic Epilepsy v2.0 PHGDH Gene migrated from ENSG00000092621 to ENSG00000092621 (gene set migration)
Genetic Epilepsy v2.0 PEX3 Gene migrated from ENSG00000034693 to ENSG00000034693 (gene set migration)
Genetic Epilepsy v2.0 SGCE Gene migrated from ENSG00000127990 to ENSG00000127990 (gene set migration)
Genetic Epilepsy v2.0 RING1 Gene migrated from ENSG00000204227 to ENSG00000204227 (gene set migration)
Genetic Epilepsy v2.0 GNB5 Gene migrated from ENSG00000069966 to ENSG00000069966 (gene set migration)
Genetic Epilepsy v2.0 MARK2 Gene migrated from ENSG00000072518 to ENSG00000072518 (gene set migration)
Genetic Epilepsy v2.0 NOTCH3 Gene migrated from ENSG00000074181 to ENSG00000074181 (gene set migration)
Genetic Epilepsy v2.0 UBE3A Gene migrated from ENSG00000114062 to ENSG00000114062 (gene set migration)
Genetic Epilepsy v2.0 TUBB2B Gene migrated from ENSG00000137285 to ENSG00000137285 (gene set migration)
Genetic Epilepsy v2.0 TUBB Gene migrated from ENSG00000196230 to ENSG00000196230 (gene set migration)
Genetic Epilepsy v2.0 TSEN54 Gene migrated from ENSG00000182173 to ENSG00000182173 (gene set migration)
Genetic Epilepsy v2.0 TSC2 Gene migrated from ENSG00000103197 to ENSG00000103197 (gene set migration)
Genetic Epilepsy v2.0 TPP1 Gene migrated from ENSG00000166340 to ENSG00000166340 (gene set migration)
Genetic Epilepsy v2.0 TCF4 Gene migrated from ENSG00000196628 to ENSG00000196628 (gene set migration)
Genetic Epilepsy v2.0 TBC1D24 Gene migrated from ENSG00000162065 to ENSG00000162065 (gene set migration)
Genetic Epilepsy v2.0 KCNH5 Gene migrated from ENSG00000140015 to ENSG00000140015 (gene set migration)
Genetic Epilepsy v2.0 WDR45 Gene migrated from ENSG00000196998 to ENSG00000196998 (gene set migration)
Genetic Epilepsy v2.0 MAST4 Gene migrated from ENSG00000069020 to ENSG00000069020 (gene set migration)
Genetic Epilepsy v2.0 WDR73 Gene migrated from ENSG00000177082 to ENSG00000177082 (gene set migration)
Genetic Epilepsy v2.0 VPS50 Gene migrated from ENSG00000004766 to ENSG00000004766 (gene set migration)
Genetic Epilepsy v2.0 ATP2B2 Gene migrated from ENSG00000157087 to ENSG00000157087 (gene set migration)
Genetic Epilepsy v2.0 ANO4 Gene migrated from ENSG00000151572 to ENSG00000151572 (gene set migration)
Genetic Epilepsy v2.0 FLVCR1 Gene migrated from ENSG00000162769 to ENSG00000162769 (gene set migration)
Genetic Epilepsy v2.0 RAB18 Gene migrated from ENSG00000099246 to ENSG00000099246 (gene set migration)
Genetic Epilepsy v2.0 DEPDC5 Gene migrated from ENSG00000100150 to ENSG00000100150 (gene set migration)
Genetic Epilepsy v2.0 PIP5K1C Gene migrated from ENSG00000186111 to ENSG00000186111 (gene set migration)
Genetic Epilepsy v2.0 RAB5C Gene migrated from ENSG00000108774 to ENSG00000108774 (gene set migration)
Genetic Epilepsy v2.0 ATP13A2 Gene migrated from ENSG00000159363 to ENSG00000159363 (gene set migration)
Genetic Epilepsy v2.0 ZNF335 Gene migrated from ENSG00000198026 to ENSG00000198026 (gene set migration)
Genetic Epilepsy v2.0 USP18 Gene migrated from ENSG00000184979 to ENSG00000184979 (gene set migration)
Genetic Epilepsy v2.0 TUBGCP2 Gene migrated from ENSG00000130640 to ENSG00000130640 (gene set migration)
Genetic Epilepsy v2.0 RNF113A Gene migrated from ENSG00000125352 to ENSG00000125352 (gene set migration)
Genetic Epilepsy v2.0 PGM2L1 Gene migrated from ENSG00000165434 to ENSG00000165434 (gene set migration)
Genetic Epilepsy v2.0 GLRA2 Gene migrated from ENSG00000101958 to ENSG00000101958 (gene set migration)
Genetic Epilepsy v2.0 RARS1 Gene symbol changed from RARS to RARS1 during gene set migration (ENSG00000113643 -> ENSG00000113643)
Genetic Epilepsy v2.0 MINPP1 Gene migrated from ENSG00000107789 to ENSG00000107789 (gene set migration)
Genetic Epilepsy v2.0 GPRC5B Gene migrated from ENSG00000167191 to ENSG00000167191 (gene set migration)
Genetic Epilepsy v2.0 PEX1 Gene migrated from ENSG00000127980 to ENSG00000127980 (gene set migration)
Genetic Epilepsy v2.0 PDHX Gene migrated from ENSG00000110435 to ENSG00000110435 (gene set migration)
Genetic Epilepsy v2.0 PDHA1 Gene migrated from ENSG00000131828 to ENSG00000131828 (gene set migration)
Genetic Epilepsy v2.0 PCCB Gene migrated from ENSG00000114054 to ENSG00000114054 (gene set migration)
Genetic Epilepsy v2.0 OTUD6B Gene migrated from ENSG00000155100 to ENSG00000155100 (gene set migration)
Genetic Epilepsy v2.0 OCLN Gene migrated from ENSG00000197822 to ENSG00000197822 (gene set migration)
Genetic Epilepsy v2.0 NSD1 Gene migrated from ENSG00000165671 to ENSG00000165671 (gene set migration)
Genetic Epilepsy v2.0 NDUFV1 Gene migrated from ENSG00000167792 to ENSG00000167792 (gene set migration)
Genetic Epilepsy v2.0 NDUFS8 Gene migrated from ENSG00000110717 to ENSG00000110717 (gene set migration)
Genetic Epilepsy v2.0 RNU6ATAC Gene migrated from ENSG00000221676 to ENSG00000221676 (gene set migration)
Genetic Epilepsy v2.0 KDM5C Gene migrated from ENSG00000126012 to ENSG00000126012 (gene set migration)
Genetic Epilepsy v2.0 PURA Gene migrated from ENSG00000185129 to ENSG00000185129 (gene set migration)
Genetic Epilepsy v2.0 CCT3 Gene migrated from ENSG00000163468 to ENSG00000163468 (gene set migration)
Genetic Epilepsy v2.0 FARS2 Gene migrated from ENSG00000145982 to ENSG00000145982 (gene set migration)
Genetic Epilepsy v2.0 TK2 Gene migrated from ENSG00000166548 to ENSG00000166548 (gene set migration)
Genetic Epilepsy v2.0 EIF2B3 Gene migrated from ENSG00000070785 to ENSG00000070785 (gene set migration)
Genetic Epilepsy v2.0 EIF2B1 Gene migrated from ENSG00000111361 to ENSG00000111361 (gene set migration)
Genetic Epilepsy v2.0 EP400 Gene migrated from ENSG00000183495 to ENSG00000183495 (gene set migration)
Genetic Epilepsy v2.0 COL3A1 Gene migrated from ENSG00000168542 to ENSG00000168542 (gene set migration)
Genetic Epilepsy v2.0 UBR5 Gene migrated from ENSG00000104517 to ENSG00000104517 (gene set migration)
Genetic Epilepsy v2.0 CHD1 Gene migrated from ENSG00000153922 to ENSG00000153922 (gene set migration)
Genetic Epilepsy v2.0 TEFM Gene migrated from ENSG00000172171 to ENSG00000172171 (gene set migration)
Genetic Epilepsy v2.0 SRCAP Gene migrated from ENSG00000080603 to ENSG00000080603 (gene set migration)
Genetic Epilepsy v2.0 SART3 Gene migrated from ENSG00000075856 to ENSG00000075856 (gene set migration)
Genetic Epilepsy v2.0 RPH3A Gene migrated from ENSG00000089169 to ENSG00000089169 (gene set migration)
Genetic Epilepsy v2.0 SHANK3 Gene migrated from ENSG00000251322 to ENSG00000251322 (gene set migration)
Genetic Epilepsy v2.0 AJAP1 Gene migrated from ENSG00000196581 to ENSG00000196581 (gene set migration)
Genetic Epilepsy v2.0 NDUFA1 Gene migrated from ENSG00000125356 to ENSG00000125356 (gene set migration)
Genetic Epilepsy v2.0 MTOR Gene migrated from ENSG00000198793 to ENSG00000198793 (gene set migration)
Genetic Epilepsy v2.0 MTHFR Gene migrated from ENSG00000177000 to ENSG00000177000 (gene set migration)
Genetic Epilepsy v2.0 MMACHC Gene migrated from ENSG00000132763 to ENSG00000132763 (gene set migration)
Genetic Epilepsy v2.0 MLC1 Gene migrated from ENSG00000100427 to ENSG00000100427 (gene set migration)
Genetic Epilepsy v2.0 MECP2 Gene migrated from ENSG00000169057 to ENSG00000169057 (gene set migration)
Genetic Epilepsy v2.0 MBOAT7 Gene migrated from ENSG00000125505 to ENSG00000125505 (gene set migration)
Genetic Epilepsy v2.0 DYNC1H1 Gene migrated from ENSG00000197102 to ENSG00000197102 (gene set migration)
Genetic Epilepsy v2.0 MAP2K2 Gene migrated from ENSG00000126934 to ENSG00000126934 (gene set migration)
Genetic Epilepsy v2.0 MAF Gene migrated from ENSG00000178573 to ENSG00000178573 (gene set migration)
Genetic Epilepsy v2.0 L2HGDH Gene migrated from ENSG00000087299 to ENSG00000087299 (gene set migration)
Genetic Epilepsy v2.0 BLTP1 Gene symbol changed from KIAA1109 to BLTP1 during gene set migration (ENSG00000138688 -> ENSG00000138688)
Genetic Epilepsy v2.0 KCTD7 Gene migrated from ENSG00000243335 to ENSG00000243335 (gene set migration)
Genetic Epilepsy v2.0 ITPA Gene migrated from ENSG00000125877 to ENSG00000125877 (gene set migration)
Genetic Epilepsy v2.0 IKBKG Gene migrated from ENSG00000269335 to ENSG00000269335 (gene set migration)
Genetic Epilepsy v2.0 KATNB1 Gene migrated from ENSG00000140854 to ENSG00000140854 (gene set migration)
Genetic Epilepsy v2.0 KANSL1 Gene migrated from ENSG00000120071 to ENSG00000120071 (gene set migration)
Genetic Epilepsy v2.0 HTRA2 Gene migrated from ENSG00000115317 to ENSG00000115317 (gene set migration)
Genetic Epilepsy v2.0 HSD17B4 Gene migrated from ENSG00000133835 to ENSG00000133835 (gene set migration)
Genetic Epilepsy v2.0 RHOBTB2 Gene migrated from ENSG00000008853 to ENSG00000008853 (gene set migration)
Genetic Epilepsy v2.0 HRAS Gene migrated from ENSG00000174775 to ENSG00000174775 (gene set migration)
Genetic Epilepsy v2.0 HLCS Gene migrated from ENSG00000159267 to ENSG00000159267 (gene set migration)
Genetic Epilepsy v2.0 DHRSX Gene migrated from ENSG00000169084 to ENSG00000169084 (gene set migration)
Genetic Epilepsy v2.0 HEXB Gene migrated from ENSG00000049860 to ENSG00000049860 (gene set migration)
Genetic Epilepsy v2.0 HEXA Gene migrated from ENSG00000213614 to ENSG00000213614 (gene set migration)
Genetic Epilepsy v2.0 HAX1 Gene migrated from ENSG00000143575 to ENSG00000143575 (gene set migration)
Genetic Epilepsy v2.0 GM2A Gene migrated from ENSG00000196743 to ENSG00000196743 (gene set migration)
Genetic Epilepsy v2.0 KARS1 Gene symbol changed from KARS to KARS1 during gene set migration (ENSG00000065427 -> ENSG00000065427)
Genetic Epilepsy v2.0 GLDC Gene migrated from ENSG00000178445 to ENSG00000178445 (gene set migration)
Genetic Epilepsy v2.0 GFM1 Gene migrated from ENSG00000168827 to ENSG00000168827 (gene set migration)
Genetic Epilepsy v2.0 GFAP Gene migrated from ENSG00000131095 to ENSG00000131095 (gene set migration)
Genetic Epilepsy v2.0 GCH1 Gene migrated from ENSG00000131979 to ENSG00000131979 (gene set migration)
Genetic Epilepsy v2.0 GALC Gene migrated from ENSG00000054983 to ENSG00000054983 (gene set migration)
Genetic Epilepsy v2.0 FRRS1L Gene migrated from ENSG00000260230 to ENSG00000260230 (gene set migration)
Genetic Epilepsy v2.0 UNC79 Gene migrated from ENSG00000133958 to ENSG00000133958 (gene set migration)
Genetic Epilepsy v2.0 DPM1 Gene migrated from ENSG00000000419 to ENSG00000000419 (gene set migration)
Genetic Epilepsy v2.0 FOXG1 Gene migrated from ENSG00000176165 to ENSG00000176165 (gene set migration)
Genetic Epilepsy v2.0 EXOSC3 Gene migrated from ENSG00000107371 to ENSG00000107371 (gene set migration)
Genetic Epilepsy v2.0 EPM2A Gene migrated from ENSG00000112425 to ENSG00000112425 (gene set migration)
Genetic Epilepsy v2.0 DDX3X Gene migrated from ENSG00000215301 to ENSG00000215301 (gene set migration)
Genetic Epilepsy v2.0 DCX Gene migrated from ENSG00000077279 to ENSG00000077279 (gene set migration)
Genetic Epilepsy v2.0 D2HGDH Gene migrated from ENSG00000180902 to ENSG00000180902 (gene set migration)
Genetic Epilepsy v2.0 CTSD Gene migrated from ENSG00000117984 to ENSG00000117984 (gene set migration)
Genetic Epilepsy v2.0 COQ9 Gene migrated from ENSG00000088682 to ENSG00000088682 (gene set migration)
Genetic Epilepsy v2.0 COQ2 Gene migrated from ENSG00000173085 to ENSG00000173085 (gene set migration)
Genetic Epilepsy v2.0 ECHS1 Gene migrated from ENSG00000127884 to ENSG00000127884 (gene set migration)
Genetic Epilepsy v2.0 DOHH Gene migrated from ENSG00000129932 to ENSG00000129932 (gene set migration)
Genetic Epilepsy v2.0 DHX16 Gene migrated from ENSG00000204560 to ENSG00000204560 (gene set migration)
Genetic Epilepsy v2.0 POGZ Gene migrated from ENSG00000143442 to ENSG00000143442 (gene set migration)
Genetic Epilepsy v2.0 DIP2C Gene migrated from ENSG00000151240 to ENSG00000151240 (gene set migration)
Genetic Epilepsy v2.0 PLP1 Gene migrated from ENSG00000123560 to ENSG00000123560 (gene set migration)
Genetic Epilepsy v2.0 CECR2 Gene migrated from ENSG00000099954 to ENSG00000099954 (gene set migration)
Genetic Epilepsy v2.0 SLC13A3 Gene migrated from ENSG00000158296 to ENSG00000158296 (gene set migration)
Genetic Epilepsy v2.0 SYN1 Gene migrated from ENSG00000008056 to ENSG00000008056 (gene set migration)
Genetic Epilepsy v2.0 SURF1 Gene migrated from ENSG00000148290 to ENSG00000148290 (gene set migration)
Genetic Epilepsy v2.0 STRADA Gene migrated from ENSG00000266173 to ENSG00000266173 (gene set migration)
Genetic Epilepsy v2.0 SPR Gene migrated from ENSG00000116096 to ENSG00000116096 (gene set migration)
Genetic Epilepsy v2.0 SNAP25 Gene migrated from ENSG00000132639 to ENSG00000132639 (gene set migration)
Genetic Epilepsy v2.0 SLC6A8 Gene migrated from ENSG00000130821 to ENSG00000130821 (gene set migration)
Genetic Epilepsy v2.0 UNC13A Gene migrated from ENSG00000130477 to ENSG00000130477 (gene set migration)
Genetic Epilepsy v2.0 SLC2A1 Gene migrated from ENSG00000117394 to ENSG00000117394 (gene set migration)
Genetic Epilepsy v2.0 SHROOM4 Gene migrated from ENSG00000158352 to ENSG00000158352 (gene set migration)
Genetic Epilepsy v2.0 SETBP1 Gene migrated from ENSG00000152217 to ENSG00000152217 (gene set migration)
Genetic Epilepsy v2.0 NSRP1 Gene migrated from ENSG00000126653 to ENSG00000126653 (gene set migration)
Genetic Epilepsy v2.0 SEPSECS Gene migrated from ENSG00000109618 to ENSG00000109618 (gene set migration)
Genetic Epilepsy v2.0 SLITRK2 Gene migrated from ENSG00000185985 to ENSG00000185985 (gene set migration)
Genetic Epilepsy v2.0 RTTN Gene migrated from ENSG00000176225 to ENSG00000176225 (gene set migration)
Genetic Epilepsy v2.0 GLI3 Gene migrated from ENSG00000106571 to ENSG00000106571 (gene set migration)
Genetic Epilepsy v2.0 RTN4IP1 Gene migrated from ENSG00000130347 to ENSG00000130347 (gene set migration)
Genetic Epilepsy v2.0 CNOT9 Gene migrated from ENSG00000144580 to ENSG00000144580 (gene set migration)
Genetic Epilepsy v2.0 RRM2B Gene migrated from ENSG00000048392 to ENSG00000048392 (gene set migration)
Genetic Epilepsy v2.0 GCDH Gene migrated from ENSG00000105607 to ENSG00000105607 (gene set migration)
Genetic Epilepsy v2.0 RNASET2 Gene migrated from ENSG00000026297 to ENSG00000026297 (gene set migration)
Genetic Epilepsy v2.0 RNASEH2C Gene migrated from ENSG00000172922 to ENSG00000172922 (gene set migration)
Genetic Epilepsy v2.0 GABRA4 Gene migrated from ENSG00000109158 to ENSG00000109158 (gene set migration)
Genetic Epilepsy v2.0 RNASEH2B Gene migrated from ENSG00000136104 to ENSG00000136104 (gene set migration)
Genetic Epilepsy v2.0 COQ8A Gene migrated from ENSG00000163050 to ENSG00000163050 (gene set migration)
Genetic Epilepsy v2.0 POMGNT1 Gene migrated from ENSG00000085998 to ENSG00000085998 (gene set migration)
Genetic Epilepsy v2.0 MED11 Gene migrated from ENSG00000161920 to ENSG00000161920 (gene set migration)
Genetic Epilepsy v2.0 CDK13 Gene migrated from ENSG00000065883 to ENSG00000065883 (gene set migration)
Genetic Epilepsy v2.0 FCSK Gene symbol changed from FUK to FCSK during gene set migration (ENSG00000157353 -> ENSG00000157353)
Genetic Epilepsy v2.0 ESAM Gene migrated from ENSG00000149564 to ENSG00000149564 (gene set migration)
Genetic Epilepsy v2.0 PEX2 Gene migrated from ENSG00000164751 to ENSG00000164751 (gene set migration)
Genetic Epilepsy v2.0 NAA10 Gene migrated from ENSG00000102030 to ENSG00000102030 (gene set migration)
Genetic Epilepsy v2.0 RPS6KA3 Gene migrated from ENSG00000177189 to ENSG00000177189 (gene set migration)
Genetic Epilepsy v2.0 RERE Gene migrated from ENSG00000142599 to ENSG00000142599 (gene set migration)
Genetic Epilepsy v2.0 AGO1 Gene migrated from ENSG00000092847 to ENSG00000092847 (gene set migration)
Genetic Epilepsy v2.0 RANBP2 Gene migrated from ENSG00000153201 to ENSG00000153201 (gene set migration)
Genetic Epilepsy v2.0 RAI1 Gene migrated from ENSG00000108557 to ENSG00000108557 (gene set migration)
Genetic Epilepsy v2.0 RAB39B Gene migrated from ENSG00000155961 to ENSG00000155961 (gene set migration)
Genetic Epilepsy v2.0 PUS3 Gene migrated from ENSG00000110060 to ENSG00000110060 (gene set migration)
Genetic Epilepsy v2.0 ALG8 Gene migrated from ENSG00000159063 to ENSG00000159063 (gene set migration)
Genetic Epilepsy v2.0 MOCS2 Gene migrated from ENSG00000164172 to ENSG00000164172 (gene set migration)
Genetic Epilepsy v2.0 TRPM3 Gene migrated from ENSG00000083067 to ENSG00000083067 (gene set migration)
Genetic Epilepsy v2.0 ZSWIM6 Gene migrated from ENSG00000130449 to ENSG00000130449 (gene set migration)
Genetic Epilepsy v2.0 GABRA3 Gene migrated from ENSG00000011677 to ENSG00000011677 (gene set migration)
Genetic Epilepsy v2.0 GPHN Gene migrated from ENSG00000171723 to ENSG00000171723 (gene set migration)
Genetic Epilepsy v2.0 MAST3 Gene migrated from ENSG00000099308 to ENSG00000099308 (gene set migration)
Genetic Epilepsy v2.0 CACNA1I Gene migrated from ENSG00000100346 to ENSG00000100346 (gene set migration)
Genetic Epilepsy v2.0 KLHL20 Gene migrated from ENSG00000076321 to ENSG00000076321 (gene set migration)
Genetic Epilepsy v2.0 PI4K2A Gene migrated from ENSG00000155252 to ENSG00000155252 (gene set migration)
Genetic Epilepsy v2.0 CAMSAP1 Gene migrated from ENSG00000130559 to ENSG00000130559 (gene set migration)
Genetic Epilepsy v2.0 SSPOP Gene symbol changed from SSPO to SSPOP during gene set migration (ENSG00000197558 -> ENSG00000197558)
Genetic Epilepsy v2.0 AFG2A Gene symbol changed from SPATA5 to AFG2A during gene set migration (ENSG00000145375 -> ENSG00000145375)
Genetic Epilepsy v2.0 SNF8 Gene migrated from ENSG00000159210 to ENSG00000159210 (gene set migration)
Genetic Epilepsy v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.435
Genetic Epilepsy v1.435 TMEM161B Zornitza Stark Marked gene: TMEM161B as ready
Genetic Epilepsy v1.435 TMEM161B Zornitza Stark Gene: tmem161b has been classified as Green List (High Evidence).
Genetic Epilepsy v1.435 Zornitza Stark Copied gene TMEM161B from panel Mendeliome
Genetic Epilepsy v1.435 TMEM161B Zornitza Stark gene: TMEM161B was added
gene: TMEM161B was added to Genetic Epilepsy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: TMEM161B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM161B were set to 37486637; 36669109; 36669111
Phenotypes for gene: TMEM161B were set to Neurodevelopmental disorder, MONDO:0700092, TMEM161B-related
Genetic Epilepsy v1.434 DENR Zornitza Stark Marked gene: DENR as ready
Genetic Epilepsy v1.434 DENR Zornitza Stark Gene: denr has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.434 Zornitza Stark Copied gene DENR from panel Mendeliome
Genetic Epilepsy v1.434 DENR Zornitza Stark gene: DENR was added
gene: DENR was added to Genetic Epilepsy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: DENR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DENR were set to 27239039
Phenotypes for gene: DENR were set to Neurodevelopmental disorder, MONDO:0700092, DENR-related
Genetic Epilepsy v1.433 MDGA2 Zornitza Stark Phenotypes for gene: MDGA2 were changed from MDGA2-related neurodevelopmental disorder MONDO:0700092 to Developmental and epileptic encephalopathy 122, MIM# 621608
Genetic Epilepsy v1.432 MDGA2 Zornitza Stark reviewed gene: MDGA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 122, MIM# 621608; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.432 Bryony Thompson Copied gene NCOR1 from panel Mendeliome
Genetic Epilepsy v1.432 NCOR1 Bryony Thompson gene: NCOR1 was added
gene: NCOR1 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: NCOR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NCOR1 were set to 32034166; 31849593; 30664766; 30289594; 29483668
Phenotypes for gene: NCOR1 were set to complex neurodevelopmental disorder, MONDO:0100038
Genetic Epilepsy v1.431 RAPGEF2 Zornitza Stark Classified gene: RAPGEF2 as Red List (low evidence)
Genetic Epilepsy v1.431 RAPGEF2 Zornitza Stark Gene: rapgef2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.430 SAMD12 Zornitza Stark Classified gene: SAMD12 as Green List (high evidence)
Genetic Epilepsy v1.430 SAMD12 Zornitza Stark Gene: samd12 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.429 CACNA2D1 Sarah Milton Classified gene: CACNA2D1 as Amber List (moderate evidence)
Genetic Epilepsy v1.429 CACNA2D1 Sarah Milton Gene: cacna2d1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.428 CACNA2D1 Sarah Milton Classified gene: CACNA2D1 as Amber List (moderate evidence)
Genetic Epilepsy v1.428 CACNA2D1 Sarah Milton Gene: cacna2d1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.428 CACNA2D1 Sarah Milton Classified gene: CACNA2D1 as Amber List (moderate evidence)
Genetic Epilepsy v1.428 CACNA2D1 Sarah Milton Gene: cacna2d1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.427 Sarah Milton Added reviews for gene CACNA2D1 from panel Mendeliome
Genetic Epilepsy v1.426 RING1 Zornitza Stark Marked gene: RING1 as ready
Genetic Epilepsy v1.426 RING1 Zornitza Stark Gene: ring1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.426 RING1 Zornitza Stark Phenotypes for gene: RING1 were changed from complex neurodevelopmental disorder, MONDO:0100038 to complex neurodevelopmental disorder, MONDO:0100038, RING1-related
Genetic Epilepsy v1.425 RING1 Sangavi Sivagnanasundram Phenotypes for gene: RING1 were changed from microcephaly; intellectual disability to complex neurodevelopmental disorder, MONDO:0100038
Genetic Epilepsy v1.424 RING1 Sangavi Sivagnanasundram Publications for gene: RING1 were set to 29386386
Genetic Epilepsy v1.423 RING1 Sangavi Sivagnanasundram Mode of inheritance for gene: RING1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.422 RING1 Sangavi Sivagnanasundram Classified gene: RING1 as Green List (high evidence)
Genetic Epilepsy v1.422 RING1 Sangavi Sivagnanasundram Gene: ring1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.421 Sangavi Sivagnanasundram Copied gene RING1 from panel Mendeliome
Genetic Epilepsy v1.421 RING1 Sangavi Sivagnanasundram gene: RING1 was added
gene: RING1 was added to Genetic Epilepsy. Sources: Expert Review Red,Literature
Mode of inheritance for gene: RING1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RING1 were set to 29386386
Phenotypes for gene: RING1 were set to microcephaly; intellectual disability
Genetic Epilepsy v1.420 RNU6ATAC Zornitza Stark Phenotypes for gene: RNU6ATAC were changed from Syndromic disease, MONDO:0002254, RNU6ATAC-related to Mendez-Johnson immunoneurologic syndrome, MIM# 621585
Genetic Epilepsy v1.419 RNU6ATAC Zornitza Stark edited their review of gene: RNU6ATAC: Changed phenotypes: Mendez-Johnson immunoneurologic syndrome, MIM# 621585
Genetic Epilepsy v1.419 Lucy Spencer Copied gene CECR2 from panel Mendeliome
Genetic Epilepsy v1.419 CECR2 Lucy Spencer gene: CECR2 was added
gene: CECR2 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: CECR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CECR2 were set to 41964217; 37424722
Phenotypes for gene: CECR2 were set to Neurodevelopmental disorder, MONDO:0700092, CECR2-related; neural tube defects, susceptibility to MONDO:0020705, CECR2-related
Genetic Epilepsy v1.418 PGM3 Zornitza Stark Mode of inheritance for gene: PGM3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v1.417 PGM3 Zornitza Stark Mode of inheritance for gene: PGM3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.416 PGM3 Zornitza Stark edited their review of gene: PGM3: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.416 SRRM4 chirag patel Marked gene: SRRM4 as ready
Genetic Epilepsy v1.416 SRRM4 chirag patel Gene: srrm4 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.416 chirag patel Copied gene SRRM4 from panel Mendeliome
Genetic Epilepsy v1.416 SRRM4 chirag patel gene: SRRM4 was added
gene: SRRM4 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SRRM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SRRM4 were set to 41958152
Phenotypes for gene: SRRM4 were set to Neurodevelopmental disorder, MONDO:0700092, SRRM4-related
Mode of pathogenicity for gene: SRRM4 was set to Other
Genetic Epilepsy v1.415 ATG12 chirag patel Marked gene: ATG12 as ready
Genetic Epilepsy v1.415 ATG12 chirag patel Gene: atg12 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.415 chirag patel Copied gene ATG12 from panel Mendeliome
Genetic Epilepsy v1.415 ATG12 chirag patel gene: ATG12 was added
gene: ATG12 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ATG12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG12 were set to 41895291
Phenotypes for gene: ATG12 were set to ATG12-related neurodevelopmental disorder, MONDO:0700092
Genetic Epilepsy v1.414 PIGM Zornitza Stark Marked gene: PIGM as ready
Genetic Epilepsy v1.414 PIGM Zornitza Stark Gene: pigm has been classified as Green List (High Evidence).
Genetic Epilepsy v1.414 Zornitza Stark Copied gene PIGM from panel Mendeliome
Genetic Epilepsy v1.414 PIGM Zornitza Stark gene: PIGM was added
gene: PIGM was added to Genetic Epilepsy. Sources: Expert Review Green,Victorian Clinical Genetics Services
founder tags were added to gene: PIGM.
Mode of inheritance for gene: PIGM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGM were set to 31445883; 16767100; 41782195; 39912323; 39425582; 39119839
Phenotypes for gene: PIGM were set to Glycosylphosphatidylinositol deficiency, MIM# 610293; portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events
Genetic Epilepsy v1.413 FOXJ3 Zornitza Stark Marked gene: FOXJ3 as ready
Genetic Epilepsy v1.413 FOXJ3 Zornitza Stark Gene: foxj3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.413 Zornitza Stark Copied gene FOXJ3 from panel Mendeliome
Genetic Epilepsy v1.413 FOXJ3 Zornitza Stark gene: FOXJ3 was added
gene: FOXJ3 was added to Genetic Epilepsy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: FOXJ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXJ3 were set to 41803108
Phenotypes for gene: FOXJ3 were set to Focal epilepsy, MONDO:0005384, FOXJ3-related
Genetic Epilepsy v1.412 SLC20A2 Zornitza Stark Marked gene: SLC20A2 as ready
Genetic Epilepsy v1.412 SLC20A2 Zornitza Stark Gene: slc20a2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.412 SLC20A2 Zornitza Stark Classified gene: SLC20A2 as Amber List (moderate evidence)
Genetic Epilepsy v1.412 SLC20A2 Zornitza Stark Gene: slc20a2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.411 SLC20A2 Zornitza Stark gene: SLC20A2 was added
gene: SLC20A2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SLC20A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC20A2 were set to 41458256; 35881308
Phenotypes for gene: SLC20A2 were set to Basal ganglia calcification, idiopathic, 1, MIM# 213600
Review for gene: SLC20A2 was set to AMBER
Added comment: PMID 41458256: Reports a single individual a homozygous nonsense SLC20A2 variant presenting with infantile primary familial brain calcification, cerebral arterial vasculopathy and ischaemic stroke. Individual exhibited seizures, hypotonia, poor feeding, and extensive ischaemic changes.

PMID 35881308: reports two siblings from a consanguineous Turkish family with a homozygous splice‑site loss‑of‑function variant NM_006749.5:c.1794+1G>A. The affected children presented with severe paediatric‑onset features resembling congenital CMV infection: growth retardation, bilateral cataracts, microcephaly, seizures, cerebral atrophy, corpus callosum hypoplasia and brain microcalcifications.

Gene is classically associated with a milder mono-allelic disorder, which typically does not involve seizures.
Sources: Literature
Genetic Epilepsy v1.410 RYR3 Lilian Rudd Added comment: Comment on mode of inheritance: Limited by clingen for AD epilepsy, not considered for AR by ClinGen.
All of the recessive DEE patients are from the 2 Chinese papers PMID 39840699, PMID: 29667327. Amber for AR DEE
Genetic Epilepsy v1.410 RYR3 Lilian Rudd Mode of inheritance for gene: RYR3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v1.409 RYR3 Lucy Spencer reviewed gene: RYR3: Rating: AMBER; Mode of pathogenicity: None; Publications: 39220738, 39840699, 25262651, 29667327, 31230720; Phenotypes: Developmental and epileptic encephalopathy MONDO:0100620, RYR3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.409 PAK2 Elena Savva reviewed gene: PAK2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40247748; Phenotypes: ?Knobloch syndrome 2 MIM#618458; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genetic Epilepsy v1.409 IQSEC2 Zornitza Stark Phenotypes for gene: IQSEC2 were changed from Intellectual developmental disorder, X-linked 1 MIM#309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347 to Intellectual developmental disorder, X-linked 1, MIM# 309530; Neurodevelopmental disorder, X-linked, with poor or absent speech and behavioral abnormalities, MIM# 301164
Genetic Epilepsy v1.408 IQSEC2 Zornitza Stark edited their review of gene: IQSEC2: Changed phenotypes: Intellectual developmental disorder, X-linked 1, MIM# 309530, Neurodevelopmental disorder, X-linked, with poor or absent speech and behavioral abnormalities, MIM# 301164
Genetic Epilepsy v1.408 RYR3 Karina Sandoval reviewed gene: RYR3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39840699, 39220738, 25262651, 29667327; Phenotypes: undetermined early-onset epileptic encephalopathy (MONDO:0018614); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v1.408 WDTC1 Zornitza Stark Marked gene: WDTC1 as ready
Genetic Epilepsy v1.408 WDTC1 Zornitza Stark Gene: wdtc1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.408 WSB2 Zornitza Stark Phenotypes for gene: WSB2 were changed from Complex neurodevelopmental disorder, MONDO:0100038, WSB2-related to Luo-Agrawal neurodevelopmental syndrome, MIM# 621552
Genetic Epilepsy v1.407 WSB2 Zornitza Stark reviewed gene: WSB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Luo-Agrawal neurodevelopmental syndrome, MIM# 621552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.407 KCNJ4 chirag patel changed review comment from: PMID 41830586 reports 4 individuals from 4 families with heterozygous missense KCNJ4 variants presenting with refractory epilepsy and neurodevelopmental delay/intellectual disability. Clinical features range from isolated epilepsy to severe developmental and epileptic encephalopathy. Two variants arose de novo and two had unknown segregation status. Electrophysiology in Xenopus oocytes demonstrates variant‑specific gain‑of‑function (Gly136Ser and Glu384Lys) or loss‑of‑function effects (Val206Met and Met293Lys).
Sources: Literature; to: PMID 41830586 reports 4 individuals from 4 families with rare heterozygous missense KCNJ4 variants presenting with refractory epilepsy and neurodevelopmental delay/intellectual disability. Clinical features range from isolated epilepsy to severe developmental and epileptic encephalopathy. Two variants arose de novo and two had unknown segregation status. Electrophysiology in Xenopus oocytes demonstrates variant‑specific gain‑of‑function (Gly136Ser and Glu384Lys) or loss‑of‑function effects (Val206Met and Met293Lys).
Sources: Literature
Genetic Epilepsy v1.407 KCNJ4 chirag patel Marked gene: KCNJ4 as ready
Genetic Epilepsy v1.407 KCNJ4 chirag patel Gene: kcnj4 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.407 chirag patel Copied gene KCNJ4 from panel Mendeliome
Genetic Epilepsy v1.407 KCNJ4 chirag patel gene: KCNJ4 was added
gene: KCNJ4 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: KCNJ4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNJ4 were set to 41830586
Phenotypes for gene: KCNJ4 were set to Neurodevelopmental disorder, MONDO:0700092, KCNJ4-related
Mode of pathogenicity for gene: KCNJ4 was set to Other
Genetic Epilepsy v1.406 Lucy Spencer Copied gene WDTC1 from panel Mendeliome
Genetic Epilepsy v1.406 WDTC1 Lucy Spencer gene: WDTC1 was added
gene: WDTC1 was added to Genetic Epilepsy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: WDTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WDTC1 were set to 41793087
Phenotypes for gene: WDTC1 were set to Neurodevelopmental disorder MONDO:0700092, WDTC1-related
Genetic Epilepsy v1.405 MT-TY Zornitza Stark Marked gene: MT-TY as ready
Genetic Epilepsy v1.405 MT-TY Zornitza Stark Gene: mt-ty has been classified as Green List (High Evidence).
Genetic Epilepsy v1.405 Zornitza Stark Copied gene MT-TY from panel Mendeliome
Genetic Epilepsy v1.405 MT-TY Zornitza Stark gene: MT-TY was added
gene: MT-TY was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TY.
Mode of inheritance for gene gene: MT-TY was set to MITOCHONDRIAL
Publications for gene: MT-TY were set to 11071502; 11756614; 11594340; 33279411; 30643656; 32684384; 32485333; 33279411
Phenotypes for gene: MT-TY were set to Mitochondrial disease (MONDO:0044970), MT-TY-related
Genetic Epilepsy v1.404 MT-TW Zornitza Stark Marked gene: MT-TW as ready
Genetic Epilepsy v1.404 MT-TW Zornitza Stark Gene: mt-tw has been classified as Green List (High Evidence).
Genetic Epilepsy v1.404 Zornitza Stark Copied gene MT-TW from panel Mitochondrial disease
Genetic Epilepsy v1.404 MT-TW Zornitza Stark gene: MT-TW was added
gene: MT-TW was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TW.
Mode of inheritance for gene gene: MT-TW was set to MITOCHONDRIAL
Publications for gene: MT-TW were set to 7695240; 9266739; 9673981; 12776230; 15054399; 18337306; 19809478; 26524491; 23841600; 30937556
Phenotypes for gene: MT-TW were set to Mitochondrial disease (MONDO:0044970), MT-TW-related
Genetic Epilepsy v1.403 MT-TV Zornitza Stark Marked gene: MT-TV as ready
Genetic Epilepsy v1.403 MT-TV Zornitza Stark Gene: mt-tv has been classified as Green List (High Evidence).
Genetic Epilepsy v1.403 Zornitza Stark Copied gene MT-TV from panel Mitochondrial disease
Genetic Epilepsy v1.403 MT-TV Zornitza Stark gene: MT-TV was added
gene: MT-TV was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TV.
Mode of inheritance for gene gene: MT-TV was set to MITOCHONDRIAL
Publications for gene: MT-TV were set to 9450773; 12056939; 19252805; 15320572; 18314141; 24691472; 39468830
Phenotypes for gene: MT-TV were set to Mitochondrial disease (MONDO:0044970), MT-TV-related
Genetic Epilepsy v1.402 MT-TT Zornitza Stark Marked gene: MT-TT as ready
Genetic Epilepsy v1.402 MT-TT Zornitza Stark Gene: mt-tt has been classified as Green List (High Evidence).
Genetic Epilepsy v1.402 Zornitza Stark Copied gene MT-TT from panel Mitochondrial disease
Genetic Epilepsy v1.402 MT-TT Zornitza Stark gene: MT-TT was added
gene: MT-TT was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TT.
Mode of inheritance for gene gene: MT-TT was set to MITOCHONDRIAL
Publications for gene: MT-TT were set to 32083134; 8769114; 9367299; 1645537; 8511015; 22638997; 29760464; 30236074; 28187756; 35808913
Phenotypes for gene: MT-TT were set to Mitochondrial disease (MONDO:0044970), MT-TT-related
Genetic Epilepsy v1.401 MT-TS2 Zornitza Stark Marked gene: MT-TS2 as ready
Genetic Epilepsy v1.401 MT-TS2 Zornitza Stark Gene: mt-ts2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.401 Zornitza Stark Copied gene MT-TS2 from panel Mitochondrial disease
Genetic Epilepsy v1.401 MT-TS2 Zornitza Stark gene: MT-TS2 was added
gene: MT-TS2 was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TS2.
Mode of inheritance for gene gene: MT-TS2 was set to MITOCHONDRIAL
Publications for gene: MT-TS2 were set to 9792552; 10090882; 16950817; 21257182; 22369973; 22378285
Phenotypes for gene: MT-TS2 were set to Mitochondrial disease (MONDO:0044970), MT-TS2-related
Genetic Epilepsy v1.400 MT-TS1 Zornitza Stark Marked gene: MT-TS1 as ready
Genetic Epilepsy v1.400 MT-TS1 Zornitza Stark Gene: mt-ts1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.400 Zornitza Stark Copied gene MT-TS1 from panel Mitochondrial disease
Genetic Epilepsy v1.400 MT-TS1 Zornitza Stark gene: MT-TS1 was added
gene: MT-TS1 was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TS1.
Mode of inheritance for gene gene: MT-TS1 was set to MITOCHONDRIAL
Publications for gene: MT-TS1 were set to 7669057; 9778262; 14605505; 23696415; 33279600; 7581383
Phenotypes for gene: MT-TS1 were set to Mitochondrial disease (MONDO:0044970), MT-TS1-related
Genetic Epilepsy v1.399 MT-TR Zornitza Stark Marked gene: MT-TR as ready
Genetic Epilepsy v1.399 MT-TR Zornitza Stark Gene: mt-tr has been classified as Green List (High Evidence).
Genetic Epilepsy v1.399 Zornitza Stark Copied gene MT-TR from panel Mitochondrial disease
Genetic Epilepsy v1.399 MT-TR Zornitza Stark gene: MT-TR was added
gene: MT-TR was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TR.
Mode of inheritance for gene gene: MT-TR was set to MITOCHONDRIAL
Publications for gene: MT-TR were set to 15286228; 17588757; 19809478; 22781096
Phenotypes for gene: MT-TR were set to mitochondrial disease (MONDO:0044970), MT-TR-related
Genetic Epilepsy v1.398 RNU6ATAC Zornitza Stark Phenotypes for gene: RNU6ATAC were changed from Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related; neonatal diabetes to Syndromic disease, MONDO:0002254, RNU6ATAC-related
Genetic Epilepsy v1.397 RNU6ATAC Zornitza Stark Publications for gene: RNU6ATAC were set to 40975062
Genetic Epilepsy v1.396 RNU6ATAC Zornitza Stark Classified gene: RNU6ATAC as Green List (high evidence)
Genetic Epilepsy v1.396 RNU6ATAC Zornitza Stark Gene: rnu6atac has been classified as Green List (High Evidence).
Genetic Epilepsy v1.395 RNU6ATAC Zornitza Stark Classified gene: RNU6ATAC as Green List (high evidence)
Genetic Epilepsy v1.395 RNU6ATAC Zornitza Stark Gene: rnu6atac has been classified as Green List (High Evidence).
Genetic Epilepsy v1.394 Zornitza Stark Added reviews for gene RNU6ATAC from panel Mendeliome
Genetic Epilepsy v1.393 Rylee Peters Added reviews for gene NECAP1 from panel Mendeliome
Genetic Epilepsy v1.392 MICAL1 Rylee Peters Publications for gene: MICAL1 were set to 29394500; 21638339; 38705457
Genetic Epilepsy v1.391 MICAL1 Rylee Peters Publications for gene: MICAL1 were set to 29394500; 21638339; 38705457
Genetic Epilepsy v1.391 MICAL1 Rylee Peters Publications for gene: MICAL1 were set to 29394500; 21638339; 38705457
Genetic Epilepsy v1.391 MICAL1 Rylee Peters Publications for gene: MICAL1 were set to 29394500; 21638339
Genetic Epilepsy v1.390 Rylee Peters Added reviews for gene MICAL1 from panel Mendeliome
Genetic Epilepsy v1.389 Sarah Milton Added reviews for gene TNK2 from panel Mendeliome
Genetic Epilepsy v1.388 NRDC Zornitza Stark Classified gene: NRDC as Green List (high evidence)
Genetic Epilepsy v1.388 NRDC Zornitza Stark Gene: nrdc has been classified as Green List (High Evidence).
Genetic Epilepsy v1.387 NRDC Zornitza Stark Source Literature was added to NRDC.
Rating Changed from No List (delete) to Red List (low evidence)
Genetic Epilepsy v1.386 NRDC Zornitza Stark All sources for gene: NRDC were removed
Genetic Epilepsy v1.385 NRDC Zornitza Stark Marked gene: NRDC as ready
Genetic Epilepsy v1.385 NRDC Zornitza Stark Gene: nrdc has been classified as Green List (High Evidence).
Genetic Epilepsy v1.385 Zornitza Stark Copied gene NRDC from panel Intellectual disability syndromic and non-syndromic
Genetic Epilepsy v1.385 NRDC Zornitza Stark gene: NRDC was added
gene: NRDC was added to Genetic Epilepsy. Sources: Expert Review Green,Literature,Literature
Mode of inheritance for gene: NRDC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRDC were set to 41449824; 28017472; 34582790; 19935654; 41734767; 41449824
Phenotypes for gene: NRDC were set to Neurodevelopmental disorder, MONDO:0700092, NRDC-related
Genetic Epilepsy v1.384 C17orf80 Zornitza Stark Marked gene: C17orf80 as ready
Genetic Epilepsy v1.384 C17orf80 Zornitza Stark Gene: c17orf80 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.384 Zornitza Stark Copied gene C17orf80 from panel Mendeliome
Genetic Epilepsy v1.384 C17orf80 Zornitza Stark gene: C17orf80 was added
gene: C17orf80 was added to Genetic Epilepsy. Sources: Expert Review Amber,Literature
new gene name tags were added to gene: C17orf80.
Mode of inheritance for gene: C17orf80 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C17orf80 were set to 41720819
Phenotypes for gene: C17orf80 were set to Mitochondrial disease, MONDO:0044970
Genetic Epilepsy v1.383 JKAMP Zornitza Stark Marked gene: JKAMP as ready
Genetic Epilepsy v1.383 JKAMP Zornitza Stark Gene: jkamp has been classified as Green List (High Evidence).
Genetic Epilepsy v1.383 Zornitza Stark Copied gene JKAMP from panel Intellectual disability syndromic and non-syndromic
Genetic Epilepsy v1.383 JKAMP Zornitza Stark gene: JKAMP was added
gene: JKAMP was added to Genetic Epilepsy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: JKAMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JKAMP were set to 41643666
Phenotypes for gene: JKAMP were set to Neurodevelopmental disorder with seizures and impaired intellectual and language development, MIM# 621533
Genetic Epilepsy v1.382 Lucy Spencer Added reviews for gene RBFOX3 from panel Mendeliome
Genetic Epilepsy v1.381 ATP11A Lucy Spencer Publications for gene: ATP11A were set to 40185629
Genetic Epilepsy v1.380 ATP11A Lucy Spencer Phenotypes for gene: ATP11A were changed from Focal Epilepsy MONDO:0005384 to Focal epilepsy MONDO:0005384, ATP11A; Leukodystrophy, hypomyelinating, 24 MIM#619851
Genetic Epilepsy v1.379 ATP11A Lucy Spencer Classified gene: ATP11A as Green List (high evidence)
Genetic Epilepsy v1.379 ATP11A Lucy Spencer Gene: atp11a has been classified as Green List (High Evidence).
Genetic Epilepsy v1.378 ATP11A Lucy Spencer reviewed gene: ATP11A: Rating: GREEN; Mode of pathogenicity: None; Publications: 34403372, 39432785, 40185629; Phenotypes: Focal epilepsy MONDO:0005384, ATP11A, Leukodystrophy, hypomyelinating, 24 MIM#619851; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.378 ZFHX3 Zornitza Stark Phenotypes for gene: ZFHX3 were changed from developmental and epileptic encephalopathy MONDO:0100062 to {Epilepsy, idiopathic generalized, susceptibility to}, MIM#621500
Genetic Epilepsy v1.377 ZFHX3 Zornitza Stark reviewed gene: ZFHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Epilepsy, idiopathic generalized, susceptibility to}, MIM#621500; Mode of inheritance: None
Genetic Epilepsy v1.377 PRODH Krithika Murali Classified gene: PRODH as Amber List (moderate evidence)
Genetic Epilepsy v1.377 PRODH Krithika Murali Gene: prodh has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.377 PRODH Krithika Murali Publications for gene: PRODH were set to 17412540; 12217952
Genetic Epilepsy v1.376 PRODH Krithika Murali Classified gene: PRODH as Amber List (moderate evidence)
Genetic Epilepsy v1.376 PRODH Krithika Murali Gene: prodh has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.376 PRODH Krithika Murali Classified gene: PRODH as Amber List (moderate evidence)
Genetic Epilepsy v1.376 PRODH Krithika Murali Gene: prodh has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.375 PRODH Krithika Murali reviewed gene: PRODH: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID 34285201, 17412540, 18197084, 12525555; Phenotypes: hyperprolinemia type 1 - MONDO:0009400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.375 CELSR1 Rylee Peters changed review comment from: GREEN rating for biallelic neurodevelopmental disorder association:

PMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants association with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls.

PMID: 36453712 describes 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI.
Sources: Literature; to: GREEN rating for biallelic neurodevelopmental disorder association:

PMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants associated with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls.

PMID: 36453712 describes 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI.
Sources: Literature
Genetic Epilepsy v1.375 CELSR1 Rylee Peters Classified gene: CELSR1 as Green List (high evidence)
Genetic Epilepsy v1.375 CELSR1 Rylee Peters Gene: celsr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.374 CELSR1 Rylee Peters gene: CELSR1 was added
gene: CELSR1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CELSR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CELSR1 were set to 41530147; 36453712
Phenotypes for gene: CELSR1 were set to Neurodevelopmental disorder (MONDO:0700092), CELSR1-related
Review for gene: CELSR1 was set to GREEN
Added comment: GREEN rating for biallelic neurodevelopmental disorder association:

PMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants association with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls.

PMID: 36453712 describes 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI.
Sources: Literature
Genetic Epilepsy v1.373 Bryony Thompson Copied gene GAL from panel Mendeliome
Genetic Epilepsy v1.373 GAL Bryony Thompson gene: GAL was added
gene: GAL was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GAL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GAL were set to 25691535
Phenotypes for gene: GAL were set to familial temporal lobe epilepsy 8 MONDO:0014650
Genetic Epilepsy v1.372 MAP2K4 Sangavi Sivagnanasundram Classified gene: MAP2K4 as Green List (high evidence)
Genetic Epilepsy v1.372 MAP2K4 Sangavi Sivagnanasundram Gene: map2k4 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.371 MAP2K4 Sangavi Sivagnanasundram Classified gene: MAP2K4 as Green List (high evidence)
Genetic Epilepsy v1.371 MAP2K4 Sangavi Sivagnanasundram Gene: map2k4 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.371 MAP2K4 Sangavi Sivagnanasundram Classified gene: MAP2K4 as Green List (high evidence)
Genetic Epilepsy v1.371 MAP2K4 Sangavi Sivagnanasundram Gene: map2k4 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.370 Sangavi Sivagnanasundram Copied gene MAP2K4 from panel Mendeliome
Genetic Epilepsy v1.370 MAP2K4 Sangavi Sivagnanasundram gene: MAP2K4 was added
gene: MAP2K4 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MAP2K4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAP2K4 were set to 41480045
Phenotypes for gene: MAP2K4 were set to Neurodevelopmental disorder, MONDO:0700092
Mode of pathogenicity for gene: MAP2K4 was set to Other
Genetic Epilepsy v1.369 PGBD5 Zornitza Stark Marked gene: PGBD5 as ready
Genetic Epilepsy v1.369 PGBD5 Zornitza Stark Gene: pgbd5 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.369 Zornitza Stark Copied gene PGBD5 from panel Intellectual disability syndromic and non-syndromic
Genetic Epilepsy v1.369 PGBD5 Zornitza Stark gene: PGBD5 was added
gene: PGBD5 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: PGBD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGBD5 were set to 41533792
Phenotypes for gene: PGBD5 were set to Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MIM# 621482
Genetic Epilepsy v1.368 RNU6ATAC chirag patel Classified gene: RNU6ATAC as Amber List (moderate evidence)
Genetic Epilepsy v1.368 RNU6ATAC chirag patel Gene: rnu6atac has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.368 RNU6ATAC chirag patel Classified gene: RNU6ATAC as Amber List (moderate evidence)
Genetic Epilepsy v1.368 RNU6ATAC chirag patel Gene: rnu6atac has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.367 RNU6ATAC chirag patel Classified gene: RNU6ATAC as Amber List (moderate evidence)
Genetic Epilepsy v1.367 RNU6ATAC chirag patel Gene: rnu6atac has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.367 RNU6ATAC chirag patel Phenotypes for gene: RNU6ATAC were changed from Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related to Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related; neonatal diabetes
Genetic Epilepsy v1.366 RNU6ATAC chirag patel Tag non-coding gene tag was added to gene: RNU6ATAC.
Genetic Epilepsy v1.366 chirag patel Added reviews for gene RNU6ATAC from panel Mendeliome
Genetic Epilepsy v1.365 ISCA-46304-Gain Zornitza Stark Marked Region: ISCA-46304-Gain as ready
Genetic Epilepsy v1.365 ISCA-46304-Gain Zornitza Stark Region: isca-46304-gain has been classified as Green List (High Evidence).
Genetic Epilepsy v1.365 ISCA-46304-Gain Zornitza Stark Classified Region: ISCA-46304-Gain as Green List (high evidence)
Genetic Epilepsy v1.365 ISCA-46304-Gain Zornitza Stark Region: isca-46304-gain has been classified as Green List (High Evidence).
Genetic Epilepsy v1.364 Sarah Milton Copied Region ISCA-46304-Gain from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.364 ISCA-46304-Gain Sarah Milton Region: ISCA-46304-Gain was added
Region: ISCA-46304-Gain was added to Genetic Epilepsy. Sources: ClinGen
Mode of inheritance for Region: ISCA-46304-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for Region: ISCA-46304-Gain were set to PMID: 29141583, 22679399
Phenotypes for Region: ISCA-46304-Gain were set to Syndromic X-linked intellectual disability Lubs type, MONDO:0010283
Genetic Epilepsy v1.363 STXBP1 Zornitza Stark Mode of inheritance for gene: STXBP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.362 STXBP1 Zornitza Stark edited their review of gene: STXBP1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.362 STXBP1 Zornitza Stark changed review comment from: Note recent report of BIALLELIC variants in this gene causing EE through GoF in two families.; to: Note recent report of BIALLELIC variants in this gene causing EE through GoF in one family. RED for this MOI.
Genetic Epilepsy v1.362 CSNK1E Zornitza Stark Publications for gene: CSNK1E were set to 30488659
Genetic Epilepsy v1.361 CSNK1E Zornitza Stark edited their review of gene: CSNK1E: Added comment: PMID 40751262 identifies a heterozygous CGG repeat expansion in the 5′‑UTR of CSNK1E associated with progressive myoclonic epilepsy, ataxia and cognitive decline onset at 10 years, showing incomplete penetrance (present in unaffected sister).; Changed publications: 30488659, 40751262
Genetic Epilepsy v1.361 CSMD3 Zornitza Stark reviewed gene: CSMD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 35245678; Phenotypes: ; Mode of inheritance: None
Genetic Epilepsy v1.361 VPS51 Zornitza Stark Marked gene: VPS51 as ready
Genetic Epilepsy v1.361 VPS51 Zornitza Stark Gene: vps51 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.361 Zornitza Stark Copied gene VPS51 from panel Mendeliome
Genetic Epilepsy v1.361 VPS51 Zornitza Stark gene: VPS51 was added
gene: VPS51 was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: VPS51 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS51 were set to 40565173; 30624672; 31207318; 40176246
Phenotypes for gene: VPS51 were set to Pontocerebellar hypoplasia, type 13, MIM# 618606
Genetic Epilepsy v1.360 SEC31A Zornitza Stark Classified gene: SEC31A as Green List (high evidence)
Genetic Epilepsy v1.360 SEC31A Zornitza Stark Gene: sec31a has been classified as Green List (High Evidence).
Genetic Epilepsy v1.359 SEC31A Zornitza Stark edited their review of gene: SEC31A: Added comment: PMID 39725565: Reports another individual from unrelated family with a homozygous splice‑acceptor loss‑of‑function variant (c.14351G>A) presenting with lethal neurodevelopmental disorder, dysmorphic facial features, brain anomalies, and severe skeletal defects. RT‑PCR on patient and carrier parents blood samples shows exon 12 skipping and markedly reduced SEC31A transcript, supporting loss‑of‑function.

Functional data from PMID 30464055: knockdown SEC31A Drosophila had defective brains and early lethality. In line with SEC31A encoding one of the two coating layers comprising the Coat protein complex II (COP-II) complex, trafficking newly synthesised proteins from the endoplasmic reticulum (ER) to the Golgi, CRISPR/Cas9-mediated SEC31A null mutant cells demonstrated reduced viability through upregulation of ER-stress pathways.; Changed rating: GREEN; Changed publications: 30464055, 40508110, 39725565; Changed phenotypes: Halperin-Birk syndrome, MIM# 618651
Genetic Epilepsy v1.359 LGI1 Zornitza Stark Phenotypes for gene: LGI1 were changed from Epilepsy, familial temporal lobe, 1, MIM# 6000512; Developmental and epileptic encephalopathy MONDO:0100062, LGI1-related to Epilepsy, familial temporal lobe, 1, MIM# 6000512; Developmental and epileptic encephalopathy 121, MIM# 621475
Genetic Epilepsy v1.358 LGI1 Zornitza Stark edited their review of gene: LGI1: Changed phenotypes: Epilepsy, familial temporal lobe, 1, MIM# 6000512, Developmental and epileptic encephalopathy 121, MIM# 621475; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genetic Epilepsy v1.358 GSPT2 Zornitza Stark Marked gene: GSPT2 as ready
Genetic Epilepsy v1.358 GSPT2 Zornitza Stark Gene: gspt2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.358 Zornitza Stark Copied gene GSPT2 from panel Fetal anomalies
Genetic Epilepsy v1.358 GSPT2 Zornitza Stark gene: GSPT2 was added
gene: GSPT2 was added to Genetic Epilepsy. Sources: Expert Review Green,Genomics England PanelApp,Genetic Health Queensland
Mode of inheritance for gene: GSPT2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GSPT2 were set to 28414775; 41420488
Phenotypes for gene: GSPT2 were set to Neurodevelopmental disorder, MONDO:0700092, GSPT2-related
Genetic Epilepsy v1.357 SCN10A chirag patel Phenotypes for gene: SCN10A were changed from Neurodevelopmental disorder (MONDO#0700092), SCN10A-related to Neurodevelopmental disorder (MONDO#0700092), SCN10A-related
Genetic Epilepsy v1.357 SCN10A chirag patel Phenotypes for gene: SCN10A were changed from Neurodevelopmental disorder (MONDO#0700092), SCN10A-related to Neurodevelopmental disorder (MONDO#0700092), SCN10A-related
Genetic Epilepsy v1.357 SCN10A chirag patel Classified gene: SCN10A as Amber List (moderate evidence)
Genetic Epilepsy v1.357 SCN10A chirag patel Gene: scn10a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.356 SCN10A chirag patel Phenotypes for gene: SCN10A were changed from Episodic pain syndrome, familial, 2 MIM#615551; Neurodevelopmental disorder (MONDO#0700092), SCN10A-related to Neurodevelopmental disorder (MONDO#0700092), SCN10A-related
Genetic Epilepsy v1.356 SCN10A chirag patel Classified gene: SCN10A as Amber List (moderate evidence)
Genetic Epilepsy v1.356 SCN10A chirag patel Gene: scn10a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.356 SCN10A chirag patel Classified gene: SCN10A as Amber List (moderate evidence)
Genetic Epilepsy v1.356 SCN10A chirag patel Gene: scn10a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.355 SCN10A chirag patel reviewed gene: SCN10A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.355 RNU4-2 Zornitza Stark Tag non-coding gene tag was added to gene: RNU4-2.
Genetic Epilepsy v1.355 BAIAP2 Zornitza Stark Phenotypes for gene: BAIAP2 were changed from BAIAP2-related complex neurodevelopmental disorder MONDO:0100038 to Developmental and epileptic encephalopathy 120, MIM# 621468
Genetic Epilepsy v1.354 BAIAP2 Zornitza Stark reviewed gene: BAIAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 120, MIM# 621468; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.354 SCAMP5 Zornitza Stark Phenotypes for gene: SCAMP5 were changed from Intellectual disability; seizures; autism to Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related
Genetic Epilepsy v1.353 SCAMP5 Zornitza Stark edited their review of gene: SCAMP5: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related
Genetic Epilepsy v1.353 Sarah Milton Copied Region ISCA-46295-Loss from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.353 ISCA-46295-Loss Sarah Milton Region: ISCA-46295-Loss was added
Region: ISCA-46295-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-46295-Loss was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for Region: ISCA-46295-Loss were set to PMID: 19289393
Phenotypes for Region: ISCA-46295-Loss were set to Chromosome 15q13.3 microdeletion syndrome MIM#612001; intellectual disability; seizures
Genetic Epilepsy v1.352 Sarah Milton Copied Region ISCA-46290-Gain from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.352 ISCA-46290-Gain Sarah Milton Region: ISCA-46290-Gain was added
Region: ISCA-46290-Gain was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
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 19716111; 27605428; 29707408; 16900295
Phenotypes for Region: ISCA-46290-Gain were set to Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801; intellectual disability; seizures
Genetic Epilepsy v1.351 RNU4-2 Zornitza Stark Marked gene: RNU4-2 as ready
Genetic Epilepsy v1.351 RNU4-2 Zornitza Stark Gene: rnu4-2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.351 RNU4-2 Zornitza Stark Publications for gene: RNU4-2 were set to 38991538
Genetic Epilepsy v1.350 RNU4-2 Zornitza Stark Mode of inheritance for gene: RNU4-2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v1.349 Zornitza Stark Added reviews for gene RNU4-2 from panel Intellectual disability syndromic and non-syndromic
Genetic Epilepsy v1.348 ATP9A Zornitza Stark Marked gene: ATP9A as ready
Genetic Epilepsy v1.348 ATP9A Zornitza Stark Gene: atp9a has been classified as Green List (High Evidence).
Genetic Epilepsy v1.348 ATP9A Zornitza Stark Deleted their comment
Genetic Epilepsy v1.348 ATP9A Zornitza Stark Deleted their comment
Genetic Epilepsy v1.348 ATP9A Zornitza Stark commented on gene: ATP9A: Seizures reported with both MOIs.
Genetic Epilepsy v1.348 Zornitza Stark Copied gene ATP9A from panel Intellectual disability syndromic and non-syndromic
Genetic Epilepsy v1.348 ATP9A Zornitza Stark gene: ATP9A was added
gene: ATP9A was added to Genetic Epilepsy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ATP9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATP9A were set to 34379057; 34764295; 36604604; 40226306
Phenotypes for gene: ATP9A were set to Neurodevelopmental disorder with poor growth and behavioural abnormalities, MIM# 620242
Genetic Epilepsy v1.347 Sarah Milton Copied Region ISCA-37493-Loss from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.347 ISCA-37493-Loss Sarah Milton Region: ISCA-37493-Loss was added
Region: ISCA-37493-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37493-Loss.
Mode of inheritance for Region: ISCA-37493-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37493-Loss were set to 28283832; 31929334; 31830750; 30853971
Phenotypes for Region: ISCA-37493-Loss were set to 1q43q44 microdeletion syndrome; intellectual disability; seizures; microcephaly; corpus callosum abnormalities
Genetic Epilepsy v1.346 Sarah Milton Copied Region ISCA-37478-Gain from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.346 ISCA-37478-Gain Sarah Milton Region: ISCA-37478-Gain was added
Region: ISCA-37478-Gain was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37478-Gain.
Mode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37478-Gain were set to Chromosome 15q11q13 duplication syndrome, MIM#608636; autism; intellectual disability; ataxia
Genetic Epilepsy v1.345 Sarah Milton Copied Region ISCA-37446-Loss from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.345 ISCA-37446-Loss Sarah Milton Region: ISCA-37446-Loss was added
Region: ISCA-37446-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37446-Loss.
Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37446-Loss were set to 18179902; 23765049; 21671380
Phenotypes for Region: ISCA-37446-Loss were set to Chromosome 22q11.2 deletion syndrome, distal MIM#611867; intellectual disability; autism; multiple congenital anomalies
Genetic Epilepsy v1.344 SCYL2 Zornitza Stark Marked gene: SCYL2 as ready
Genetic Epilepsy v1.344 SCYL2 Zornitza Stark Gene: scyl2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.344 SCYL2 Zornitza Stark Phenotypes for gene: SCYL2 were changed from Arthrogryposis multiplex congenita (AMC); Zain syndrome to Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MIM# 618766
Genetic Epilepsy v1.343 SCYL2 Zornitza Stark Publications for gene: SCYL2 were set to 31960134; 26203146
Genetic Epilepsy v1.342 Zornitza Stark Copied gene SCYL2 from panel Mendeliome
Genetic Epilepsy v1.342 SCYL2 Zornitza Stark gene: SCYL2 was added
gene: SCYL2 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SCYL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCYL2 were set to 31960134; 26203146
Phenotypes for gene: SCYL2 were set to Arthrogryposis multiplex congenita (AMC); Zain syndrome
Genetic Epilepsy v1.341 PIGW Zornitza Stark Classified gene: PIGW as Green List (high evidence)
Genetic Epilepsy v1.341 PIGW Zornitza Stark Gene: pigw has been classified as Green List (High Evidence).
Genetic Epilepsy v1.340 PIGW Zornitza Stark edited their review of gene: PIGW: Added comment: PMIDs 40180615; 39924787; 39766333; 38055078: additional cases not included in the ClinGen assessment.; Changed rating: GREEN; Changed publications: 24367057, 27626616, 30813920, 32198969, 40180615, 39924787, 39766333, 38055078
Genetic Epilepsy v1.340 Sarah Milton Copied Region ISCA-37434-Loss from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.340 ISCA-37434-Loss Sarah Milton Region: ISCA-37434-Loss was added
Region: ISCA-37434-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
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 PMID: 12974736; 18245432
Phenotypes for Region: ISCA-37434-Loss were set to Chromosome 1p36 deletion syndrome MIM#607872; intellectual disability; hypotonia; congenital anomalies
Genetic Epilepsy v1.339 RPS6KC1 Zornitza Stark Phenotypes for gene: RPS6KC1 were changed from Complex neurodevelopmental disorder, MONDO:0100038, RPS6KC1-related to Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460
Genetic Epilepsy v1.338 RPS6KC1 Zornitza Stark reviewed gene: RPS6KC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.338 Sarah Milton Copied Region ISCA-37433-Loss from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.338 ISCA-37433-Loss Sarah Milton Region: ISCA-37433-Loss was added
Region: ISCA-37433-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37433-Loss were set to DiGeorge syndrome MIM#188400
Genetic Epilepsy v1.337 Sarah Milton Copied Region ISCA-37432-Gain from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.337 ISCA-37432-Gain Sarah Milton Region: ISCA-37432-Gain was added
Region: ISCA-37432-Gain was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37432-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37432-Gain were set to PMID: 19844256
Phenotypes for Region: ISCA-37432-Gain were set to Chromosome 17q12 duplication syndrome 614526; intellectual disability; seizures; congenital anomalies
Genetic Epilepsy v1.336 MDN1 Zornitza Stark Marked gene: MDN1 as ready
Genetic Epilepsy v1.336 MDN1 Zornitza Stark Gene: mdn1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.336 Zornitza Stark Copied gene MDN1 from panel Mendeliome
Genetic Epilepsy v1.336 MDN1 Zornitza Stark gene: MDN1 was added
gene: MDN1 was added to Genetic Epilepsy. Sources: Expert Review Red,Literature
Mode of inheritance for gene: MDN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDN1 were set to 40217384
Phenotypes for gene: MDN1 were set to Genetic epilepsy, MONDO:0100575, MDN1-related
Genetic Epilepsy v1.335 LARGE1 Lucy Spencer Phenotypes for gene: LARGE1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM#613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM#608840 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM#613154; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 MIM#608840
Genetic Epilepsy v1.334 SCN1A Zornitza Stark Mode of inheritance for gene: SCN1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v1.333 SCN1A Zornitza Stark edited their review of gene: SCN1A: Added comment: PMID 40120363 reviews 16 published cases with biallelic variants and reports another 2: 9/18 (50 %) were diagnosed with Dravet syndrome and 6/18 (33 %) with GEFS+. The mean age of seizure onset was 7 months (range 3-19 months). Phenotypes ranged from intact neurodevelopment with controlled epilepsy to profound developmental delay and refractory epilepsy.; Changed publications: 40120363; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v1.333 EMC10 Zornitza Stark Publications for gene: EMC10 were set to 32869858; 33531666
Genetic Epilepsy v1.332 EMC10 Zornitza Stark edited their review of gene: EMC10: Added comment: PMIDs 35684946, 37318954, 40150819 report 10 additional unrelated families with loss‑of‑function EMC10 variants; Changed publications: 32869858, 33531666, 35684946, 37318954, 40150819
Genetic Epilepsy v1.332 UNC13A Zornitza Stark Phenotypes for gene: UNC13A were changed from Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455 to Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455; Intellectual development disorder with seizures and dysmorphic facies, MIM# 621457
Genetic Epilepsy v1.331 UNC13A Zornitza Stark edited their review of gene: UNC13A: Changed phenotypes: Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456, Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455, Intellectual development disorder with seizures and dysmorphic facies, MIM# 621457
Genetic Epilepsy v1.331 UNC13A Zornitza Stark Phenotypes for gene: UNC13A were changed from neurodevelopmental disorder MONDO#0700092, UNC13A-related; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455 to Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455
Genetic Epilepsy v1.330 UNC13A Zornitza Stark edited their review of gene: UNC13A: Changed phenotypes: Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456, Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455
Genetic Epilepsy v1.330 UNC13A Zornitza Stark Phenotypes for gene: UNC13A were changed from neurodevelopmental disorder MONDO#0700092, UNC13A-related to neurodevelopmental disorder MONDO#0700092, UNC13A-related; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455
Genetic Epilepsy v1.329 UNC13A Zornitza Stark Publications for gene: UNC13A were set to 28192369
Genetic Epilepsy v1.328 UNC13A Zornitza Stark Mode of inheritance for gene: UNC13A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v1.327 Zornitza Stark Added reviews for gene UNC13A from panel Mendeliome
Genetic Epilepsy v1.326 SEC24C Zornitza Stark Marked gene: SEC24C as ready
Genetic Epilepsy v1.326 SEC24C Zornitza Stark Gene: sec24c has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.326 Zornitza Stark Copied gene SEC24C from panel Mendeliome
Genetic Epilepsy v1.326 SEC24C Zornitza Stark gene: SEC24C was added
gene: SEC24C was added to Genetic Epilepsy. Sources: Expert Review Red,Literature
Mode of inheritance for gene: SEC24C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC24C were set to 40131364
Phenotypes for gene: SEC24C were set to Neurodevelopmental disorder, MONDO:0700092, SEC24C-related
Genetic Epilepsy v1.325 RHEB Zornitza Stark Marked gene: RHEB as ready
Genetic Epilepsy v1.325 RHEB Zornitza Stark Gene: rheb has been classified as Green List (High Evidence).
Genetic Epilepsy v1.325 Zornitza Stark Copied gene RHEB from panel Mendeliome
Genetic Epilepsy v1.325 RHEB Zornitza Stark gene: RHEB was added
gene: RHEB was added to Genetic Epilepsy. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RHEB was set to Other
Publications for gene: RHEB were set to 31337748; 29051493; 39993836
Phenotypes for gene: RHEB were set to Neurodevelopmental disorder MONDO:0700092, RHEB-related; Intellectual disability; Macrocephaly; Focal cortical dysplasia
Genetic Epilepsy v1.324 SELENOI Zornitza Stark Marked gene: SELENOI as ready
Genetic Epilepsy v1.324 SELENOI Zornitza Stark Gene: selenoi has been classified as Green List (High Evidence).
Genetic Epilepsy v1.324 Zornitza Stark Copied gene SELENOI from panel Mendeliome
Genetic Epilepsy v1.324 SELENOI Zornitza Stark gene: SELENOI was added
gene: SELENOI was added to Genetic Epilepsy. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SELENOI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SELENOI were set to 28052917; 39806532; 29500230; 33454747
Phenotypes for gene: SELENOI were set to Spastic paraplegia 81, autosomal recessive, MIM# 618768
Genetic Epilepsy v1.323 SORCS2 Zornitza Stark Marked gene: SORCS2 as ready
Genetic Epilepsy v1.323 SORCS2 Zornitza Stark Gene: sorcs2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.323 Zornitza Stark Copied gene SORCS2 from panel Mendeliome
Genetic Epilepsy v1.323 SORCS2 Zornitza Stark gene: SORCS2 was added
gene: SORCS2 was added to Genetic Epilepsy. Sources: Expert Review Red,Literature
Mode of inheritance for gene: SORCS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SORCS2 were set to 39810752
Phenotypes for gene: SORCS2 were set to Neurodevelopmental disorder, MONDO:0700092, SORCS2-related
Genetic Epilepsy v1.322 HCN2 Zornitza Stark Phenotypes for gene: HCN2 were changed from Febrile seizures, familial, 2, MIM# 602477; Genetic epilepsy with febrile seizures plus; Other seizure disorders to Generalized epilepsy with febrile seizures plus, type 11, MIM# 602477; Febrile seizures, familial, 2, MIM# 602477; Genetic epilepsy with febrile seizures plus; Other seizure disorders
Genetic Epilepsy v1.321 HCN2 Zornitza Stark Publications for gene: HCN2 were set to 22131395; 30986657; 29064616; 20437590; 12514127; 17931874
Genetic Epilepsy v1.320 HCN2 Zornitza Stark edited their review of gene: HCN2: Added comment: PMID 40468825 reports 21 individuals with HCN2 variants from 15 unrelated families. The phenotypic spectrum included developmental delay/intellectual disability (DD/ID, 17/21), epilepsy (10/21), language disorders (16/21), movement disorders (12/21), and axial hypotonia (10/21). Thirteen pathogenic variants (12 new and 1 already described) were identified: 11 missense (8 monoallelic and 3 biallelic), 1 recurrent inframe deletion (monoallelic), and 1 frameshift (biallelic). Functional analysis of p.(Arg324His) variant showed a strong increase of HCN2 conductance, whereas p.(Ala363Val) and p.(Met374Leu) exhibited dominant negative effects. The p.(Leu377His), p.(Pro493Leu), and p.(Gly587Asp) variants rendered HCN2 electrophysiologically silent and impaired membrane trafficking. Structural 3D-analysis revealed that, except for p.(Arg324His), all variants altered HCN2 stability.; Changed rating: GREEN; Changed publications: 22131395, 30986657, 29064616, 20437590, 12514127, 17931874, 40468825
Genetic Epilepsy v1.320 PPP1R3F Zornitza Stark Classified gene: PPP1R3F as Amber List (moderate evidence)
Genetic Epilepsy v1.320 PPP1R3F Zornitza Stark Gene: ppp1r3f has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.319 USP25 Zornitza Stark Classified gene: USP25 as Red List (low evidence)
Genetic Epilepsy v1.319 USP25 Zornitza Stark Gene: usp25 has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.318 USP25 Zornitza Stark Tag disputed tag was added to gene: USP25.
Genetic Epilepsy v1.318 USP25 Zornitza Stark edited their review of gene: USP25: Added comment: DISPUTED by ClinGen.; Changed rating: RED
Genetic Epilepsy v1.318 PPP1R3F Paul De Fazio reviewed gene: PPP1R3F: Rating: AMBER; Mode of pathogenicity: None; Publications: 37531237; Phenotypes: Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Genetic Epilepsy v1.318 MARCHF6_FAME3_TTTCA Bryony Thompson MARCH6_FAME3_TTTCA was changed to MARCHF6_FAME3_TTTCA
Genetic Epilepsy v1.317 ISCA-37429-Loss Zornitza Stark Marked Region: ISCA-37429-Loss as ready
Genetic Epilepsy v1.317 ISCA-37429-Loss Zornitza Stark Region: isca-37429-loss has been classified as Green List (High Evidence).
Genetic Epilepsy v1.317 Sarah Milton Copied Region ISCA-37429-Loss from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.317 ISCA-37429-Loss Sarah Milton Region: ISCA-37429-Loss was added
Region: ISCA-37429-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37429-Loss.
Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37429-Loss were set to Wolf-Hirschhorn syndrome, MIM# 194190; intellectual disability; growth retardation; seizures; dysmorphic features
Genetic Epilepsy v1.316 KCTD3 Lucy Spencer Phenotypes for gene: KCTD3 were changed from Epilepsy; Intellectual disability; Posterior fossa abnormalities to Neurodevelopmental disorder MONDO:0700092, KCTD3-related
Genetic Epilepsy v1.315 KCND2 Lucy Spencer Phenotypes for gene: KCND2 were changed from Neurodevelopmental disorder MONDO:0700092; global developmental delay, HP:0001263; seizure, HP:0001250 to Neurodevelopmental disorder MONDO:0700092, KCND2-related
Genetic Epilepsy v1.314 MT-TF Zornitza Stark Marked gene: MT-TF as ready
Genetic Epilepsy v1.314 MT-TF Zornitza Stark Gene: mt-tf has been classified as Green List (High Evidence).
Genetic Epilepsy v1.314 Zornitza Stark Copied gene MT-TF from panel Mitochondrial disease
Genetic Epilepsy v1.314 MT-TF Zornitza Stark gene: MT-TF was added
gene: MT-TF was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TF.
Mode of inheritance for gene gene: MT-TF was set to MITOCHONDRIAL
Publications for gene: MT-TF were set to 14659412; 9771776; 16806928; 21060018; 31463198; 32419253; 34607911; 21424749; 15184630; 20142618; 28267784; 31722346; 35472031; 9636664; 21882289; 16769874; 21914246; 31009750; 18977334
Phenotypes for gene: MT-TF were set to Mitochondrial disease (MONDO:0044970), MT-TF-related
Genetic Epilepsy v1.313 MT-TH Zornitza Stark Marked gene: MT-TH as ready
Genetic Epilepsy v1.313 MT-TH Zornitza Stark Gene: mt-th has been classified as Green List (High Evidence).
Genetic Epilepsy v1.313 MT-TG Zornitza Stark Marked gene: MT-TG as ready
Genetic Epilepsy v1.313 MT-TG Zornitza Stark Gene: mt-tg has been classified as Green List (High Evidence).
Genetic Epilepsy v1.313 Zornitza Stark Copied gene MT-TH from panel Mitochondrial disease
Genetic Epilepsy v1.313 MT-TH Zornitza Stark gene: MT-TH was added
gene: MT-TH was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TH.
Mode of inheritance for gene gene: MT-TH was set to MITOCHONDRIAL
Publications for gene: MT-TH were set to 12682337; 14967777; 15111688; 21704194; 21931169; 23696415; 35092007; 24920829; 21704194
Phenotypes for gene: MT-TH were set to Mitochondrial disease (MONDO:0044970), MT-TH-related
Genetic Epilepsy v1.312 Zornitza Stark Copied gene MT-TG from panel Mitochondrial disease
Genetic Epilepsy v1.312 MT-TG Zornitza Stark gene: MT-TG was added
gene: MT-TG was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TG.
Mode of inheritance for gene gene: MT-TG was set to MITOCHONDRIAL
Publications for gene: MT-TG were set to 8079988; 9199564; 11971101; 16120360; 32337339; 35432167; 10090480
Phenotypes for gene: MT-TG were set to Mitochondrial disease (MONDO:0044970), MT-TG-related
Genetic Epilepsy v1.311 MT-TE Zornitza Stark Marked gene: MT-TE as ready
Genetic Epilepsy v1.311 MT-TE Zornitza Stark Gene: mt-te has been classified as Green List (High Evidence).
Genetic Epilepsy v1.311 Zornitza Stark Copied gene MT-TE from panel Mitochondrial disease
Genetic Epilepsy v1.311 MT-TE Zornitza Stark gene: MT-TE was added
gene: MT-TE was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TE.
Mode of inheritance for gene gene: MT-TE was set to MITOCHONDRIAL
Publications for gene: MT-TE were set to 8155739; 21194154; 17715279; 23334599; 7726155; 7726154; 9353617; 15048886; 15670724; 23847141; 23334599; 17266923; 17056256
Phenotypes for gene: MT-TE were set to Mitochondrial disease (MONDO:0044970), MT-TE-related
Genetic Epilepsy v1.310 EMX2 Zornitza Stark Classified gene: EMX2 as Red List (low evidence)
Genetic Epilepsy v1.310 EMX2 Zornitza Stark Gene: emx2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.309 EMX2 Zornitza Stark edited their review of gene: EMX2: Changed rating: RED
Genetic Epilepsy v1.309 THG1L Zornitza Stark Tag founder tag was added to gene: THG1L.
Genetic Epilepsy v1.309 THG1L Zornitza Stark edited their review of gene: THG1L: Changed rating: AMBER
Genetic Epilepsy v1.309 THG1L Zornitza Stark commented on gene: THG1L: LIMITED by ClinGen. Founder.
Genetic Epilepsy v1.309 ATP5G3 Zornitza Stark Tag new gene name tag was added to gene: ATP5G3.
Genetic Epilepsy v1.309 ISCA-37411-Loss Zornitza Stark Marked Region: ISCA-37411-Loss as ready
Genetic Epilepsy v1.309 ISCA-37411-Loss Zornitza Stark Region: isca-37411-loss has been classified as Green List (High Evidence).
Genetic Epilepsy v1.309 Sarah Milton Copied Region ISCA-37411-Loss from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.309 ISCA-37411-Loss Sarah Milton Region: ISCA-37411-Loss was added
Region: ISCA-37411-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37411-Loss.
Mode of inheritance for Region: ISCA-37411-Loss was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for Region: ISCA-37411-Loss were set to 19372089; 20979196
Phenotypes for Region: ISCA-37411-Loss were set to Chromosome 15q13.3 microdeletion syndrome, MIM# 612001; intellectual disability; epilepsy
Genetic Epilepsy v1.308 Sarah Milton Copied Region ISCA-37404-Loss from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.308 ISCA-37404-Loss Sarah Milton Region: ISCA-37404-Loss was added
Region: ISCA-37404-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37404-Loss.
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 20301323; 20301505
Phenotypes for Region: ISCA-37404-Loss were set to Angelman syndrome, MIM# 105830; Prader-Willi syndrome, MIM# 176270
Genetic Epilepsy v1.307 MT-TC Zornitza Stark Marked gene: MT-TC as ready
Genetic Epilepsy v1.307 MT-TC Zornitza Stark Gene: mt-tc has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.307 Zornitza Stark Copied gene MT-TC from panel Mitochondrial disease
Genetic Epilepsy v1.307 MT-TC Zornitza Stark gene: MT-TC was added
gene: MT-TC was added to Genetic Epilepsy. Sources: Expert Review Amber,Expert list
mtDNA tags were added to gene: MT-TC.
Mode of inheritance for gene gene: MT-TC was set to MITOCHONDRIAL
Publications for gene: MT-TC were set to 8829635; 9185178; 17241783; 11453453; 16955414; 32169613; 36039763; 17724295; 35252560; 34433719; 30030363
Phenotypes for gene: MT-TC were set to Mitochondrial disease (MONDO:0044970), MT-TC-related
Genetic Epilepsy v1.306 MT-ND5 Zornitza Stark Marked gene: MT-ND5 as ready
Genetic Epilepsy v1.306 MT-ND5 Zornitza Stark Gene: mt-nd5 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.306 Zornitza Stark Copied gene MT-ND5 from panel Mitochondrial disease
Genetic Epilepsy v1.306 MT-ND5 Zornitza Stark gene: MT-ND5 was added
gene: MT-ND5 was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-ND5.
Mode of inheritance for gene gene: MT-ND5 was set to MITOCHONDRIAL
Publications for gene: MT-ND5 were set to 17400793; 11938446; 12624137; 18495510; 23918514; 17535832; 29506874; 23034978; 16816025; 9299505; 18977334
Phenotypes for gene: MT-ND5 were set to Mitochondrial disease (MONDO:0044970), MT-ND5-related
Genetic Epilepsy v1.305 Lucy Spencer Copied gene PRMT9 from panel Mendeliome
Genetic Epilepsy v1.305 PRMT9 Lucy Spencer gene: PRMT9 was added
gene: PRMT9 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: PRMT9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRMT9 were set to 38561334; 41260215
Phenotypes for gene: PRMT9 were set to Neurodevelopmental disorder, MONDO:0700092, PRMT9-related
Genetic Epilepsy v1.304 SLC39A8 Zornitza Stark Phenotypes for gene: SLC39A8 were changed from Congenital disorder of glycosylation, type IIn , MIM#16721 to Congenital disorder of glycosylation, type IIn , MIM#616721
Genetic Epilepsy v1.303 SLC39A8 Zornitza Stark edited their review of gene: SLC39A8: Changed phenotypes: Congenital disorder of glycosylation, type IIn , MIM#616721
Genetic Epilepsy v1.303 ISCA-37400-Loss Zornitza Stark Marked Region: ISCA-37400-Loss as ready
Genetic Epilepsy v1.303 ISCA-37400-Loss Zornitza Stark Region: isca-37400-loss has been classified as Green List (High Evidence).
Genetic Epilepsy v1.303 Sarah Milton Copied Region ISCA-37400-Loss from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.303 ISCA-37400-Loss Sarah Milton Region: ISCA-37400-Loss was added
Region: ISCA-37400-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37400-Loss.
Mode of inheritance for Region: ISCA-37400-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37400-Loss were set to Chromosome 16p11.2 deletion syndrome, proximal, MIM# 611913; autism; intellectual disability; seizures
Genetic Epilepsy v1.302 MT-ND4 Zornitza Stark Marked gene: MT-ND4 as ready
Genetic Epilepsy v1.302 MT-ND4 Zornitza Stark Gene: mt-nd4 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.302 Zornitza Stark Copied gene MT-ND4 from panel Mitochondrial disease
Genetic Epilepsy v1.302 MT-ND4 Zornitza Stark gene: MT-ND4 was added
gene: MT-ND4 was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-ND4.
Mode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL
Publications for gene: MT-ND4 were set to 12707444; 16120329; 15576045; 20502985; 27761019; 32445240; 32659360; 3201231
Phenotypes for gene: MT-ND4 were set to Mitochondrial disease (MONDO:0044970), MT-ND4-related
Genetic Epilepsy v1.301 Zornitza Stark Copied gene MT-ND3 from panel Mitochondrial disease
Genetic Epilepsy v1.301 MT-ND3 Zornitza Stark gene: MT-ND3 was added
gene: MT-ND3 was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-ND3.
Mode of inheritance for gene gene: MT-ND3 was set to MITOCHONDRIAL
Publications for gene: MT-ND3 were set to 1928099; 14705112; 14764913; 17152068; 20202874; 25118196; 25384404; 11456298; 19458970; 30199507; 29237403
Phenotypes for gene: MT-ND3 were set to Mitochondrial disease (MONDO:0044970), MT-ND3-related
Genetic Epilepsy v1.300 MT-CYB Zornitza Stark Marked gene: MT-CYB as ready
Genetic Epilepsy v1.300 MT-CYB Zornitza Stark Gene: mt-cyb has been classified as Green List (High Evidence).
Genetic Epilepsy v1.300 Zornitza Stark Copied gene MT-CYB from panel Mitochondrial disease
Genetic Epilepsy v1.300 MT-CYB Zornitza Stark gene: MT-CYB was added
gene: MT-CYB was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-CYB.
Mode of inheritance for gene gene: MT-CYB was set to MITOCHONDRIAL
Publications for gene: MT-CYB were set to 39858655; 34804306; 26937408
Phenotypes for gene: MT-CYB were set to mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CYB-related
Genetic Epilepsy v1.299 MT-CO2 Zornitza Stark Marked gene: MT-CO2 as ready
Genetic Epilepsy v1.299 MT-CO2 Zornitza Stark Gene: mt-co2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.299 Zornitza Stark Copied gene MT-CO2 from panel Mitochondrial disease
Genetic Epilepsy v1.299 MT-CO2 Zornitza Stark gene: MT-CO2 was added
gene: MT-CO2 was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-CO2.
Mode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL
Publications for gene: MT-CO2 were set to 34325999; 30315213; 28521807; 10205264; 10486321; 11558799; 18245391; 23616164; 31167410; 23965802; 30030519
Phenotypes for gene: MT-CO2 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related
Genetic Epilepsy v1.298 MT-CO1 Zornitza Stark Marked gene: MT-CO1 as ready
Genetic Epilepsy v1.298 MT-CO1 Zornitza Stark Gene: mt-co1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.298 Zornitza Stark Copied gene MT-CO1 from panel Mitochondrial disease
Genetic Epilepsy v1.298 MT-CO1 Zornitza Stark gene: MT-CO1 was added
gene: MT-CO1 was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-CO1.
Mode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL
Publications for gene: MT-CO1 were set to 30743023; 39460813; 24956508; 10441567; 10980727; 15751226; 16284789; 18977334; 22832341; 18276892; 30030519
Phenotypes for gene: MT-CO1 were set to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO1-related
Genetic Epilepsy v1.297 MT-ATP8 Zornitza Stark Marked gene: MT-ATP8 as ready
Genetic Epilepsy v1.297 MT-ATP8 Zornitza Stark Gene: mt-atp8 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.297 Zornitza Stark Copied gene MT-ATP8 from panel Mitochondrial disease
Genetic Epilepsy v1.297 MT-ATP8 Zornitza Stark gene: MT-ATP8 was added
gene: MT-ATP8 was added to Genetic Epilepsy. Sources: Expert Review Amber,Expert list
mtDNA tags were added to gene: MT-ATP8.
Mode of inheritance for gene gene: MT-ATP8 was set to MITOCHONDRIAL
Publications for gene: MT-ATP8 were set to 24153443; 20207608; 32858252; 33340416; 32858252; 19759059; 22919063
Phenotypes for gene: MT-ATP8 were set to Mitochondrial disease MONDO:0044970, MT-ATP8 related
Genetic Epilepsy v1.296 ABI2 Zornitza Stark Marked gene: ABI2 as ready
Genetic Epilepsy v1.296 ABI2 Zornitza Stark Gene: abi2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.296 Zornitza Stark Copied gene ABI2 from panel Intellectual disability syndromic and non-syndromic
Genetic Epilepsy v1.296 ABI2 Zornitza Stark gene: ABI2 was added
gene: ABI2 was added to Genetic Epilepsy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: ABI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ABI2 were set to 40475134
Phenotypes for gene: ABI2 were set to Neurodevelopmental disorder, MONDO:0700092, ABI2-related
Genetic Epilepsy v1.295 HID1 Lucy Spencer Phenotypes for gene: HID1 were changed from Syndromic infantile encephalopathy; Hypopituitarism to Developmental and epileptic encephalopathy 105 with hypopituitarism MIM#619983
Genetic Epilepsy v1.294 HEATR5B Lucy Spencer Phenotypes for gene: HEATR5B were changed from pontocerebellar hypoplasia; intellectual disability; seizures to Pontocerebellar hypoplasia MONDO:0020135, HEATR5B-related
Genetic Epilepsy v1.293 H3F3B Lucy Spencer Phenotypes for gene: H3F3B were changed from Intellectual disability; regression; seizures to Bryant-Li-Bhoj neurodevelopmental syndrome 2 MIM#619721
Genetic Epilepsy v1.292 H3F3A Lucy Spencer Phenotypes for gene: H3F3A were changed from Bryant-Li-Bhoj neurodevelopmental syndrome 1 MIM#619720 to Bryant-Li-Bhoj neurodevelopmental syndrome 1 MIM#619720
Genetic Epilepsy v1.291 H3F3A Lucy Spencer Phenotypes for gene: H3F3A were changed from Intellectual disability; regression; seizures to Bryant-Li-Bhoj neurodevelopmental syndrome 1 MIM#619720
Genetic Epilepsy v1.290 GRIN2B Lucy Spencer Phenotypes for gene: GRIN2B were changed from Mental retardation, autosomal dominant 6, MIM# 613970; Epileptic encephalopathy, early infantile, 27, MIM# 616139 to GRIN2B-related complex neurodevelopmental disorder MONDO:0700350; Developmental and epileptic encephalopathy 27 MIM#616139; Intellectual developmental disorder, autosomal dominant 6, with or without seizures MIM#613970
Genetic Epilepsy v1.289 GRIK2 Lucy Spencer Phenotypes for gene: GRIK2 were changed from Mental retardation, autosomal recessive, 6 MIM# 611092; Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580 to Intellectual developmental disorder, autosomal recessive 6 MIM#611092; Neurodevelopmental disorder with impaired language and ataxia and with or without seizures MIM#619580
Genetic Epilepsy v1.288 GNB5 Lucy Spencer Phenotypes for gene: GNB5 were changed from Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Early infantile epileptic encephalopathy (EIEE) to gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:0014953; Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173); Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182)
Genetic Epilepsy v1.287 TRA2B Zornitza Stark Phenotypes for gene: TRA2B were changed from Neurodevelopmental disorder, TRA2B-related (MONDO#0700092) to Ramond-Elliott neurodevelopmental syndrome, MIM# 621421
Genetic Epilepsy v1.286 TRA2B Zornitza Stark reviewed gene: TRA2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ramond-Elliott neurodevelopmental syndrome, MIM# 621421; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.286 ZDHHC15 chirag patel Tag disputed tag was added to gene: ZDHHC15.
Genetic Epilepsy v1.286 COQ5 Zornitza Stark Marked gene: COQ5 as ready
Genetic Epilepsy v1.286 COQ5 Zornitza Stark Gene: coq5 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.286 Zornitza Stark Copied gene COQ5 from panel Mendeliome
Genetic Epilepsy v1.286 COQ5 Zornitza Stark gene: COQ5 was added
gene: COQ5 was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list,Victorian Clinical Genetics Services
Mode of inheritance for gene: COQ5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ5 were set to 29044765; 37599337; 21937992; 41199775; 36266294
Phenotypes for gene: COQ5 were set to Coenzyme Q10 deficiency, primary 9, MIM#619028
Genetic Epilepsy v1.285 Zornitza Stark Copied gene HECTD4 from panel Intellectual disability syndromic and non-syndromic
Genetic Epilepsy v1.285 HECTD4 Zornitza Stark gene: HECTD4 was added
gene: HECTD4 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HECTD4 were set to PMID: 36401616
Phenotypes for gene: HECTD4 were set to Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, MIM# 620250
Genetic Epilepsy v1.284 CUL1 Zornitza Stark Marked gene: CUL1 as ready
Genetic Epilepsy v1.284 CUL1 Zornitza Stark Gene: cul1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.284 CUL1 Zornitza Stark Classified gene: CUL1 as Green List (high evidence)
Genetic Epilepsy v1.284 CUL1 Zornitza Stark Gene: cul1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.283 Sarah Milton Copied gene CUL1 from panel Mendeliome
Genetic Epilepsy v1.283 CUL1 Sarah Milton gene: CUL1 was added
gene: CUL1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CUL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CUL1 were set to PMID: 41189326
Phenotypes for gene: CUL1 were set to Neurodevelopmental disorder, MONDO:0700092, CUL1-related
Genetic Epilepsy v1.282 SEC31A Zornitza Stark Marked gene: SEC31A as ready
Genetic Epilepsy v1.282 SEC31A Zornitza Stark Gene: sec31a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.282 Zornitza Stark Copied gene SEC31A from panel Arthrogryposis
Genetic Epilepsy v1.282 SEC31A Zornitza Stark gene: SEC31A was added
gene: SEC31A was added to Genetic Epilepsy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: SEC31A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC31A were set to 30464055; 40508110
Phenotypes for gene: SEC31A were set to Halperin-Birk syndrome, MIM# 618651
Genetic Epilepsy v1.281 RNU6ATAC Zornitza Stark Marked gene: RNU6ATAC as ready
Genetic Epilepsy v1.281 RNU6ATAC Zornitza Stark Gene: rnu6atac has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.281 NCKAP1 Zornitza Stark Marked gene: NCKAP1 as ready
Genetic Epilepsy v1.281 NCKAP1 Zornitza Stark Gene: nckap1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.281 NCKAP1 Zornitza Stark commented on gene: NCKAP1: 7/17 individuals reported as having seizures.
Genetic Epilepsy v1.281 Zornitza Stark Copied gene NCKAP1 from panel Intellectual disability syndromic and non-syndromic
Genetic Epilepsy v1.281 NCKAP1 Zornitza Stark gene: NCKAP1 was added
gene: NCKAP1 was added to Genetic Epilepsy. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NCKAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NCKAP1 were set to 33157009
Phenotypes for gene: NCKAP1 were set to Neurodevelopmental disorder (MONDO#0700092)​​​​​​​, NCKAP1-related
Genetic Epilepsy v1.280 Zornitza Stark Added reviews for gene GLS from panel Mendeliome
Genetic Epilepsy v1.279 CACNA1A Zornitza Stark Phenotypes for gene: CACNA1A were changed from Developmental and epileptic encephalopathy 42, MIM# 617106 to Developmental and epileptic encephalopathy 42, MIM# 617106; Episodic ataxia, type 2 MIM#108500
Genetic Epilepsy v1.278 CACNA1A Zornitza Stark Mode of inheritance for gene: CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v1.277 CACNA1A Zornitza Stark edited their review of gene: CACNA1A: Added comment: PMID 36063114: further evidence for bi-alleic association. Summarises 10 individuals from 5 families.; Changed publications: 27476654, 36063114
Genetic Epilepsy v1.277 TUBA8 chirag patel Tag disputed tag was added to gene: TUBA8.
Genetic Epilepsy v1.277 TUBA8 chirag patel reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genetic Epilepsy v1.277 PRICKLE1 chirag patel Tag disputed tag was added to gene: PRICKLE1.
Genetic Epilepsy v1.277 CPA6 chirag patel Source Victorian Clinical Genetics Services was removed from CPA6.
Source Australian Genomics Health Alliance Epilepsy Flagship was removed from CPA6.
Source ClinGen was added to CPA6.
Mode of inheritance for gene CPA6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v1.276 CASR chirag patel Marked gene: CASR as ready
Genetic Epilepsy v1.276 CASR chirag patel Gene: casr has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.276 CASR chirag patel gene: CASR was added
gene: CASR was added to Genetic Epilepsy. Sources: ClinGen
disputed tags were added to gene: CASR.
Mode of inheritance for gene: CASR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CASR were set to Epilepsy, MONDO:0005027
Review for gene: CASR was set to RED
Added comment: ClinGen DISPUTED - Mar 2021
Sources: ClinGen
Genetic Epilepsy v1.275 SRPX2 chirag patel Marked gene: SRPX2 as ready
Genetic Epilepsy v1.275 SRPX2 chirag patel Gene: srpx2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.275 SRPX2 chirag patel gene: SRPX2 was added
gene: SRPX2 was added to Genetic Epilepsy. Sources: ClinGen
refuted tags were added to gene: SRPX2.
Mode of inheritance for gene: SRPX2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SRPX2 were set to Epilepsy, MONDO:0005027
Review for gene: SRPX2 was set to RED
Added comment: ClinGen REFUTED - Oct 2023
Sources: ClinGen
Genetic Epilepsy v1.274 SCN9A chirag patel Tag refuted tag was added to gene: SCN9A.
Genetic Epilepsy v1.274 MAGI2 chirag patel reviewed gene: MAGI2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genetic Epilepsy v1.274 MAGI2 chirag patel Deleted their review
Genetic Epilepsy v1.274 MAGI2 chirag patel commented on gene: MAGI2
Genetic Epilepsy v1.274 MAGI2 chirag patel Tag refuted tag was added to gene: MAGI2.
Genetic Epilepsy v1.274 CHRNA7 chirag patel Tag refuted tag was added to gene: CHRNA7.
Genetic Epilepsy v1.274 CRH chirag patel Marked gene: CRH as ready
Genetic Epilepsy v1.274 CRH chirag patel Gene: crh has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.274 CRH chirag patel gene: CRH was added
gene: CRH was added to Genetic Epilepsy. Sources: ClinGen
refuted tags were added to gene: CRH.
Mode of inheritance for gene: CRH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CRH were set to Epilepsy, MONDO:0005027
Review for gene: CRH was set to RED
Added comment: ClinGen REFUTED - Sep 2021
Sources: ClinGen
Genetic Epilepsy v1.273 ADRA2B chirag patel Tag refuted tag was added to gene: ADRA2B.
Genetic Epilepsy v1.273 RPS6KC1 Zornitza Stark Marked gene: RPS6KC1 as ready
Genetic Epilepsy v1.273 RPS6KC1 Zornitza Stark Gene: rps6kc1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.273 STARD9 Zornitza Stark Marked gene: STARD9 as ready
Genetic Epilepsy v1.273 STARD9 Zornitza Stark Gene: stard9 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.273 Zornitza Stark Copied gene STARD9 from panel Mendeliome
Genetic Epilepsy v1.273 STARD9 Zornitza Stark gene: STARD9 was added
gene: STARD9 was added to Genetic Epilepsy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: STARD9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STARD9 were set to 41137852; 28777490
Phenotypes for gene: STARD9 were set to Syndromic disorder (MONDO:0002254), STARD9-related
Genetic Epilepsy v1.272 Rylee Peters Copied gene RPS6KC1 from panel Mendeliome
Genetic Epilepsy v1.272 RPS6KC1 Rylee Peters gene: RPS6KC1 was added
gene: RPS6KC1 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: RPS6KC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPS6KC1 were set to 41130203
Phenotypes for gene: RPS6KC1 were set to Complex neurodevelopmental disorder, MONDO:0100038, RPS6KC1-related
Genetic Epilepsy v1.271 NOL10 Zornitza Stark Marked gene: NOL10 as ready
Genetic Epilepsy v1.271 NOL10 Zornitza Stark Gene: nol10 has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.271 Zornitza Stark Copied gene NOL10 from panel Mendeliome
Genetic Epilepsy v1.271 NOL10 Zornitza Stark gene: NOL10 was added
gene: NOL10 was added to Genetic Epilepsy. Sources: Expert Review Red,Literature
Mode of inheritance for gene: NOL10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NOL10 were set to 41093997
Phenotypes for gene: NOL10 were set to NOL10-related neurological disorder MONDO:0100545
Genetic Epilepsy v1.270 BAIAP2 Zornitza Stark Marked gene: BAIAP2 as ready
Genetic Epilepsy v1.270 BAIAP2 Zornitza Stark Gene: baiap2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.268 Bryony Thompson Copied gene BAIAP2 from panel Mendeliome
Genetic Epilepsy v1.268 BAIAP2 Bryony Thompson gene: BAIAP2 was added
gene: BAIAP2 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: BAIAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BAIAP2 were set to 41133935; 38149472
Phenotypes for gene: BAIAP2 were set to BAIAP2-related complex neurodevelopmental disorder MONDO:0100038
Genetic Epilepsy v1.268 Bryony Thompson Copied gene BAIAP2 from panel Mendeliome
Genetic Epilepsy v1.268 BAIAP2 Bryony Thompson gene: BAIAP2 was added
gene: BAIAP2 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: BAIAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BAIAP2 were set to 41133935; 38149472
Phenotypes for gene: BAIAP2 were set to BAIAP2-related complex neurodevelopmental disorder MONDO:0100038
Genetic Epilepsy v1.267 CXorf56 Zornitza Stark Marked gene: CXorf56 as ready
Genetic Epilepsy v1.267 CXorf56 Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is STEEP1
Genetic Epilepsy v1.267 CXorf56 Zornitza Stark Gene: cxorf56 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.267 CXorf56 Zornitza Stark Tag new gene name tag was added to gene: CXorf56.
Genetic Epilepsy v1.267 CXorf56 Zornitza Stark edited their review of gene: CXorf56: Changed phenotypes: Intellectual developmental disorder, X-linked 107, MIM# 301013
Genetic Epilepsy v1.267 OTUD7A Zornitza Stark Publications for gene: OTUD7A were set to 31997314; 29395075; 29395074; 33381903
Genetic Epilepsy v1.266 OTUD7A Zornitza Stark Classified gene: OTUD7A as Green List (high evidence)
Genetic Epilepsy v1.266 OTUD7A Zornitza Stark Gene: otud7a has been classified as Green List (High Evidence).
Genetic Epilepsy v1.265 OTUD7A Zornitza Stark Tag SV/CNV tag was added to gene: OTUD7A.
Genetic Epilepsy v1.265 SLC31A1 Zornitza Stark Publications for gene: SLC31A1 were set to PMID: 35913762; 36562171; 41040850
Genetic Epilepsy v1.265 SLC31A1 Zornitza Stark Publications for gene: SLC31A1 were set to PMID: 35913762; 36562171
Genetic Epilepsy v1.264 SLC31A1 Zornitza Stark Classified gene: SLC31A1 as Green List (high evidence)
Genetic Epilepsy v1.264 SLC31A1 Zornitza Stark Gene: slc31a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.264 SLC31A1 Zornitza Stark Classified gene: SLC31A1 as Green List (high evidence)
Genetic Epilepsy v1.264 SLC31A1 Zornitza Stark Gene: slc31a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.263 OTUD7A Rylee Peters reviewed gene: OTUD7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29395075, 31997314, 33381903, 36180924, 41028987; Phenotypes: Neurodevelopmental disorder with hypotonia and seizures (MIM#620790), AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.263 SLC31A1 Rylee Peters reviewed gene: SLC31A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 41040850; Phenotypes: Neurodegeneration and seizures due to copper transport defect MIM#620306; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.263 SSPO Zornitza Stark Classified gene: SSPO as Green List (high evidence)
Genetic Epilepsy v1.263 SSPO Zornitza Stark Gene: sspo has been classified as Green List (High Evidence).
Genetic Epilepsy v1.263 SSPO Zornitza Stark Marked gene: SSPO as ready
Genetic Epilepsy v1.263 SSPO Zornitza Stark Gene: sspo has been classified as Green List (High Evidence).
Genetic Epilepsy v1.263 SSPO Zornitza Stark Classified gene: SSPO as Green List (high evidence)
Genetic Epilepsy v1.263 SSPO Zornitza Stark Gene: sspo has been classified as Green List (High Evidence).
Genetic Epilepsy v1.262 Sarah Milton Copied gene SSPO from panel Mendeliome
Genetic Epilepsy v1.262 SSPO Sarah Milton gene: SSPO was added
gene: SSPO was added to Genetic Epilepsy. Sources: Literature
new gene name tags were added to gene: SSPO.
Mode of inheritance for gene: SSPO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SSPO were set to PMID: 41077560
Phenotypes for gene: SSPO were set to Neurodevelopmental disorder, MONDO:0700092, SSPOP-related
Genetic Epilepsy v1.261 BRSK1 Zornitza Stark Marked gene: BRSK1 as ready
Genetic Epilepsy v1.261 BRSK1 Zornitza Stark Gene: brsk1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.261 Zornitza Stark Copied gene BRSK1 from panel Mendeliome
Genetic Epilepsy v1.261 BRSK1 Zornitza Stark gene: BRSK1 was added
gene: BRSK1 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: BRSK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRSK1 were set to 41035394
Phenotypes for gene: BRSK1 were set to Neurodevelopmental disorder, MONDO:0700092, BRSK1-related
Genetic Epilepsy v1.260 GRIA1 Zornitza Stark Phenotypes for gene: GRIA1 were changed from Intellectual developmental disorder, autosomal dominant 67, MIM# 619927 to Intellectual developmental disorder, autosomal dominant 67, MIM# 619927
Genetic Epilepsy v1.260 GRIA1 Zornitza Stark Phenotypes for gene: GRIA1 were changed from Intellectual developmental disorder, autosomal dominant 67, MIM# 619927; Intellectual developmental disorder, autosomal recessive 76, MIM# 619931 to Intellectual developmental disorder, autosomal dominant 67, MIM# 619927
Genetic Epilepsy v1.259 GRIA1 Zornitza Stark Publications for gene: GRIA1 were set to 35675825; 38890806; 37921875
Genetic Epilepsy v1.259 GRIA1 Zornitza Stark Publications for gene: GRIA1 were set to 35675825
Genetic Epilepsy v1.258 GRIA1 Zornitza Stark Mode of inheritance for gene: GRIA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.258 GRIA1 Zornitza Stark Mode of inheritance for gene: GRIA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.257 GRIA1 Zornitza Stark Classified gene: GRIA1 as Green List (high evidence)
Genetic Epilepsy v1.257 GRIA1 Zornitza Stark Gene: gria1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.257 GRIA1 Zornitza Stark Classified gene: GRIA1 as Green List (high evidence)
Genetic Epilepsy v1.257 GRIA1 Zornitza Stark Gene: gria1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.256 GRIA1 Michelle Torres reviewed gene: GRIA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38890806, 37921875; Phenotypes: Intellectual developmental disorder, autosomal dominant 67, MIM# 619927; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.256 KLHL20 Zornitza Stark Phenotypes for gene: KLHL20 were changed from Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, MIM# 621390 to Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, MIM# 621390
Genetic Epilepsy v1.256 KLHL20 Zornitza Stark Phenotypes for gene: KLHL20 were changed from Neurodevelopmental disorder (MONDO:0700092), KLHL20-related to Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, MIM# 621390
Genetic Epilepsy v1.255 KLHL20 Zornitza Stark reviewed gene: KLHL20: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, MIM# 621390; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.255 RNH1 Zornitza Stark Phenotypes for gene: RNH1 were changed from Encephalopathy, acute, infection-induced, susceptibility to, 12 MIM#620461 to Encephalopathy, acute, infection-induced, susceptibility to, 12 MIM#620461
Genetic Epilepsy v1.255 RNH1 Zornitza Stark Phenotypes for gene: RNH1 were changed from Neurodevelopmental disorder, MONDO:0700092, RNH1-related; {Encephalopathy, acute, infection-induced, susceptibiliyt to, 12}, MIM# 620461 to Encephalopathy, acute, infection-induced, susceptibility to, 12 MIM#620461
Genetic Epilepsy v1.254 MDGA2 Zornitza Stark Marked gene: MDGA2 as ready
Genetic Epilepsy v1.254 MDGA2 Zornitza Stark Gene: mdga2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.254 MDGA2 Zornitza Stark Classified gene: MDGA2 as Green List (high evidence)
Genetic Epilepsy v1.254 MDGA2 Zornitza Stark Gene: mdga2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.253 ATP1A3 chirag patel Source Victorian Clinical Genetics Services was removed from ATP1A3.
Source Australian Genomics Health Alliance Epilepsy Flagship was removed from ATP1A3.
Phenotypes for gene: ATP1A3 were changed from developmental and epileptic encephalopathy; early or neonatal onset seizures, polymicrogyria to ATP1A3-associated neurological disorder, MONDO:0700002
Publications for gene ATP1A3 were changed from 33880529, 15260953, 22842232, 24468074, 33762331, 29861155, 31425744 to 33880529, 15260953, 22842232, 24468074, 33762331, 29861155, 31425744
Genetic Epilepsy v1.252 ALG14 chirag patel Publications for gene ALG14 were changed from 30221345, 23404334, 28733338, 33751823, 34971077 to 30221345, 23404334, 28733338, 33751823, 34971077
Genetic Epilepsy v1.251 DNAJC6 chirag patel Source Victorian Clinical Genetics Services was removed from DNAJC6.
Source Australian Genomics Health Alliance Epilepsy Flagship was removed from DNAJC6.
Source Expert list was added to DNAJC6.
Phenotypes for gene: DNAJC6 were changed from Parkinson disease 19b, early-onset, MIM#615528 to Parkinson disease 19a, juvenile-onset - MIM#615528; Parkinson disease 19b, early-onset - MIM#615528
Publications for gene DNAJC6 were changed from 22563501, 23211418, 26528954, 33983693 to 22563501, 23211418, 26528954, 33983693
Genetic Epilepsy v1.250 DHCR24 chirag patel Source Victorian Clinical Genetics Services was removed from DHCR24.
Source Australian Genomics Health Alliance Epilepsy Flagship was removed from DHCR24.
Source Victorian Clinical Genetics Services was removed from DHCR24.
Phenotypes for gene: DHCR24 were changed from Desmosterolosis, MIM# 602398 to Desmosterolosis, MONDO:0011217
Publications for gene DHCR24 were changed from 11519011, 33524375, 21671375, 12457401, 29175559, 21559050, 33027564, 38239854, 30891795, 25637936 to 11519011, 33524375, 21671375, 12457401, 29175559, 21559050, 33027564, 38239854, 30891795, 25637936
Genetic Epilepsy v1.249 UGGT1 Zornitza Stark Phenotypes for gene: UGGT1 were changed from to Congenital disorder of glycosylation, type IICC, MIM# 621381
Genetic Epilepsy v1.248 UGGT1 Zornitza Stark Publications for gene: UGGT1 were set to
Genetic Epilepsy v1.247 UGGT1 Zornitza Stark Mode of inheritance for gene: UGGT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.246 UGGT1 Zornitza Stark reviewed gene: UGGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IICC, MIM# 621381; Mode of inheritance: None
Genetic Epilepsy v1.246 MDGA2 Sangavi Sivagnanasundram gene: MDGA2 was added
gene: MDGA2 was added to Genetic Epilepsy. Sources: Other
Mode of inheritance for gene: MDGA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDGA2 were set to https://doi.org/10.1101/2025.08.28.25330873; 40168357; 27608760
Phenotypes for gene: MDGA2 were set to MDGA2-related neurodevelopmental disorder MONDO:0700092
Review for gene: MDGA2 was set to GREEN
Added comment: Affected individuals present with a broad neurodevelopmental impairment-like phenotype.

Pre-print - https://doi.org/10.1101/2025.08.28.25330873
Individuals with developmental and epileptic encephalopathy (DEE)
8 individuals from 6 consanguineous families exhibiting infantile hypotonia, severe neurodevelopmental delay, intractable seizures, progressive brain atrophy, and consistent dysmorphic features.
7 different biallelic LoF variants were identified
p.Tyr913Ter, p.Arg404Ter, p.Leu920Ter, c.421-1G>A, p.Lys391SerfsTer7 and c.421-96_595+99del - all variants are rare or absent in gnomAD v4.1
In vitro functional studies of three nonsense variants in mammalian expression systems and hippocampal cultured neurons that resulted in impaired MDGA2 membrane trafficking are supportive of a loss-of-function mechanism.

PMID: 40168357, 27608760
A knockout mouse model showed that MGAD2-deficient mice presented with autism-like behaviours (social deficits, repetitive behaviour, and cognitive impairment).
The mice also showed abnormalities in excitatory synapses.
Sources: Other
Genetic Epilepsy v1.246 RNU4-2 chirag patel Classified gene: RNU4-2 as Green List (high evidence)
Genetic Epilepsy v1.246 RNU4-2 chirag patel Gene: rnu4-2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.245 RNU4-2 chirag patel gene: RNU4-2 was added
gene: RNU4-2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: RNU4-2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNU4-2 were set to 38991538
Phenotypes for gene: RNU4-2 were set to Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language, MIM# 620851
Review for gene: RNU4-2 was set to GREEN
Added comment: Over 100 individuals with ID found to have de novo variants in this gene. Please note difficult to identify on ES. Epilepsy seen in 50% cases.
Sources: Expert list
Genetic Epilepsy v1.244 RYR3 Bryony Thompson Publications for gene: RYR3 were set to 25262651
Genetic Epilepsy v1.243 RYR3 Bryony Thompson Classified gene: RYR3 as Amber List (moderate evidence)
Genetic Epilepsy v1.243 RYR3 Bryony Thompson Gene: ryr3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.242 RYR3 Bryony Thompson edited their review of gene: RYR3: Added comment: Epilepsy - mild to severe phenotypes reported with both de novo heterozygous (3) and biallelic (7). However, no supporting functional evidence for a gene-disease association
PMID: 39840699
Families: 7 families (7 unrelated)
Patients: 7 patients
Phenotype: partial seizures, febrile seizures, normal brain MRI
Mode of inheritance: Monoallelic and biallelic (1 de novo heterozygous; 6 compound heterozygous inherited from asymptomatic parents)
Variants: c.12947A>G (missense); c.2747A>C (missense); c.12514G>A (missense); c.3697G>A (missense); c.9994A>G (missense); c.4936G>A (missense); c.10859G>T (missense); c.9917A>G (missense); c.12463G>A (missense); c.11386G>C (missense); c.13690G>C (missense); c.11798C>G (missense); c.13363G>A (missense)
Population Frequency: gnomAD: 0–0.00022 (overall); up to 0.0031 in East Asian controls
Functional: protein modeling (I‑TASSER, PyMOL) and stability predictions (I‑Mutant)
PMID: 39220738, 25262651, 29667327
Families: 4 families (4 unrelated)
Patients: 4 patients
Phenotype: infantile spasm syndrome, developmental regression, multifocal EEG discharges, intractable seizures
Mode of inheritance: Monoallelic (de novo heterozygous; also 1 AR compound heterozygote reported); Changed publications: 25262651, 39840699, 39220738, 29667327; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v1.242 RNU6ATAC Zornitza Stark Classified gene: RNU6ATAC as Red List (low evidence)
Genetic Epilepsy v1.242 RNU6ATAC Zornitza Stark Gene: rnu6atac has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.241 RNU6ATAC Lucy Spencer gene: RNU6ATAC was added
gene: RNU6ATAC was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: RNU6ATAC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU6ATAC were set to 40975062
Phenotypes for gene: RNU6ATAC were set to Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related
Review for gene: RNU6ATAC was set to RED
Added comment: PMID: 40975062 1 patient compound heterozygous for n.36T>G and n.28C>T. Has short stature, microcephaly, hypotonia, neurodevelopmental delay, ID, seizures, ataxia, ventriculomegaly, syndactyly, nystagmus and oculomotor apraxia. Identified in a cohort of individuals with an excess of significant intron retention outliers in minor intron containing genes which are usually removed by the minor spliceosome of which RNU6ATAC is a part (as is RNU4ATAC). Proband had no candidate variants in RNU4ATAC or RNU12. Both RNU6ATAC variants are in a highly conserved 39bp region, and affect nucleotides predicted to be important for binding to U4ATAC.
Sources: Literature
Genetic Epilepsy v1.241 UBR5 Zornitza Stark Phenotypes for gene: UBR5 were changed from Neurodevelopmental disorder MONDO:0700092, UBR5-related to Neurodevelopmental disorder with speech delay and behavioral abnormalities, MIM# 621372
Genetic Epilepsy v1.240 UBR5 Zornitza Stark reviewed gene: UBR5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with speech delay and behavioral abnormalities, MIM# 621372; Mode of inheritance: None
Genetic Epilepsy v1.239 DNM1L chirag patel Source Victorian Clinical Genetics Services was removed from DNM1L.
Source Australian Genomics Health Alliance Epilepsy Flagship was removed from DNM1L.
Source ClinGen was added to DNM1L.
Source Literature was added to DNM1L.
Mode of pathogenicity for gene DNM1L was changed from to Other
Phenotypes for gene: DNM1L were changed from Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 - MIM#614388 (AD, AR) to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MONDO:0013726
Publications for gene DNM1L were changed from 31587467, 27145208, 26604000, 27301544, 26931468, 33718295, 30109270, 26825290, 27328748 to 31587467, 27145208, 26604000, 27301544, 26931468, 33718295, 30109270, 26825290, 27328748
Genetic Epilepsy v1.238 DIAPH1 chirag patel Source Victorian Clinical Genetics Services was removed from DIAPH1.
Source Australian Genomics Health Alliance Epilepsy Flagship was removed from DIAPH1.
Source Literature was added to DIAPH1.
Phenotypes for gene: DIAPH1 were changed from Seizures, cortical blindness, microcephaly syndrome, MIM# 616632 to Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, MONDO:0014714
Publications for gene DIAPH1 were changed from 24781755, 26463574, 33662367, 36212620, 39076976, 39120629 to 24781755, 26463574, 33662367, 36212620, 39076976, 39120629
Genetic Epilepsy v1.237 RNU2-2P Zornitza Stark Publications for gene: RNU2-2P were set to 40210679; 40442284
Genetic Epilepsy v1.236 RNU2-2P Zornitza Stark Mode of inheritance for gene: RNU2-2P was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v1.235 RNU2-2P Zornitza Stark edited their review of gene: RNU2-2P: Added comment: PMID 40950445: reports bi-allelic cases in a cohort of over 100 individuals. One variant frequently de novo in trans with inherited variant.; Changed publications: 40210679, 40442284, 40950445; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v1.235 MRPS36 Zornitza Stark Tag new gene name tag was added to gene: MRPS36.
Genetic Epilepsy v1.235 MRPS36 Krithika Murali Classified gene: MRPS36 as Amber List (moderate evidence)
Genetic Epilepsy v1.235 MRPS36 Krithika Murali Gene: mrps36 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.234 MRPS36 Krithika Murali Classified gene: MRPS36 as Amber List (moderate evidence)
Genetic Epilepsy v1.234 MRPS36 Krithika Murali Gene: mrps36 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.233 MRPS36 Krithika Murali Marked gene: MRPS36 as ready
Genetic Epilepsy v1.233 MRPS36 Krithika Murali Gene: mrps36 has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.233 MRPS36 Krithika Murali gene: MRPS36 was added
gene: MRPS36 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MRPS36 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS36 were set to PMID: 41018056; 38685873
Phenotypes for gene: MRPS36 were set to Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related
Review for gene: MRPS36 was set to AMBER
Added comment: 3 individuals from 2 unrelated families reported with biallelic MRPS36 variants (current HGNC is KGD4). Gene encodes E4 subunit of OGDHC complex. Individuals present with a phenotype consistent with Leigh syndrome including seizures, hypotonia, dystonia, brain imaging anomalies, persistent lactic acidosis. Cardiomyopathy also reported.

Patient-derived fibroblast studies demonstrates reduced OGDHC enzymatic activity, however, this functional evidence is not gene or variant-specific.
Sources: Literature
Genetic Epilepsy v1.232 NDUFAF8 Elena Savva Classified gene: NDUFAF8 as Amber List (moderate evidence)
Genetic Epilepsy v1.232 NDUFAF8 Elena Savva Gene: ndufaf8 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.231 NDUFAF8 Elena Savva Classified gene: NDUFAF8 as Amber List (moderate evidence)
Genetic Epilepsy v1.231 NDUFAF8 Elena Savva Gene: ndufaf8 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.230 NDUFAF8 Elena Savva Marked gene: NDUFAF8 as ready
Genetic Epilepsy v1.230 NDUFAF8 Elena Savva Gene: ndufaf8 has been removed from the panel.
Genetic Epilepsy v1.230 NDUFAF8 Anissa Johnson gene: NDUFAF8 was added
gene: NDUFAF8 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF8 were set to PMID: 31866046; https://doi.org/10.1212/WNL.000000000021206
Phenotypes for gene: NDUFAF8 were set to Mitochondrial complex I deficiency, nuclear type 34, MIM#618776; Leigh Syndrome MONDO:0009723
Review for gene: NDUFAF8 was set to AMBER
Added comment: - Alston 2020: Reported 1 child (subject 1) with Leigh syndrome, who had hypsarrythmic electroencephalogram (EEG) and "regular fleeting seizures". They were compound heterozygous for c.45_52dup (p.Phe18Serfs*32) and c.195+271C>T (p.?), both inherited.
- Sharma 2025: Abstract only. Aims to evaluate the presentation of infantile epileptic spasms syndrome (IESS) in primary mitochondrial disease (PMD). Mentions a single case of NDUFAF8 but specific patient information was not provided.
- 1 VCGS internal patient who was homozygous for the deep intronic variant, c.195+271C>T, who presented with focal onset seizures and ID, who was also heterozygous for a likely pathogenic variant in SCN8A (paternally inherited).
Sources: Literature
Genetic Epilepsy v1.230 INPP4A Zornitza Stark Marked gene: INPP4A as ready
Genetic Epilepsy v1.230 INPP4A Zornitza Stark Gene: inpp4a has been classified as Green List (High Evidence).
Genetic Epilepsy v1.230 INPP4A Zornitza Stark Phenotypes for gene: INPP4A were changed from INPP4A-related neurodevelopmental disorder to Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MIM# 621354
Genetic Epilepsy v1.229 INPP4A Zornitza Stark reviewed gene: INPP4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MIM# 621354; Mode of inheritance: None
Genetic Epilepsy v1.229 ADGRV1 Zornitza Stark Phenotypes for gene: ADGRV1 were changed from Myoclonic epilepsy; febrile seizures; epilepsy; Rolandic epilepsy to Epilepsy, MONDO:0005027, ADGRV1-related
Genetic Epilepsy v1.228 ADGRV1 Zornitza Stark Mode of inheritance for gene: ADGRV1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v1.227 ADGRV1 Zornitza Stark changed review comment from: PMID 40673693: individual with de novo variant and sleep-related hyper motor epilepsy.
PMID 40217298: individual with de novo variant and ictal asystole.
PMID 36399868: enrichment of rare variants, predicted as LP by in-silico tools in an epilepsy cohort.
PMID 34744978: enrichment of rare variants in a Sudanese epilepsy cohort, one individual with homozygous variant was more severely affected.

AMBER for bi-alleic association with epilepsy.; to: PMID 40673693: individual with de novo variant and sleep-related hyper motor epilepsy.
PMID 40217298: individual with de novo variant and ictal asystole.
PMID 36399868: enrichment of rare variants, predicted as LP by in-silico tools in an epilepsy cohort.
PMID 34744978: enrichment of rare variants in a Sudanese epilepsy cohort, one individual with homozygous variant was more severely affected.

AMBER for bi-allelic association with epilepsy.
Genetic Epilepsy v1.227 ADGRV1 Zornitza Stark edited their review of gene: ADGRV1: Added comment: PMID 40673693: individual with de novo variant and sleep-related hyper motor epilepsy.
PMID 40217298: individual with de novo variant and ictal asystole.
PMID 36399868: enrichment of rare variants, predicted as LP by in-silico tools in an epilepsy cohort.
PMID 34744978: enrichment of rare variants in a Sudanese epilepsy cohort, one individual with homozygous variant was more severely affected.

AMBER for bi-alleic association with epilepsy.; Changed publications: 29266188, 29261713, 32962041, 34160719, 40673693, 40217298, 36399868, 34744978
Genetic Epilepsy v1.227 DNM1 chirag patel Source Victorian Clinical Genetics Services was removed from DNM1.
Source Australian Genomics Health Alliance Epilepsy Flagship was removed from DNM1.
Source Victorian Clinical Genetics Services was removed from DNM1.
Source Literature was added to DNM1.
Publications for gene DNM1 were changed from 25262651; 27066543; 33372033; 34172529; 36553519; 37900685 to 25262651; 27066543; 33372033; 34172529; 36553519; 37900685
Genetic Epilepsy v1.226 DNAJC5 chirag patel Phenotypes for gene: DNAJC5 were changed from adult neuronal ceroid lipofuscinosis (MONDO:0019260) to Ceroid lipofuscinosis, neuronal, 4 (Kufs type), MONDO:0008083
Genetic Epilepsy v1.225 DEAF1 chirag patel Phenotypes for gene: DEAF1 were changed from Dyskinesia, seizures, and intellectual developmental disorder 617171; autosomal dominant mental retardation 24, MIM# 615828 to Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures 617171; Vulto-van Silfout-de Vries syndrome 615828
Genetic Epilepsy v1.224 RALGAPA1 Zornitza Stark Phenotypes for gene: RALGAPA1 were changed from Intellectual disability; hypotonia; infantile spasms. to Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation MIM#618797
Genetic Epilepsy v1.223 RALGAPA1 Zornitza Stark edited their review of gene: RALGAPA1: Changed phenotypes: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation MIM#618797
Genetic Epilepsy v1.223 NDE1 Zornitza Stark Phenotypes for gene: NDE1 were changed from Microhydranencephaly 605013; Lissencephaly 4 (with microcephaly) 614019 to Microcephaly with lissencephaly and/or hydranencephaly, MONDO:0700116
Genetic Epilepsy v1.222 NDE1 Zornitza Stark edited their review of gene: NDE1: Changed rating: GREEN; Changed phenotypes: Microcephaly with lissencephaly and/or hydranencephaly, MONDO:0700116; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.222 DALRD3 chirag patel Phenotypes for gene: DALRD3 were changed from Epileptic encephalopathy; Epileptic encephalopathy, early infantile, 86 618910 to Developmental and epileptic encephalopathy, 86 MONDO:0030054
Genetic Epilepsy v1.221 DAB1 chirag patel Source Victorian Clinical Genetics Services was removed from DAB1.
Phenotypes for gene: DAB1 were changed from epilepsy; developmental delay; cerebellar ataxia; structural brain abnormalities; oral motor difficulty to Neurodevelopmental disorder, MONDO:0700092, DAB1-related
Genetic Epilepsy v1.220 ADGRV1 chirag patel Mode of inheritance for gene ADGRV1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Genetic Epilepsy v1.219 ALG2 chirag patel Classified gene: ALG2 as Green List (high evidence)
Genetic Epilepsy v1.219 ALG2 chirag patel Gene: alg2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.219 ALG2 chirag patel Classified gene: ALG2 as Green List (high evidence)
Genetic Epilepsy v1.219 ALG2 chirag patel Gene: alg2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.218 ALG2 chirag patel reviewed gene: ALG2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12684507, 34980536, 23404334, 30397276, 33644825; Phenotypes: Congenital disorder of glycosylation, type Ii, MIM# 607906; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.217 AP2S1 Zornitza Stark Marked gene: AP2S1 as ready
Genetic Epilepsy v1.217 AP2S1 Zornitza Stark Gene: ap2s1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.217 AP2S1 Zornitza Stark Classified gene: AP2S1 as Green List (high evidence)
Genetic Epilepsy v1.217 AP2S1 Zornitza Stark Gene: ap2s1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.216 AP2S1 Zornitza Stark gene: AP2S1 was added
gene: AP2S1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: AP2S1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AP2S1 were set to 31981491; 33057194; 35982160; 35982159
Phenotypes for gene: AP2S1 were set to Neurodevelopmental disorder, MONDO:0700092, AP2S1-related
Review for gene: AP2S1 was set to GREEN
Added comment: Several isolated cases with de novo missense variants in large NDD cohorts PMID: 31981491;33057194;35982160;35982159.

26 unrelated NDD in a preprint with 5 recurring de novo missenses p.Arg10Trp, p.Arg10Gln, p.Lys18Glu, p.Lys18Asn and p.Arg61His https://doi.org/10.1101/2024.07.22.24310683. 70% had epilepsy, 50% brain anomalies.
Sources: Literature
Genetic Epilepsy v1.215 TRAF7 Zornitza Stark Publications for gene: TRAF7 were set to 29961569; 27479843; 28135719; 25363760; 25961944
Genetic Epilepsy v1.214 TRAF7 Zornitza Stark Classified gene: TRAF7 as Green List (high evidence)
Genetic Epilepsy v1.214 TRAF7 Zornitza Stark Gene: traf7 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.213 TRAF7 Leah Frajman reviewed gene: TRAF7: Rating: GREEN; Mode of pathogenicity: None; Publications: 38569228; Phenotypes: Cardiac, facial, and digital anomalies with developmental delay, MIM#618164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.213 CDK5 Zornitza Stark Publications for gene: CDK5 were set to 25560765
Genetic Epilepsy v1.212 CDK5 Zornitza Stark Classified gene: CDK5 as Green List (high evidence)
Genetic Epilepsy v1.212 CDK5 Zornitza Stark Gene: cdk5 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.211 CDK5 Zornitza Stark reviewed gene: CDK5: Rating: GREEN; Mode of pathogenicity: None; Publications: 40186457; Phenotypes: Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.211 TMEM167A Zornitza Stark Marked gene: TMEM167A as ready
Genetic Epilepsy v1.211 TMEM167A Zornitza Stark Gene: tmem167a has been classified as Green List (High Evidence).
Genetic Epilepsy v1.211 COL4A3BP Elena Savva Phenotypes for gene: COL4A3BP were changed from Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies (MIM#616351) to Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies (MIM#616351)
Genetic Epilepsy v1.210 COL4A3BP Elena Savva Phenotypes for gene: COL4A3BP were changed from Intellectual developmental disorder 34 (MIM#616351) to Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies (MIM#616351)
Genetic Epilepsy v1.209 TMEM167A chirag patel Classified gene: TMEM167A as Green List (high evidence)
Genetic Epilepsy v1.209 TMEM167A chirag patel Gene: tmem167a has been classified as Green List (High Evidence).
Genetic Epilepsy v1.208 TMEM167A chirag patel gene: TMEM167A was added
gene: TMEM167A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TMEM167A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM167A were set to PMID: 40924476
Phenotypes for gene: TMEM167A were set to Microcephaly, epilepsy, and diabetes syndrome MONDO:0100328, TMEM167A-related
Review for gene: TMEM167A was set to GREEN
Added comment: 6 individuals from 6 unrelated families (4/6 consanguineous) presenting with neonatal diabetes onset <4mths (6/6), severe microcephaly (6/6), epilepsy (5/6), and developmental delay (4/6).

Whole genome sequencing identified biallelic variants in TMEM167A gene. Variants were homozygous in 5/6 families, and variant types were missense (4), frameshift (1), and splice (1), and all variants were rare/unreported in gnomAD. Segregation studies not reported in paper.

Microcephaly, epilepsy and diabetes syndrome has 2 known associated genes (IER3IP1 and YIPF5) which encode proteins involved in endoplasmic reticulum to Golgi trafficking. TMEM167A is highly expressed in developing and adult human pancreas and brain. Both TMEM167A depletion in EndoC-βH1 cells and knock‑in of p.Val59Glu variant in iPSC-derived β cells sensitized β cells to ER stress. The p.Val59Glu variant impaired proinsulin trafficking to the Golgi and induced iPSC-β cell dysfunction.
Sources: Literature
Genetic Epilepsy v1.207 ALDH4A1 Zornitza Stark Marked gene: ALDH4A1 as ready
Genetic Epilepsy v1.207 ALDH4A1 Zornitza Stark Gene: aldh4a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.207 ALDH4A1 Zornitza Stark Classified gene: ALDH4A1 as Green List (high evidence)
Genetic Epilepsy v1.207 ALDH4A1 Zornitza Stark Gene: aldh4a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.206 ALDH4A1 Sinead OSullivan gene: ALDH4A1 was added
gene: ALDH4A1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH4A1 were set to 9700195, 31884946
Phenotypes for gene: ALDH4A1 were set to Hyperprolinaemia, type II, MIM#239510
Review for gene: ALDH4A1 was set to GREEN
Added comment: At least 5 unrelated families reported, clinical features are predominantly ID and seizures.
Sources: Expert list
Genetic Epilepsy v1.206 DHRS9 Zornitza Stark changed review comment from: PMID 32752300: compound het missekse variants in an individual with epilepsy.
PMID 38256219: put forward as a candidate gene in an epilepsy cohort, compound het missense variants identified c.785C>T (p.Ser262Leu) and c.1036G>C (p.Asp346His).; to: PMID 32752300: compound het missense variants in an individual with epilepsy.
PMID 38256219: put forward as a candidate gene in an epilepsy cohort, compound het missense variants identified c.785C>T (p.Ser262Leu) and c.1036G>C (p.Asp346His).
Genetic Epilepsy v1.206 DHRS9 Zornitza Stark changed review comment from: Single individual reported with compound heterozygous missense variants, c.605C>T (p.S202L); c.856G>C (p.D286H) and early onset epilepsy. Functional studies conducted on both variants separately, demonstrating loss of function.
Sources: Literature; to: PMID 40945732: Single individual reported with compound heterozygous missense variants, c.605C>T (p.S202L); c.856G>C (p.D286H) and early onset epilepsy. Functional studies conducted on both variants separately, demonstrating loss of function.
Sources: Literature
Genetic Epilepsy v1.206 DHRS9 Zornitza Stark Publications for gene: DHRS9 were set to 40945732
Genetic Epilepsy v1.205 DHRS9 Zornitza Stark Marked gene: DHRS9 as ready
Genetic Epilepsy v1.205 DHRS9 Zornitza Stark Gene: dhrs9 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.205 DHRS9 Zornitza Stark Classified gene: DHRS9 as Amber List (moderate evidence)
Genetic Epilepsy v1.205 DHRS9 Zornitza Stark Gene: dhrs9 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.204 DHRS9 Zornitza Stark edited their review of gene: DHRS9: Added comment: PMID 32752300: compound het missekse variants in an individual with epilepsy.
PMID 38256219: put forward as a candidate gene in an epilepsy cohort, compound het missense variants identified c.785C>T (p.Ser262Leu) and c.1036G>C (p.Asp346His).; Changed rating: AMBER; Changed publications: 40945732, 32752300, 38256219
Genetic Epilepsy v1.204 DHRS9 Zornitza Stark gene: DHRS9 was added
gene: DHRS9 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: DHRS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHRS9 were set to 40945732
Phenotypes for gene: DHRS9 were set to Genetic epilepsy, MONDO:0100575, DHRS9
Review for gene: DHRS9 was set to RED
Added comment: Single individual reported with compound heterozygous missense variants, c.605C>T (p.S202L); c.856G>C (p.D286H) and early onset epilepsy. Functional studies conducted on both variants separately, demonstrating loss of function.
Sources: Literature
Genetic Epilepsy v1.203 ELFN1 Zornitza Stark Phenotypes for gene: ELFN1 were changed from Neurodevelopmental disorder, MONDO:0700092, ELFN1-related to Dursun-Ozgul neurodevelopmental syndrome, MIM# 621344
Genetic Epilepsy v1.202 ELFN1 Zornitza Stark reviewed gene: ELFN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dursun-Ozgul neurodevelopmental syndrome, MIM# 621344; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.202 PRRT2 Zornitza Stark Phenotypes for gene: PRRT2 were changed from Convulsions, familial infantile, with paroxysmal choreoathetosis 602066; Episodic kinesigenic dyskinesia 1 128200; Seizures, benign familial infantile, 2 605751 to PRRT2-associated paroxysmal movement disorder MONDO:0100556
Genetic Epilepsy v1.201 PRRT2 Zornitza Stark edited their review of gene: PRRT2: Changed phenotypes: PRRT2-associated paroxysmal movement disorder MONDO:0100556
Genetic Epilepsy v1.201 KCNA4 Zornitza Stark Marked gene: KCNA4 as ready
Genetic Epilepsy v1.201 KCNA4 Zornitza Stark Gene: kcna4 has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.201 KCNA4 Zornitza Stark gene: KCNA4 was added
gene: KCNA4 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KCNA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNA4 were set to 40472070
Phenotypes for gene: KCNA4 were set to Epilepsy, MONDO:0005027, KCNA4-related
Review for gene: KCNA4 was set to RED
Added comment: Single individual with de novo missense variant reported.
Sources: Literature
Genetic Epilepsy v1.200 GBX1 Zornitza Stark Marked gene: GBX1 as ready
Genetic Epilepsy v1.200 GBX1 Zornitza Stark Gene: gbx1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.200 GBX1 Zornitza Stark gene: GBX1 was added
gene: GBX1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GBX1 were set to 40519143
Phenotypes for gene: GBX1 were set to Neurodevelopmental disorder, MONDO:0700092, GBX1-related
Review for gene: GBX1 was set to RED
Added comment: Single individual with de novo LoF variant with DD and focal epilepsy. Zebrafish model had abnormal morphology of the interocular area. Furthermore, the zebrafish larvae exhibited an increased susceptibility to neurophysiological abnormalities associated with epileptiform activity.
Sources: Literature
Genetic Epilepsy v1.199 ATP5A1 Zornitza Stark Phenotypes for gene: ATP5A1 were changed from Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228 to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A MIM#620358; Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228
Genetic Epilepsy v1.198 ATP5A1 Zornitza Stark Publications for gene: ATP5A1 were set to 23599390
Genetic Epilepsy v1.197 ATP5A1 Zornitza Stark Mode of inheritance for gene: ATP5A1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.196 ATP5A1 Zornitza Stark edited their review of gene: ATP5A1: Changed publications: 23599390, 23596069
Genetic Epilepsy v1.196 ATP5A1 Zornitza Stark changed review comment from: Two unrelated families.; to: Two unrelated families. Evidence for bi-allelic disease is limited. In one of the families, PMID 23599390, only a paternally inherited variant was identified, maternal variant presumed based on functional studies but not actually identified. In the other family, PMID 23596069, the variant identified is a homozygous missense.
Genetic Epilepsy v1.196 TMEM184B Zornitza Stark Marked gene: TMEM184B as ready
Genetic Epilepsy v1.196 TMEM184B Zornitza Stark Gene: tmem184b has been classified as Green List (High Evidence).
Genetic Epilepsy v1.196 TMEM184B Zornitza Stark Classified gene: TMEM184B as Green List (high evidence)
Genetic Epilepsy v1.196 TMEM184B Zornitza Stark Gene: tmem184b has been classified as Green List (High Evidence).
Genetic Epilepsy v1.195 TMEM184B Lucy Spencer gene: TMEM184B was added
gene: TMEM184B was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TMEM184B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TMEM184B were set to 39006436
Phenotypes for gene: TMEM184B were set to Neurodevelopmental disorder (MONDO:0700092), TMEM184B-related
Review for gene: TMEM184B was set to GREEN
Added comment: A cohort of 6 patients with developmental delay (5/6), corpus callosum hypoplasia (4/6), microcephaly (1/6), seizures (3/6), and ID (2/6). 2 patients also had gastrointestinal motility disruption. All 6 have de novo variants in TMEM184B, 5 missense 1 canonical splice. 1 of the missense variants has 35 hets in gnomad but the rest are absent. The authors also say they are aware of a 7th patient with overlapping features by personal communication.

A knockout zebrafish model showed a dose dependent reduction in head size and body length in larvae. Knock-in of 2 of the missense variants also showed head size and body length reduction, but the other missense did not. However the other three missense failed to rescue the phenotype of a knockout zebrafish while WT and a negative control did. The authors suggest the first 2 variants are dominant negative while the latter three and loss of function.

The splice variant was shown to cause exon 7 skipping which is out of frame.

Transfection of the missense and splice variants in HEK293T cells showed that all but 1 had reduced TMEM184B protein levels.
Sources: Literature
Genetic Epilepsy v1.195 CSMD2 Krithika Murali changed review comment from: PMID: 40632521 Li et al 2025 (Epilepsia) reported 6 unrelated individuals of Han Chinese descent with biallelic CSMD2 missense variants (NM_052896) and focal epilepsy. 5 individuals were compound heterozygous and one was homozygous. These individuals were ascertained through trio WES analysis of 420 unrelated individuals with focal epilepsy enrolled in the China Epilepsy Gene 1.0 project.

Phenotypic features
- age of onset 1.5-10 years old
- complex partial seizures (4), secondary GTCS (2)
- Normal MRI-B (3), focal cortical dysplasia (1)
- mild ID (1).

The variants were noted to be rare in EXAC-East Asian cohort, most located in CUB/Sushi domains. The gene has some evidence of missense and LoF constraint in gnomAD v4. There was also enrichment of biallelic CSMD2 variants in affected individuals versus a control cohort of unaffected parents (5/420 compound hets affected individuals, 3/1942 compound hets in unaffected parents). Previous mouse Csmd2 knockdown models demonstrated reduction in dendritic spine density and complexity. LoF is the postulated disease mechanism.

Closely related gene paralog CSMD1 has a definitive association with autosomal recessive complex neurodevelopmental disorder with a more severe phenotype. Different expression profiles during developmental stages between CSMD1 and CSMD2 postulated for the comparatively milder phenotype associated with the latter.

CSMD2 has 71 exons and 3631 amino acids. The true prevalence of biallelic missense variants in healthy individuals across diverse ancestries has not been ascertained. Review of the missense variants in this study highlighted issues in a number of them including poor-moderate conservation, conflicting or benign in silicos including REVEL, non-coding in an alternative transcript, Case 4 p.Val1547Ile homozygote – this variant has been noted in an East Asian male homozygote aged between 45-50 in gnomAD v4. In addition, no information about unaffected siblings and segregation testing has been provided.

Given prevalence of focal epilepsy, stronger case-control evidence from diverse ancestries and variant-specific functional evidence is required to support this proposed gene-disease association.
Sources: Literature; to: PMID: 40632521 Li et al 2025 (Epilepsia) reported 6 unrelated individuals of Han Chinese descent with biallelic CSMD2 missense variants (NM_052896) and focal epilepsy. 5 individuals were compound heterozygous and one was homozygous. These individuals were ascertained through trio WES analysis of 420 unrelated individuals with focal epilepsy enrolled in the China Epilepsy Gene 1.0 project.

Phenotypic features
- age of onset 1.5-10 years old
- complex partial seizures (4), secondary GTCS (2)
- Normal MRI-B (3), focal cortical dysplasia (1)
- mild ID (1).

The variants were noted to be rare in EXAC-East Asian cohort, most located in CUB/Sushi domains. The gene has some evidence of missense and LoF constraint in gnomAD v4. There was also enrichment of biallelic CSMD2 variants in affected individuals versus a control cohort of unaffected parents (5/420 compound hets affected individuals, 3/1942 compound hets in unaffected parents). Previous mouse Csmd2 knockdown models demonstrated reduction in dendritic spine density and complexity. LoF is the postulated disease mechanism.

Closely related gene paralog CSMD1 has a definitive association with autosomal recessive complex neurodevelopmental disorder with a more severe phenotype. Different expression profiles during developmental stages between CSMD1 and CSMD2 postulated for the comparatively milder phenotype associated with the latter.

CSMD2 has 71 exons and 3631 amino acids. The true prevalence of biallelic missense variants in healthy individuals across diverse ancestries has not been ascertained. Review of the missense variants in this study highlighted issues in a number of them including poor-moderate conservation, conflicting or benign in silicos including REVEL, non-coding in an alternative transcript, Case 4 p.Val1547Ile homozygote – this variant has been noted in an East Asian male homozygote aged between 45-50 in gnomAD v4. In addition, no information about unaffected/affected siblings and segregation testing has been provided.

Given prevalence of focal epilepsy, stronger case-control evidence from diverse ancestries and variant-specific functional evidence is required to support this proposed gene-disease association.
Sources: Literature
Genetic Epilepsy v1.195 CSMD2 Krithika Murali changed review comment from: PMID: 40632521 Li et al 2025 (Epilepsia) reported 6 unrelated individuals of Han Chinese descent with biallelic CSMD2 missense variants (NM_052896) and focal epilepsy. 5 individuals were compound heterozygous and one was homozygous. These individuals were ascertained through trio WES analysis of 420 unrelated individuals with focal epilepsy enrolled in the China Epilepsy Gene 1.0 project.

Phenotypic features
- age of onset 1.5-10 years old
- complex partial seizures (4), secondary GTCS (2)
- Normal MRI-B (3), focal cortical dysplasia (1)
- mild ID (1).

The variants were noted to be rare in EXAC-East Asian cohort, most located in CUB/Sushi domains. The gene has some evidence of missense and LoF constraint in gnomAD v4. There was also enrichment of biallelic CSMD2 variants in affected individuals versus a control cohort of unaffected parents (5/420 compound hets affected individuals, 3/1942 compound hets in unaffected parents). Previous mouse Csmd2 knockdown models demonstrated reduction in dendritic spine density and complexity. LoF is the postulated disease mechanism.

Closely related gene paralog CSMD1 has a definitive association with autosomal recessive complex neurodevelopmental disorder with a more severe phenotype. Different expression profiles during developmental stages between CSMD1 and CSMD2 postulated for the comparatively milder phenotype associated with the latter.

CSMD2 has 71 exons and 3631 amino acids. The true prevalence of biallelic missense variants in healthy individuals across diverse ancestries has not been ascertained. Review of the missense variants in this study highlighted issues in a number of them including poor-moderate conservation, conflicting or benign in silicos including REVEL, non-coding in an alternative transcript, Case 4 p.Val1547Ile homozygote – this variant has been noted in an East Asian male homozygote aged between 45-50 in gnomAD v4.

Given prevalence of focal epilepsy, stronger case-control evidence from diverse ancestries and variant-specific functional evidence is required to support this proposed gene-disease association.
Sources: Literature; to: PMID: 40632521 Li et al 2025 (Epilepsia) reported 6 unrelated individuals of Han Chinese descent with biallelic CSMD2 missense variants (NM_052896) and focal epilepsy. 5 individuals were compound heterozygous and one was homozygous. These individuals were ascertained through trio WES analysis of 420 unrelated individuals with focal epilepsy enrolled in the China Epilepsy Gene 1.0 project.

Phenotypic features
- age of onset 1.5-10 years old
- complex partial seizures (4), secondary GTCS (2)
- Normal MRI-B (3), focal cortical dysplasia (1)
- mild ID (1).

The variants were noted to be rare in EXAC-East Asian cohort, most located in CUB/Sushi domains. The gene has some evidence of missense and LoF constraint in gnomAD v4. There was also enrichment of biallelic CSMD2 variants in affected individuals versus a control cohort of unaffected parents (5/420 compound hets affected individuals, 3/1942 compound hets in unaffected parents). Previous mouse Csmd2 knockdown models demonstrated reduction in dendritic spine density and complexity. LoF is the postulated disease mechanism.

Closely related gene paralog CSMD1 has a definitive association with autosomal recessive complex neurodevelopmental disorder with a more severe phenotype. Different expression profiles during developmental stages between CSMD1 and CSMD2 postulated for the comparatively milder phenotype associated with the latter.

CSMD2 has 71 exons and 3631 amino acids. The true prevalence of biallelic missense variants in healthy individuals across diverse ancestries has not been ascertained. Review of the missense variants in this study highlighted issues in a number of them including poor-moderate conservation, conflicting or benign in silicos including REVEL, non-coding in an alternative transcript, Case 4 p.Val1547Ile homozygote – this variant has been noted in an East Asian male homozygote aged between 45-50 in gnomAD v4. In addition, no information about unaffected siblings and segregation testing has been provided.

Given prevalence of focal epilepsy, stronger case-control evidence from diverse ancestries and variant-specific functional evidence is required to support this proposed gene-disease association.
Sources: Literature
Genetic Epilepsy v1.195 CSMD2 Krithika Murali Marked gene: CSMD2 as ready
Genetic Epilepsy v1.195 CSMD2 Krithika Murali Gene: csmd2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.195 CSMD2 Krithika Murali gene: CSMD2 was added
gene: CSMD2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CSMD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSMD2 were set to PMID: 40632521; 31068362; 38649688
Phenotypes for gene: CSMD2 were set to Focal epilepsy - MONDO:0005384, CSMD2-related
Review for gene: CSMD2 was set to RED
Added comment: PMID: 40632521 Li et al 2025 (Epilepsia) reported 6 unrelated individuals of Han Chinese descent with biallelic CSMD2 missense variants (NM_052896) and focal epilepsy. 5 individuals were compound heterozygous and one was homozygous. These individuals were ascertained through trio WES analysis of 420 unrelated individuals with focal epilepsy enrolled in the China Epilepsy Gene 1.0 project.

Phenotypic features
- age of onset 1.5-10 years old
- complex partial seizures (4), secondary GTCS (2)
- Normal MRI-B (3), focal cortical dysplasia (1)
- mild ID (1).

The variants were noted to be rare in EXAC-East Asian cohort, most located in CUB/Sushi domains. The gene has some evidence of missense and LoF constraint in gnomAD v4. There was also enrichment of biallelic CSMD2 variants in affected individuals versus a control cohort of unaffected parents (5/420 compound hets affected individuals, 3/1942 compound hets in unaffected parents). Previous mouse Csmd2 knockdown models demonstrated reduction in dendritic spine density and complexity. LoF is the postulated disease mechanism.

Closely related gene paralog CSMD1 has a definitive association with autosomal recessive complex neurodevelopmental disorder with a more severe phenotype. Different expression profiles during developmental stages between CSMD1 and CSMD2 postulated for the comparatively milder phenotype associated with the latter.

CSMD2 has 71 exons and 3631 amino acids. The true prevalence of biallelic missense variants in healthy individuals across diverse ancestries has not been ascertained. Review of the missense variants in this study highlighted issues in a number of them including poor-moderate conservation, conflicting or benign in silicos including REVEL, non-coding in an alternative transcript, Case 4 p.Val1547Ile homozygote – this variant has been noted in an East Asian male homozygote aged between 45-50 in gnomAD v4.

Given prevalence of focal epilepsy, stronger case-control evidence from diverse ancestries and variant-specific functional evidence is required to support this proposed gene-disease association.
Sources: Literature
Genetic Epilepsy v1.194 NSF Zornitza Stark Classified gene: NSF as Green List (high evidence)
Genetic Epilepsy v1.194 NSF Zornitza Stark Gene: nsf has been classified as Green List (High Evidence).
Genetic Epilepsy v1.193 NSF Zornitza Stark Classified gene: NSF as Green List (high evidence)
Genetic Epilepsy v1.193 NSF Zornitza Stark Gene: nsf has been classified as Green List (High Evidence).
Genetic Epilepsy v1.192 NSF Zornitza Stark edited their review of gene: NSF: Added comment: Personal communication of additional cases with de novo variants and epilepsy; internal case at VCGS.; Changed rating: GREEN
Genetic Epilepsy v1.192 RNF2 Zornitza Stark Publications for gene: RNF2 were set to 33864376
Genetic Epilepsy v1.191 RNF2 Zornitza Stark Classified gene: RNF2 as Green List (high evidence)
Genetic Epilepsy v1.191 RNF2 Zornitza Stark Gene: rnf2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.190 RNF2 Zornitza Stark edited their review of gene: RNF2: Added comment: PMID 40831499 is a preprint which identifies additional individuals with de novo variants. p.S82R is recurrent. Functional data to support gene-disease association.; Changed rating: GREEN; Changed publications: 33864376, 40831499
Genetic Epilepsy v1.190 C1orf109 Zornitza Stark Marked gene: C1orf109 as ready
Genetic Epilepsy v1.190 C1orf109 Zornitza Stark Gene: c1orf109 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.190 C1orf109 Zornitza Stark Classified gene: C1orf109 as Green List (high evidence)
Genetic Epilepsy v1.190 C1orf109 Zornitza Stark Gene: c1orf109 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.189 C1orf109 Zornitza Stark gene: C1orf109 was added
gene: C1orf109 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: C1orf109 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C1orf109 were set to 40760247
Phenotypes for gene: C1orf109 were set to Neurodevelopmental disorder, MONDO:0700092, C1orf109-related
Review for gene: C1orf109 was set to GREEN
Added comment: Cohort of 11 unrelated families, encompassing 18 individuals with bi-allelic variants in C1orf109, 17 liveborn. Affected individuals presented with moderate-to-severe or severe global developmental delay/intellectual disability (17 of 17) and never achieved developmental milestones. Microcephaly and seizures were other common features. Reduced ribosome activity demonstrated during early brain development.
Sources: Literature
Genetic Epilepsy v1.188 ISPD Zornitza Stark Marked gene: ISPD as ready
Genetic Epilepsy v1.188 ISPD Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is CRPPA.
Genetic Epilepsy v1.188 ISPD Zornitza Stark Gene: ispd has been classified as Green List (High Evidence).
Genetic Epilepsy v1.188 ISPD Zornitza Stark Tag new gene name tag was added to gene: ISPD.
Genetic Epilepsy v1.188 CSMD3 Zornitza Stark Marked gene: CSMD3 as ready
Genetic Epilepsy v1.188 CSMD3 Zornitza Stark Gene: csmd3 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.188 CSMD3 Zornitza Stark Classified gene: CSMD3 as Green List (high evidence)
Genetic Epilepsy v1.188 CSMD3 Zornitza Stark Gene: csmd3 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.187 BORCS5 Zornitza Stark Marked gene: BORCS5 as ready
Genetic Epilepsy v1.187 BORCS5 Zornitza Stark Gene: borcs5 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.187 BORCS5 Zornitza Stark Classified gene: BORCS5 as Green List (high evidence)
Genetic Epilepsy v1.187 BORCS5 Zornitza Stark Gene: borcs5 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.186 BORCS5 Zornitza Stark gene: BORCS5 was added
gene: BORCS5 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: BORCS5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BORCS5 were set to 40385417
Phenotypes for gene: BORCS5 were set to Lysosomal storage disease, MONDO:0002561, BORCS5-related
Review for gene: BORCS5 was set to GREEN
Added comment: preprint PMID 40385417, describing 12 individuals from 7 families with a spectrum of abnormalities (osteopetrosis not mentioned), suggestive of lysosomal disorder.

Homozygous loss-of-function variants presented with prenatally lethal arthrogryposis multiplex congenita, brain malformations, and neuropathological evidence of diffuse neuroaxonal dystrophy. Individuals with missense variants presented differently, with microcephaly, developmental epileptic encephalopathy, intellectual disability, optic atrophy, spasticity, and progressive movement disorders. In this group, brain MRI showed diffuse hypomyelination and progressive global cerebral atrophy, consistent with neurodegeneration. Borcs5 knockout in zebrafish exhibited microcephaly, motor deficits, and seizures, mirroring the patients' clinical presentation. At the cellular level, BORCS5 loss-of-function but not missense variants, resulted in lower protein expression and impaired BORC assembly, paralleled by perinuclear lysosomal clustering. However, both loss-of-function and missense BORCS5 variants were associated with reduced total lysosomal proteolysis, reduced activity of the lysosomal hydrolases glucocerebrosidase and cathepsin B, and presence of multilamellar bodies, indicating lysosomal dysfunction.
Sources: Literature
Genetic Epilepsy v1.185 CSMD3 Sarah Milton gene: CSMD3 was added
gene: CSMD3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CSMD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSMD3 were set to PMID: 40632521
Phenotypes for gene: CSMD3 were set to Epilepsy, MONDO:0005027, CSMD3-related
Review for gene: CSMD3 was set to GREEN
Added comment: CSMD3 encodes a synaptic membrane proteins and play a role in neuronal maturation/growth dendrites. A related protein CSMD1 has been previously associated with a complex neurodevelopmental disorder.

PMID: 40632521 describes 8 individuals with seizures. 4 with focal epilepsy, 3 with febrile seizures and 1 individual with infantile spasms. 1 individual described had a de novo missense variant with remainder having comp het/biallelic variants. Mild ID in 1 individual only.

Variant type mostly missense variants with 1 nonsense, all appropriately rare in gnomAD v4 for recessive disorder.

No variant specific functional studies performed, no clear discussion in paper about postulated mechanism for disease. No discussion around difference in mechanism for de novo monoallelic variant.

Previous studies showed homozygous knockout mice display abnormal neuronal proliferation and growth retardation.
Sources: Literature
Genetic Epilepsy v1.185 CCDC186 Zornitza Stark Phenotypes for gene: CCDC186 were changed from Epileptic encephalopathy to Neurodevelopmental disorder, MONDO:0700092, CCDC186-related
Genetic Epilepsy v1.184 CCDC186 Zornitza Stark Publications for gene: CCDC186 were set to 33259146
Genetic Epilepsy v1.183 CCDC186 Zornitza Stark Classified gene: CCDC186 as Green List (high evidence)
Genetic Epilepsy v1.183 CCDC186 Zornitza Stark Gene: ccdc186 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.182 CCDC186 Zornitza Stark edited their review of gene: CCDC186: Added comment: PMID 40633195: Individual with another bi-allelic LoF variant reported, NM_018017.4:c.535C>T (p.Arg179Ter), presenting with seizures, ID and microcephaly.

PMID: two Gypsy families reported, with same homozygous variant, c.2215C>T, p.Arg739Ter. EE was part of the phenotype, although the phenotype was broader.; Changed rating: GREEN; Changed publications: 33259146, 37569695, 40633195; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CCDC186-related
Genetic Epilepsy v1.182 NALCN Zornitza Stark Phenotypes for gene: NALCN were changed from Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419) to Congenital contractures of the limbs and face, hypotonia, and developmental delay - MIM#616266; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 - MIM#615419
Genetic Epilepsy v1.181 NALCN Zornitza Stark Publications for gene: NALCN were set to 30167850
Genetic Epilepsy v1.180 NALCN Zornitza Stark Mode of inheritance for gene: NALCN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v1.179 NALCN Zornitza Stark reviewed gene: NALCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25683120, 35388452, 28327206, 27473021, 27558372; Phenotypes: Congenital contractures of the limbs and face, hypotonia, and developmental delay - MIM#616266, Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 - MIM#615419; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v1.179 TRIO Zornitza Stark Mode of inheritance for gene: TRIO was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.178 TRIO Chris Ciotta reviewed gene: TRIO: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 32109419, 28796471; Phenotypes: Intellectual developmental disorder, autosomal dominant 44, with microcephaly (MIM#617061), Intellectual developmental disorder, autosomal dominant 63, with macrocephaly (MIM#618825), Syndromic intellectual disability (MONDO:0000508), TRIO-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Genetic Epilepsy v1.178 SNX27 Zornitza Stark Phenotypes for gene: SNX27 were changed from intellectual disability; seizures to Neurodevelopmental disorder MONDO:0700092, SNX27-related
Genetic Epilepsy v1.177 SNX27 Zornitza Stark edited their review of gene: SNX27: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, SNX27-related
Genetic Epilepsy v1.177 RNU2-2P Zornitza Stark Phenotypes for gene: RNU2-2P were changed from Neurodevelopmental disorder, MONDO:0700092, RNU2-2-related to Developmental and epileptic encephalopathy 119, MIM# 621304
Genetic Epilepsy v1.176 RNU2-2P Zornitza Stark Publications for gene: RNU2-2P were set to 40210679
Genetic Epilepsy v1.175 RNU2-2P Zornitza Stark edited their review of gene: RNU2-2P: Changed publications: 40210679, 40442284; Changed phenotypes: Developmental and epileptic encephalopathy 119, MIM# 621304
Genetic Epilepsy v1.175 BLOC1S1 Zornitza Stark Marked gene: BLOC1S1 as ready
Genetic Epilepsy v1.175 BLOC1S1 Zornitza Stark Gene: bloc1s1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.175 BLOC1S1 Zornitza Stark Publications for gene: BLOC1S1 were set to https://www.medrxiv.org/content/10.1101/2025.07.17.25331211v1
Genetic Epilepsy v1.174 BLOC1S1 Zornitza Stark Classified gene: BLOC1S1 as Green List (high evidence)
Genetic Epilepsy v1.174 BLOC1S1 Zornitza Stark Gene: bloc1s1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.173 BLOC1S1 Zornitza Stark reviewed gene: BLOC1S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33875846; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), BLOC1S1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.173 ST5 Zornitza Stark Marked gene: ST5 as ready
Genetic Epilepsy v1.173 ST5 Zornitza Stark Gene: st5 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.173 ST5 Zornitza Stark Classified gene: ST5 as Green List (high evidence)
Genetic Epilepsy v1.173 ST5 Zornitza Stark Gene: st5 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.172 ST5 Zornitza Stark Tag new gene name tag was added to gene: ST5.
Genetic Epilepsy v1.172 ST5 Rylee Peters gene: ST5 was added
gene: ST5 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ST5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ST5 were set to PMID: 40717498
Phenotypes for gene: ST5 were set to Neurodevelopmental disorder (MONDO:0700092), DENND2B-related
Review for gene: ST5 was set to GREEN
Added comment: HGNC: DENND2B
Cohort of 11 individuals all with a history of motor and/or language developmental delay, intellectual disability in 6/11 (mild to severe), brain structure/function abnormalities were reported in 9/11 patients (7/11 seizures; 5/9 abnormal findings on brain MRI), muscle weakness/hypotonia in 8/9, psychosis in 4/10 patients, symptoms of catatonia in 4/10, other psychiatric/behavioural concerns (anxiety, attention deficit, autism or autistic features) in 10/10.

Total of 10 variants including 2x frameshift/nonsense, 6x missense, 1x splice, 1x single amino acid deletion – all absent from v4 and de novo except 1 inherited from a father with cognitive and psychiatric symptoms and the inframe del which has 2 hets in gnomAD and is inherited an unaffected father (no formal assessment).

In vivo zebrafish modelling measuring cilia length suggests that patient variants tested (9/10 excluding the splice variant) did not induce cilia length shortening, which is consistent with KO models and therefore a loss of function effect.
Sources: Literature
Genetic Epilepsy v1.172 BLOC1S1 Rylee Peters gene: BLOC1S1 was added
gene: BLOC1S1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: BLOC1S1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BLOC1S1 were set to https://www.medrxiv.org/content/10.1101/2025.07.17.25331211v1
Phenotypes for gene: BLOC1S1 were set to Neurodevelopmental disorder (MONDO:0700092), BLOC1S1-related
Review for gene: BLOC1S1 was set to GREEN
Added comment: De Pace et al. 2025 [preprint] doi: https://doi.org/10.1101/2025.07.17.25331211
11 individuals from seven unrelated families (includes 4 individuals from 3 families described in Bertoli-Avella PMID: 33875846), with severe neurodevelopmental disorder and harbour biallelic variants of BLOC1S1.

The disorder presents with early infantile onset and is characterised by deficient myelination, global developmental delay, intellectual disability, hypotonia, epilepsy, and visual impairment (bilateral optic atrophy in most). The severity ranged from early death to a milder form with preserved ambulation and single-word communication. All individuals harbouring BLOC1S1 variants with available neuroimaging exhibit hypomyelinating leukodystrophy.

Functional analyses show that BLOC1S1 KO impairs the anterograde transport of lysosomes and autophagy in both non-neuronal cells and iPSC-derived neurons. Missense variants displayed various combinations of defective expression, assembly, lysosome dispersal and/or autophagy. The frameshift variant showed the most severe deficiencies in tested assays.
Sources: Literature
Genetic Epilepsy v1.172 SNW1 Zornitza Stark Marked gene: SNW1 as ready
Genetic Epilepsy v1.172 SNW1 Zornitza Stark Gene: snw1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.172 SNW1 Zornitza Stark Classified gene: SNW1 as Green List (high evidence)
Genetic Epilepsy v1.172 SNW1 Zornitza Stark Gene: snw1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.171 SNW1 Lucy Spencer gene: SNW1 was added
gene: SNW1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SNW1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SNW1 were set to 40608414
Phenotypes for gene: SNW1 were set to Neurodevelopmental disorder (MONDO:0700092), SNW1-related
Review for gene: SNW1 was set to GREEN
Added comment: cohort of 9 patients with moderate to profound ID, microcephaly, seizures (7/9), facial dysmorphism, and brain malformations (6/9 - corpus callosum hypoplasia, Dandy-Walker malformation).

3 splice, 1 frameshift, 2 missense, 3 in frame deletions, 1 start loss. all but 1 de novo (the last parents not available).

SNW1 is a core component of the spliceosome and facilitates the conformational changes of the spliceosome. Expression of variants in HEK293 cells showed some decreased SNW1 expression while others increased it (including the frameshift), and only the frameshift variant was mislocalised/in the cytoplasm instead of the nucleus. Several of the variants caused loss of binding to PPIL1 or other proteins which SNW1 usually recruits to the spliceosome. All variants in this study were found to either affect protein expression or localization or influence interactions with other proteins in the spliceosome complex suggesting loss of function.
Sources: Literature
Genetic Epilepsy v1.171 ATG2A Zornitza Stark Marked gene: ATG2A as ready
Genetic Epilepsy v1.171 ATG2A Zornitza Stark Gene: atg2a has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.171 ATG2A Zornitza Stark commented on gene: ATG2A: PMID:40631414 report a 3 yo F with homozygous ATG2A missense variant (c.1372G>C (p.Gly433Ala) with developmental regression, seizures, cerebellar ataxia, and MRI-brain abnormalities (diffuse cerebral and cerebellar atrophy). Provide supportive functional evidence.
Genetic Epilepsy v1.171 ATG2A Zornitza Stark gene: ATG2A was added
gene: ATG2A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ATG2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG2A were set to 40631414
Phenotypes for gene: ATG2A were set to complex neurodevelopmental disorder, ATG2A-related - MONDO:0100038
Review for gene: ATG2A was set to RED
Added comment: Sources: Literature
Genetic Epilepsy v1.170 BSN Zornitza Stark Phenotypes for gene: BSN were changed from Epilepsy MONDO:0005027 to Neurodevelopmental disorder (MONDO:0700092), BSN-related
Genetic Epilepsy v1.169 BSN Zornitza Stark edited their review of gene: BSN: Added comment: Guzman et al 2025: Described 12 additional patients with missense (3/12) and premature termination variants (9/12) which included de novo and inherited variants, suggesting incomplete penetrance.

They assessed all reported patients (n=29) which revealed common clinical characteristics including epilepsy(13/29), febrile seizures (7/29), generalised tonic-clonic seizures (5/29), and focal-onset seizures (3/29). Behavioural phenotypes were present in almost half of all individuals (14/29), which included ADHD (7/29) and autistic behaviour (5/29). Additional common features included developmental delay (11/29), obesity (10/29), and delayed speech (8/29). In adults with BSN PTVs, milder features were common, suggesting phenotypic variability, including a range of individuals without obvious neurodevelopmental features (7/29).; Changed rating: GREEN; Changed publications: 40393460; Changed phenotypes: Neurodevelopmental disorder (MONDO:0700092), BSN-related; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.169 MARK2 Zornitza Stark Phenotypes for gene: MARK2 were changed from Neurodevelopmental disorder MONDO:0700092 to Intellectual developmental disorder, autosomal dominant 76, MIM# 621285
Genetic Epilepsy v1.168 MARK2 Zornitza Stark reviewed gene: MARK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 76, MIM# 621285; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.168 LRPPRC chirag patel Classified gene: LRPPRC as Green List (high evidence)
Genetic Epilepsy v1.168 LRPPRC chirag patel Gene: lrpprc has been classified as Green List (High Evidence).
Genetic Epilepsy v1.167 LONP1 Zornitza Stark Marked gene: LONP1 as ready
Genetic Epilepsy v1.167 LONP1 Zornitza Stark Gene: lonp1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.167 LONP1 Zornitza Stark Classified gene: LONP1 as Green List (high evidence)
Genetic Epilepsy v1.167 LONP1 Zornitza Stark Gene: lonp1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.166 LONP1 Zornitza Stark gene: LONP1 was added
gene: LONP1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: LONP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LONP1 were set to 31636596; 36353900; 31923470
Phenotypes for gene: LONP1 were set to CODAS syndrome, MIM#600373; mitochondrial disease (MONDO:0044970), LONP1-related
Review for gene: LONP1 was set to GREEN
Added comment: Seizures rarely reported with bi-allelic disease.

New reports of autosomal dominant mitochondrial disease due to missense variants at p.Arg301.

- PMID: 36353900; Hartley 2023: 1x heterozygous de novo individual with p.(Arg301Gln), with dystonia, hearing loss, seizures.
p.(Arg301Gln) has been reported as de novo in a heterozygous individual with dystonia, delayed speech and language development (VCGS/MCRI internal case)

- PMID: 31923470; Besse 2020: 1x heterozygous de novo individual with p.(Arg301Trp) with seizures, encephalopathy, pachygyria and microcephaly.
- p.(Arg301Trp) has also been reported in a heterozygous individual with recurrent neonatal seizures, suspected mitochondrial disorder, elevated lactate, microcephaly, EEG showing significantly increased seizure susceptibility which was de novo but parentage not tested (ClinVar, personal communication).
- p.(Arg301Trp) has also been identified in a heterozygous individual with neonatal intractable epileptic encephalopathy and lactic acidosis. MRI changes in keeping with mitochondrial disorder, a combined Complex I and complex IV defect identified in muscle (but not liver) by RCE (VCGS/MCRI internal case)

- p.(Arg301Gly) has been reported de novo in a heterozygous individual with epileptic encephalopathy, microcephaly and dyskinesia (ClinVar, personal communication)

LONP1 functions as both a chaperone and an ATP-dependent protease. Functional evidence in Besse shows p.(Arg301Trp) results in loss of chaperone activity but retains proteolytic activity. Expression of WT LONP1 in patient fibroblast cells did not rescue dysfunction (measured via levels of MRPL44, RPL11, PDHE1a, TFAM, PINK1, complex 1 and complex IV) - indicating NOT LoF effect. Overexpression of LONP1 in control fibroblast cells leads to dysfunction (decrease in NDUFB8, COXIV, MRPL44 and TFAM), however, MRPL11, PDHE1a and PINK1 proteins were unchanged compared to controls. Variant p.R721G associated with AR disease showed decreased homo-oligomerisation whilst p.R301W showed increased WT-Mut and WT-WT oligomers. GoF was suggested but no dose-dependent studies so DN cannot be excluded.
Sources: Literature
Genetic Epilepsy v1.165 PIGU Zornitza Stark Classified gene: PIGU as Amber List (moderate evidence)
Genetic Epilepsy v1.165 PIGU Zornitza Stark Gene: pigu has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.164 PIGU Zornitza Stark edited their review of gene: PIGU: Added comment: Downgraded due to LIMITED assessment by ClinGen: only 2 variants across 5 families.; Changed rating: AMBER
Genetic Epilepsy v1.164 TMEM63B Zornitza Stark Phenotypes for gene: TMEM63B were changed from developmental and epileptic encephalopathy, MONDO:0100062, TMEM63B-related to Developmental and epileptic encephalopathy 118, MIM# 621250
Genetic Epilepsy v1.163 TMEM63B Zornitza Stark edited their review of gene: TMEM63B: Changed phenotypes: Developmental and epileptic encephalopathy 118, MIM# 621250
Genetic Epilepsy v1.163 LGI1 Krithika Murali Phenotypes for gene: LGI1 were changed from Epilepsy, familial temporal lobe, 1, MIM# 6000512 to Epilepsy, familial temporal lobe, 1, MIM# 6000512; Developmental and epileptic encephalopathy MONDO:0100062, LGI1-related
Genetic Epilepsy v1.162 LGI1 Krithika Murali Publications for gene: LGI1 were set to 18711109; 12205652; 15079010; 22496201; PMID:40455867
Genetic Epilepsy v1.161 LGI1 Krithika Murali Publications for gene: LGI1 were set to 18711109; 12205652; 15079010; 22496201
Genetic Epilepsy v1.161 LGI1 Krithika Murali Mode of inheritance for gene: LGI1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genetic Epilepsy v1.160 LGI1 Krithika Murali reviewed gene: LGI1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:40455867; Phenotypes: Developmental and epileptic encephalopathy MONDO:0100062, LGI1-related, Epilepsy, familial temporal lobe, 1, MIM# 6000512; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genetic Epilepsy v1.160 ELFN1 Krithika Murali Classified gene: ELFN1 as Green List (high evidence)
Genetic Epilepsy v1.160 ELFN1 Krithika Murali Gene: elfn1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.159 ELFN1 Krithika Murali Marked gene: ELFN1 as ready
Genetic Epilepsy v1.159 ELFN1 Krithika Murali Gene: elfn1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.159 ELFN1 Krithika Murali gene: ELFN1 was added
gene: ELFN1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ELFN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELFN1 were set to PMID:40576023
Phenotypes for gene: ELFN1 were set to Neurodevelopmental disorder, MONDO:0700092, ELFN1-related
Review for gene: ELFN1 was set to GREEN
Added comment: PMID: 40576023 report 8 individuals from 5 unrelated families and 6 previously reported patients from 2 families. Most patients had homozygous biallelic deletions / PTCs in ELFN1 (including one involving 5'UTR). One family had biallelic missense variants,

All patients had dev delay/ID. Other features included autism/ADHD/behavioural issues, hypotonia/muscle weakness, paediatric-onset ataxia/movement disorder and epilepsy.

Supportive functional modelling in mice and zebrafish. Some emerging evidence for haploinsufficiency.
Sources: Literature
Genetic Epilepsy v1.158 ADAM23 Zornitza Stark Marked gene: ADAM23 as ready
Genetic Epilepsy v1.158 ADAM23 Zornitza Stark Gene: adam23 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.158 ADAM23 Zornitza Stark Classified gene: ADAM23 as Amber List (moderate evidence)
Genetic Epilepsy v1.158 ADAM23 Zornitza Stark Gene: adam23 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.157 ADAM23 Sarah Milton gene: ADAM23 was added
gene: ADAM23 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ADAM23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAM23 were set to PMID: 40455867
Phenotypes for gene: ADAM23 were set to Neonatal-onset developmental and epileptic encephalopathy, MONDO:0100455, ADAM23-related
Review for gene: ADAM23 was set to AMBER
Added comment: ADAM23 encodes a transmembrane protein receptor which is a receptor for LGI1. LGI1/ADAM22/ADAM23 form a complex that regulates excitatory synaptic transmission and neuronal excitability in the brain.

1 affected individual described in PMID: 40455867 with severe neonatal seizures, joint contractures, absent reflexes. Noted to have a homozygous NMD predicted variant in ADAM23.
Also had a de novo missense variant in PRKD1.

Knockout ADAM23 mice show early lethal epilepsy.
Sources: Literature
Genetic Epilepsy v1.157 KCNA6 Zornitza Stark Marked gene: KCNA6 as ready
Genetic Epilepsy v1.157 KCNA6 Zornitza Stark Gene: kcna6 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.157 KCNA6 Zornitza Stark Classified gene: KCNA6 as Green List (high evidence)
Genetic Epilepsy v1.157 KCNA6 Zornitza Stark Gene: kcna6 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.156 KCNA6 Zornitza Stark gene: KCNA6 was added
gene: KCNA6 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KCNA6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNA6 were set to 36318112; 40472070
Phenotypes for gene: KCNA6 were set to Developmental and epileptic encephalopathy, MONDO:0100620, KCNA6-related
Review for gene: KCNA6 was set to GREEN
Added comment: PMID 36318112: four individuals with de novo variants in this gene and NDD/epilepsy phenotype. Supportive functional data. Additional individual in PMID 40472070 with de novo variant and epilepsy.
Sources: Literature
Genetic Epilepsy v1.155 WSB2 Krithika Murali Classified gene: WSB2 as Green List (high evidence)
Genetic Epilepsy v1.155 WSB2 Krithika Murali Gene: wsb2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.154 WSB2 Krithika Murali Marked gene: WSB2 as ready
Genetic Epilepsy v1.154 WSB2 Krithika Murali Gene: wsb2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.154 WSB2 Krithika Murali gene: WSB2 was added
gene: WSB2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: WSB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WSB2 were set to PMID: 40374945
Phenotypes for gene: WSB2 were set to Complex neurodevelopmental disorder, MONDO:0100038, WSB2-related
Review for gene: WSB2 was set to GREEN
Added comment: PMID: 40374945 describe 5 individuals from 4 unrelated families with biallelic WSB2 variants and a complex neurodevelopmental disorder. Phenotypic features include:
- Dev delay (all)
- Brain anomalies (4/5 including callosal anomalies and cerebellar hypoplasia)
- Dysmorphic feature
- IUGR/oligohydramnios (3/5)
- Hypotonia (all)
- Microcephaly (3/5)
- Seizures (3/5)

Includes two siblings with biallelic missense variants and shared phenotype. 3 unaffected siblings were heterozygous for the variant or hmz wt. Phenotypic features associated with hmz nonsense/fs variants were more severe than missense.

Supportive mouse model.
Sources: Literature
Genetic Epilepsy v1.153 TAF1C Zornitza Stark Classified gene: TAF1C as Amber List (moderate evidence)
Genetic Epilepsy v1.153 TAF1C Zornitza Stark Gene: taf1c has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.152 TAF1C Zornitza Stark Classified gene: TAF1C as Amber List (moderate evidence)
Genetic Epilepsy v1.152 TAF1C Zornitza Stark Gene: taf1c has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.151 TAF1C Sangavi Sivagnanasundram edited their review of gene: TAF1C: Changed phenotypes: complex neurodevelopmental disorder, TAF1C-related, MONDO:0100038
Genetic Epilepsy v1.151 TAF1C Sangavi Sivagnanasundram reviewed gene: TAF1C: Rating: AMBER; Mode of pathogenicity: None; Publications: 40371665; Phenotypes: complex neurodevelopmental disorder, TAF1C-realted, MONDO:0100038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.151 MYCBP2 Zornitza Stark Classified gene: MYCBP2 as Red List (low evidence)
Genetic Epilepsy v1.151 MYCBP2 Zornitza Stark Gene: mycbp2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.150 MYCBP2 Zornitza Stark edited their review of gene: MYCBP2: Added comment: Concerns about LoF variants in population datasets as well as in individuals undergoing diagnostic testing for a wide variety of unrelated phenotypes: downgrade to RED.; Changed rating: RED
Genetic Epilepsy v1.150 GTF3C3 Zornitza Stark Phenotypes for gene: GTF3C3 were changed from Neurodevelopmental disorder MONDO:0700092, GTF3C3-related to Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, MIM# 621201
Genetic Epilepsy v1.149 GTF3C3 Zornitza Stark edited their review of gene: GTF3C3: Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, MIM# 621201
Genetic Epilepsy v1.149 PLK1 Zornitza Stark Phenotypes for gene: PLK1 were changed from Epilepsy; microcephaly; intellectual disability to Neurodevelopmental disorder, PLK1-related, MONDO:0700092
Genetic Epilepsy v1.148 PLK1 Zornitza Stark edited their review of gene: PLK1: Changed phenotypes: Neurodevelopmental disorder, PLK1-related, MONDO:0700092
Genetic Epilepsy v1.148 RNU2-2P Sarah Milton changed review comment from: Note current HGNC accepted gene name RNU2-2
Previously referred to as RNU2-2P
Upstream of WDR74, as such variants may be incorrectly annotated as 5' WDR74
Encodes part of minor spliceosome (RNA) - non protein coding gene.

Total of 25 affected individuals with 16 described in PMID: 40210679 to have a neurodevelopmental disorder including intellectual disability (mod to severe), dysmorphism, global developmental delay, autistic behaviour, early onset drug resistant epilepsy, microcephaly, hyperventilation. Variants were de novo.

Recurrent variants included n.4G>A and n.35A>G
(should note another variant n.35A>T relatively common in population and said to be mosaic somatic by authors).; to: Note current HGNC accepted gene name RNU2-2
Previously referred to as RNU2-2P
Upstream of WDR74, as such variants may be incorrectly annotated as 5' WDR74
Encodes part of minor spliceosome (RNA) - non protein coding gene.

Total of 25 affected individuals with 16 described in PMID: 40210679 to have a neurodevelopmental disorder including intellectual disability (mod to severe), dysmorphism, global developmental delay, autistic behaviour, early onset drug resistant epilepsy, microcephaly, hyperventilation. Variants were de novo.

Recurrent variants included n.4G>A and n.35A>G
(both absent from gnomad v4, should note another variant n.35A>T relatively common in population and said to be mosaic somatic by authors).
Genetic Epilepsy v1.148 RNU2-2P Sarah Milton reviewed gene: RNU2-2P: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40210679; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, RNU2-2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.148 RNU2-2P Zornitza Stark Phenotypes for gene: RNU2-2P were changed from Neurodevelopmental disorder, MONDO:0700092, RNU2-2P-related to Neurodevelopmental disorder, MONDO:0700092, RNU2-2-related
Genetic Epilepsy v1.147 RNU2-2P Zornitza Stark Publications for gene: RNU2-2P were set to https://www.medrxiv.org/content/10.1101/2024.09.03.24312863v1
Genetic Epilepsy v1.146 RNU2-2P Zornitza Stark Tag new gene name tag was added to gene: RNU2-2P.
Genetic Epilepsy v1.146 UGGT1 Krithika Murali reviewed gene: UGGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:40267907; Phenotypes: Congenital disorder of glycosylation - MONDO:0015286, UGGT1-CDG; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.146 UGGT1 Krithika Murali Classified gene: UGGT1 as Green List (high evidence)
Genetic Epilepsy v1.146 UGGT1 Krithika Murali Gene: uggt1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.145 RAPGEF2_FAME7_TTTCA Bryony Thompson Marked STR: RAPGEF2_FAME7_TTTCA as ready
Genetic Epilepsy v1.145 RAPGEF2_FAME7_TTTCA Bryony Thompson Str: rapgef2_fame7_tttca has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.145 RAPGEF2_FAME7_TTTCA Bryony Thompson Classified STR: RAPGEF2_FAME7_TTTCA as Amber List (moderate evidence)
Genetic Epilepsy v1.145 RAPGEF2_FAME7_TTTCA Bryony Thompson Str: rapgef2_fame7_tttca has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.144 RAPGEF2_FAME7_TTTCA Bryony Thompson STR: RAPGEF2_FAME7_TTTCA was added
STR: RAPGEF2_FAME7_TTTCA was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for STR: RAPGEF2_FAME7_TTTCA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: RAPGEF2_FAME7_TTTCA were set to 29507423; 30351492; 33791773
Phenotypes for STR: RAPGEF2_FAME7_TTTCA were set to Epilepsy, familial adult myoclonic, 7 MIM#618075
Review for STR: RAPGEF2_FAME7_TTTCA was set to AMBER
Added comment: TTTCA expansion (without TTTTA expansion) identified in 3 affected individuals in a Chinese FAME family and another unrelated Japanese proband. Now 3 families reported.
The expanded (TTTTA)exp(TTTCA)exp(TTTTA)n allele was identified in a single case with myoclonic epilepsy. The repeat is similar to the SAMD12 FAME1 TTTTA/TTTCA pentanucleotide repeat.
Sources: Literature
Genetic Epilepsy v1.143 STARD7_FAME2_ATTTC Bryony Thompson FAME2 was changed to STARD7_FAME2_ATTTC
Genetic Epilepsy v1.142 SAMD12_FAME1_TTTCA Bryony Thompson Classified STR: SAMD12_FAME1_TTTCA as Green List (high evidence)
Genetic Epilepsy v1.142 SAMD12_FAME1_TTTCA Bryony Thompson Str: samd12_fame1_tttca has been classified as Green List (High Evidence).
Genetic Epilepsy v1.141 SAMD12_FAME1_TTTCA Bryony Thompson FAME1 was changed to SAMD12_FAME1_TTTCA
Genetic Epilepsy v1.140 MARCH6_FAME3_TTTCA Bryony Thompson Marked STR: MARCH6_FAME3_TTTCA as ready
Genetic Epilepsy v1.140 MARCH6_FAME3_TTTCA Bryony Thompson Str: march6_fame3_tttca has been classified as Green List (High Evidence).
Genetic Epilepsy v1.140 MARCH6_FAME3_TTTCA Bryony Thompson Classified STR: MARCH6_FAME3_TTTCA as Green List (high evidence)
Genetic Epilepsy v1.140 MARCH6_FAME3_TTTCA Bryony Thompson Str: march6_fame3_tttca has been classified as Green List (High Evidence).
Genetic Epilepsy v1.139 MARCH6_FAME3_TTTCA Bryony Thompson STR: MARCH6_FAME3_TTTCA was added
STR: MARCH6_FAME3_TTTCA was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for STR: MARCH6_FAME3_TTTCA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: MARCH6_FAME3_TTTCA were set to 31664039
Phenotypes for STR: MARCH6_FAME3_TTTCA were set to Epilepsy, familial adult myoclonic, 3 MIM#613608
Review for STR: MARCH6_FAME3_TTTCA was set to GREEN
STR: MARCH6_FAME3_TTTCA was marked as clinically relevant
STR: MARCH6_FAME3_TTTCA was marked as current diagnostic
Added comment: 4 unrelated European families with a heterozygous TTTCA(n) repeat expansion in intron 1 of the MARCHF6 gene. (TTTTA)n repeat is a polymorphic microsatellite with the number of TTTTA repeats ranging from 9 to 20; repeats containing TTTCA motifs were never observed in controls, indicating that the TTTCA repeats are the pathogenic part of the expansion similar to other FAMEs. Patient cells did not show any difference in MARCHF6 RNA or protein expression compared to controls, and there was no difference in the level of intron 1-containing RNA, thus excluding a massive accumulation of abnormally spliced mRNA carrying the expansion in these cells.
Sources: Literature
Genetic Epilepsy v1.138 GLS_GDPAG_GCA Bryony Thompson Marked STR: GLS_GDPAG_GCA as ready
Genetic Epilepsy v1.138 GLS_GDPAG_GCA Bryony Thompson Str: gls_gdpag_gca has been classified as Green List (High Evidence).
Genetic Epilepsy v1.138 GLS_GDPAG_GCA Bryony Thompson Classified STR: GLS_GDPAG_GCA as Green List (high evidence)
Genetic Epilepsy v1.138 GLS_GDPAG_GCA Bryony Thompson Str: gls_gdpag_gca has been classified as Green List (High Evidence).
Genetic Epilepsy v1.137 GLS_GDPAG_GCA Bryony Thompson STR: GLS_GDPAG_GCA was added
STR: GLS_GDPAG_GCA was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for STR: GLS_GDPAG_GCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: GLS_GDPAG_GCA were set to 30970188
Phenotypes for STR: GLS_GDPAG_GCA were set to Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412
Review for STR: GLS_GDPAG_GCA was set to GREEN
STR: GLS_GDPAG_GCA was marked as clinically relevant
STR: GLS_GDPAG_GCA was marked as current diagnostic
Added comment: NM_014905.5(GLS):c.-212_-210GCA[X]
3 unrelated cases with glutaminase deficiency were compound heterozygous (2) or homozygous for expansion of the repeat, 680-900 repeats in blood samples and 400-110 repeats in fibroblasts. In an analysis of 8295 genomes the median size of the repeat was 14 repeats (8-16 repeats range). There was 1 heterozygous allele with 90 repeats. Functional assays suggest the predominant effect of the repeats is at the level of histone modifications. Epigenetic gene silencing is the mechanism of disease of the repeat. Other variant types are also reported with disease.
Sources: Expert list
Genetic Epilepsy v1.136 CSTB_EPM1_CCCCGCCCCGCG Bryony Thompson Marked STR: CSTB_EPM1_CCCCGCCCCGCG as ready
Genetic Epilepsy v1.136 CSTB_EPM1_CCCCGCCCCGCG Bryony Thompson Str: cstb_epm1_ccccgccccgcg has been classified as Green List (High Evidence).
Genetic Epilepsy v1.136 CSTB_EPM1_CCCCGCCCCGCG Bryony Thompson Classified STR: CSTB_EPM1_CCCCGCCCCGCG as Green List (high evidence)
Genetic Epilepsy v1.136 CSTB_EPM1_CCCCGCCCCGCG Bryony Thompson Str: cstb_epm1_ccccgccccgcg has been classified as Green List (High Evidence).
Genetic Epilepsy v1.135 CSTB_EPM1_CCCCGCCCCGCG Bryony Thompson STR: CSTB_EPM1_CCCCGCCCCGCG was added
STR: CSTB_EPM1_CCCCGCCCCGCG was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for STR: CSTB_EPM1_CCCCGCCCCGCG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: CSTB_EPM1_CCCCGCCCCGCG were set to 29325606; 20301321; 9126745
Phenotypes for STR: CSTB_EPM1_CCCCGCCCCGCG were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM#254800
Review for STR: CSTB_EPM1_CCCCGCCCCGCG was set to GREEN
STR: CSTB_EPM1_CCCCGCCCCGCG was marked as clinically relevant
STR: CSTB_EPM1_CCCCGCCCCGCG was marked as current diagnostic
Added comment: NM_000100​.4:c.-179CCCCGCCCCGCG[X]
Loss of function, other disease-associated variants can cause loss of function too. Ataxia age of onset usually occurs a couple of years after PME.
Normal: 2-3 dodecamer repeats
Uncertain significance: 12-17 dodecamer repeats (unstable, but not clinically characterized)
Pathogenic (full penetrance): ≥30 dodecamer repeats
Sources: Expert list
Genetic Epilepsy v1.134 ATN1_DRPLA_CAG Bryony Thompson Marked STR: ATN1_DRPLA_CAG as ready
Genetic Epilepsy v1.134 ATN1_DRPLA_CAG Bryony Thompson Str: atn1_drpla_cag has been classified as Green List (High Evidence).
Genetic Epilepsy v1.134 ATN1_DRPLA_CAG Bryony Thompson Classified STR: ATN1_DRPLA_CAG as Green List (high evidence)
Genetic Epilepsy v1.134 ATN1_DRPLA_CAG Bryony Thompson Str: atn1_drpla_cag has been classified as Green List (High Evidence).
Genetic Epilepsy v1.133 ATN1_DRPLA_CAG Bryony Thompson STR: ATN1_DRPLA_CAG was added
STR: ATN1_DRPLA_CAG was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for STR: ATN1_DRPLA_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ATN1_DRPLA_CAG were set to 8136840; 8136826; 29325606; 20301664
Phenotypes for STR: ATN1_DRPLA_CAG were set to Dentatorubral-pallidoluysian atrophy MIM#125370
Review for STR: ATN1_DRPLA_CAG was set to GREEN
STR: ATN1_DRPLA_CAG was marked as clinically relevant
STR: ATN1_DRPLA_CAG was marked as current diagnostic
Added comment: NM_001007026​.1:c.1462_1464CAG[X]
Toxic gain of function mechanism of disease
Benign: ≤35 repeats
Mutable normal: 20-35 repeats
Pathogenic: ≥48 repeats
Age <20 years: ≥63 repeats - ataxia, myoclonus, seizures, progressive intellectual deterioration Age 21-40 years 61-69 repeats, >40 years 48-67 repeats: ataxia, choreoathetosis, dementia, psychiatric disturbance
Sources: Expert list
Genetic Epilepsy v1.132 ARX_EIEE1_GCN2 Bryony Thompson Marked STR: ARX_EIEE1_GCN2 as ready
Genetic Epilepsy v1.132 ARX_EIEE1_GCN2 Bryony Thompson Str: arx_eiee1_gcn2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.132 ARX_EIEE1_GCN2 Bryony Thompson Classified STR: ARX_EIEE1_GCN2 as Green List (high evidence)
Genetic Epilepsy v1.132 ARX_EIEE1_GCN2 Bryony Thompson Str: arx_eiee1_gcn2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.131 ARX_EIEE1_GCN2 Bryony Thompson STR: ARX_EIEE1_GCN2 was added
STR: ARX_EIEE1_GCN2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for STR: ARX_EIEE1_GCN2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for STR: ARX_EIEE1_GCN2 were set to 11889467; 33811808
Phenotypes for STR: ARX_EIEE1_GCN2 were set to Developmental and epileptic encephalopathy 1 MIM#308350; Intellectual disability, X-linked 29 and others MIM#300419; Partington syndrome MIM#309510
Review for STR: ARX_EIEE1_GCN2 was set to GREEN
STR: ARX_EIEE1_GCN2 was marked as clinically relevant
STR: ARX_EIEE1_GCN2 was marked as current diagnostic
Added comment: NM_139058.3(ARX):c.429GGC[X]
Mechanism of disease is polyAlanine tract associated with dominant-negative effect
PolyAla tract 2 of 2 polyAla tracts associated with disease
Normal repeat number: 12
Pathogenic repeat number: 20
Sources: Expert list
Genetic Epilepsy v1.130 ARX_EIEE1_GCN1 Bryony Thompson Classified STR: ARX_EIEE1_GCN1 as Green List (high evidence)
Genetic Epilepsy v1.130 ARX_EIEE1_GCN1 Bryony Thompson Str: arx_eiee1_gcn1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.129 ARX_EIEE1_GCN1 Bryony Thompson Classified STR: ARX_EIEE1_GCN1 as Green List (high evidence)
Genetic Epilepsy v1.129 ARX_EIEE1_GCN1 Bryony Thompson Str: arx_eiee1_gcn1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.128 ARX_EIEE1_GCN1 Bryony Thompson Marked STR: ARX_EIEE1_GCN1 as ready
Genetic Epilepsy v1.128 ARX_EIEE1_GCN1 Bryony Thompson Str: arx_eiee1_gcn1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.128 ARX_EIEE1_GCN1 Bryony Thompson STR: ARX_EIEE1_GCN1 was added
STR: ARX_EIEE1_GCN1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for STR: ARX_EIEE1_GCN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for STR: ARX_EIEE1_GCN1 were set to 11889467; 33811808
Phenotypes for STR: ARX_EIEE1_GCN1 were set to Developmental and epileptic encephalopathy 1 MIM#308350; Intellectual disability, X-linked 29 and others MIM#300419; Partington syndrome MIM#309510
Review for STR: ARX_EIEE1_GCN1 was set to GREEN
STR: ARX_EIEE1_GCN1 was marked as clinically relevant
STR: ARX_EIEE1_GCN1 was marked as current diagnostic
Added comment: NM_139058.3(ARX):c.306GGC[X]
Mechanism of disease is polyAlanine tract associated with dominant-negative effect
PolyAla tract 1 of 2 polyAla tracts associated with disease
Normal repeat number: 16
Pathogenic repeat number: 23
Sources: Expert list
Genetic Epilepsy v1.127 USP25 Zornitza Stark Classified gene: USP25 as Amber List (moderate evidence)
Genetic Epilepsy v1.127 USP25 Zornitza Stark Gene: usp25 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.126 USP25 Sangavi Sivagnanasundram reviewed gene: USP25: Rating: AMBER; Mode of pathogenicity: Other; Publications: 38875478; Phenotypes: USP25-related epilepsy (epilepsy MONDO:0005027); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.126 SPOUT1 Zornitza Stark Phenotypes for gene: SPOUT1 were changed from complex neurodevelopmental disorder MONDO:0100038, SPOUT1-related to Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, MIM# 621154
Genetic Epilepsy v1.125 SPOUT1 Zornitza Stark reviewed gene: SPOUT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, MIM# 621154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.125 ATP11A Bryony Thompson Marked gene: ATP11A as ready
Genetic Epilepsy v1.125 ATP11A Bryony Thompson Gene: atp11a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.125 ATP11A Bryony Thompson Classified gene: ATP11A as Amber List (moderate evidence)
Genetic Epilepsy v1.125 ATP11A Bryony Thompson Gene: atp11a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.124 ATP11A Sangavi Sivagnanasundram gene: ATP11A was added
gene: ATP11A was added to Genetic Epilepsy. Sources: Other
Mode of inheritance for gene: ATP11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP11A were set to 40185629
Phenotypes for gene: ATP11A were set to Focal Epilepsy MONDO:0005384
Review for gene: ATP11A was set to AMBER
Added comment: PMID: 40185629 - Two chinese individuals reported with refractory focal epilepsy

De novo missense variants were identified in the two unrelated probands of chinese descent
Case 1 - female patient experiencing epileptic seizures from the age of 4 - Lys812Ile
Case 2 - male patient experienceing epileptic seizures from the age of 7 - Trp1036Cys
Sources: Other
Genetic Epilepsy v1.124 CELF4 Zornitza Stark Marked gene: CELF4 as ready
Genetic Epilepsy v1.124 CELF4 Zornitza Stark Gene: celf4 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.124 CELF4 Zornitza Stark Classified gene: CELF4 as Green List (high evidence)
Genetic Epilepsy v1.124 CELF4 Zornitza Stark Gene: celf4 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.123 CELF4 Zornitza Stark gene: CELF4 was added
gene: CELF4 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CELF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CELF4 were set to 40108438
Phenotypes for gene: CELF4 were set to Neurodevelopmental disorder, MONDO:0700092, CELF4-related
Review for gene: CELF4 was set to GREEN
Added comment: 15 individuals with de novo missense variants clustering in the N-terminal reported, LoF is the likely mechanism. Most individuals presented with neurodevelopmental disorders including global developmental delay/intellectual disability (11/14), seizures (9/15) and overweight/obesity (10/14). Clinical features are similar to the reported celf4-mouse mutant phenotype.
Sources: Literature
Genetic Epilepsy v1.122 CSNK1A1 Zornitza Stark Marked gene: CSNK1A1 as ready
Genetic Epilepsy v1.122 CSNK1A1 Zornitza Stark Gene: csnk1a1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.122 CSNK1A1 Zornitza Stark Classified gene: CSNK1A1 as Amber List (moderate evidence)
Genetic Epilepsy v1.122 CSNK1A1 Zornitza Stark Gene: csnk1a1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.121 CSNK1A1 Zornitza Stark gene: CSNK1A1 was added
gene: CSNK1A1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CSNK1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CSNK1A1 were set to 40156289
Phenotypes for gene: CSNK1A1 were set to Infantile spasms, MONDO:0018097, CSNK1A1-related
Review for gene: CSNK1A1 was set to AMBER
Added comment: Two individuals with de novo variants and some supportive functional data.
Sources: Literature
Genetic Epilepsy v1.120 KMT2C Zornitza Stark Phenotypes for gene: KMT2C were changed from Kleefstra syndrome 2, MIM# 617768 to Kleefstra syndrome 2, MIM# 617768; Neurodevelopmental disorder, MONDO:0700092, KMT2C-related
Genetic Epilepsy v1.119 KMT2C Zornitza Stark edited their review of gene: KMT2C: Added comment: Features not typical of Kleefstra syndrome and suggestion to rename condition to a broader NDD.; Changed phenotypes: Kleefstra syndrome 2, MIM# 617768, Neurodevelopmental disorder, MONDO:0700092, KMT2C-related
Genetic Epilepsy v1.119 RNU2-2P Zornitza Stark Tag non-coding gene tag was added to gene: RNU2-2P.
Genetic Epilepsy v1.119 SNORD118 Zornitza Stark Tag non-coding gene tag was added to gene: SNORD118.
Genetic Epilepsy v1.119 RNU4ATAC Zornitza Stark Tag non-coding gene tag was added to gene: RNU4ATAC.
Genetic Epilepsy v1.119 DROSHA Zornitza Stark Tag non-coding gene tag was added to gene: DROSHA.
Genetic Epilepsy v1.119 PPFIA3 Zornitza Stark Phenotypes for gene: PPFIA3 were changed from Neurodevelopmental disorder, MONDO:0700092, PPFIA3-related to Paul-Chao neurodevelopmental syndrome, MIM# 621122
Genetic Epilepsy v1.118 PPFIA3 Zornitza Stark edited their review of gene: PPFIA3: Changed phenotypes: Paul-Chao neurodevelopmental syndrome, MIM# 621122
Genetic Epilepsy v1.118 PIGW Zornitza Stark Classified gene: PIGW as Amber List (moderate evidence)
Genetic Epilepsy v1.118 PIGW Zornitza Stark Gene: pigw has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.117 PIGW Zornitza Stark edited their review of gene: PIGW: Added comment: Downgraded to AMBER, assessed as LIMITED by ClinGen.; Changed rating: AMBER
Genetic Epilepsy v1.117 DDX39B Zornitza Stark Marked gene: DDX39B as ready
Genetic Epilepsy v1.117 DDX39B Zornitza Stark Gene: ddx39b has been classified as Green List (High Evidence).
Genetic Epilepsy v1.117 DDX39B Zornitza Stark Classified gene: DDX39B as Green List (high evidence)
Genetic Epilepsy v1.117 DDX39B Zornitza Stark Gene: ddx39b has been classified as Green List (High Evidence).
Genetic Epilepsy v1.116 SPOUT1 Bryony Thompson Marked gene: SPOUT1 as ready
Genetic Epilepsy v1.116 SPOUT1 Bryony Thompson Gene: spout1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.116 SPOUT1 Bryony Thompson Classified gene: SPOUT1 as Green List (high evidence)
Genetic Epilepsy v1.116 SPOUT1 Bryony Thompson Gene: spout1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.115 SPOUT1 Bryony Thompson Classified gene: SPOUT1 as Green List (high evidence)
Genetic Epilepsy v1.115 SPOUT1 Bryony Thompson Gene: spout1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.115 SPOUT1 Bryony Thompson Classified gene: SPOUT1 as Green List (high evidence)
Genetic Epilepsy v1.115 SPOUT1 Bryony Thompson Gene: spout1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.114 SPOUT1 Bryony Thompson gene: SPOUT1 was added
gene: SPOUT1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SPOUT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPOUT1 were set to 39962046
Phenotypes for gene: SPOUT1 were set to complex neurodevelopmental disorder MONDO:0100038, SPOUT1-related
Review for gene: SPOUT1 was set to GREEN
Added comment: Biallelic SPOUT1 variants were identified in 28 individuals with a complex neurodevelopmental disorder from 21 unrelated families. Common phenotypes include microcephaly (18/21), seizures (20/28), intellectual disability (14/14), and varying degrees of developmental delays (28/28). Also, supporting zebrafish model. The suggested name of the disorder is SpADMiSS (SPOUT1 Associated Development delay Microcephaly Seizures Short stature).
Sources: Literature
Genetic Epilepsy v1.113 DDX39B Sangavi Sivagnanasundram gene: DDX39B was added
gene: DDX39B was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: DDX39B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DDX39B were set to 39918047
Phenotypes for gene: DDX39B were set to neurodevelopmental disorder MONDO:0700092, DDX39B-related
Review for gene: DDX39B was set to GREEN
Added comment: Established gene-disease association - epilepsy is a prominent feature in affected individuals.

6 individuals from 5 families with variable neurological and developmental phenotypes including hypotonia, DD, ID and epilepsy.
4 de novo missense variants and 1 inherited splice variant were identified. All variants are absent from gnomAD v4.1.
In vivo functional assay using Drosophila transgenic flies was supportive of a loss of function phenotype.
Sources: Literature
Genetic Epilepsy v1.113 RBFOX3 Zornitza Stark Publications for gene: RBFOX3 were set to 35951651; 36117209; 24039908
Genetic Epilepsy v1.112 RBFOX3 Zornitza Stark edited their review of gene: RBFOX3: Added comment: Two additional families identified in the GeL 100K dataset: two sibs with missense variant and one additional proband with LoF variant. However, no segregation performed.; Changed publications: 35951651, 36117209, 24039908, 40011789
Genetic Epilepsy v1.112 C12orf66 Zornitza Stark Phenotypes for gene: C12orf66 were changed from Neurodevelopmental disorder MONDO:0700092 to Intellectual developmental disorder, autosomal recessive 83, MIM# 621100
Genetic Epilepsy v1.111 C12orf66 Zornitza Stark edited their review of gene: C12orf66: Changed rating: GREEN; Changed phenotypes: Intellectual developmental disorder, autosomal recessive 83, MIM# 621100; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.111 RYR3 Zornitza Stark Phenotypes for gene: RYR3 were changed from undetermined early-onset epileptic encephalopathy (MONDO:0018614) to Developmental and epileptic encephalopathy MONDO:0100062, RYR3-related
Genetic Epilepsy v1.110 RYR3 Zornitza Stark Classified gene: RYR3 as Red List (low evidence)
Genetic Epilepsy v1.110 RYR3 Zornitza Stark Gene: ryr3 has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.109 RYR3 Zornitza Stark edited their review of gene: RYR3: Added comment: LIMITED by ClinGEN for epilepsy.; Changed rating: RED; Changed phenotypes: Developmental and epileptic encephalopathy MONDO:0100062, RYR3-related
Genetic Epilepsy v1.109 EEFSEC Zornitza Stark Phenotypes for gene: EEFSEC were changed from Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related to Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM#621102
Genetic Epilepsy v1.108 HECTD1 Zornitza Stark Marked gene: HECTD1 as ready
Genetic Epilepsy v1.108 HECTD1 Zornitza Stark Gene: hectd1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.108 C12orf66 Zornitza Stark Marked gene: C12orf66 as ready
Genetic Epilepsy v1.108 C12orf66 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name is KICS2
Genetic Epilepsy v1.108 C12orf66 Zornitza Stark Gene: c12orf66 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.108 C12orf66 Zornitza Stark Tag new gene name tag was added to gene: C12orf66.
Genetic Epilepsy v1.108 C12orf66 chirag patel Classified gene: C12orf66 as Green List (high evidence)
Genetic Epilepsy v1.108 C12orf66 chirag patel Gene: c12orf66 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.108 C12orf66 chirag patel Classified gene: C12orf66 as Green List (high evidence)
Genetic Epilepsy v1.108 C12orf66 chirag patel Gene: c12orf66 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.107 C12orf66 chirag patel gene: C12orf66 was added
gene: C12orf66 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: C12orf66 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C12orf66 were set to PMID: 39824192
Phenotypes for gene: C12orf66 were set to Neurodevelopmental disorder MONDO:0700092
Review for gene: C12orf66 was set to GREEN
Added comment: 11 individuals from 8 families with mild to moderate intellectual disability (11/11), epilepsy (8/11), hearing impairment (3/11), macrocephaly (2/11), facial dysmorphism (6/6).

WES/WGS identified biallelic variants (missense, nonsense, and large deletion) in KICS2 gene (aka C12ORF66). The KICS2 protein is part of the KICSTOR complex which recruits GATOR1 to lysosomes and inhibits mTORC1 activity. Overactivation of the mTORC1 pathway is a recognized cause of several neurodevelopmental disorders.

The variants in the individuals partly affected KICS2 stability, compromised KICSTOR complex formation, and demonstrated a deleterious impact on nutrient-dependent mTORC1 regulation of 4EBP1 and S6K. Phosphoproteome analyses extended these findings to show that KICS2 variants changed the mTORC1 proteome, affecting proteins that function in translation, splicing, and ciliogenesis. Depletion of Kics2 in zebrafish resulted in ciliary dysfunction consistent with a role of mTORC1 in cilia biology.
Sources: Literature
Genetic Epilepsy v1.106 HECTD1 chirag patel Classified gene: HECTD1 as Green List (high evidence)
Genetic Epilepsy v1.106 HECTD1 chirag patel Gene: hectd1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.105 HECTD1 chirag patel Classified gene: HECTD1 as Green List (high evidence)
Genetic Epilepsy v1.105 HECTD1 chirag patel Gene: hectd1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.105 HECTD1 chirag patel Classified gene: HECTD1 as Green List (high evidence)
Genetic Epilepsy v1.105 HECTD1 chirag patel Gene: hectd1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.104 HECTD1 chirag patel gene: HECTD1 was added
gene: HECTD1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: HECTD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HECTD1 were set to PMID: 39879987
Phenotypes for gene: HECTD1 were set to Neurodevelopmental disorder MONDO:0700092
Review for gene: HECTD1 was set to GREEN
Added comment: 14 unrelated individuals (identified through GeneMatcher) with 15 variants of uncertain significance (VUS) in HECTD1 (10 missense, 3 frameshift, 1 nonsense, and 1 splicing variant). Of the 15 different variants in HECTD1, 10 occurred de novo, 3 had unknown inheritance, and 2 were compound heterozygous. All variants were absent in gnomAD, and HECTD1 is highly intolerant to loss-of-function variation (loss-of-function-intolerant score of 1). Clinical presentation was variable developmental delay, intellectual disability, autism spectrum disorder, ADHD, and epilepsy.

The one individual with compound heterozygous variants had growth impairment along with NDD. The variants were inherited from apparently healthy parents, suggesting that genetic or environmental modifiers may be required to develop the phenotype.

Significant enrichment of de novo variants in HECTD1 was also shown in an independent cohort of 53,305 published trios with NDDs or congenital heart disease.

HECT-domain-containing protein 1 (HECTD1) mediates developmental pathways, including cell signalling, gene expression, and embryogenesis. Conditional knockout of Hectd1 in the neural lineage in mice resulted in microcephaly, severe hippocampal malformations, and complete agenesis of the corpus callosum, supporting a role for Hectd1 in embryonic brain development. Functional studies of 2 missense variants and 1 nonsense variant in C. elegans revealed dominant effects, including either change-of-function or loss-of-function/haploinsufficient mechanisms.
Sources: Literature
Genetic Epilepsy v1.103 USP25 Zornitza Stark Phenotypes for gene: USP25 were changed from Epilepsy, idiopathic generalized, MONDO:0005579, USP25-related to {Epilepsy, idiopathic generalized, susceptibility to, 19} MIM#621064
Genetic Epilepsy v1.102 USP25 Zornitza Stark edited their review of gene: USP25: Changed phenotypes: {Epilepsy, idiopathic generalized, susceptibility to, 19} MIM#621064
Genetic Epilepsy v1.102 GTF3C3 Zornitza Stark Classified gene: GTF3C3 as Green List (high evidence)
Genetic Epilepsy v1.102 GTF3C3 Zornitza Stark Gene: gtf3c3 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.102 GTF3C3 Zornitza Stark Classified gene: GTF3C3 as Green List (high evidence)
Genetic Epilepsy v1.102 GTF3C3 Zornitza Stark Gene: gtf3c3 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.101 GTF3C3 Zornitza Stark Marked gene: GTF3C3 as ready
Genetic Epilepsy v1.101 GTF3C3 Zornitza Stark Gene: gtf3c3 has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.101 GTF3C3 Zornitza Stark reviewed gene: GTF3C3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder MONDO:0700092, GTF3C3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.101 TRPM7 Zornitza Stark Marked gene: TRPM7 as ready
Genetic Epilepsy v1.101 TRPM7 Zornitza Stark Gene: trpm7 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.101 TRPM7 Zornitza Stark Classified gene: TRPM7 as Green List (high evidence)
Genetic Epilepsy v1.101 TRPM7 Zornitza Stark Gene: trpm7 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.100 TRPM7 Zornitza Stark Classified gene: TRPM7 as Green List (high evidence)
Genetic Epilepsy v1.100 TRPM7 Zornitza Stark Gene: trpm7 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.99 TRPM7 Zornitza Stark gene: TRPM7 was added
gene: TRPM7 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TRPM7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPM7 were set to 35561741; 35712613; 39099563; 37188671
Phenotypes for gene: TRPM7 were set to Familial primary hypomagnesaemia, MONDO:0018100, TRPM7-related
Review for gene: TRPM7 was set to GREEN
Added comment: Protein expressed in the distal tubule, related to TRPM6. Postulated link with hypoMg with secondary hypoCa.
PMID 35561741: two families reported with dominant inheritance. F1: three affected individuals with splicing variant; some supportive functional data. F2: single affected individual, de novo missense variant.
PMID 35712613: de novo missense variant in an individual with hypoMg.
PMID 39099563: three affected individuals with missense variants, all de novo. Probands had DD, two had seizures.
PMID 37188671: mouse model investigating role in HypoMg and seizure-related death.
Sources: Literature
Genetic Epilepsy v1.97 GTF3C3 chirag patel gene: GTF3C3 was added
gene: GTF3C3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GTF3C3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF3C3 were set to PMID: 39636576
Phenotypes for gene: GTF3C3 were set to Neurodevelopmental disorder MONDO:0700092, GTF3C3-related
Review for gene: GTF3C3 was set to GREEN
Added comment: 12 affected individuals from 7 unrelated families with homozygous or compound heterozygous missense variants in GTF3C3. Presentation with intellectual disability, variable nonfamilial facial features, motor impairments, seizures, and cerebellar/corpus callosum malformations.
Sources: Literature
Genetic Epilepsy v1.97 GTF3C3 chirag patel gene: GTF3C3 was added
gene: GTF3C3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GTF3C3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF3C3 were set to PMID: 39636576
Phenotypes for gene: GTF3C3 were set to Neurodevelopmental disorder MONDO:0700092, GTF3C3-related
Review for gene: GTF3C3 was set to GREEN
Added comment: 12 affected individuals from 7 unrelated families with homozygous or compound heterozygous missense variants in GTF3C3. Presentation with intellectual disability, variable nonfamilial facial features, motor impairments, seizures, and cerebellar/corpus callosum malformations.
Sources: Literature
Genetic Epilepsy v1.97 GTF3C3 chirag patel gene: GTF3C3 was added
gene: GTF3C3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GTF3C3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF3C3 were set to PMID: 39636576
Phenotypes for gene: GTF3C3 were set to Neurodevelopmental disorder MONDO:0700092, GTF3C3-related
Added comment: 12 affected individuals from 7 unrelated families with homozygous or compound heterozygous missense variants in GTF3C3. Presentation with intellectual disability, variable nonfamilial facial features, motor impairments, seizures, and cerebellar/corpus callosum malformations.
Sources: Literature
Genetic Epilepsy v1.96 INPP4A chirag patel Classified gene: INPP4A as Green List (high evidence)
Genetic Epilepsy v1.96 INPP4A chirag patel Gene: inpp4a has been classified as Green List (High Evidence).
Genetic Epilepsy v1.96 INPP4A chirag patel Classified gene: INPP4A as Green List (high evidence)
Genetic Epilepsy v1.96 INPP4A chirag patel Gene: inpp4a has been classified as Green List (High Evidence).
Genetic Epilepsy v1.96 INPP4A chirag patel Classified gene: INPP4A as Green List (high evidence)
Genetic Epilepsy v1.96 INPP4A chirag patel Gene: inpp4a has been classified as Green List (High Evidence).
Genetic Epilepsy v1.96 INPP4A chirag patel Classified gene: INPP4A as Green List (high evidence)
Genetic Epilepsy v1.96 INPP4A chirag patel Gene: inpp4a has been classified as Green List (High Evidence).
Genetic Epilepsy v1.95 INPP4A chirag patel gene: INPP4A was added
gene: INPP4A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: INPP4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INPP4A were set to PMID: 39315527
Phenotypes for gene: INPP4A were set to INPP4A-related neurodevelopmental disorder
Review for gene: INPP4A was set to GREEN
Added comment: PMID: 39315527
30 individuals (aged 6 months to 40 years) from 17 unrelated families with biallelic LOF variants in INPP4A gene (11 nonsense or frameshift and 3 missense, mostly exon 4).

Cardinal clinical features include: severe global developmental delay, profound speech impairment, severe-profound intellectual disability, and severe lower limb weakness/paralysis. More variable clinical features include: microcephaly, short stature, cerebellar signs, involuntary movements, axial hypotonia, spasticity, quadriparesis, joint contractures, seizures, visual impairment. Neuroimaging findings vary from normal to features of (ponto)cerebellar hypoplasia, ventriculomegaly, reduced cerebral volume and hypomyelination. A more severe presentation is seen with variants downstream of exon 4.

Preliminary fibroblast cell studies identify disruption of endocytic pathways as the likely mechanism of disease, consistent with previous findings of a role of INPP4A in endocytosis. All mouse models display a phenotype mirroring human INPP4A-related neurodevelopmental disorder entailing a severe movement disorder with inability to walk, a small brain, and poor growth/weight gain.
Sources: Literature
Genetic Epilepsy v1.94 EEFSEC Zornitza Stark Marked gene: EEFSEC as ready
Genetic Epilepsy v1.94 EEFSEC Zornitza Stark Gene: eefsec has been classified as Green List (High Evidence).
Genetic Epilepsy v1.94 EEFSEC Zornitza Stark Classified gene: EEFSEC as Green List (high evidence)
Genetic Epilepsy v1.94 EEFSEC Zornitza Stark Gene: eefsec has been classified as Green List (High Evidence).
Genetic Epilepsy v1.93 EEFSEC Zornitza Stark gene: EEFSEC was added
gene: EEFSEC was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: EEFSEC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EEFSEC were set to 39753114
Phenotypes for gene: EEFSEC were set to Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related
Review for gene: EEFSEC was set to GREEN
Added comment: Nine individuals from 8 unrelated families reported with bi-allelic variants in this gene and progressive neurodevelopmental disorder manifesting with global developmental delay, progressive spasticity, ataxia, and seizures. Cerebral MRI primarily demonstrated a cerebellar pathology, including hypoplasia and progressive atrophy. In line with the clinical phenotype, an eEFSec-RNAi Drosophila model displays progressive impairment of motor function, which is reflected in the synaptic defects in this model organisms.
Sources: Literature
Genetic Epilepsy v1.92 CCT3 Zornitza Stark Phenotypes for gene: CCT3 were changed from neurodevelopmental disorder MONDO:0700092, CCT3-related to Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MIM# 621034
Genetic Epilepsy v1.91 CCT3 Zornitza Stark reviewed gene: CCT3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MIM# 621034; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.91 TCP1 Zornitza Stark Phenotypes for gene: TCP1 were changed from neurodevelopmental disorder MONDO:0700092, TCP1-related to Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021
Genetic Epilepsy v1.90 TCP1 Zornitza Stark reviewed gene: TCP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.90 EP400 Bryony Thompson Marked gene: EP400 as ready
Genetic Epilepsy v1.90 EP400 Bryony Thompson Gene: ep400 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.90 EP400 Bryony Thompson Classified gene: EP400 as Green List (high evidence)
Genetic Epilepsy v1.90 EP400 Bryony Thompson Gene: ep400 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.89 EP400 Sangavi Sivagnanasundram gene: EP400 was added
gene: EP400 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: EP400 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EP400 were set to 39708813
Phenotypes for gene: EP400 were set to neurodevelopmental disorder with or without early-onset generalized epilepsy - MONDO:0030930
Review for gene: EP400 was set to GREEN
Added comment: 6 unrelated probands presenting with epilepsy with NDD had compound heterozygous variants in EP400. They were confirmed in trans and inherited from their asymptomatic parents.

Knockdown of EP400 ortholog in Drosophila showed an increase in seizure-like susceptibility and abnormal neurological behaviour.
Sources: Literature
Genetic Epilepsy v1.89 UBR5 Bryony Thompson Marked gene: UBR5 as ready
Genetic Epilepsy v1.89 UBR5 Bryony Thompson Gene: ubr5 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.89 UBR5 Bryony Thompson Classified gene: UBR5 as Green List (high evidence)
Genetic Epilepsy v1.89 UBR5 Bryony Thompson Gene: ubr5 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.88 UBR5 Bryony Thompson gene: UBR5 was added
gene: UBR5 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: UBR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBR5 were set to 39721588
Phenotypes for gene: UBR5 were set to Neurodevelopmental disorder MONDO:0700092, UBR5-related
Review for gene: UBR5 was set to GREEN
Added comment: 29 individuals with a neurodevelopment syndrome (24 de novo variants) with a core phenotype characterised by developmental delay (26/28), autism (16/26), and intellectual disability (56%). Additionally, some individuals presented with epilepsy/seizures (11/27), movement disorders, and/or genital anomalies (35%). Loss of function is the expected mechanism of disease with functional experiments in C. elegans and in vitro ubiquitination assays.
Sources: Literature
Genetic Epilepsy v1.87 PIGG Ain Roesley Phenotypes for gene: PIGG were changed from Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy MIM#616917 to Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy MIM#616917
Genetic Epilepsy v1.86 PIGG Ain Roesley Phenotypes for gene: PIGG were changed from Mental retardation, autosomal recessive 53, MIM#616917 to Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy MIM#616917
Genetic Epilepsy v1.85 USP25 Zornitza Stark Marked gene: USP25 as ready
Genetic Epilepsy v1.85 USP25 Zornitza Stark Gene: usp25 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.85 CCT6A Ain Roesley Classified gene: CCT6A as Amber List (moderate evidence)
Genetic Epilepsy v1.85 CCT6A Ain Roesley Gene: cct6a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.84 CCT6A Ain Roesley Classified gene: CCT6A as Amber List (moderate evidence)
Genetic Epilepsy v1.84 CCT6A Ain Roesley Gene: cct6a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.83 CCT6A Ain Roesley Marked gene: CCT6A as ready
Genetic Epilepsy v1.83 CCT6A Ain Roesley Gene: cct6a has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.83 CCT6A Ain Roesley gene: CCT6A was added
gene: CCT6A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CCT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCT6A were set to 39480921
Phenotypes for gene: CCT6A were set to neurodevelopmental disorder MONDO:0700092, CCT6A-related
Penetrance for gene: CCT6A were set to Complete
Review for gene: CCT6A was set to AMBER
gene: CCT6A was marked as current diagnostic
Added comment: previously known as CCT6

5x individuals including 4x de novo
3x PTCS + 1x +5C>G + 1x missense

4/5 DD/ID
2/5 visual impairment
2/5 seizures
Sources: Literature
Genetic Epilepsy v1.82 TCP1 Ain Roesley Marked gene: TCP1 as ready
Genetic Epilepsy v1.82 TCP1 Ain Roesley Gene: tcp1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.82 TCP1 Ain Roesley Classified gene: TCP1 as Green List (high evidence)
Genetic Epilepsy v1.82 TCP1 Ain Roesley Gene: tcp1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.81 TCP1 Ain Roesley gene: TCP1 was added
gene: TCP1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TCP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TCP1 were set to 39480921
Phenotypes for gene: TCP1 were set to neurodevelopmental disorder MONDO:0700092, TCP1-related
Penetrance for gene: TCP1 were set to Complete
Review for gene: TCP1 was set to GREEN
gene: TCP1 was marked as current diagnostic
Added comment: previously known as CCT1

8x individuals including 5x de novo
6x PTCs + 2x missense

6/8 DD/ID
2/8 visual impairment
6/8 seizures
6/8 polymicrogyria + 1x Ventriculomegaly, white matter hyperintensities
Sources: Literature
Genetic Epilepsy v1.80 CCT3 Ain Roesley Marked gene: CCT3 as ready
Genetic Epilepsy v1.80 CCT3 Ain Roesley Gene: cct3 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.80 CCT3 Ain Roesley Classified gene: CCT3 as Green List (high evidence)
Genetic Epilepsy v1.80 CCT3 Ain Roesley Gene: cct3 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.79 CCT3 Ain Roesley gene: CCT3 was added
gene: CCT3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CCT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCT3 were set to 39480921
Phenotypes for gene: CCT3 were set to neurodevelopmental disorder MONDO:0700092, CCT3-related
Penetrance for gene: CCT3 were set to Complete
Review for gene: CCT3 was set to GREEN
gene: CCT3 was marked as current diagnostic
Added comment: 4x de novo - 3x PTCs and 1x missense

overlapping phenotypes:
4/4 ID/DD
3/4 visual impairment
2/4 seizures
4/4 Hypomyelination of white matter
Sources: Literature
Genetic Epilepsy v1.78 CLASP1 Ain Roesley Marked gene: CLASP1 as ready
Genetic Epilepsy v1.78 CLASP1 Ain Roesley Gene: clasp1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.78 CLASP1 Ain Roesley gene: CLASP1 was added
gene: CLASP1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CLASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLASP1 were set to 39040917
Phenotypes for gene: CLASP1 were set to neurodevelopmental disorder MONDO:0700092, CLASP1-related
Review for gene: CLASP1 was set to RED
gene: CLASP1 was marked as current diagnostic
Added comment: 3 siblings from a consanguineous family, homozygous for p.(Arg1481His)
at birth, all had low weight and microcephaly (< 3-4SD), profound dev delay, spasticity, seizures and lissencephaly

Arg1481His - 3 hets 0 Homs in v4
codon is highly conserved with a high REVEL score 0.83
Sources: Literature
Genetic Epilepsy v1.77 PPP2R2B Bryony Thompson Marked gene: PPP2R2B as ready
Genetic Epilepsy v1.77 PPP2R2B Bryony Thompson Gene: ppp2r2b has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.77 PPP2R2B Bryony Thompson Classified gene: PPP2R2B as Amber List (moderate evidence)
Genetic Epilepsy v1.77 PPP2R2B Bryony Thompson Gene: ppp2r2b has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.76 PPP2R2B Bryony Thompson gene: PPP2R2B was added
gene: PPP2R2B was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PPP2R2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP2R2B were set to 25356899; 39565297
Phenotypes for gene: PPP2R2B were set to Neurodevelopmental disorder MONDO:0700092, PPP2R2B-related
Review for gene: PPP2R2B was set to AMBER
Added comment: 5 cases with NDD and heterozygous missense (4/5 confirmed de novo): p.Thr246Lys (unknown inheritance), p.Asn310Lys (confirmed de novo), p.Glu37Lys (confirmed de novo, also had RNU4-2 path de novo Path variant), p.Ile427Thr (confirmed de novo, also had TAOK1 inherited Path variant), p.Arg149Pro (confirmed de novo). 5/5 with intellectual disability and developmental delay, 4/5 with seizures, 2/5 with hearing loss/auditory neuropathy. Study includes in vitro functional assays supporting a possible loss of function mechanism of disease. The 2 missense with additional diagnoses (E37K & I427T) demonstrated a partial reduction in PP2A holoenzyme assembly. Only 3 cases with a possible diagnosis that could be attributed to the PPP2R2B only, and only 2 were confirmed de novo.
Sources: Literature
Genetic Epilepsy v1.75 WDR47 Bryony Thompson Marked gene: WDR47 as ready
Genetic Epilepsy v1.75 WDR47 Bryony Thompson Gene: wdr47 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.75 WDR47 Bryony Thompson Classified gene: WDR47 as Green List (high evidence)
Genetic Epilepsy v1.75 WDR47 Bryony Thompson Gene: wdr47 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.74 WDR47 Bryony Thompson gene: WDR47 was added
gene: WDR47 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: WDR47 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR47 were set to 39609633
Phenotypes for gene: WDR47 were set to Complex neurodevelopmental disorder MONDO:0100038, WDR47-related
Review for gene: WDR47 was set to GREEN
Added comment: 7 cases from 5 unrelated families with biallelic variants and a complex neurodevelopmental syndrome. The most frequent phenotypes were corpus callosum dysgenesis (7/7), microcephaly (7/7), mild to severe intellectual disability (7/7), epilepsy (7/7). Additionally, mouse models recapitulate the human phenotype. Loss of function is the mechanism of disease. Heterozygous parents had no phenotype.
Sources: Literature
Genetic Epilepsy v1.73 DHRSX Zornitza Stark Phenotypes for gene: DHRSX were changed from congenital disorder of glycosylation, MONDO:0015286, DHRSX-related to Congenital disorder of glycosylation, type 1DD, MIM# 301133
Genetic Epilepsy v1.72 DHRSX Zornitza Stark edited their review of gene: DHRSX: Changed phenotypes: Congenital disorder of glycosylation, type 1DD, MIM# 301133
Genetic Epilepsy v1.72 DALRD3 Zornitza Stark Publications for gene: DALRD3 were set to 32427860
Genetic Epilepsy v1.71 MARK2 Zornitza Stark Marked gene: MARK2 as ready
Genetic Epilepsy v1.71 MARK2 Zornitza Stark Gene: mark2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.71 MARK2 Zornitza Stark Classified gene: MARK2 as Green List (high evidence)
Genetic Epilepsy v1.71 MARK2 Zornitza Stark Gene: mark2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.69 MARK2 chirag patel gene: MARK2 was added
gene: MARK2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MARK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MARK2 were set to PMID: 39419027, 39436150
Phenotypes for gene: MARK2 were set to Neurodevelopmental disorder MONDO:0700092
Review for gene: MARK2 was set to GREEN
Added comment: 31 individuals with autism spectrum disorder (30/31), intellectual disability/developmental delay (100%), motor delay (62%), speech-language problems (100%), seizure/epilepsy (46%), behaviour disorders (ADHD, aggression, anxiety)(74%), and distinctive facial features (narrow face, abnormal or broad forehead, downslanting palpebral fissures, and large or dysplastic ears).

WES/WGS identified 25 LOF and 6 missense variants in MARK2 gene (Microtubule affinity-regulating kinase 2) which contributes to establishing neuronal polarity and developing dendritic spines. LOF variants were de novo (16/25), inherited (4/25), or unk (5/25). All 6 missense variants were de novo and clustered in the kinase or KA1 domains.

The mRNA and protein expression of MARK2 in PBMCs were significantly lower in affected individuals with LOF variants than in the control group. In vitro expression assay of missense variants supported the effect of MARK2 loss. Proband-derived and CRISPR-engineered isogenic induced pluripotent stem cells (iPSCs) showed MARK2 loss leads to early neuronal developmental and functional deficits, including anomalous polarity and disorganization in neural rosettes, as well as imbalanced proliferation and differentiation in neural progenitor cells (NPCs). Mark2+/- mice showed abnormal cortical formation and partition and ASD-like behaviour. Through the use of RNA sequencing (RNA-seq) and lithium treatment, they linked MARK2 loss to downregulation of the WNT/β-catenin signaling pathway and identified lithium as a potential drug for treating MARK2-associated ASD.
Sources: Literature
Genetic Epilepsy v1.69 MARK2 chirag patel gene: MARK2 was added
gene: MARK2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MARK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MARK2 were set to PMID: 39419027, 39436150
Phenotypes for gene: MARK2 were set to Neurodevelopmental disorder MONDO:0700092
Review for gene: MARK2 was set to GREEN
Added comment: 31 individuals with autism spectrum disorder (30/31), intellectual disability/developmental delay (100%), motor delay (62%), speech-language problems (100%), seizure/epilepsy (46%), behaviour disorders (ADHD, aggression, anxiety)(74%), and distinctive facial features (narrow face, abnormal or broad forehead, downslanting palpebral fissures, and large or dysplastic ears).

WES/WGS identified 25 LOF and 6 missense variants in MARK2 gene (Microtubule affinity-regulating kinase 2) which contributes to establishing neuronal polarity and developing dendritic spines. LOF variants were de novo (16/25), inherited (4/25), or unk (5/25). All 6 missense variants were de novo and clustered in the kinase or KA1 domains.

The mRNA and protein expression of MARK2 in PBMCs were significantly lower in affected individuals with LOF variants than in the control group. In vitro expression assay of missense variants supported the effect of MARK2 loss. Proband-derived and CRISPR-engineered isogenic induced pluripotent stem cells (iPSCs) showed MARK2 loss leads to early neuronal developmental and functional deficits, including anomalous polarity and disorganization in neural rosettes, as well as imbalanced proliferation and differentiation in neural progenitor cells (NPCs). Mark2+/- mice showed abnormal cortical formation and partition and ASD-like behaviour. Through the use of RNA sequencing (RNA-seq) and lithium treatment, they linked MARK2 loss to downregulation of the WNT/β-catenin signaling pathway and identified lithium as a potential drug for treating MARK2-associated ASD.
Sources: Literature
Genetic Epilepsy v1.68 DALRD3 Sangavi Sivagnanasundram reviewed gene: DALRD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 39482881; Phenotypes: developmental and epileptic encephalopathy, 86 MONDO:0030054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.68 AJAP1 Zornitza Stark Marked gene: AJAP1 as ready
Genetic Epilepsy v1.68 AJAP1 Zornitza Stark Gene: ajap1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.68 AJAP1 Zornitza Stark Classified gene: AJAP1 as Green List (high evidence)
Genetic Epilepsy v1.68 AJAP1 Zornitza Stark Gene: ajap1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.67 AJAP1 Zornitza Stark Classified gene: AJAP1 as Green List (high evidence)
Genetic Epilepsy v1.67 AJAP1 Zornitza Stark Gene: ajap1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.66 AJAP1 Zornitza Stark gene: AJAP1 was added
gene: AJAP1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: AJAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AJAP1 were set to 38985877
Phenotypes for gene: AJAP1 were set to neurodevelopmental disorder, MONDO:0700092, AJAP1-related
Review for gene: AJAP1 was set to GREEN
Added comment: PMID:38985877 reported five unrelated individuals with monoallelic variants or a deletion in AJAP1 gene and they presented with epilepsy, neurodevelopmental problems, or intellectual disability. There is also supporting functional evidence available.
Sources: Literature
Genetic Epilepsy v1.65 DHRSX Zornitza Stark Marked gene: DHRSX as ready
Genetic Epilepsy v1.65 DHRSX Zornitza Stark Gene: dhrsx has been classified as Green List (High Evidence).
Genetic Epilepsy v1.65 DHRSX Zornitza Stark Classified gene: DHRSX as Green List (high evidence)
Genetic Epilepsy v1.65 DHRSX Zornitza Stark Gene: dhrsx has been classified as Green List (High Evidence).
Genetic Epilepsy v1.64 DHRSX Zornitza Stark gene: DHRSX was added
gene: DHRSX was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: DHRSX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHRSX were set to 38821050
Phenotypes for gene: DHRSX were set to congenital disorder of glycosylation, MONDO:0015286, DHRSX-related
Review for gene: DHRSX was set to GREEN
Added comment: PMID:38821050 reported the identification of biallelic missense variants in DHRSX gene in four patients from three unrelated families with a congenital disorder of glycosylation. They displayed distinct facial features, severe neurological involvement including hypotonia, scoliosis, contractures, profound intellectual disability, epilepsy, and sensorineural hearing loss. These patients also experienced severe failure to thrive (requiring tube feeding); variable respiratory insufficiency; and involvement of the eyes, the gastrointestinal system, and other organs.

Gene in PAR.
Sources: Literature
Genetic Epilepsy v1.63 FLVCR1 Bryony Thompson Marked gene: FLVCR1 as ready
Genetic Epilepsy v1.63 FLVCR1 Bryony Thompson Gene: flvcr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.63 FLVCR1 Bryony Thompson Classified gene: FLVCR1 as Green List (high evidence)
Genetic Epilepsy v1.63 FLVCR1 Bryony Thompson Gene: flvcr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.62 FLVCR1 Bryony Thompson gene: FLVCR1 was added
gene: FLVCR1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLVCR1 were set to 39306721
Phenotypes for gene: FLVCR1 were set to neurodevelopmental disorder MONDO:0700092, FLVCR1-related
Review for gene: FLVCR1 was set to GREEN
gene: FLVCR1 was marked as current diagnostic
Added comment: A study with 30 patients from 23 unrelated families with biallelic ultra-rare missense and predicted loss-of-function variants in FLVCR1 with a novel FLVCR1-related phenotype characterised by severe developmental disorders with profound developmental delay, microcephaly, brain malformations, epilepsy, spasticity, and premature death. Optic disk atrophy, limb and digital malformations, and macrocytic anaemia can be present.
Sources: Literature
Genetic Epilepsy v1.61 SECISBP2 Zornitza Stark Marked gene: SECISBP2 as ready
Genetic Epilepsy v1.61 SECISBP2 Zornitza Stark Gene: secisbp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.61 SECISBP2 Zornitza Stark Classified gene: SECISBP2 as Green List (high evidence)
Genetic Epilepsy v1.61 SECISBP2 Zornitza Stark Gene: secisbp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.60 SECISBP2 Zornitza Stark gene: SECISBP2 was added
gene: SECISBP2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SECISBP2 were set to 39315526
Phenotypes for gene: SECISBP2 were set to Thyroid hormone metabolism, abnormal, 1, MIM# 609698
Review for gene: SECISBP2 was set to GREEN
Added comment: Four individuals reported with bi-allelic variants and ID/seizures/autism phenotype.
Sources: Literature
Genetic Epilepsy v1.59 GMPPA Ain Roesley Phenotypes for gene: GMPPA were changed from Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510) to Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510)
Genetic Epilepsy v1.59 GMPPA Ain Roesley Phenotypes for gene: GMPPA were changed from Alacrima, achalasia, and mental retardation syndrome (MIM# 615510) to Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510)
Genetic Epilepsy v1.58 EPB41L3 Bryony Thompson Marked gene: EPB41L3 as ready
Genetic Epilepsy v1.58 EPB41L3 Bryony Thompson Gene: epb41l3 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.58 EPB41L3 Bryony Thompson Classified gene: EPB41L3 as Green List (high evidence)
Genetic Epilepsy v1.58 EPB41L3 Bryony Thompson Gene: epb41l3 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.57 EPB41L3 Bryony Thompson gene: EPB41L3 was added
gene: EPB41L3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: EPB41L3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPB41L3 were set to 39292993
Phenotypes for gene: EPB41L3 were set to neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities MONDO:0030063
Review for gene: EPB41L3 was set to GREEN
Added comment: 6 cases from 5 unrelated consanguineous families (2nd & 3rd degree) with homozygous LoF variants and a neurodevelopmental condition, including ID and seizures. Epb41l3 shRNA-mediated downregulation in mouse oligodendroglia demonstrated impaired oligodendrocyte function.
Sources: Literature
Genetic Epilepsy v1.56 RNU2-2P Zornitza Stark Marked gene: RNU2-2P as ready
Genetic Epilepsy v1.56 RNU2-2P Zornitza Stark Gene: rnu2-2p has been classified as Green List (High Evidence).
Genetic Epilepsy v1.56 RNU2-2P Zornitza Stark Classified gene: RNU2-2P as Green List (high evidence)
Genetic Epilepsy v1.56 RNU2-2P Zornitza Stark Gene: rnu2-2p has been classified as Green List (High Evidence).
Genetic Epilepsy v1.55 RNU2-2P Zornitza Stark Classified gene: RNU2-2P as Green List (high evidence)
Genetic Epilepsy v1.55 RNU2-2P Zornitza Stark Gene: rnu2-2p has been classified as Green List (High Evidence).
Genetic Epilepsy v1.54 RNU2-2P Zornitza Stark gene: RNU2-2P was added
gene: RNU2-2P was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: RNU2-2P was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNU2-2P were set to https://www.medrxiv.org/content/10.1101/2024.09.03.24312863v1
Phenotypes for gene: RNU2-2P were set to Neurodevelopmental disorder, MONDO:0700092, RNU2-2P-related
Review for gene: RNU2-2P was set to GREEN
Added comment: 15 individuals reported with de novo, recurrent variants in this gene at nucleotide positions 4 and 35. The disorder is characterized by intellectual disability, neurodevelopmental delay, autistic behavior, microcephaly, hypotonia, epilepsy and hyperventilation. All cases display a severe and complex seizure phenotype.
Sources: Literature
Genetic Epilepsy v1.53 PNPLA8 Zornitza Stark Marked gene: PNPLA8 as ready
Genetic Epilepsy v1.53 PNPLA8 Zornitza Stark Gene: pnpla8 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.53 PNPLA8 Zornitza Stark Phenotypes for gene: PNPLA8 were changed from Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related to Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related
Genetic Epilepsy v1.52 PNPLA8 Zornitza Stark Phenotypes for gene: PNPLA8 were changed from PNPLA8-related neurological diseases to Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related
Genetic Epilepsy v1.51 KMT2C Zornitza Stark Marked gene: KMT2C as ready
Genetic Epilepsy v1.51 KMT2C Zornitza Stark Gene: kmt2c has been classified as Green List (High Evidence).
Genetic Epilepsy v1.51 KMT2C Zornitza Stark Classified gene: KMT2C as Green List (high evidence)
Genetic Epilepsy v1.51 KMT2C Zornitza Stark Gene: kmt2c has been classified as Green List (High Evidence).
Genetic Epilepsy v1.50 KMT2C Zornitza Stark Classified gene: KMT2C as Green List (high evidence)
Genetic Epilepsy v1.50 KMT2C Zornitza Stark Gene: kmt2c has been classified as Green List (High Evidence).
Genetic Epilepsy v1.49 KMT2C Zornitza Stark gene: KMT2C was added
gene: KMT2C was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KMT2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2C were set to 39013459
Phenotypes for gene: KMT2C were set to Kleefstra syndrome 2, MIM# 617768
Review for gene: KMT2C was set to GREEN
Added comment: Large cohort of 98 individuals reported. Seizures are part of the phenotype.
Sources: Literature
Genetic Epilepsy v1.48 PNPLA8 chirag patel Classified gene: PNPLA8 as Green List (high evidence)
Genetic Epilepsy v1.48 PNPLA8 chirag patel Gene: pnpla8 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.47 PNPLA8 chirag patel gene: PNPLA8 was added
gene: PNPLA8 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PNPLA8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA8 were set to PMID: 39082157
Phenotypes for gene: PNPLA8 were set to PNPLA8-related neurological diseases
Review for gene: PNPLA8 was set to GREEN
gene: PNPLA8 was marked as current diagnostic
Added comment: Cohort analysis of clinical features of new and previously reported individuals with biallelic PNPLA8 variants (25 affected individuals across 20 families). They showed that PNPLA8-related neurological diseases manifest as a continuum ranging from variable developmental and/or degenerative epileptic-dyskinetic encephalopathy to childhood-onset neurodegeneration. Complete loss of PNPLA8 was associated with the more profound end of the spectrum. 19/25 individuals had seizures (onset 1 day to 31 years).

Using cerebral organoids generated from human induced pluripotent stem cells, they found that loss of PNPLA8 led to developmental defects by reducing the number of basal radial glial cells and upper-layer neurons. Neural progenitor cells lacking PNPLA8 showed a reduced amount of lysophosphatidic acid, lysophosphatidylethanolamine and phosphatidic acid. They show that PNPLA8 is crucial to meet phospholipid synthetic needs and to produce abundant basal radial glial cells in human brain development.
Sources: Literature
Genetic Epilepsy v1.46 Zornitza Stark List of related panels changed from Seizure; HP:0001250; Epileptic encephalopathy; HP:0200134 to Seizure; HP:0001250; Epileptic encephalopathy; HP:0200134; EEG abnormality; HP:0002353
Genetic Epilepsy v1.45 YIF1B Zornitza Stark Classified gene: YIF1B as Green List (high evidence)
Genetic Epilepsy v1.45 YIF1B Zornitza Stark Gene: yif1b has been classified as Green List (High Evidence).
Genetic Epilepsy v1.44 YIF1B Zornitza Stark edited their review of gene: YIF1B: Changed rating: GREEN
Genetic Epilepsy v1.44 YIF1B Zornitza Stark edited their review of gene: YIF1B: Added comment: Multiple additional individuals now reported, including others with seizures. DEFINITIVE by ClinGen.; Changed publications: 36948290, 33103737
Genetic Epilepsy v1.44 CSMD1 Zornitza Stark Marked gene: CSMD1 as ready
Genetic Epilepsy v1.44 CSMD1 Zornitza Stark Gene: csmd1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.44 CSMD1 Zornitza Stark Classified gene: CSMD1 as Green List (high evidence)
Genetic Epilepsy v1.44 CSMD1 Zornitza Stark Gene: csmd1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.43 CSMD1 Krithika Murali gene: CSMD1 was added
gene: CSMD1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CSMD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSMD1 were set to PMID: 38816421
Phenotypes for gene: CSMD1 were set to complex neurodevelopmental disorder MONDO:0100038
Review for gene: CSMD1 was set to GREEN
Added comment: PMID 38816421 Werren et al 2024 report 8 individuals from 6 families with biallelic missense CSMD1 variants identified through exome sequencing and subsequent gene-sharing efforts. Shared phenotypic features included: GDD, ID, microcephaly and polymicrogyria. Other features included dysmorphism, IUGR, hypotonia, arthrogryposis, seizures, opthalmological anomalies and other brain white matter anomalies Heterozygous parents were unaffected.

Loss of function is the postulated mechanism based on experimental data involving early-stage forebrain organoids differentiated from CSMD1 knockout human embryonic stem cells. ClinGen haploinsufficiency score of 1, however, this curation was last reviewed in 2018. This gene is within the scope of review for the ClinGen Autism and ID GCEP.
Sources: Literature
Genetic Epilepsy v1.42 Zornitza Stark List of related panels changed from Seizure; HP:0001250 to Seizure; HP:0001250; Epileptic encephalopathy; HP:0200134
Genetic Epilepsy v1.41 GLS Zornitza Stark Phenotypes for gene: GLS were changed from Epileptic encephalopathy, early infantile, 71, MIM# 618328; Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685 to Epileptic encephalopathy, early infantile, 71, MIM# 618328; Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685
Genetic Epilepsy v1.40 GLS Zornitza Stark Phenotypes for gene: GLS were changed from Epileptic encephalopathy, early infantile, 71, MIM# 618328 to Epileptic encephalopathy, early infantile, 71, MIM# 618328; Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685
Genetic Epilepsy v1.39 GLS Zornitza Stark Publications for gene: GLS were set to 30575854
Genetic Epilepsy v1.38 GLS Zornitza Stark Mode of inheritance for gene: GLS was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v1.37 GLS Zornitza Stark Classified gene: GLS as Green List (high evidence)
Genetic Epilepsy v1.37 GLS Zornitza Stark Gene: gls has been classified as Green List (High Evidence).
Genetic Epilepsy v1.36 GLS Zornitza Stark edited their review of gene: GLS: Added comment: PMID 38622440: additional individual reported with bi-allelic variants.

Note GoF variants also postulated to cause a neurodevelopmental phenotype, including seizures, though evidence is more limited, PMID 37151363. Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685; Changed rating: GREEN; Changed publications: 30575854, 38622440, 37151363; Changed phenotypes: Epileptic encephalopathy, early infantile, 71, MIM# 618328, Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v1.36 HDAC3 Zornitza Stark Marked gene: HDAC3 as ready
Genetic Epilepsy v1.36 HDAC3 Zornitza Stark Gene: hdac3 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.36 HDAC3 Zornitza Stark Classified gene: HDAC3 as Green List (high evidence)
Genetic Epilepsy v1.36 HDAC3 Zornitza Stark Gene: hdac3 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.35 HDAC3 Zornitza Stark Classified gene: HDAC3 as Green List (high evidence)
Genetic Epilepsy v1.35 HDAC3 Zornitza Stark Gene: hdac3 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.34 HDAC3 Zornitza Stark gene: HDAC3 was added
gene: HDAC3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: HDAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HDAC3 were set to 39047730
Phenotypes for gene: HDAC3 were set to Neurodevelopmental disorder, MONDO:0700092, HDAC3-related
Review for gene: HDAC3 was set to GREEN
Added comment: Six individuals with de novo missense variants in this gene and variable NDD phenotypes, including ID, seizures. Supportive functional data.
Sources: Literature
Genetic Epilepsy v1.33 SPATA5 Zornitza Stark Marked gene: SPATA5 as ready
Genetic Epilepsy v1.33 SPATA5 Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is AFG2A
Genetic Epilepsy v1.33 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.33 SPATA5 Zornitza Stark Tag new gene name tag was added to gene: SPATA5.
Genetic Epilepsy v1.33 USP25 Zornitza Stark Classified gene: USP25 as Green List (high evidence)
Genetic Epilepsy v1.33 USP25 Zornitza Stark Gene: usp25 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.32 USP25 Zornitza Stark gene: USP25 was added
gene: USP25 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: USP25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: USP25 were set to 38875478
Phenotypes for gene: USP25 were set to Epilepsy, idiopathic generalized, MONDO:0005579, USP25-related
Review for gene: USP25 was set to GREEN
Added comment: PMID: 38875478 5 heterozygous variants were identified in 8 individuals from 5 unrelated families all with clinical phenotypes associated with generalised epilepsy. Knock-out mouse model showed increased seizure susceptibility compared to the WT. Both loss of function and gain of function variants can be a mechanism of disease in individuals with USP25-related epilepsy.
Sources: Literature
Genetic Epilepsy v1.31 VPS50 Ain Roesley Publications for gene: VPS50 were set to 34037727; 38876772
Genetic Epilepsy v1.30 VPS50 Ain Roesley Publications for gene: VPS50 were set to 34037727; 38876772
Genetic Epilepsy v1.30 VPS50 Ain Roesley Classified gene: VPS50 as Green List (high evidence)
Genetic Epilepsy v1.30 VPS50 Ain Roesley Gene: vps50 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.30 VPS50 Ain Roesley Publications for gene: VPS50 were set to 34037727
Genetic Epilepsy v1.30 VPS50 Ain Roesley Classified gene: VPS50 as Green List (high evidence)
Genetic Epilepsy v1.30 VPS50 Ain Roesley Gene: vps50 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.29 VPS50 Ain Roesley commented on gene: VPS50: 1x proband Chet for a nonsense p.(Lys5*) and a complex structural variant of a 4.3Mb inversion, flanked by 170kb and 428kb deletions, respectively. The 428kb deletion spans the entire VPS50 gene.

Sanger confirmed the Lys5* to be 'homozygous' in the proband.

Phenotypes include:
severe ID, muscular hypotonia, sensorineural hearing impairment, microcephaly, nystagmus, seizures, hypoplastic corpus callous, neonatal low GGT cholesatsis, hepatomegaly, failure to thrive
Genetic Epilepsy v1.29 VPS50 Ain Roesley reviewed gene: VPS50: Rating: GREEN; Mode of pathogenicity: None; Publications: 38876772; Phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis MIM#619685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Genetic Epilepsy v1.29 PAK2 Ain Roesley Publications for gene: PAK2 were set to 33693784
Genetic Epilepsy v1.29 PAK2 Ain Roesley Classified gene: PAK2 as Amber List (moderate evidence)
Genetic Epilepsy v1.29 PAK2 Ain Roesley Gene: pak2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.28 PAK2 Ain Roesley reviewed gene: PAK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 38894571, 38712026; Phenotypes: Knobloch syndrome 2 MIM#618458; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Genetic Epilepsy v1.28 RBFOX3 Zornitza Stark Marked gene: RBFOX3 as ready
Genetic Epilepsy v1.28 RBFOX3 Zornitza Stark Gene: rbfox3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.28 RBFOX3 Zornitza Stark Classified gene: RBFOX3 as Amber List (moderate evidence)
Genetic Epilepsy v1.28 RBFOX3 Zornitza Stark Gene: rbfox3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.27 RBFOX3 Zornitza Stark gene: RBFOX3 was added
gene: RBFOX3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: RBFOX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RBFOX3 were set to 35951651; 36117209; 24039908
Phenotypes for gene: RBFOX3 were set to Neurodevelopmental disorder (MONDO:0700092), RBFOX3-related
Review for gene: RBFOX3 was set to AMBER
Added comment: Reported as a candidate gene for epilepsy, particularly Rolandic epilepsy. Two supportive animal models.
Sources: Literature
Genetic Epilepsy v1.26 ANO4 Zornitza Stark Marked gene: ANO4 as ready
Genetic Epilepsy v1.26 ANO4 Zornitza Stark Gene: ano4 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.26 ANO4 Zornitza Stark Classified gene: ANO4 as Green List (high evidence)
Genetic Epilepsy v1.26 ANO4 Zornitza Stark Gene: ano4 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.11 ANO4 Ain Roesley gene: ANO4 was added
gene: ANO4 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ANO4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANO4 were set to 38744284
Phenotypes for gene: ANO4 were set to neurodevelopmental disorder MONDO:0700092, ANO4-related
Review for gene: ANO4 was set to GREEN
gene: ANO4 was marked as current diagnostic
Added comment: aka TMEM16D

5x de novo + 2x inherited missense (73% penetrance + asymptomatic)

the ones with de novo variants:
all had ID, hypotonia
4x skeletal features (scoliosis, funnel chest, pet plants, hyper extensible joints)

all had epilepsy
all had abnormal MRI
Sources: Literature
Genetic Epilepsy v1.11 ANO4 Ain Roesley gene: ANO4 was added
gene: ANO4 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ANO4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANO4 were set to 38744284
Phenotypes for gene: ANO4 were set to neurodevelopmental disorder MONDO:0700092, ANO4-related
Review for gene: ANO4 was set to GREEN
gene: ANO4 was marked as current diagnostic
Added comment: aka TMEM16D

5x de novo + 2x inherited missense (73% penetrance + asymptomatic)

the ones with de novo variants:
all had ID, hypotonia
4x skeletal features (scoliosis, funnel chest, pet plants, hyper extensible joints)

all had epilepsy
all had abnormal MRI
Sources: Literature
Genetic Epilepsy v1.11 ANO4 Ain Roesley gene: ANO4 was added
gene: ANO4 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ANO4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANO4 were set to 38744284
Phenotypes for gene: ANO4 were set to neurodevelopmental disorder MONDO:0700092, ANO4-related
Review for gene: ANO4 was set to GREEN
gene: ANO4 was marked as current diagnostic
Added comment: aka TMEM16D

5x de novo + 2x inherited missense (73% penetrance + asymptomatic)

the ones with de novo variants:
all had ID, hypotonia
4x skeletal features (scoliosis, funnel chest, pet plants, hyper extensible joints)

all had epilepsy
all had abnormal MRI
Sources: Literature
Genetic Epilepsy v1.10 KCND1 Ain Roesley Marked gene: KCND1 as ready
Genetic Epilepsy v1.10 KCND1 Ain Roesley Gene: kcnd1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.10 KCND1 Ain Roesley Classified gene: KCND1 as Green List (high evidence)
Genetic Epilepsy v1.10 KCND1 Ain Roesley Gene: kcnd1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.9 KCND1 Ain Roesley gene: KCND1 was added
gene: KCND1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KCND1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: KCND1 were set to 38772379
Phenotypes for gene: KCND1 were set to neurodevelopmental disorder MONDO:0700092, KCND1-related
Review for gene: KCND1 was set to GREEN
gene: KCND1 was marked as current diagnostic
Added comment: 18 males from 17 families
2x de novo missense + 3x maternal NMDs + 12x maternal missense
Some functional studies were done

14x ID
4x delayed motor dev
7x muscular hypotonia
6x epilepsy
Sources: Literature
Genetic Epilepsy v1.8 PPFIA3 Zornitza Stark Publications for gene: PPFIA3 were set to 38723631
Genetic Epilepsy v1.7 PPFIA3 Zornitza Stark Publications for gene: PPFIA3 were set to 37034625
Genetic Epilepsy v1.6 PPFIA3 Zornitza Stark edited their review of gene: PPFIA3: Changed publications: 38723631
Genetic Epilepsy v1.6 GABRA4 Zornitza Stark Phenotypes for gene: GABRA4 were changed from Neurodevelopmental disorder MONDO:0700092, GABRA4-related to Neurodevelopmental disorder MONDO:0700092, GABRA4-related
Genetic Epilepsy v1.5 GABRA4 Zornitza Stark Phenotypes for gene: GABRA4 were changed from Developmental and epileptic encephalopathy MONDO:0100062, GABRA4-related to Neurodevelopmental disorder MONDO:0700092, GABRA4-related
Genetic Epilepsy v1.4 GABRA4 Zornitza Stark Classified gene: GABRA4 as Green List (high evidence)
Genetic Epilepsy v1.4 GABRA4 Zornitza Stark Gene: gabra4 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.3 GABRA4 Zornitza Stark Classified gene: GABRA4 as Green List (high evidence)
Genetic Epilepsy v1.3 GABRA4 Zornitza Stark Gene: gabra4 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.2 GABRA4 Zornitza Stark edited their review of gene: GABRA4: Added comment: Three more novel de novo missense variants in GABRA4 (NM_000809.4): c.797 C > T, p.(Pro266Leu), c.899 C > A, p.(Thr300Asn), and c.634 G > A, p.(Val212Ile) reported.

The p.(Thr300Asn) variant impacts the same codon as the previously reported variant p.(Thr300Ile) and likely arose post-zygotically as evidenced by sequencing oral mucosal cells.

Overlapping phenotypes among affected individuals included developmental delay (4/4), epileptiform EEG abnormalities (3/4), attention deficits (3/4), seizures (2/4), autistic features (2/4) and structural brain abnormalities (2/4).; Changed rating: GREEN; Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, GABRA4-related
Genetic Epilepsy v1.2 RAPGEF2 Zornitza Stark Marked gene: RAPGEF2 as ready
Genetic Epilepsy v1.2 RAPGEF2 Zornitza Stark Gene: rapgef2 has been removed from the panel.
Genetic Epilepsy v1.0 Zornitza Stark promoted panel to version 1.0
Genetic Epilepsy v0.2805 LMNB2 Zornitza Stark Marked gene: LMNB2 as ready
Genetic Epilepsy v0.2805 LMNB2 Zornitza Stark Gene: lmnb2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2805 LMNB2 Zornitza Stark Classified gene: LMNB2 as Amber List (moderate evidence)
Genetic Epilepsy v0.2805 LMNB2 Zornitza Stark Gene: lmnb2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2804 GABRA6 Zornitza Stark Marked gene: GABRA6 as ready
Genetic Epilepsy v0.2804 GABRA6 Zornitza Stark Gene: gabra6 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2804 FAME1 Zornitza Stark Marked STR: FAME1 as ready
Genetic Epilepsy v0.2804 FAME1 Zornitza Stark Str: fame1 has been removed from the panel.
Genetic Epilepsy v0.2804 FAME1 Zornitza Stark Classified STR: FAME1 as No list
Genetic Epilepsy v0.2804 FAME1 Zornitza Stark Str: fame1 has been removed from the panel.
Genetic Epilepsy v0.2803 RAPGEF2 Zornitza Stark Marked gene: RAPGEF2 as ready
Genetic Epilepsy v0.2803 RAPGEF2 Zornitza Stark Gene: rapgef2 has been removed from the panel.
Genetic Epilepsy v0.2803 PEX10 Zornitza Stark Classified gene: PEX10 as Green List (high evidence)
Genetic Epilepsy v0.2803 PEX10 Zornitza Stark Gene: pex10 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2802 PEX10 Zornitza Stark reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 6A (Zellweger), MIM#614870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2802 KATNB1 Zornitza Stark Marked gene: KATNB1 as ready
Genetic Epilepsy v0.2802 KATNB1 Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2802 KATNB1 Zornitza Stark Classified gene: KATNB1 as Green List (high evidence)
Genetic Epilepsy v0.2802 KATNB1 Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2801 KATNB1 Zornitza Stark reviewed gene: KATNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly 6, with microcephaly MIM#616212; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2801 JARID2 Zornitza Stark Marked gene: JARID2 as ready
Genetic Epilepsy v0.2801 JARID2 Zornitza Stark Gene: jarid2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2801 JARID2 Zornitza Stark Marked gene: JARID2 as ready
Genetic Epilepsy v0.2801 JARID2 Zornitza Stark Gene: jarid2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2801 KIF4A Zornitza Stark Marked gene: KIF4A as ready
Genetic Epilepsy v0.2801 KIF4A Zornitza Stark Gene: kif4a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2801 UBE3A Zornitza Stark Marked gene: UBE3A as ready
Genetic Epilepsy v0.2801 UBE3A Zornitza Stark Gene: ube3a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2801 UBE3A Zornitza Stark Phenotypes for gene: UBE3A were changed from to Angelman syndrome, MIM#105830
Genetic Epilepsy v0.2800 UBE3A Zornitza Stark Publications for gene: UBE3A were set to
Genetic Epilepsy v0.2799 UBE3A Zornitza Stark Mode of inheritance for gene: UBE3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Genetic Epilepsy v0.2798 UBE2A Zornitza Stark Marked gene: UBE2A as ready
Genetic Epilepsy v0.2798 UBE2A Zornitza Stark Gene: ube2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2798 UBE2A Zornitza Stark Phenotypes for gene: UBE2A were changed from to Intellectual developmental disorder, X-linked syndromic, Nascimento type 300860
Genetic Epilepsy v0.2797 UBE2A Zornitza Stark Publications for gene: UBE2A were set to
Genetic Epilepsy v0.2796 UBE2A Zornitza Stark Mode of inheritance for gene: UBE2A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.2795 UBE2A Zornitza Stark changed review comment from: >3 families reported. Obligate carrier females unaffected.
ClinGen: Definitively associated with syndromic X-linked ID; to: >3 families reported. Obligate carrier females unaffected.
ClinGen: Definitively associated with syndromic X-linked ID. Seizures are part of the phenotype.
Genetic Epilepsy v0.2795 UBE2A Zornitza Stark edited their review of gene: UBE2A: Changed phenotypes: Intellectual developmental disorder, X-linked syndromic, Nascimento type 300860
Genetic Epilepsy v0.2795 TUBG1 Zornitza Stark Marked gene: TUBG1 as ready
Genetic Epilepsy v0.2795 TUBG1 Zornitza Stark Gene: tubg1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2795 TUBG1 Zornitza Stark Phenotypes for gene: TUBG1 were changed from to Cortical dysplasia, complex, with other brain malformations 4, MIM# 615412
Genetic Epilepsy v0.2794 TUBG1 Zornitza Stark Publications for gene: TUBG1 were set to
Genetic Epilepsy v0.2793 TUBG1 Zornitza Stark Mode of inheritance for gene: TUBG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2792 TUBB4A Zornitza Stark Marked gene: TUBB4A as ready
Genetic Epilepsy v0.2792 TUBB4A Zornitza Stark Gene: tubb4a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2792 TUBB4A Zornitza Stark Phenotypes for gene: TUBB4A were changed from to Leukodystrophy, hypomyelinating, 6, OMIM # 612438
Genetic Epilepsy v0.2791 TUBB4A Zornitza Stark Publications for gene: TUBB4A were set to
Genetic Epilepsy v0.2790 TUBB4A Zornitza Stark Mode of inheritance for gene: TUBB4A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2789 TUBB4A Zornitza Stark edited their review of gene: TUBB4A: Changed phenotypes: Leukodystrophy, hypomyelinating, 6, OMIM # 612438
Genetic Epilepsy v0.2789 TUBB4A Zornitza Stark changed review comment from: Dystonia-4, also known as whispering dysphonia, is an autosomal dominant neurologic disorder characterized by onset in the second to third decade of progressive laryngeal dysphonia followed by the involvement of other muscles, such as the neck or limbs. Some patients develop an ataxic gait. At least 8 unrelated families reported.

Leukodystrophy: multiple individuals reported, onset of symptoms is typically in infancy and early childhood.; to: Leukodystrophy: multiple individuals reported, onset of symptoms is typically in infancy and early childhood. Seizures are part of the phenotype.
Genetic Epilepsy v0.2789 TUBB2B Zornitza Stark Marked gene: TUBB2B as ready
Genetic Epilepsy v0.2789 TUBB2B Zornitza Stark Gene: tubb2b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2789 TUBB2B Zornitza Stark Phenotypes for gene: TUBB2B were changed from to Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031
Genetic Epilepsy v0.2788 TUBB2B Zornitza Stark Publications for gene: TUBB2B were set to
Genetic Epilepsy v0.2787 TUBB2B Zornitza Stark Mode of inheritance for gene: TUBB2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2786 TUBB Zornitza Stark Marked gene: TUBB as ready
Genetic Epilepsy v0.2786 TUBB Zornitza Stark Gene: tubb has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2786 TUBB Zornitza Stark Phenotypes for gene: TUBB were changed from to Cortical dysplasia, complex, with other brain malformations 6, MIM# 615771
Genetic Epilepsy v0.2785 TUBB Zornitza Stark Publications for gene: TUBB were set to
Genetic Epilepsy v0.2784 TUBB Zornitza Stark Mode of inheritance for gene: TUBB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2783 TUBB Zornitza Stark changed review comment from: Established gene-disease association.; to: Established gene-disease association. Seizures are part of the phenotype.
Genetic Epilepsy v0.2783 TUBA1A Zornitza Stark Marked gene: TUBA1A as ready
Genetic Epilepsy v0.2783 TUBA1A Zornitza Stark Gene: tuba1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2783 TUBA1A Zornitza Stark Phenotypes for gene: TUBA1A were changed from to Lissencephaly 3, MIM# 611603
Genetic Epilepsy v0.2782 TUBA1A Zornitza Stark Mode of inheritance for gene: TUBA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2781 TSEN54 Zornitza Stark Marked gene: TSEN54 as ready
Genetic Epilepsy v0.2781 TSEN54 Zornitza Stark Gene: tsen54 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2781 TSEN54 Zornitza Stark Phenotypes for gene: TSEN54 were changed from to Pontocerebellar hypoplasia type 2A, MIM# 277470
Genetic Epilepsy v0.2780 TSEN54 Zornitza Stark Mode of inheritance for gene: TSEN54 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2779 TSEN54 Zornitza Stark changed review comment from: Gene-disease association between bi-allelic variants and PCH is well established, limited evidence for mono-allelic variants causing ataxia as per Bryony's review.; to: Gene-disease association between bi-allelic variants and PCH is well established, limited evidence for mono-allelic variants causing ataxia as per Bryony's review. Seizures are part of the PCH phenotype.
Genetic Epilepsy v0.2779 TSC2 Zornitza Stark Marked gene: TSC2 as ready
Genetic Epilepsy v0.2779 TSC2 Zornitza Stark Gene: tsc2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2779 TSC2 Zornitza Stark Phenotypes for gene: TSC2 were changed from to Tuberous sclerosis 2, MIM# 613254
Genetic Epilepsy v0.2778 TSC2 Zornitza Stark Mode of inheritance for gene: TSC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2777 TSC2 Zornitza Stark reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis 2, MIM# 613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2777 TSC1 Zornitza Stark Marked gene: TSC1 as ready
Genetic Epilepsy v0.2777 TSC1 Zornitza Stark Gene: tsc1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2777 TSC1 Zornitza Stark Phenotypes for gene: TSC1 were changed from to Tuberous sclerosis 1, MIM# 191100
Genetic Epilepsy v0.2776 TSC1 Zornitza Stark Mode of inheritance for gene: TSC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2775 TSC1 Zornitza Stark reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis 1, MIM# 191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2775 TPP1 Zornitza Stark Marked gene: TPP1 as ready
Genetic Epilepsy v0.2775 TPP1 Zornitza Stark Gene: tpp1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2775 TPP1 Zornitza Stark Phenotypes for gene: TPP1 were changed from to Ceroid lipofuscinosis, neuronal, 2, MIM# 204500; MONDO:0008769
Genetic Epilepsy v0.2774 TPP1 Zornitza Stark Publications for gene: TPP1 were set to
Genetic Epilepsy v0.2773 TPP1 Zornitza Stark Mode of inheritance for gene: TPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2772 TPP1 Zornitza Stark edited their review of gene: TPP1: Changed phenotypes: Ceroid lipofuscinosis, neuronal, 2, MIM# 204500, MONDO:0008769
Genetic Epilepsy v0.2772 TCF4 Zornitza Stark Marked gene: TCF4 as ready
Genetic Epilepsy v0.2772 TCF4 Zornitza Stark Gene: tcf4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2772 TCF4 Zornitza Stark Phenotypes for gene: TCF4 were changed from to Pitt-Hopkins syndrome, MIM# 610954
Genetic Epilepsy v0.2771 TCF4 Zornitza Stark Publications for gene: TCF4 were set to
Genetic Epilepsy v0.2770 TCF4 Zornitza Stark Mode of inheritance for gene: TCF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2769 TCF4 Zornitza Stark changed review comment from: The association with Pitt-Hopkins syndrome is well established.

Corneal dystrophy is associated with STR.; to: The association with Pitt-Hopkins syndrome is well established. Seizures are part of the phenotype.

Corneal dystrophy is associated with STR.
Genetic Epilepsy v0.2769 TBL1XR1 Zornitza Stark Marked gene: TBL1XR1 as ready
Genetic Epilepsy v0.2769 TBL1XR1 Zornitza Stark Gene: tbl1xr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2769 TBL1XR1 Zornitza Stark Phenotypes for gene: TBL1XR1 were changed from to Intellectual disability, autosomal dominant 41, MIM# 616944; Pierpont syndrome, MIM# 602342
Genetic Epilepsy v0.2768 TBL1XR1 Zornitza Stark Publications for gene: TBL1XR1 were set to
Genetic Epilepsy v0.2767 TBL1XR1 Zornitza Stark Mode of inheritance for gene: TBL1XR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2766 TBL1XR1 Zornitza Stark edited their review of gene: TBL1XR1: Changed phenotypes: Intellectual disability, autosomal dominant 41, MIM# 616944, Pierpont syndrome, MIM# 602342
Genetic Epilepsy v0.2766 TBC1D24 Zornitza Stark Marked gene: TBC1D24 as ready
Genetic Epilepsy v0.2766 TBC1D24 Zornitza Stark Gene: tbc1d24 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2766 TBC1D24 Zornitza Stark Phenotypes for gene: TBC1D24 were changed from to Developmental and epileptic encephalopathy 16 MIM#615338; DOORS syndrome MIM#220500; Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105; Myoclonic epilepsy, infantile, familial MIM#605021
Genetic Epilepsy v0.2765 TBC1D24 Zornitza Stark Mode of inheritance for gene: TBC1D24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2764 WASF1 Ain Roesley Phenotypes for gene: WASF1 were changed from Neurodevelopmental disorder with absent language and variable seizures , MIM#618707 to Neurodevelopmental disorder with absent language and variable seizures , MIM#618707
Genetic Epilepsy v0.2763 WASF1 Ain Roesley Publications for gene: WASF1 were set to 29961568; 34845217; 34478686; 34356165
Genetic Epilepsy v0.2763 WASF1 Ain Roesley Marked gene: WASF1 as ready
Genetic Epilepsy v0.2763 WASF1 Ain Roesley Gene: wasf1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2763 WASF1 Ain Roesley Phenotypes for gene: WASF1 were changed from Neurodevelopmental disorder with absent language and variable seizures , MIM#618707 to Neurodevelopmental disorder with absent language and variable seizures , MIM#618707
Genetic Epilepsy v0.2763 WASF1 Ain Roesley Phenotypes for gene: WASF1 were changed from to Neurodevelopmental disorder with absent language and variable seizures , MIM#618707
Genetic Epilepsy v0.2763 WASF1 Ain Roesley Publications for gene: WASF1 were set to
Genetic Epilepsy v0.2762 WASF1 Ain Roesley Mode of inheritance for gene: WASF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2762 WASF1 Ain Roesley Mode of inheritance for gene: WASF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2762 WASF1 Ain Roesley Mode of inheritance for gene: WASF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2761 WDR45 Ain Roesley Phenotypes for gene: WDR45 were changed from Neurodegeneration with brain iron accumulation 5, MIM# 300894; Rett syndrome; Rett-like phenotypes to Neurodegeneration with brain iron accumulation 5, MIM# 300894; Rett syndrome; Rett-like phenotypes
Genetic Epilepsy v0.2761 WDR45 Ain Roesley Mode of inheritance for gene: WDR45 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)
Genetic Epilepsy v0.2761 WDR45 Ain Roesley Publications for gene: WDR45 were set to 23176820; 30842224
Genetic Epilepsy v0.2760 WDR45 Ain Roesley Marked gene: WDR45 as ready
Genetic Epilepsy v0.2760 WDR45 Ain Roesley Gene: wdr45 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2760 WDR45 Ain Roesley Phenotypes for gene: WDR45 were changed from to Neurodegeneration with brain iron accumulation 5, MIM# 300894; Rett syndrome; Rett-like phenotypes
Genetic Epilepsy v0.2760 WDR45 Ain Roesley Publications for gene: WDR45 were set to
Genetic Epilepsy v0.2760 WDR45 Ain Roesley Mode of inheritance for gene: WDR45 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.2759 WDR73 Ain Roesley Phenotypes for gene: WDR73 were changed from Galloway-Mowat syndrome 1 MIM#251300 to Galloway-Mowat syndrome 1 MIM#251300
Genetic Epilepsy v0.2759 SYNJ1 Zornitza Stark Phenotypes for gene: SYNJ1 were changed from Developmental and epileptic encephalopathy 53, MIM# 617389 to Developmental and epileptic encephalopathy 53, MIM# 617389
Genetic Epilepsy v0.2759 SYNJ1 Zornitza Stark Phenotypes for gene: SYNJ1 were changed from Developmental and epileptic encephalopathy 53, MIM# 617389 to Developmental and epileptic encephalopathy 53, MIM# 617389
Genetic Epilepsy v0.2759 SYNJ1 Zornitza Stark Marked gene: SYNJ1 as ready
Genetic Epilepsy v0.2759 SYNJ1 Zornitza Stark Gene: synj1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2759 SYNJ1 Zornitza Stark Phenotypes for gene: SYNJ1 were changed from Developmental and epileptic encephalopathy 53, MIM# 617389; Parkinson disease 20, early-onset, MIM# 615530 to Developmental and epileptic encephalopathy 53, MIM# 617389
Genetic Epilepsy v0.2759 WDR73 Ain Roesley Phenotypes for gene: WDR73 were changed from Galloway-Mowat syndrome 1 MIM#251300 to Galloway-Mowat syndrome 1 MIM#251300
Genetic Epilepsy v0.2759 WDR73 Ain Roesley Publications for gene: WDR73 were set to 25466283; 26123727; 25873735; 26070982; 30315938
Genetic Epilepsy v0.2758 WDR73 Ain Roesley Marked gene: WDR73 as ready
Genetic Epilepsy v0.2758 WDR73 Ain Roesley Gene: wdr73 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2758 WDR73 Ain Roesley Phenotypes for gene: WDR73 were changed from to Galloway-Mowat syndrome 1 MIM#251300
Genetic Epilepsy v0.2758 WDR73 Ain Roesley Publications for gene: WDR73 were set to
Genetic Epilepsy v0.2758 WDR73 Ain Roesley Mode of inheritance for gene: WDR73 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2757 RAB18 Zornitza Stark Marked gene: RAB18 as ready
Genetic Epilepsy v0.2757 RAB18 Zornitza Stark Gene: rab18 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2757 RAB18 Zornitza Stark Phenotypes for gene: RAB18 were changed from to Warburg micro syndrome 3, MIM# 614222
Genetic Epilepsy v0.2756 RAB18 Zornitza Stark Publications for gene: RAB18 were set to
Genetic Epilepsy v0.2755 RAB18 Zornitza Stark Mode of inheritance for gene: RAB18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2754 RAB18 Zornitza Stark changed review comment from: Autosomal recessive syndrome characterised by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. At least 7 families reported, including 4 Pakistani families with a founder variant, p.Leu24Gln; to: Autosomal recessive syndrome characterised by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. At least 7 families reported, including 4 Pakistani families with a founder variant, p.Leu24Gln. Seizures are part of the phenotype.
Genetic Epilepsy v0.2754 ZDHHC15 Zornitza Stark Phenotypes for gene: ZDHHC15 were changed from Mental retardation X-linked 91, 300577; cerebral palsy; intellectual disability; autism spectrum disorder; epilepsy to Intellectual disability, X-linked 91, 300577
Genetic Epilepsy v0.2753 ZDHHC15 Zornitza Stark edited their review of gene: ZDHHC15: Changed phenotypes: Intellectual disability, X-linked 91, 300577
Genetic Epilepsy v0.2753 SYN1 Zornitza Stark Marked gene: SYN1 as ready
Genetic Epilepsy v0.2753 SYN1 Zornitza Stark Gene: syn1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2753 SYN1 Zornitza Stark Phenotypes for gene: SYN1 were changed from to Epilepsy, X-linked, with variable learning disabilities and behaviour disorders, MIM# 300491; Intellectual developmental disorder, X-linked 50, MIM# 300115
Genetic Epilepsy v0.2752 SYN1 Zornitza Stark Publications for gene: SYN1 were set to 14985377; 21441247; 28973667; 21441247; 34243774
Genetic Epilepsy v0.2752 SYN1 Zornitza Stark Publications for gene: SYN1 were set to
Genetic Epilepsy v0.2751 SYN1 Zornitza Stark Mode of inheritance for gene: SYN1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.2750 SURF1 Zornitza Stark Marked gene: SURF1 as ready
Genetic Epilepsy v0.2750 SURF1 Zornitza Stark Gene: surf1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2750 SURF1 Zornitza Stark Phenotypes for gene: SURF1 were changed from to Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110
Genetic Epilepsy v0.2749 SURF1 Zornitza Stark Publications for gene: SURF1 were set to
Genetic Epilepsy v0.2748 SURF1 Zornitza Stark Mode of inheritance for gene: SURF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2747 SURF1 Zornitza Stark changed review comment from: Well established gene-disease association with mitochondrial disease.; to: Well established gene-disease association with mitochondrial disease. Seizures are part of the phenotype.
Genetic Epilepsy v0.2747 SUOX Zornitza Stark Marked gene: SUOX as ready
Genetic Epilepsy v0.2747 SUOX Zornitza Stark Gene: suox has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2747 SUOX Zornitza Stark Phenotypes for gene: SUOX were changed from to Sulfite oxidase deficiency, MIM# 272300
Genetic Epilepsy v0.2746 SUOX Zornitza Stark Publications for gene: SUOX were set to
Genetic Epilepsy v0.2745 SUOX Zornitza Stark Mode of inheritance for gene: SUOX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2744 SUOX Zornitza Stark changed review comment from: More than 5 unrelated families reported.; to: More than 5 unrelated families reported. Seizures are part of the phenotype.
Genetic Epilepsy v0.2744 SUCLA2 Zornitza Stark Marked gene: SUCLA2 as ready
Genetic Epilepsy v0.2744 SUCLA2 Zornitza Stark Gene: sucla2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2744 SUCLA2 Zornitza Stark Phenotypes for gene: SUCLA2 were changed from to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791
Genetic Epilepsy v0.2743 SUCLA2 Zornitza Stark Publications for gene: SUCLA2 were set to
Genetic Epilepsy v0.2742 SUCLA2 Zornitza Stark Mode of inheritance for gene: SUCLA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2741 STRADA Zornitza Stark Marked gene: STRADA as ready
Genetic Epilepsy v0.2741 STRADA Zornitza Stark Gene: strada has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2741 STRADA Zornitza Stark Phenotypes for gene: STRADA were changed from to Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087; Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611
Genetic Epilepsy v0.2740 STRADA Zornitza Stark Publications for gene: STRADA were set to
Genetic Epilepsy v0.2739 STRADA Zornitza Stark Mode of inheritance for gene: STRADA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2738 STAG1 Zornitza Stark Marked gene: STAG1 as ready
Genetic Epilepsy v0.2738 STAG1 Zornitza Stark Gene: stag1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2738 STAG1 Zornitza Stark Phenotypes for gene: STAG1 were changed from to Intellectual disability, autosomal dominant 47, MIM# 617635
Genetic Epilepsy v0.2737 STAG1 Zornitza Stark Publications for gene: STAG1 were set to
Genetic Epilepsy v0.2736 STAG1 Zornitza Stark Mode of inheritance for gene: STAG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2735 STAG1 Zornitza Stark changed review comment from: Twelve unrelated individuals reported in the original paper.; to: Twelve unrelated individuals reported in the original paper. Seizures are part of the phenotype.
Genetic Epilepsy v0.2735 STAG1 Zornitza Stark edited their review of gene: STAG1: Changed phenotypes: Intellectual disability, autosomal dominant 47, MIM# 617635
Genetic Epilepsy v0.2735 SPR Zornitza Stark Marked gene: SPR as ready
Genetic Epilepsy v0.2735 SPR Zornitza Stark Gene: spr has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2735 SPR Zornitza Stark Phenotypes for gene: SPR were changed from to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716
Genetic Epilepsy v0.2734 SPR Zornitza Stark Publications for gene: SPR were set to
Genetic Epilepsy v0.2733 SPR Zornitza Stark Mode of inheritance for gene: SPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2732 SPR Zornitza Stark changed review comment from: Complex movement disorder, dystonia predominant, but ataxia described in some individuals. Most individuals have had bi-allelic variants identified, uncertain whether there is an association with mono-allelic variants.

Included due to phenotypic overlap.; to: Complex movement disorder, dystonia predominant, but ataxia described in some individuals. Most individuals have had bi-allelic variants identified, uncertain whether there is an association with mono-allelic variants.

Seizures reported.
Genetic Epilepsy v0.2732 SPR Zornitza Stark changed review comment from: Complex movement disorder, dystonia predominant, but ataxia described in some individuals. Most individuals have had bi-allelic variants identified, uncertain whether there is an association with mono-allelic variants.; to: Complex movement disorder, dystonia predominant, but ataxia described in some individuals. Most individuals have had bi-allelic variants identified, uncertain whether there is an association with mono-allelic variants.

Included due to phenotypic overlap.
Genetic Epilepsy v0.2732 SNAP25 Zornitza Stark Marked gene: SNAP25 as ready
Genetic Epilepsy v0.2732 SNAP25 Zornitza Stark Gene: snap25 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2732 SNAP25 Zornitza Stark Phenotypes for gene: SNAP25 were changed from to Neurodevelopmental disorder, MONDO:0700092, SNAP25-related
Genetic Epilepsy v0.2731 SNAP25 Zornitza Stark Publications for gene: SNAP25 were set to
Genetic Epilepsy v0.2730 SNAP25 Zornitza Stark Mode of inheritance for gene: SNAP25 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2729 SNAP25 Zornitza Stark changed review comment from: More than 5 unrelated individuals reported with a neurodevelopmental disorder.

Limited evidence for this being congenital myasthenic syndrome,; to: More than 5 unrelated individuals reported with a neurodevelopmental disorder, including seizures.

Limited evidence for this being congenital myasthenic syndrome,
Genetic Epilepsy v0.2729 SLC6A8 Zornitza Stark Marked gene: SLC6A8 as ready
Genetic Epilepsy v0.2729 SLC6A8 Zornitza Stark Gene: slc6a8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2729 SLC6A8 Zornitza Stark Phenotypes for gene: SLC6A8 were changed from Cerebral creatine deficiency syndrome 1, MIM# 300352 to Cerebral creatine deficiency syndrome 1, MIM# 300352
Genetic Epilepsy v0.2728 SLC6A8 Zornitza Stark Phenotypes for gene: SLC6A8 were changed from to Cerebral creatine deficiency syndrome 1, MIM# 300352
Genetic Epilepsy v0.2727 SLC6A8 Zornitza Stark Publications for gene: SLC6A8 were set to
Genetic Epilepsy v0.2726 SLC6A8 Zornitza Stark Mode of inheritance for gene: SLC6A8 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.2725 SLC6A8 Zornitza Stark changed review comment from: Well established gene-disease association.
Sources: Expert list; to: Well established gene-disease association. Seizures are part of the phenotype.
Sources: Expert list
Genetic Epilepsy v0.2725 SLC6A19 Zornitza Stark Marked gene: SLC6A19 as ready
Genetic Epilepsy v0.2725 SLC6A19 Zornitza Stark Gene: slc6a19 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2725 SLC6A19 Zornitza Stark Phenotypes for gene: SLC6A19 were changed from to Hartnup disorder, MIM# 234500
Genetic Epilepsy v0.2724 SLC6A19 Zornitza Stark Mode of inheritance for gene: SLC6A19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2723 SLC6A19 Zornitza Stark changed review comment from: Bi-allelic variants associated with Hartnup disorder, which is characterised by impaired transport of neutral amino acids across epithelial cells in renal proximal tubules and intestinal mucosa. Symptoms include transient manifestations of pellagra, cerebellar ataxia, and psychosis.

Hyperglycinuria/iminoglycinuria: The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria is a benign inborn error of amino acid transport, and is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG)
Sources: Expert list; to: Bi-allelic variants associated with Hartnup disorder, which is characterised by impaired transport of neutral amino acids across epithelial cells in renal proximal tubules and intestinal mucosa. Symptoms include transient manifestations of pellagra, cerebellar ataxia, and psychosis. Seizures are part of the phenotype.

Hyperglycinuria/iminoglycinuria: The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria is a benign inborn error of amino acid transport, and is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG)
Sources: Expert list
Genetic Epilepsy v0.2723 SLC6A19 Zornitza Stark edited their review of gene: SLC6A19: Changed phenotypes: Hartnup disorder, MIM# 234500; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2723 SLC35A2 Zornitza Stark Marked gene: SLC35A2 as ready
Genetic Epilepsy v0.2723 SLC35A2 Zornitza Stark Gene: slc35a2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2723 SLC35A2 Zornitza Stark Phenotypes for gene: SLC35A2 were changed from Congenital disorder of glycosylation, type IIm (MIM #300896) 30817854; Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) to Congenital disorder of glycosylation, type IIm (MIM #300896) 30817854; Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
Genetic Epilepsy v0.2722 SLC35A2 Zornitza Stark Phenotypes for gene: SLC35A2 were changed from to Congenital disorder of glycosylation, type IIm (MIM #300896) 30817854; Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
Genetic Epilepsy v0.2721 SLC35A2 Zornitza Stark Publications for gene: SLC35A2 were set to
Genetic Epilepsy v0.2720 SLC35A2 Zornitza Stark Mode of inheritance for gene: SLC35A2 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)
Genetic Epilepsy v0.2719 SLC35A2 Zornitza Stark Mode of inheritance for gene: SLC35A2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.2718 SLC2A1 Zornitza Stark Marked gene: SLC2A1 as ready
Genetic Epilepsy v0.2718 SLC2A1 Zornitza Stark Gene: slc2a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2718 SLC2A1 Zornitza Stark Phenotypes for gene: SLC2A1 were changed from to GLUT1 deficiency syndrome 1, infantile onset, severe, 606777; GLUT1 deficiency syndrome 2, childhood onset, 612126
Genetic Epilepsy v0.2717 SLC2A1 Zornitza Stark Publications for gene: SLC2A1 were set to
Genetic Epilepsy v0.2716 SLC2A1 Zornitza Stark Mode of inheritance for gene: SLC2A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.2715 SLC25A1 Zornitza Stark Marked gene: SLC25A1 as ready
Genetic Epilepsy v0.2715 SLC25A1 Zornitza Stark Gene: slc25a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2715 SLC25A1 Zornitza Stark Phenotypes for gene: SLC25A1 were changed from to Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072
Genetic Epilepsy v0.2714 SLC25A1 Zornitza Stark Publications for gene: SLC25A1 were set to
Genetic Epilepsy v0.2713 SLC25A1 Zornitza Stark Mode of inheritance for gene: SLC25A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2712 SLC25A1 Zornitza Stark reviewed gene: SLC25A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2712 SHROOM4 Zornitza Stark Marked gene: SHROOM4 as ready
Genetic Epilepsy v0.2712 SHROOM4 Zornitza Stark Gene: shroom4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2712 SETBP1 Zornitza Stark Marked gene: SETBP1 as ready
Genetic Epilepsy v0.2712 SETBP1 Zornitza Stark Gene: setbp1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2712 SETBP1 Zornitza Stark Phenotypes for gene: SETBP1 were changed from to Schinzel-Giedion midface retraction syndrome, MIM# 269150; Intellectual disability, autosomal dominant 29, MIM# 616078
Genetic Epilepsy v0.2711 SETBP1 Zornitza Stark Publications for gene: SETBP1 were set to
Genetic Epilepsy v0.2710 SETBP1 Zornitza Stark Mode of inheritance for gene: SETBP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2709 SEPSECS Zornitza Stark Marked gene: SEPSECS as ready
Genetic Epilepsy v0.2709 SEPSECS Zornitza Stark Gene: sepsecs has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2709 SEPSECS Zornitza Stark Phenotypes for gene: SEPSECS were changed from to Pontocerebellar hypoplasia type 2D, MIM# 613811
Genetic Epilepsy v0.2708 SEPSECS Zornitza Stark Publications for gene: SEPSECS were set to
Genetic Epilepsy v0.2707 SEPSECS Zornitza Stark Mode of inheritance for gene: SEPSECS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2706 SEPSECS Zornitza Stark changed review comment from: PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound mental retardation, spasticity, and variable seizures. At least 5 unrelated families reported.; to: PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound ID, spasticity, and variable seizures. At least 5 unrelated families reported.
Genetic Epilepsy v0.2706 SCO2 Zornitza Stark Marked gene: SCO2 as ready
Genetic Epilepsy v0.2706 SCO2 Zornitza Stark Gene: sco2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2706 SCO2 Zornitza Stark Phenotypes for gene: SCO2 were changed from to Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377
Genetic Epilepsy v0.2705 SCO2 Zornitza Stark Mode of inheritance for gene: SCO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2704 SCO2 Zornitza Stark reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10545952, 10749987, 18924171; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2704 SCN2A Zornitza Stark Marked gene: SCN2A as ready
Genetic Epilepsy v0.2704 SCN2A Zornitza Stark Gene: scn2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2704 SCN2A Zornitza Stark Phenotypes for gene: SCN2A were changed from to Seizures, benign familial infantile, 3, MIM# 607745; Developmental and epileptic encephalopathy 11, MIM# 613721
Genetic Epilepsy v0.2703 SCN2A Zornitza Stark Publications for gene: SCN2A were set to
Genetic Epilepsy v0.2702 SCN2A Zornitza Stark Mode of inheritance for gene: SCN2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2701 SCN2A Zornitza Stark changed review comment from: Classically presents with seizures and DD/ID although a range of other manifestations reported, including movement abnormalities, including ataxia. Rather than being discrete disorders, these probably represent a continuum of manifestations of a single brain channelopathy disorder.

Multiple families reported.; to: Classically presents with seizures and DD/ID although a range of other manifestations reported, including movement abnormalities, including DEE. Rather than being discrete disorders, these probably represent a continuum of manifestations of a single brain channelopathy disorder.

Multiple families reported.
Genetic Epilepsy v0.2701 SAMHD1 Zornitza Stark Marked gene: SAMHD1 as ready
Genetic Epilepsy v0.2701 SAMHD1 Zornitza Stark Gene: samhd1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2701 SAMHD1 Zornitza Stark Phenotypes for gene: SAMHD1 were changed from to Aicardi-Goutieres syndrome 5, MIM# 612952
Genetic Epilepsy v0.2700 SAMHD1 Zornitza Stark Publications for gene: SAMHD1 were set to
Genetic Epilepsy v0.2699 SAMHD1 Zornitza Stark Mode of inheritance for gene: SAMHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2698 RTTN Zornitza Stark Marked gene: RTTN as ready
Genetic Epilepsy v0.2698 RTTN Zornitza Stark Gene: rttn has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2698 RTTN Zornitza Stark Phenotypes for gene: RTTN were changed from to Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833
Genetic Epilepsy v0.2697 RTTN Zornitza Stark Publications for gene: RTTN were set to
Genetic Epilepsy v0.2696 RTTN Zornitza Stark Mode of inheritance for gene: RTTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2695 RTTN Zornitza Stark reviewed gene: RTTN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2695 RTN4IP1 Zornitza Stark Marked gene: RTN4IP1 as ready
Genetic Epilepsy v0.2695 RTN4IP1 Zornitza Stark Gene: rtn4ip1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2695 RTN4IP1 Zornitza Stark Phenotypes for gene: RTN4IP1 were changed from to Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732
Genetic Epilepsy v0.2694 RTN4IP1 Zornitza Stark Publications for gene: RTN4IP1 were set to
Genetic Epilepsy v0.2693 RTN4IP1 Zornitza Stark Mode of inheritance for gene: RTN4IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2692 RRM2B Zornitza Stark Marked gene: RRM2B as ready
Genetic Epilepsy v0.2692 RRM2B Zornitza Stark Gene: rrm2b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2692 RRM2B Zornitza Stark Phenotypes for gene: RRM2B were changed from to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075
Genetic Epilepsy v0.2691 RRM2B Zornitza Stark Publications for gene: RRM2B were set to
Genetic Epilepsy v0.2690 RRM2B Zornitza Stark Mode of inheritance for gene: RRM2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2689 RRM2B Zornitza Stark Deleted their review
Genetic Epilepsy v0.2689 RNU4ATAC Zornitza Stark Marked gene: RNU4ATAC as ready
Genetic Epilepsy v0.2689 RNU4ATAC Zornitza Stark Gene: rnu4atac has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2689 RNU4ATAC Zornitza Stark Phenotypes for gene: RNU4ATAC were changed from to Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710); Roifman syndrome (MIM# 616651); Lowry-Wood syndrome, MIM# 226960
Genetic Epilepsy v0.2688 RNU4ATAC Zornitza Stark Publications for gene: RNU4ATAC were set to
Genetic Epilepsy v0.2687 RNU4ATAC Zornitza Stark Mode of inheritance for gene: RNU4ATAC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2686 RNU4ATAC Zornitza Stark edited their review of gene: RNU4ATAC: Changed phenotypes: Microcephalic osteodysplastic primordial dwarfism, type I, MIM# 210710, Lowry-Wood syndrome, MIM# 226960
Genetic Epilepsy v0.2686 RNU4ATAC Zornitza Stark changed review comment from: Lowry-Wood syndrome (LWS) is characterized by multiple epiphyseal dysplasia and microcephaly. Patients exhibit intrauterine growth retardation and short stature, as well as developmental delay and intellectual disability. Retinal degeneration has been reported in some patients.

Four unrelated families reported.

Note features between the three RNU4ATAC-related conditions overlap and they may not represent distinct disorders.; to: Lowry-Wood syndrome (LWS) is characterized by multiple epiphyseal dysplasia and microcephaly. Patients exhibit intrauterine growth retardation and short stature, as well as developmental delay and intellectual disability. Retinal degeneration has been reported in some patients.

Four unrelated families reported.

Note features between the three RNU4ATAC-related conditions overlap and they may not represent distinct disorders.

Seizures reported with the Microcephalic osteodysplastic primordial dwarfism, type I, MIM# 210710 phenotype.
Genetic Epilepsy v0.2686 RNASET2 Zornitza Stark Marked gene: RNASET2 as ready
Genetic Epilepsy v0.2686 RNASET2 Zornitza Stark Gene: rnaset2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2686 RNASET2 Zornitza Stark Phenotypes for gene: RNASET2 were changed from to Leukoencephalopathy, cystic, without megalencephaly MIM#612951
Genetic Epilepsy v0.2685 RNASET2 Zornitza Stark Publications for gene: RNASET2 were set to
Genetic Epilepsy v0.2684 RNASET2 Zornitza Stark Mode of inheritance for gene: RNASET2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2683 RNASEH2C Zornitza Stark Marked gene: RNASEH2C as ready
Genetic Epilepsy v0.2683 RNASEH2C Zornitza Stark Gene: rnaseh2c has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2683 RNASEH2C Zornitza Stark Phenotypes for gene: RNASEH2C were changed from to Aicardi-Goutieres syndrome 3 (MIM# 610329)
Genetic Epilepsy v0.2682 RNASEH2C Zornitza Stark Publications for gene: RNASEH2C were set to
Genetic Epilepsy v0.2681 RNASEH2C Zornitza Stark Mode of inheritance for gene: RNASEH2C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2680 RNASEH2B Zornitza Stark Marked gene: RNASEH2B as ready
Genetic Epilepsy v0.2680 RNASEH2B Zornitza Stark Gene: rnaseh2b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2680 RNASEH2B Zornitza Stark Phenotypes for gene: RNASEH2B were changed from to Aicardi-Goutieres syndrome 2, MIM# 610181
Genetic Epilepsy v0.2679 RNASEH2B Zornitza Stark Publications for gene: RNASEH2B were set to
Genetic Epilepsy v0.2678 RNASEH2B Zornitza Stark Mode of inheritance for gene: RNASEH2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2677 RNASEH2A Zornitza Stark Marked gene: RNASEH2A as ready
Genetic Epilepsy v0.2677 RNASEH2A Zornitza Stark Gene: rnaseh2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2677 RNASEH2A Zornitza Stark Marked gene: RNASEH2A as ready
Genetic Epilepsy v0.2677 RNASEH2A Zornitza Stark Gene: rnaseh2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2677 RNASEH2A Zornitza Stark Phenotypes for gene: RNASEH2A were changed from to Aicardi-Goutieres syndrome 4 MIM#610333
Genetic Epilepsy v0.2676 RNASEH2A Zornitza Stark Publications for gene: RNASEH2A were set to
Genetic Epilepsy v0.2675 RNASEH2A Zornitza Stark Mode of inheritance for gene: RNASEH2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2674 POMT1 Zornitza Stark Marked gene: POMT1 as ready
Genetic Epilepsy v0.2674 POMT1 Zornitza Stark Gene: pomt1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2674 POMT1 Zornitza Stark Phenotypes for gene: POMT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670
Genetic Epilepsy v0.2673 POMT1 Zornitza Stark Mode of inheritance for gene: POMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2672 POMT1 Zornitza Stark edited their review of gene: POMT1: Changed phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670
Genetic Epilepsy v0.2672 POMT1 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Seizures are part of the more severe end of the phenotype.
Genetic Epilepsy v0.2672 POMGNT1 Zornitza Stark Marked gene: POMGNT1 as ready
Genetic Epilepsy v0.2672 POMGNT1 Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2672 POMGNT1 Zornitza Stark Phenotypes for gene: POMGNT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 MIM#614830
Genetic Epilepsy v0.2671 POMGNT1 Zornitza Stark Publications for gene: POMGNT1 were set to
Genetic Epilepsy v0.2670 POMGNT1 Zornitza Stark Mode of inheritance for gene: POMGNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2669 POMGNT1 Zornitza Stark changed review comment from: PMID 26908613 and 27391550: 4 unrelated families with isolated RP in adults.

Well established association with dystroglycanopathy.; to: Well established association with dystroglycanopathy. Seizures are a feature of the more severe end of the spectrum.
Genetic Epilepsy v0.2669 POLG Zornitza Stark Marked gene: POLG as ready
Genetic Epilepsy v0.2669 POLG Zornitza Stark Gene: polg has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2669 POLG Zornitza Stark Phenotypes for gene: POLG were changed from to Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM# 613662
Genetic Epilepsy v0.2668 POLG Zornitza Stark Publications for gene: POLG were set to
Genetic Epilepsy v0.2667 POLG Zornitza Stark Mode of inheritance for gene: POLG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2666 POLG Zornitza Stark edited their review of gene: POLG: Added comment: Seizures are a feature of the more severe, recessive disorders associated with this gene.; Changed phenotypes: Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700, Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM# 613662; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2666 STAT3 Ain Roesley Marked gene: STAT3 as ready
Genetic Epilepsy v0.2666 STAT3 Ain Roesley Gene: stat3 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2666 STAT3 Ain Roesley gene: STAT3 was added
gene: STAT3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: STAT3 was set to Unknown
Publications for gene: STAT3 were set to 36935347
Review for gene: STAT3 was set to RED
gene: STAT3 was marked as current diagnostic
Added comment: No evidence of STAT3 being reported in individuals with seizures/epilepsy. Only mouse models.
Sources: Literature
Genetic Epilepsy v0.2665 KCNIP4 Ain Roesley Marked gene: KCNIP4 as ready
Genetic Epilepsy v0.2665 KCNIP4 Ain Roesley Gene: kcnip4 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2665 KCNIP4 Ain Roesley gene: KCNIP4 was added
gene: KCNIP4 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KCNIP4 was set to Unknown
Publications for gene: KCNIP4 were set to 33826137
Phenotypes for gene: KCNIP4 were set to seizures; epilepsy
Review for gene: KCNIP4 was set to RED
gene: KCNIP4 was marked as current diagnostic
Added comment: single paper describing insertions of L1 retrotransposons in KCNIP4
samples were post-mortem of resected temporal cortex from individuals with idiopathic temporal lobe epilepsy

1x de novo insertion of L1 in KCNIP4 however ddPCR revealed that this did NOT alter KCNIP4 mRNA expression
Sources: Literature
Genetic Epilepsy v0.2664 IDH1 Ain Roesley Marked gene: IDH1 as ready
Genetic Epilepsy v0.2664 IDH1 Ain Roesley Gene: idh1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2664 IDH1 Ain Roesley gene: IDH1 was added
gene: IDH1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: IDH1 was set to Other
Phenotypes for gene: IDH1 were set to Ollier disease MONDO:0008145; Maffucci syndromeMONDO:0013808
Review for gene: IDH1 was set to RED
gene: IDH1 was marked as current diagnostic
Added comment: unable to find evidence of seizures/epilepsy for Ollier or Maffucci syndrome
Sources: Literature
Genetic Epilepsy v0.2663 FGFR1 Ain Roesley Marked gene: FGFR1 as ready
Genetic Epilepsy v0.2663 FGFR1 Ain Roesley Gene: fgfr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2663 FGFR1 Ain Roesley Classified gene: FGFR1 as Green List (high evidence)
Genetic Epilepsy v0.2663 FGFR1 Ain Roesley Gene: fgfr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2662 FGFR1 Ain Roesley gene: FGFR1 was added
gene: FGFR1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: FGFR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FGFR1 were set to 26937548; 31512363; 23812909; 26931467
Phenotypes for gene: FGFR1 were set to Hartsfield syndrome (MIM#615465)
Review for gene: FGFR1 was set to GREEN
gene: FGFR1 was marked as current diagnostic
Added comment: Seizures is part of the phenotypic spectrum of Hartsfield Syndrome

*rare reports of AR Hartsfield
Sources: Literature
Genetic Epilepsy v0.2661 CHRNA7 Ain Roesley Marked gene: CHRNA7 as ready
Genetic Epilepsy v0.2661 CHRNA7 Ain Roesley Gene: chrna7 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2661 CHRNA7 Ain Roesley gene: CHRNA7 was added
gene: CHRNA7 was added to Genetic Epilepsy. Sources: Literature
cnv tags were added to gene: CHRNA7.
Mode of inheritance for gene: CHRNA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHRNA7 were set to 20979196; 21596161; 21290787
Phenotypes for gene: CHRNA7 were set to intellectual disability; seizures; hypotonia
Review for gene: CHRNA7 was set to RED
gene: CHRNA7 was marked as current diagnostic
Added comment: Homozygous deletion of 15q13.3, which includes CHRNA7, causes ID, hypotonia, seizures, encephalopathy
Sources: Literature
Genetic Epilepsy v0.2660 MAST3 Sarah Leigh reviewed gene: MAST3: Rating: GREEN; Mode of pathogenicity: None; Publications: 35095415; Phenotypes: ; Mode of inheritance: None
Genetic Epilepsy v0.2660 PNPO Zornitza Stark Marked gene: PNPO as ready
Genetic Epilepsy v0.2660 PNPO Zornitza Stark Gene: pnpo has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2660 PNPO Zornitza Stark Phenotypes for gene: PNPO were changed from Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090 to Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090
Genetic Epilepsy v0.2659 PNPO Zornitza Stark Phenotypes for gene: PNPO were changed from to Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090
Genetic Epilepsy v0.2658 PNPO Zornitza Stark Publications for gene: PNPO were set to 34769443; 33981986; 33748042; 32888189
Genetic Epilepsy v0.2657 PNPO Zornitza Stark Publications for gene: PNPO were set to
Genetic Epilepsy v0.2656 PNPO Zornitza Stark Mode of inheritance for gene: PNPO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2655 PNKP Zornitza Stark Marked gene: PNKP as ready
Genetic Epilepsy v0.2655 PNKP Zornitza Stark Gene: pnkp has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2655 PNKP Zornitza Stark Phenotypes for gene: PNKP were changed from to Microcephaly, seizures, and developmental delay, MIM# 613402
Genetic Epilepsy v0.2654 PNKP Zornitza Stark Publications for gene: PNKP were set to
Genetic Epilepsy v0.2653 PNKP Zornitza Stark Mode of inheritance for gene: PNKP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2652 PMM2 Zornitza Stark Marked gene: PMM2 as ready
Genetic Epilepsy v0.2652 PMM2 Zornitza Stark Gene: pmm2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2652 PMM2 Zornitza Stark Phenotypes for gene: PMM2 were changed from to Congenital disorder of glycosylation, type Ia (MIM#212065); Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease (HIPKD), MONDO:0020642, PMM2-related
Genetic Epilepsy v0.2651 PMM2 Zornitza Stark Publications for gene: PMM2 were set to
Genetic Epilepsy v0.2650 PMM2 Zornitza Stark Mode of inheritance for gene: PMM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2649 PIK3R2 Zornitza Stark Marked gene: PIK3R2 as ready
Genetic Epilepsy v0.2649 PIK3R2 Zornitza Stark Gene: pik3r2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2649 PIK3R2 Zornitza Stark Phenotypes for gene: PIK3R2 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM# 603387
Genetic Epilepsy v0.2648 PIK3R2 Zornitza Stark Publications for gene: PIK3R2 were set to
Genetic Epilepsy v0.2647 PIK3R2 Zornitza Stark Mode of inheritance for gene: PIK3R2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2646 PIK3R2 Zornitza Stark changed review comment from: More than 10 affected individuals reported. Some variants are recurrent.; to: More than 10 affected individuals reported. Some variants are recurrent. Seizures are part of the phenotype.
Genetic Epilepsy v0.2646 PIGC Zornitza Stark Marked gene: PIGC as ready
Genetic Epilepsy v0.2646 PIGC Zornitza Stark Gene: pigc has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2646 PIGC Zornitza Stark Phenotypes for gene: PIGC were changed from Glycosylphosphatidylinositol biosynthesis defect 16, MIM# 617816 to Glycosylphosphatidylinositol biosynthesis defect 16, MIM# 617816
Genetic Epilepsy v0.2645 PIGC Zornitza Stark Phenotypes for gene: PIGC were changed from to Glycosylphosphatidylinositol biosynthesis defect 16, MIM# 617816
Genetic Epilepsy v0.2644 PIGC Zornitza Stark Publications for gene: PIGC were set to 27694521; 32707268
Genetic Epilepsy v0.2643 PIGC Zornitza Stark Publications for gene: PIGC were set to
Genetic Epilepsy v0.2642 PIGC Zornitza Stark Mode of inheritance for gene: PIGC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2641 PHGDH Zornitza Stark Marked gene: PHGDH as ready
Genetic Epilepsy v0.2641 PHGDH Zornitza Stark Gene: phgdh has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2641 PHGDH Zornitza Stark Phenotypes for gene: PHGDH were changed from to Neu-Laxova syndrome 1, MIM# 256520; Phosphoglycerate dehydrogenase deficiency, MIM# 601815
Genetic Epilepsy v0.2640 PHGDH Zornitza Stark Publications for gene: PHGDH were set to
Genetic Epilepsy v0.2639 PHGDH Zornitza Stark Mode of inheritance for gene: PHGDH was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2638 PHGDH Zornitza Stark Mode of inheritance for gene: PHGDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2637 PHGDH Zornitza Stark changed review comment from: Well established gene-disease association, severity depends on amount of residual enzyme activity.; to: Well established gene-disease association, severity depends on amount of residual enzyme activity, seizures are part of the phenotype.
Genetic Epilepsy v0.2637 PEX7 Zornitza Stark Phenotypes for gene: PEX7 were changed from Peroxisome biogenesis disorder 9B, MIM# 614879 to Peroxisome biogenesis disorder 9B, MIM# 614879
Genetic Epilepsy v0.2636 PEX7 Zornitza Stark Marked gene: PEX7 as ready
Genetic Epilepsy v0.2636 PEX7 Zornitza Stark Gene: pex7 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2636 PEX7 Zornitza Stark Phenotypes for gene: PEX7 were changed from Peroxisome biogenesis disorder 9B, MIM# 614879 to Peroxisome biogenesis disorder 9B, MIM# 614879
Genetic Epilepsy v0.2635 PEX7 Zornitza Stark Phenotypes for gene: PEX7 were changed from to Peroxisome biogenesis disorder 9B, MIM# 614879
Genetic Epilepsy v0.2634 PEX7 Zornitza Stark Publications for gene: PEX7 were set to
Genetic Epilepsy v0.2633 PEX7 Zornitza Stark Mode of inheritance for gene: PEX7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2632 PEX6 Zornitza Stark Marked gene: PEX6 as ready
Genetic Epilepsy v0.2632 PEX6 Zornitza Stark Gene: pex6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2632 PEX6 Zornitza Stark Phenotypes for gene: PEX6 were changed from to Peroxisome biogenesis disorder 4A (Zellweger), MIM# 614862
Genetic Epilepsy v0.2631 PEX6 Zornitza Stark Publications for gene: PEX6 were set to
Genetic Epilepsy v0.2630 PEX6 Zornitza Stark Mode of inheritance for gene: PEX6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2629 PEX5 Zornitza Stark Marked gene: PEX5 as ready
Genetic Epilepsy v0.2629 PEX5 Zornitza Stark Gene: pex5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2629 PEX5 Zornitza Stark Phenotypes for gene: PEX5 were changed from to Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110; Peroxisome biogenesis disorder 2B, MIM# 202370
Genetic Epilepsy v0.2628 PEX5 Zornitza Stark Publications for gene: PEX5 were set to
Genetic Epilepsy v0.2627 PEX5 Zornitza Stark Mode of inheritance for gene: PEX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2626 PEX3 Zornitza Stark Marked gene: PEX3 as ready
Genetic Epilepsy v0.2626 PEX3 Zornitza Stark Gene: pex3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2626 PEX3 Zornitza Stark Phenotypes for gene: PEX3 were changed from to Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882; Peroxisome biogenesis disorder 10B , MIM# 617370
Genetic Epilepsy v0.2625 PEX3 Zornitza Stark Publications for gene: PEX3 were set to
Genetic Epilepsy v0.2624 PEX3 Zornitza Stark Mode of inheritance for gene: PEX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2623 MOCS2 Zornitza Stark Marked gene: MOCS2 as ready
Genetic Epilepsy v0.2623 MOCS2 Zornitza Stark Gene: mocs2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2623 MOCS2 Zornitza Stark Phenotypes for gene: MOCS2 were changed from to Molybdenum cofactor deficiency B MIM#252160
Genetic Epilepsy v0.2622 SGCE Zornitza Stark Marked gene: SGCE as ready
Genetic Epilepsy v0.2622 SGCE Zornitza Stark Gene: sgce has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2622 SGCE Zornitza Stark Classified gene: SGCE as Green List (high evidence)
Genetic Epilepsy v0.2622 SGCE Zornitza Stark Gene: sgce has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2621 SGCE Zornitza Stark gene: SGCE was added
gene: SGCE was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SGCE was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: SGCE were set to 15389977; 12821748; 24297365
Phenotypes for gene: SGCE were set to Dystonia-11, myoclonic, MIM# 159900
Review for gene: SGCE was set to GREEN
Added comment: Occasional reports of epilepsy in this disorder; however, also included due to possible phenotypic overlap.
Sources: Expert list
Genetic Epilepsy v0.2620 SRD5A3 Zornitza Stark Marked gene: SRD5A3 as ready
Genetic Epilepsy v0.2620 SRD5A3 Zornitza Stark Gene: srd5a3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2620 SRD5A3 Zornitza Stark Classified gene: SRD5A3 as Amber List (moderate evidence)
Genetic Epilepsy v0.2620 SRD5A3 Zornitza Stark Gene: srd5a3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2619 SRD5A3 Zornitza Stark gene: SRD5A3 was added
gene: SRD5A3 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SRD5A3 were set to 26219881
Phenotypes for gene: SRD5A3 were set to Congenital disorder of glycosylation, type Iq, MIM# 612379
Review for gene: SRD5A3 was set to AMBER
Added comment: Many CDGs have epilepsy as a feature, and note brain abnormalities with this particular CDG,w which may be expected to contribute to the development of epilepsy. However, paucity of reports of patients with molecularly confirmed diagnosis and epilepsy.
Sources: Expert list
Genetic Epilepsy v0.2618 MAGI2 Zornitza Stark Marked gene: MAGI2 as ready
Genetic Epilepsy v0.2618 MAGI2 Zornitza Stark Gene: magi2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.2618 MAGI2 Zornitza Stark gene: MAGI2 was added
gene: MAGI2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: MAGI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAGI2 were set to 26030165; 25497044; 31056551
Phenotypes for gene: MAGI2 were set to Monogenic epilepsy, MONDO:0015653, MAGI2-related
Review for gene: MAGI2 was set to RED
Added comment: Reported as a candidate gene for epilepsy but evidence is contradictory.
Sources: Expert list
Genetic Epilepsy v0.2617 CACNB4 Zornitza Stark Marked gene: CACNB4 as ready
Genetic Epilepsy v0.2617 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2617 CACNB4 Zornitza Stark Classified gene: CACNB4 as Amber List (moderate evidence)
Genetic Epilepsy v0.2617 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2616 CACNB4 Zornitza Stark gene: CACNB4 was added
gene: CACNB4 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNB4 were set to 10762541; 35813387; 31056551; 22892567
Phenotypes for gene: CACNB4 were set to {Epilepsy, idiopathic generalized, susceptibility to, 9} 607682; {Epilepsy, juvenile myoclonic, susceptibility to, 6} 607682
Review for gene: CACNB4 was set to AMBER
Added comment: Good biological candidate but may be a susceptibility locus. Some of the variants reported have relatively high frequencies in gnomAD, and others are reported as part of large cohort studies with little supporting information regarding pathogenicity.
Sources: Expert list
Genetic Epilepsy v0.2615 GLUL Zornitza Stark Phenotypes for gene: GLUL were changed from Glutamine deficiency, congenital MIM#610015; Developmental and epileptic encephalopathy, MONDO:0100062, GLUL-related to Glutamine deficiency, congenital MIM#610015; Developmental and epileptic encephalopathy 116, MIM# 620806
Genetic Epilepsy v0.2614 GLUL Zornitza Stark edited their review of gene: GLUL: Changed phenotypes: Glutamine deficiency, congenital MIM#610015, Developmental and epileptic encephalopathy 116, MIM# 620806
Genetic Epilepsy v0.2614 MBOAT7 Zornitza Stark Mode of inheritance for gene: MBOAT7 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2613 MBOAT7 Zornitza Stark reviewed gene: MBOAT7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2613 NOTCH3 Ain Roesley Phenotypes for gene: NOTCH3 were changed from neurodevelopmental disorder MONDO:0700092, NOTCH3-related; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 - 125310 to neurodevelopmental disorder MONDO:0700092, NOTCH3-related; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 - 125310
Genetic Epilepsy v0.2612 NOTCH3 Ain Roesley Phenotypes for gene: NOTCH3 were changed from Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 - 125310 to neurodevelopmental disorder MONDO:0700092, NOTCH3-related; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 - 125310
Genetic Epilepsy v0.2612 NOTCH3 Ain Roesley Mode of inheritance for gene: NOTCH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2612 NOTCH3 Ain Roesley Classified gene: NOTCH3 as Green List (high evidence)
Genetic Epilepsy v0.2612 NOTCH3 Ain Roesley Gene: notch3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2611 NOTCH3 Ain Roesley reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: neurodevelopmental disorder MONDO:0700092, NOTCH3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Genetic Epilepsy v0.2611 OTUD7A Zornitza Stark Phenotypes for gene: OTUD7A were changed from Intellectual disability; Epilepsy to Neurodevelopmental disorder with hypotonia and seizures, MIM# 620790
Genetic Epilepsy v0.2610 OTUD7A Zornitza Stark edited their review of gene: OTUD7A: Changed phenotypes: Neurodevelopmental disorder with hypotonia and seizures, MIM# 620790
Genetic Epilepsy v0.2610 EFHC1 Zornitza Stark Tag disputed was removed from gene: EFHC1.
Tag refuted tag was added to gene: EFHC1.
Genetic Epilepsy v0.2610 SCN1A Zornitza Stark Publications for gene: SCN1A were set to 30368457; 12754708; 25754450; 32928894
Genetic Epilepsy v0.2609 SCN1A Zornitza Stark Publications for gene: SCN1A were set to
Genetic Epilepsy v0.2608 SCN1B Zornitza Stark Marked gene: SCN1B as ready
Genetic Epilepsy v0.2608 SCN1B Zornitza Stark Gene: scn1b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2608 SCN1B Zornitza Stark Phenotypes for gene: SCN1B were changed from Developmental and epileptic encephalopathy (MONDO:0100062); generalized epilepsy with febrile seizures plus (MONDO:0018214) to Developmental and epileptic encephalopathy (MONDO:0100062); generalized epilepsy with febrile seizures plus (MONDO:0018214)
Genetic Epilepsy v0.2607 SCN1B Zornitza Stark Phenotypes for gene: SCN1B were changed from to Developmental and epileptic encephalopathy (MONDO:0100062); generalized epilepsy with febrile seizures plus (MONDO:0018214)
Genetic Epilepsy v0.2606 SCN1B Zornitza Stark Publications for gene: SCN1B were set to
Genetic Epilepsy v0.2605 SCN1B Zornitza Stark Mode of inheritance for gene: SCN1B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.2604 SLC12A5 Zornitza Stark Marked gene: SLC12A5 as ready
Genetic Epilepsy v0.2604 SLC12A5 Zornitza Stark Gene: slc12a5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2604 SLC12A5 Zornitza Stark Phenotypes for gene: SLC12A5 were changed from Developmental and epileptic encephalopathy 34, MIM# 616645; {Epilepsy, idiopathic generalized, susceptibility to, 14}, MIM# 616685 to Developmental and epileptic encephalopathy 34, MIM# 616645; {Epilepsy, idiopathic generalized, susceptibility to, 14}, MIM# 616685
Genetic Epilepsy v0.2603 SLC12A5 Zornitza Stark Phenotypes for gene: SLC12A5 were changed from Developmental and epileptic encephalopathy 34, MIM# 616645; {Epilepsy, idiopathic generalized, susceptibility to, 14}, MIM# 616685 to Developmental and epileptic encephalopathy 34, MIM# 616645; {Epilepsy, idiopathic generalized, susceptibility to, 14}, MIM# 616685
Genetic Epilepsy v0.2602 SLC12A5 Zornitza Stark Phenotypes for gene: SLC12A5 were changed from to Developmental and epileptic encephalopathy 34, MIM# 616645; {Epilepsy, idiopathic generalized, susceptibility to, 14}, MIM# 616685
Genetic Epilepsy v0.2601 SLC12A5 Zornitza Stark Publications for gene: SLC12A5 were set to
Genetic Epilepsy v0.2600 SLC12A5 Zornitza Stark Mode of inheritance for gene: SLC12A5 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genetic Epilepsy v0.2599 SLC12A5 Sangavi Sivagnanasundram reviewed gene: SLC12A5: Rating: AMBER; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006147; Phenotypes: developmental and epileptic encephalopathy MONDO:0100062; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2599 SERPINI1 Sangavi Sivagnanasundram reviewed gene: SERPINI1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006114; Phenotypes: progressive myoclonus epilepsy MONDO:0020074; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2599 SCN1B Sangavi Sivagnanasundram reviewed gene: SCN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19710327, 28218389, 23148524; Phenotypes: Developmental and epileptic encephalopathy (MONDO:0100062), generalized epilepsy with febrile seizures plus (MONDO:0018214); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.2599 SCN1A Sangavi Sivagnanasundram reviewed gene: SCN1A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: generalized epilepsy with febrile seizures plus (MONDO:0018214), Dravet syndrome (MONDO:0100135), developmental and epileptic encephalopathy (MONDO:0100062), familial hemiplegic migraine (MONDO:0000700); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2599 RORB Sangavi Sivagnanasundram reviewed gene: RORB: Rating: ; Mode of pathogenicity: None; Publications: 27352968; Phenotypes: epilepsy MONDO:0005027; Mode of inheritance: None
Genetic Epilepsy v0.2599 NECAP1 Sangavi Sivagnanasundram reviewed gene: NECAP1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24399846, 30626896; Phenotypes: developmental and epileptic encephalopathy MONDO:0100062; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2599 KCNT1 Sangavi Sivagnanasundram reviewed gene: KCNT1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 23086397, 26725113; Phenotypes: childhood-onset epilepsy syndrome MONDO:0020072; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2599 EFHC1 Sangavi Sivagnanasundram reviewed gene: EFHC1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31056551, https://search.clinicalgenome.org/CCID:004730; Phenotypes: epilepsy MONDO:0005027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2599 CLCN2 Zornitza Stark Tag disputed was removed from gene: CLCN2.
Tag refuted tag was added to gene: CLCN2.
Genetic Epilepsy v0.2599 CLCN2 Sangavi Sivagnanasundram reviewed gene: CLCN2: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004463; Phenotypes: epilepsy (MONDO:0005027); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2599 IQSEC2 Ain Roesley Phenotypes for gene: IQSEC2 were changed from Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347 to Intellectual developmental disorder, X-linked 1 MIM#309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347
Genetic Epilepsy v0.2598 PEX19 Zornitza Stark Marked gene: PEX19 as ready
Genetic Epilepsy v0.2598 PEX19 Zornitza Stark Gene: pex19 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2598 PEX19 Zornitza Stark Phenotypes for gene: PEX19 were changed from to Peroxisome biogenesis disorder 12A (Zellweger) - MIM#614886
Genetic Epilepsy v0.2597 PEX19 Zornitza Stark Publications for gene: PEX19 were set to
Genetic Epilepsy v0.2596 PEX19 Zornitza Stark Mode of inheritance for gene: PEX19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2595 PEX19 Zornitza Stark reviewed gene: PEX19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 12A (Zellweger) - MIM#614886; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2595 PEX12 Zornitza Stark Marked gene: PEX12 as ready
Genetic Epilepsy v0.2595 PEX12 Zornitza Stark Gene: pex12 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2595 PEX12 Zornitza Stark Phenotypes for gene: PEX12 were changed from to Peroxisome biogenesis disorder 3A (Zellweger) - MIM#614859; Peroxisome biogenesis disorder 3B - MIM#266510
Genetic Epilepsy v0.2594 PEX12 Zornitza Stark Mode of inheritance for gene: PEX12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2593 PEX12 Zornitza Stark reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 3A (Zellweger) - MIM#614859, Peroxisome biogenesis disorder 3B - MIM#266510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2593 PEX1 Zornitza Stark Marked gene: PEX1 as ready
Genetic Epilepsy v0.2593 PEX1 Zornitza Stark Gene: pex1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2593 PEX1 Zornitza Stark Phenotypes for gene: PEX1 were changed from to Peroxisome biogenesis disorder 1A (Zellweger) 214100
Genetic Epilepsy v0.2592 PEX1 Zornitza Stark Publications for gene: PEX1 were set to
Genetic Epilepsy v0.2591 PEX1 Zornitza Stark Mode of inheritance for gene: PEX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2590 PEX1 Zornitza Stark reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 1A (Zellweger) 214100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2590 PDHX Zornitza Stark Marked gene: PDHX as ready
Genetic Epilepsy v0.2590 PDHX Zornitza Stark Gene: pdhx has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2590 PDHX Zornitza Stark Phenotypes for gene: PDHX were changed from to Lactic acidaemia due to PDX1 deficiency MIM#245349
Genetic Epilepsy v0.2589 PDHX Zornitza Stark Publications for gene: PDHX were set to
Genetic Epilepsy v0.2588 PDHX Zornitza Stark Mode of inheritance for gene: PDHX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2587 PDHX Zornitza Stark reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lactic acidaemia due to PDX1 deficiency MIM#245349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2587 PDHA1 Zornitza Stark Marked gene: PDHA1 as ready
Genetic Epilepsy v0.2587 PDHA1 Zornitza Stark Gene: pdha1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2587 PDHA1 Zornitza Stark Phenotypes for gene: PDHA1 were changed from to Pyruvate dehydrogenase E1-alpha deficiency - MIM#312170
Genetic Epilepsy v0.2586 PDHA1 Zornitza Stark Publications for gene: PDHA1 were set to
Genetic Epilepsy v0.2585 PDHA1 Zornitza Stark Mode of inheritance for gene: PDHA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.2584 PDHA1 Zornitza Stark reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency - MIM#312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.2584 PCDH12 Zornitza Stark Marked gene: PCDH12 as ready
Genetic Epilepsy v0.2584 PCDH12 Zornitza Stark Gene: pcdh12 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2584 PCDH12 Zornitza Stark Phenotypes for gene: PCDH12 were changed from to Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280
Genetic Epilepsy v0.2583 PCDH12 Zornitza Stark Publications for gene: PCDH12 were set to
Genetic Epilepsy v0.2582 PCDH12 Zornitza Stark Mode of inheritance for gene: PCDH12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2581 PCCB Zornitza Stark Marked gene: PCCB as ready
Genetic Epilepsy v0.2581 PCCB Zornitza Stark Gene: pccb has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2581 PCCB Zornitza Stark Phenotypes for gene: PCCB were changed from to Propionicacidemia - MIM#606054
Genetic Epilepsy v0.2580 PCCB Zornitza Stark Publications for gene: PCCB were set to
Genetic Epilepsy v0.2579 PCCB Zornitza Stark Mode of inheritance for gene: PCCB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2578 PCCB Zornitza Stark reviewed gene: PCCB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Propionicacidemia - MIM#606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2578 PCCA Zornitza Stark Marked gene: PCCA as ready
Genetic Epilepsy v0.2578 PCCA Zornitza Stark Gene: pcca has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2578 PCCA Zornitza Stark Phenotypes for gene: PCCA were changed from to Propionicacidemia - MIM#606054
Genetic Epilepsy v0.2577 PCCA Zornitza Stark Publications for gene: PCCA were set to
Genetic Epilepsy v0.2576 PCCA Zornitza Stark Mode of inheritance for gene: PCCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2575 PCCA Zornitza Stark reviewed gene: PCCA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Propionicacidemia - MIM#606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2575 OTUD6B Zornitza Stark Marked gene: OTUD6B as ready
Genetic Epilepsy v0.2575 OTUD6B Zornitza Stark Gene: otud6b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2575 OTUD6B Zornitza Stark Phenotypes for gene: OTUD6B were changed from to Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452
Genetic Epilepsy v0.2574 OTUD6B Zornitza Stark Publications for gene: OTUD6B were set to
Genetic Epilepsy v0.2573 OTUD6B Zornitza Stark Mode of inheritance for gene: OTUD6B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2572 OPHN1 Zornitza Stark Marked gene: OPHN1 as ready
Genetic Epilepsy v0.2572 OPHN1 Zornitza Stark Gene: ophn1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2572 OPHN1 Zornitza Stark Phenotypes for gene: OPHN1 were changed from to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, MIM#300486
Genetic Epilepsy v0.2571 OPHN1 Zornitza Stark Publications for gene: OPHN1 were set to
Genetic Epilepsy v0.2570 OPHN1 Zornitza Stark Mode of inheritance for gene: OPHN1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.2569 OPHN1 Zornitza Stark changed review comment from: OPHN1 variants cause cerebellar hypoplasia and distinctive facial appearance, macrocephaly is a feature. At least 8 families reported.; to: OPHN1 variants cause cerebellar hypoplasia and distinctive facial appearance, macrocephaly is a feature. At least 8 families reported.

Seizures are a feature.
Genetic Epilepsy v0.2569 OCLN Zornitza Stark Marked gene: OCLN as ready
Genetic Epilepsy v0.2569 OCLN Zornitza Stark Gene: ocln has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2569 OCLN Zornitza Stark Phenotypes for gene: OCLN were changed from to Pseudo-TORCH syndrome 1, MIM#251290
Genetic Epilepsy v0.2568 OCLN Zornitza Stark Publications for gene: OCLN were set to
Genetic Epilepsy v0.2567 OCLN Zornitza Stark Mode of inheritance for gene: OCLN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2566 NSD1 Zornitza Stark Marked gene: NSD1 as ready
Genetic Epilepsy v0.2566 NSD1 Zornitza Stark Gene: nsd1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2566 NSD1 Zornitza Stark Phenotypes for gene: NSD1 were changed from to Sotos syndrome 1 (MIM#117550), AD
Genetic Epilepsy v0.2565 NSD1 Zornitza Stark Publications for gene: NSD1 were set to
Genetic Epilepsy v0.2564 NSD1 Zornitza Stark Mode of inheritance for gene: NSD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2563 NSD1 Zornitza Stark reviewed gene: NSD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sotos syndrome 1 (MIM#117550), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2563 NGLY1 Zornitza Stark Marked gene: NGLY1 as ready
Genetic Epilepsy v0.2563 NGLY1 Zornitza Stark Gene: ngly1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2563 NGLY1 Zornitza Stark Phenotypes for gene: NGLY1 were changed from to Congenital disorder of deglycosylation, MIM# 615273
Genetic Epilepsy v0.2562 NGLY1 Zornitza Stark Publications for gene: NGLY1 were set to
Genetic Epilepsy v0.2561 NGLY1 Zornitza Stark Mode of inheritance for gene: NGLY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2560 NDUFV1 Zornitza Stark Marked gene: NDUFV1 as ready
Genetic Epilepsy v0.2560 NDUFV1 Zornitza Stark Gene: ndufv1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2560 NDUFV1 Zornitza Stark Phenotypes for gene: NDUFV1 were changed from to Mitochondrial complex I deficiency, nuclear type 4 MIM#618225
Genetic Epilepsy v0.2559 NDUFV1 Zornitza Stark Publications for gene: NDUFV1 were set to
Genetic Epilepsy v0.2558 NDUFV1 Zornitza Stark Mode of inheritance for gene: NDUFV1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2557 NDUFV1 Zornitza Stark reviewed gene: NDUFV1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 4 MIM#618225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2557 NDUFS8 Zornitza Stark Marked gene: NDUFS8 as ready
Genetic Epilepsy v0.2557 NDUFS8 Zornitza Stark Gene: ndufs8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2557 NDUFS8 Zornitza Stark Phenotypes for gene: NDUFS8 were changed from to Mitochondrial complex I deficiency, nuclear type 2 MIM#618222
Genetic Epilepsy v0.2556 NDUFS8 Zornitza Stark Publications for gene: NDUFS8 were set to
Genetic Epilepsy v0.2555 NDUFS8 Zornitza Stark Mode of inheritance for gene: NDUFS8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2554 NDUFS8 Zornitza Stark reviewed gene: NDUFS8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 2 MIM#618222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2554 NDUFS4 Zornitza Stark Marked gene: NDUFS4 as ready
Genetic Epilepsy v0.2554 NDUFS4 Zornitza Stark Gene: ndufs4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2554 NDUFS4 Zornitza Stark Phenotypes for gene: NDUFS4 were changed from to Mitochondrial complex I deficiency, nuclear type 1 - MIM#252010
Genetic Epilepsy v0.2553 NDUFS4 Zornitza Stark Publications for gene: NDUFS4 were set to
Genetic Epilepsy v0.2552 NDUFS4 Zornitza Stark Mode of inheritance for gene: NDUFS4 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2551 NDUFS4 Zornitza Stark Mode of inheritance for gene: NDUFS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2550 CAPRIN1 Zornitza Stark Phenotypes for gene: CAPRIN1 were changed from Neurodevelopmental disorder, CAPRIN1-related MONDO:0700092; Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636 to Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder, MIM# 620782; Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636
Genetic Epilepsy v0.2549 KDM5C Ain Roesley Phenotypes for gene: KDM5C were changed from Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534; MONDO:0010355 to Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534; MONDO:0010355
Genetic Epilepsy v0.2549 KDM5C Ain Roesley Phenotypes for gene: KDM5C were changed from Epilepsy; Intellectual Disability; microcephaly; Spasticity; hypothyroidism; Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534; MONDO:0010355 to Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534; MONDO:0010355
Genetic Epilepsy v0.2548 SNF8 Zornitza Stark Phenotypes for gene: SNF8 were changed from Developmental and epileptic encephalopathy 115, MIM#620783 to Developmental and epileptic encephalopathy 115, MIM#620783
Genetic Epilepsy v0.2547 SNF8 Zornitza Stark Phenotypes for gene: SNF8 were changed from Neurodevelopmental disorder (MONDO:0700092), SNF8-related to Developmental and epileptic encephalopathy 115, MIM#620783
Genetic Epilepsy v0.2546 SNF8 Zornitza Stark Classified gene: SNF8 as Green List (high evidence)
Genetic Epilepsy v0.2546 SNF8 Zornitza Stark Gene: snf8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2545 SNF8 Zornitza Stark reviewed gene: SNF8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 115, MIM#620783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2545 PURA Ain Roesley Phenotypes for gene: PURA were changed from Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158) to Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158)
Genetic Epilepsy v0.2545 PURA Ain Roesley Phenotypes for gene: PURA were changed from Mental retardation, autosomal dominant 31, MIM# 616158 to Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158)
Genetic Epilepsy v0.2544 GLUL Zornitza Stark Phenotypes for gene: GLUL were changed from Glutamine deficiency, congenital MIM#610015 to Glutamine deficiency, congenital MIM#610015; Developmental and epileptic encephalopathy, MONDO:0100062, GLUL-related
Genetic Epilepsy v0.2543 GLUL Zornitza Stark Mode of inheritance for gene: GLUL was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.2542 GLUL Zornitza Stark edited their review of gene: GLUL: Added comment: Nine individuals with de novo variants in this gene and DEE. Seven out of nine were start-loss variants and two out of nine disrupted 5′ UTR splicing resulting in splice exclusion of the initiation codon.; Changed phenotypes: Glutamine deficiency, congenital MIM#610015, Developmental and epileptic encephalopathy, MONDO:0100062, GLUL-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.2542 ZFHX3 Bryony Thompson Marked gene: ZFHX3 as ready
Genetic Epilepsy v0.2542 ZFHX3 Bryony Thompson Gene: zfhx3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2542 ZFHX3 Bryony Thompson Classified gene: ZFHX3 as Green List (high evidence)
Genetic Epilepsy v0.2542 ZFHX3 Bryony Thompson Gene: zfhx3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2541 ZFHX3 Bryony Thompson gene: ZFHX3 was added
gene: ZFHX3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ZFHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZFHX3 were set to 38508705
Phenotypes for gene: ZFHX3 were set to developmental and epileptic encephalopathy MONDO:0100062
Review for gene: ZFHX3 was set to GREEN
gene: ZFHX3 was marked as current diagnostic
Added comment: 8 unrelated probands with biallelic variants and a phenotype consistent with DEE and childhood partial epilepsy. Also a supporting Drosophila Zfh2 knockdown model with seizure-like behaviour.
Sources: Literature
Genetic Epilepsy v0.2540 KCNB2 Zornitza Stark Marked gene: KCNB2 as ready
Genetic Epilepsy v0.2540 KCNB2 Zornitza Stark Gene: kcnb2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2540 KCNB2 Zornitza Stark Classified gene: KCNB2 as Amber List (moderate evidence)
Genetic Epilepsy v0.2540 KCNB2 Zornitza Stark Gene: kcnb2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2539 KCNB2 Zornitza Stark gene: KCNB2 was added
gene: KCNB2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KCNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNB2 were set to 38503299
Phenotypes for gene: KCNB2 were set to neurodevelopmental disorder MONDO:0700092, KCNB2-related
Review for gene: KCNB2 was set to AMBER
Added comment: 7 individuals, all missense
5 de novo + 1x inherited from father who has hypotonia + 1x from asymptomatic father

2/5 MRI anomalies
2/5 cardiac anomalies
2/7 urogenital anomalies
7/7 with ID
2/7 epilepsy
2/7 hypotonia
Sources: Literature
Genetic Epilepsy v0.2538 SLC32A1 Zornitza Stark Phenotypes for gene: SLC32A1 were changed from Generalized epilepsy with febrile seizures plus, type 12, MIM# 620755 to Generalized epilepsy with febrile seizures plus, type 12, MIM# 620755; Developmental and epileptic encephalopathy 114, MIM# 620774
Genetic Epilepsy v0.2537 SLC32A1 Zornitza Stark edited their review of gene: SLC32A1: Changed phenotypes: Generalized epilepsy with febrile seizures plus, type 12, MIM# 620755, Developmental and epileptic encephalopathy 114, MIM# 620774
Genetic Epilepsy v0.2537 CRELD1 Zornitza Stark Phenotypes for gene: CRELD1 were changed from Developmental and epileptic encephalopathy, MONDO:0100062, CRELD1-related to Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771
Genetic Epilepsy v0.2536 CRELD1 Zornitza Stark edited their review of gene: CRELD1: Changed phenotypes: Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771
Genetic Epilepsy v0.2536 NDUFAF5 Zornitza Stark Marked gene: NDUFAF5 as ready
Genetic Epilepsy v0.2536 NDUFAF5 Zornitza Stark Gene: ndufaf5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2536 NDUFAF5 Zornitza Stark Phenotypes for gene: NDUFAF5 were changed from to Mitochondrial complex I deficiency, nuclear type 3 MIM#618224
Genetic Epilepsy v0.2535 NDUFAF5 Zornitza Stark Publications for gene: NDUFAF5 were set to
Genetic Epilepsy v0.2534 NDUFAF5 Zornitza Stark Mode of inheritance for gene: NDUFAF5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2533 NDUFAF5 Zornitza Stark reviewed gene: NDUFAF5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3 MIM#618224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2533 NDUFA1 Zornitza Stark Marked gene: NDUFA1 as ready
Genetic Epilepsy v0.2533 NDUFA1 Zornitza Stark Gene: ndufa1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2533 NDUFA1 Zornitza Stark Phenotypes for gene: NDUFA1 were changed from to Mitochondrial complex I deficiency, nuclear type 12 MIM#301020
Genetic Epilepsy v0.2532 NDUFA1 Zornitza Stark Publications for gene: NDUFA1 were set to
Genetic Epilepsy v0.2531 NDUFA1 Zornitza Stark Mode of inheritance for gene: NDUFA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.2530 NDUFA1 Zornitza Stark reviewed gene: NDUFA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 12 MIM#301020; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.2530 NDE1 Zornitza Stark Marked gene: NDE1 as ready
Genetic Epilepsy v0.2530 NDE1 Zornitza Stark Gene: nde1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2530 NDE1 Zornitza Stark Phenotypes for gene: NDE1 were changed from to Microhydranencephaly 605013; Lissencephaly 4 (with microcephaly) 614019
Genetic Epilepsy v0.2529 NDE1 Zornitza Stark Publications for gene: NDE1 were set to
Genetic Epilepsy v0.2528 NDE1 Zornitza Stark Mode of inheritance for gene: NDE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2527 NAGA Zornitza Stark Marked gene: NAGA as ready
Genetic Epilepsy v0.2527 NAGA Zornitza Stark Gene: naga has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2527 NAGA Zornitza Stark Phenotypes for gene: NAGA were changed from to Schindler disease, type I and type II 609241
Genetic Epilepsy v0.2526 NAGA Zornitza Stark Publications for gene: NAGA were set to
Genetic Epilepsy v0.2525 NAGA Zornitza Stark Mode of inheritance for gene: NAGA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2524 NAGA Zornitza Stark Classified gene: NAGA as Amber List (moderate evidence)
Genetic Epilepsy v0.2524 NAGA Zornitza Stark Gene: naga has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2523 NAGA Zornitza Stark edited their review of gene: NAGA: Changed rating: AMBER
Genetic Epilepsy v0.2523 MTOR Zornitza Stark Marked gene: MTOR as ready
Genetic Epilepsy v0.2523 MTOR Zornitza Stark Gene: mtor has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2523 MTOR Zornitza Stark Phenotypes for gene: MTOR were changed from to Smith-Kingsmore syndrome, MIM# 616638; Focal cortical dysplasia, type II, somatic, MIM# 607341; Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283
Genetic Epilepsy v0.2522 MTOR Zornitza Stark Mode of pathogenicity for gene: MTOR was changed from to Other
Genetic Epilepsy v0.2521 MTOR Zornitza Stark Publications for gene: MTOR were set to
Genetic Epilepsy v0.2520 MTOR Zornitza Stark Mode of inheritance for gene: MTOR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2519 MTHFR Zornitza Stark Marked gene: MTHFR as ready
Genetic Epilepsy v0.2519 MTHFR Zornitza Stark Gene: mthfr has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2519 MTHFR Zornitza Stark Phenotypes for gene: MTHFR were changed from Homocystinuria due to MTHFR deficiency MIM#236250 to Homocystinuria due to MTHFR deficiency MIM#236250
Genetic Epilepsy v0.2518 MTHFR Zornitza Stark Phenotypes for gene: MTHFR were changed from to Homocystinuria due to MTHFR deficiency MIM#236250
Genetic Epilepsy v0.2517 MTHFR Zornitza Stark Publications for gene: MTHFR were set to
Genetic Epilepsy v0.2516 MTHFR Zornitza Stark Mode of inheritance for gene: MTHFR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2515 MTHFR Zornitza Stark reviewed gene: MTHFR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Homocystinuria due to MTHFR deficiency MIM#236250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2515 MOCS2 Zornitza Stark Mode of inheritance for gene: MOCS2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2514 MOCS2 Zornitza Stark Mode of inheritance for gene: MOCS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2513 MOCS2 Zornitza Stark reviewed gene: MOCS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Molybdenum cofactor deficiency B MIM#252160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2513 MMADHC Zornitza Stark Marked gene: MMADHC as ready
Genetic Epilepsy v0.2513 MMADHC Zornitza Stark Gene: mmadhc has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2513 MMADHC Zornitza Stark Phenotypes for gene: MMADHC were changed from to Homocystinuria, cblD type, variant 1 MIM#277410; Methylmalonic aciduria and homocystinuria, cblD type MIM#277410; Methylmalonic aciduria, cblD type, variant 2 MIM#277410
Genetic Epilepsy v0.2513 MMADHC Zornitza Stark Publications for gene: MMADHC were set to
Genetic Epilepsy v0.2512 MMADHC Zornitza Stark Mode of inheritance for gene: MMADHC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2511 MMACHC Zornitza Stark Marked gene: MMACHC as ready
Genetic Epilepsy v0.2511 MMACHC Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2511 MMACHC Zornitza Stark Phenotypes for gene: MMACHC were changed from to Methylmalonic aciduria and homocystinuria, cblC type MIM#277400
Genetic Epilepsy v0.2510 MMACHC Zornitza Stark Publications for gene: MMACHC were set to
Genetic Epilepsy v0.2509 MMACHC Zornitza Stark Mode of inheritance for gene: MMACHC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2508 MLC1 Zornitza Stark Marked gene: MLC1 as ready
Genetic Epilepsy v0.2508 MLC1 Zornitza Stark Gene: mlc1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2508 MLC1 Zornitza Stark Phenotypes for gene: MLC1 were changed from to Megalencephalic leukoencephalopathy with subcortical cysts (MIM#604004)
Genetic Epilepsy v0.2507 MLC1 Zornitza Stark Publications for gene: MLC1 were set to
Genetic Epilepsy v0.2506 MLC1 Zornitza Stark Mode of inheritance for gene: MLC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2505 MFF Zornitza Stark Marked gene: MFF as ready
Genetic Epilepsy v0.2505 MFF Zornitza Stark Gene: mff has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2505 MFF Zornitza Stark Phenotypes for gene: MFF were changed from to Encephalopathy due to defective mitochondrial and peroxisomal fission 2, MIM# 617086
Genetic Epilepsy v0.2504 MFF Zornitza Stark Publications for gene: MFF were set to
Genetic Epilepsy v0.2503 MFF Zornitza Stark Mode of inheritance for gene: MFF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2502 SV2A Zornitza Stark Phenotypes for gene: SV2A were changed from Neurodevelopmental disorder, MONDO:0700092, SV2A-related; Developmental and epileptic encephalopathy 113, MIM# 620772 to Neurodevelopmental disorder, MONDO:0700092, SV2A-related; Developmental and epileptic encephalopathy 113, MIM# 620772
Genetic Epilepsy v0.2501 SV2A Zornitza Stark Phenotypes for gene: SV2A were changed from Neurodevelopmental disorder, MONDO:0700092, SV2A-related to Neurodevelopmental disorder, MONDO:0700092, SV2A-related; Developmental and epileptic encephalopathy 113, MIM# 620772
Genetic Epilepsy v0.2500 SV2A Zornitza Stark reviewed gene: SV2A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 113, MIM# 620772; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2500 MED12 Zornitza Stark Marked gene: MED12 as ready
Genetic Epilepsy v0.2500 MED12 Zornitza Stark Gene: med12 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2500 MED12 Zornitza Stark Mode of inheritance for gene: MED12 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)
Genetic Epilepsy v0.2499 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from to Ohdo syndrome, X-linked MIM#300895; Lujan-Fryns syndrome MIM#309520; Opitz-Kaveggia syndrome MIM#305450
Genetic Epilepsy v0.2498 MED12 Zornitza Stark Publications for gene: MED12 were set to 33244166; 32174975; 30006928; 27312080; 33244166
Genetic Epilepsy v0.2497 MED12 Zornitza Stark Publications for gene: MED12 were set to
Genetic Epilepsy v0.2497 MED12 Zornitza Stark Mode of inheritance for gene: MED12 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.2496 MECP2 Zornitza Stark Marked gene: MECP2 as ready
Genetic Epilepsy v0.2496 MECP2 Zornitza Stark Gene: mecp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2496 MECP2 Zornitza Stark Phenotypes for gene: MECP2 were changed from to Rett syndrome, MIM# 312750; Intellectual developmental disorder, X-linked, syndromic 13, MIM# 300055; Encephalopathy, neonatal severe, MIM# 300673
Genetic Epilepsy v0.2495 MECP2 Zornitza Stark Publications for gene: MECP2 were set to
Genetic Epilepsy v0.2494 MECP2 Zornitza Stark Mode of inheritance for gene: MECP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.2493 MBOAT7 Zornitza Stark Marked gene: MBOAT7 as ready
Genetic Epilepsy v0.2493 MBOAT7 Zornitza Stark Gene: mboat7 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2493 MBOAT7 Zornitza Stark Phenotypes for gene: MBOAT7 were changed from to intellectual disability MIM#617188
Genetic Epilepsy v0.2492 MBOAT7 Zornitza Stark Publications for gene: MBOAT7 were set to
Genetic Epilepsy v0.2491 MBOAT7 Zornitza Stark Mode of inheritance for gene: MBOAT7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2490 KCNJ11 Zornitza Stark Marked gene: KCNJ11 as ready
Genetic Epilepsy v0.2490 KCNJ11 Zornitza Stark Gene: kcnj11 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2490 KCNJ11 Zornitza Stark Phenotypes for gene: KCNJ11 were changed from to Diabetes mellitus, transient neonatal, 3 610582; Diabetes, permanent neonatal, with or without neurologic features 606176; Hyperinsulinemic hypoglycemia, familial, 2 601820
Genetic Epilepsy v0.2489 KCNJ11 Zornitza Stark Publications for gene: KCNJ11 were set to
Genetic Epilepsy v0.2488 KCNJ11 Zornitza Stark Mode of inheritance for gene: KCNJ11 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.2487 DYNC1H1 Zornitza Stark Marked gene: DYNC1H1 as ready
Genetic Epilepsy v0.2487 DYNC1H1 Zornitza Stark Gene: dync1h1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2487 DYNC1H1 Zornitza Stark Phenotypes for gene: DYNC1H1 were changed from to Cortical dysplasia, complex, with other brain malformations 13, MIM# 614563
Genetic Epilepsy v0.2486 DYNC1H1 Zornitza Stark Publications for gene: DYNC1H1 were set to
Genetic Epilepsy v0.2485 DYNC1H1 Zornitza Stark Mode of inheritance for gene: DYNC1H1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2484 DYNC1H1 Zornitza Stark edited their review of gene: DYNC1H1: Changed phenotypes: Cortical dysplasia, complex, with other brain malformations 13, MIM# 614563
Genetic Epilepsy v0.2484 MAP2K2 Zornitza Stark Marked gene: MAP2K2 as ready
Genetic Epilepsy v0.2484 MAP2K2 Zornitza Stark Gene: map2k2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2484 MAP2K2 Zornitza Stark Phenotypes for gene: MAP2K2 were changed from to Cardiofaciocutaneous syndrome 4, MIM# 615280
Genetic Epilepsy v0.2483 MAP2K2 Zornitza Stark Publications for gene: MAP2K2 were set to
Genetic Epilepsy v0.2482 MAP2K2 Zornitza Stark Mode of pathogenicity for gene: MAP2K2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Genetic Epilepsy v0.2481 MAP2K2 Zornitza Stark Mode of inheritance for gene: MAP2K2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2480 MAP2K1 Zornitza Stark Marked gene: MAP2K1 as ready
Genetic Epilepsy v0.2480 MAP2K1 Zornitza Stark Gene: map2k1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2480 MAP2K1 Zornitza Stark Phenotypes for gene: MAP2K1 were changed from to Cardiofaciocutaneous syndrome 3, MIM# 615279
Genetic Epilepsy v0.2479 MAP2K1 Zornitza Stark Publications for gene: MAP2K1 were set to
Genetic Epilepsy v0.2478 MAP2K1 Zornitza Stark Mode of pathogenicity for gene: MAP2K1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Genetic Epilepsy v0.2477 MAP2K1 Zornitza Stark Mode of inheritance for gene: MAP2K1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2476 MAF Zornitza Stark Marked gene: MAF as ready
Genetic Epilepsy v0.2476 MAF Zornitza Stark Gene: maf has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2476 MAF Zornitza Stark Phenotypes for gene: MAF were changed from to Ayme-Gripp syndrome (MIM#601088)
Genetic Epilepsy v0.2475 MAF Zornitza Stark Publications for gene: MAF were set to
Genetic Epilepsy v0.2474 MAF Zornitza Stark Mode of inheritance for gene: MAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2473 KIF1A Zornitza Stark Marked gene: KIF1A as ready
Genetic Epilepsy v0.2473 KIF1A Zornitza Stark Gene: kif1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2473 KIF1A Zornitza Stark Phenotypes for gene: KIF1A were changed from to NESCAV syndrome, MIM# 614255
Genetic Epilepsy v0.2472 KIF1A Zornitza Stark Publications for gene: KIF1A were set to
Genetic Epilepsy v0.2471 KIF1A Zornitza Stark Mode of inheritance for gene: KIF1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2470 KIF1A Zornitza Stark changed review comment from: HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs. At least 4 families reported, although 3 shared same founder variant.

De novo variants in this gene are also more commonly associated with spastic paraplegia, and a complex neurodevelopmental disorder, NESCAV syndrome.; to: De novo variants in this gene are also more commonly associated with spastic paraplegia, and a complex neurodevelopmental disorder, NESCAV syndrome, which can include seizures.
Genetic Epilepsy v0.2470 KIF1A Zornitza Stark edited their review of gene: KIF1A: Changed phenotypes: NESCAV syndrome, MIM# 614255; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.2470 KIAA1109 Zornitza Stark Marked gene: KIAA1109 as ready
Genetic Epilepsy v0.2470 KIAA1109 Zornitza Stark Gene: kiaa1109 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2470 KIAA1109 Zornitza Stark Phenotypes for gene: KIAA1109 were changed from to lkuraya-Kucinskas syndrome, MIM# 617822
Genetic Epilepsy v0.2469 KIAA1109 Zornitza Stark Publications for gene: KIAA1109 were set to
Genetic Epilepsy v0.2468 KIAA1109 Zornitza Stark Mode of inheritance for gene: KIAA1109 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2467 KCTD7 Zornitza Stark Marked gene: KCTD7 as ready
Genetic Epilepsy v0.2467 KCTD7 Zornitza Stark Gene: kctd7 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2467 KCTD7 Zornitza Stark Phenotypes for gene: KCTD7 were changed from to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726), AR
Genetic Epilepsy v0.2466 KCTD7 Zornitza Stark Publications for gene: KCTD7 were set to
Genetic Epilepsy v0.2465 KCTD7 Zornitza Stark Mode of inheritance for gene: KCTD7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2464 ITPA Zornitza Stark Marked gene: ITPA as ready
Genetic Epilepsy v0.2464 ITPA Zornitza Stark Gene: itpa has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2464 ITPA Zornitza Stark Phenotypes for gene: ITPA were changed from to Developmental and epileptic encephalopathy 35, MIM# 616647
Genetic Epilepsy v0.2463 ITPA Zornitza Stark Publications for gene: ITPA were set to
Genetic Epilepsy v0.2462 ITPA Zornitza Stark Mode of inheritance for gene: ITPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.2461 IKBKG Zornitza Stark Marked gene: IKBKG as ready
Genetic Epilepsy v0.2461 IKBKG Zornitza Stark Gene: ikbkg has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2461 IKBKG Zornitza Stark Phenotypes for gene: IKBKG were changed from to Incontinentia pigmenti, MIM# 308300
Genetic Epilepsy v0.2460 IKBKG Zornitza Stark Publications for gene: IKBKG were set to
Genetic Epilepsy v0.2459 IKBKG Zornitza Stark Mode of inheritance for gene: IKBKG was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.2458 IKBKG Zornitza Stark changed review comment from: X-linked systemic autoinflammatory disease (SAIDX) is characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy. Laboratory studies show hypogammaglobulinemia, increased or decreased white blood cell count, autoimmune cytopenias, elevated serum inflammatory markers, and a type I interferon signature. 6 unrelated boys and a girl reported. All variants resulted in absence of the domain encoded by exon 5 (NEMOdelEx5).

Note variants in this gene are associated with immunodeficiency +/- ectodermal features and with IP.; to: X-linked systemic autoinflammatory disease (SAIDX) is characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy. Laboratory studies show hypogammaglobulinemia, increased or decreased white blood cell count, autoimmune cytopenias, elevated serum inflammatory markers, and a type I interferon signature. 6 unrelated boys and a girl reported. All variants resulted in absence of the domain encoded by exon 5 (NEMOdelEx5).

Note variants in this gene are associated with immunodeficiency +/- ectodermal features and with IP.

Seizures reported in the IP phenotype.
Genetic Epilepsy v0.2458 IFIH1 Zornitza Stark Marked gene: IFIH1 as ready
Genetic Epilepsy v0.2458 IFIH1 Zornitza Stark Gene: ifih1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.2458 IFIH1 Zornitza Stark Phenotypes for gene: IFIH1 were changed from to Aicardi-Goutieres syndrome 7, MIM#615846