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| DDG2P v3.65 | CACNB4 | Achchuthan Shanmugasundram Phenotypes for gene: CACNB4 were changed from JUVENILE MYOCLONIC EPILEPSY, OMIM:611136 to JUVENILE MYOCLONIC EPILEPSY, OMIM:611136 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.65 | CACNB4 | Achchuthan Shanmugasundram Phenotypes for gene: CACNB4 were changed from JUVENILE MYOCLONIC EPILEPSY, OMIM:611136 to JUVENILE MYOCLONIC EPILEPSY, OMIM:611136 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.65 | CACNB4 | Achchuthan Shanmugasundram Phenotypes for gene: CACNB4 were changed from JUVENILE MYOCLONIC EPILEPSY, OMIM:611136 to JUVENILE MYOCLONIC EPILEPSY, OMIM:611136 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.65 | CACNB4 | Achchuthan Shanmugasundram Phenotypes for gene: CACNB4 were changed from JUVENILE MYOCLONIC EPILEPSY, OMIM:611136 to JUVENILE MYOCLONIC EPILEPSY, OMIM:611136 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.65 | CACNB4 | Achchuthan Shanmugasundram Phenotypes for gene: CACNB4 were changed from JUVENILE MYOCLONIC EPILEPSY 611136; CACNB4-RELATED JUVENILE MYOCLONIC EPILEPSY 311100; EPISODIC ATAXIA TYPE 5 318989; CACNB4-RELATED EPISODIC ATAXIA TYPE 2 279386 to JUVENILE MYOCLONIC EPILEPSY, OMIM:611136 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TBC1D24 | Achchuthan Shanmugasundram reviewed gene: TBC1D24: Rating: GREEN; Mode of pathogenicity: ; Publications: 20727515, 20797691, 10741954, 24291220; Phenotypes: MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL, OMIM:605021, DOORS SYNDROME, OMIM:220500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC6A1 | Achchuthan Shanmugasundram reviewed gene: SLC6A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31176687, 34006619, 25865495, 29961511, 29315614, 27600546, 30132828, 31516630; Phenotypes: EPILEPSY WITH MYOCLONIC-ATONIC SEIZURES; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYOCD | Achchuthan Shanmugasundram reviewed gene: MYOCD: Rating: GREEN; Mode of pathogenicity: ; Publications: 31513549; Phenotypes: Congenital megabladder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYOC | Achchuthan Shanmugasundram reviewed gene: MYOC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: PRIMARY CONGENITAL GLAUCOMA TYPE 3A, OMIM:231300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIF5A | Achchuthan Shanmugasundram reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 27463701, 27414745; Phenotypes: KIF5A-associated severe neonatal myoclonus, OMIM:617235; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCTD7 | Achchuthan Shanmugasundram reviewed gene: KCTD7: Rating: GREEN; Mode of pathogenicity: ; Publications: 22693283, 17455289, 22748208; Phenotypes: PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3, OMIM:611726, NEURONAL CEROID LIPOFUSCINOSIS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNC1 | Achchuthan Shanmugasundram reviewed gene: KCNC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25401298; Phenotypes: EPILEPSY, PROGRESSIVE MYOCLONIC 7, OMIM:616187; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GABRA1 | Achchuthan Shanmugasundram reviewed gene: GABRA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11992121, 23934111; Phenotypes: EPILEPTIC ENCEPHALOPATHY, JUVENILE MYOCLONIC EPILEPSY, OMIM:611136; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CACNB4 | Achchuthan Shanmugasundram reviewed gene: CACNB4: Rating: RED; Mode of pathogenicity: ; Publications: 10762541; Phenotypes: JUVENILE MYOCLONIC EPILEPSY, OMIM:611136; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASAH1 | Achchuthan Shanmugasundram reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22703880, 8955159, 11241842, 10610716, 16951918; Phenotypes: SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY, OMIM:159950, FARBER LIPOGRANULOMATOSIS, OMIM:228000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MYOCD |
Achchuthan Shanmugasundram Source Expert Review Green was added to MYOCD. Mode of inheritance for gene MYOCD was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KIF5A |
Achchuthan Shanmugasundram gene: KIF5A was added gene: KIF5A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIF5A were set to 27463701; 27414745 Phenotypes for gene: KIF5A were set to KIF5A-associated severe neonatal myoclonus, OMIM:617235 |
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| DDG2P v1.130 | MYOCD | Rebecca Foulger reviewed gene: MYOCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.129 | MYOCD |
Rebecca Foulger gene: MYOCD was added gene: MYOCD was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MYOCD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYOCD were set to 31513549 Phenotypes for gene: MYOCD were set to Congenital megabladder |
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| DDG2P v0.95 | CACNB4 | Rebecca Foulger commented on gene: CACNB4: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for JUVENILE MYOCLONIC EPILEPSY. CACNB4 also rated 'possible' for CACNB4-RELATED EPISODIC ATAXIA TYPE 2;CACNB4-RELATED JUVENILE MYOCLONIC EPILEPSY;EPISODIC ATAXIA TYPE 5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MYOC | Rebecca Foulger reviewed gene: MYOC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TBC1D24 |
Rebecca Foulger Added phenotypes MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL 605021 for gene: TBC1D24 Publications for gene TBC1D24 were changed from to 20727515; 10741954; 20797691 |
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| DDG2P v0.1 | SLC6A1 |
Rebecca Foulger gene: SLC6A1 was added gene: SLC6A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC6A1 were set to 25865495 Phenotypes for gene: SLC6A1 were set to EPILEPSY WITH MYOCLONIC-ATONIC SEIZURES |
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| DDG2P v0.1 | MYOC |
Rebecca Foulger gene: MYOC was added gene: MYOC was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MYOC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYOC were set to PRIMARY CONGENITAL GLAUCOMA TYPE 3A 231300 |
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| DDG2P v0.1 | KCTD7 |
Rebecca Foulger Added phenotypes PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3 611726 for gene: KCTD7 Publications for gene KCTD7 were changed from to 17455289; 22693283; 22748208 |
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| DDG2P v0.1 | KCNC1 |
Rebecca Foulger gene: KCNC1 was added gene: KCNC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNC1 were set to 25401298 Phenotypes for gene: KCNC1 were set to EPILEPSY, PROGRESSIVE MYOCLONIC 7 616187 Mode of pathogenicity for gene: KCNC1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GABRA1 |
Rebecca Foulger gene: GABRA1 was added gene: GABRA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GABRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GABRA1 were set to 11992121 Phenotypes for gene: GABRA1 were set to JUVENILE MYOCLONIC EPILEPSY 611136 |
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| DDG2P v0.1 | CACNB4 | Rebecca Foulger Added phenotypes CACNB4-RELATED JUVENILE MYOCLONIC EPILEPSY 311100 for gene: CACNB4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CACNB4 |
Rebecca Foulger gene: CACNB4 was added gene: CACNB4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CACNB4 were set to JUVENILE MYOCLONIC EPILEPSY 611136 |
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| DDG2P v0.1 | ASAH1 |
Rebecca Foulger Added phenotypes SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY 159950 for gene: ASAH1 Publications for gene ASAH1 were changed from 10610716; 16951918; 11241842; 8955159 to 22703880 |
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