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Early onset or syndromic epilepsy v3.10 DNM1 Sarah Leigh Publications for gene: DNM1 were set to 25262651; 27066543; 33372033; 34172529
Early onset or syndromic epilepsy v2.543 DNM1 Arina Puzriakova Tag watchlist was removed from gene: DNM1.
Tag watchlist_moi tag was added to gene: DNM1.
Early onset or syndromic epilepsy v2.543 DNM1 Arina Puzriakova changed review comment from: Comment on list classification: Currently, there is only enough evidence for an Amber rating for the biallelic form and so I have kept the MOI as just 'Monoallelic' at this time. If this is a genuine association, biallelic cases would still be picked by the Genomics England pipeline under this MOI. Added watchlist tag in anticipation of further biallelic cases emerging.; to: Comment on list classification: Currently, there is only enough evidence for an Amber rating for the biallelic form and so I have kept the MOI as just 'Monoallelic' at this time. Added watchlist tag in anticipation of further biallelic cases emerging.
Early onset or syndromic epilepsy v2.387 DNM1 Arina Puzriakova Publications for gene: DNM1 were set to EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11; 25262651; 27066543
Early onset or syndromic epilepsy v2.386 DNM1 Arina Puzriakova Tag watchlist tag was added to gene: DNM1.
Early onset or syndromic epilepsy v2.386 DNM1 Arina Puzriakova Classified gene: DNM1 as Green List (high evidence)
Early onset or syndromic epilepsy v2.386 DNM1 Arina Puzriakova Added comment: Comment on list classification: Currently, there is only enough evidence for an Amber rating for the biallelic form and so I have kept the MOI as just 'Monoallelic' at this time. If this is a genuine association, biallelic cases would still be picked by the Genomics England pipeline under this MOI. Added watchlist tag in anticipation of further biallelic cases emerging.
Early onset or syndromic epilepsy v2.386 DNM1 Arina Puzriakova Gene: dnm1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v2.385 DNM1 Arina Puzriakova reviewed gene: DNM1: Rating: AMBER; Mode of pathogenicity: None; Publications: 34172529; Phenotypes: Developmental and epileptic encephalopathy 31, OMIM:616346; Mode of inheritance: None
Early onset or syndromic epilepsy v2.385 DNM1 Arina Puzriakova Phenotypes for gene: DNM1 were changed from Epileptic encephalopathy, early infantile, 31, 616346 to Developmental and epileptic encephalopathy 31, OMIM:616346
Early onset or syndromic epilepsy v1.485 DNM1 Rebecca Foulger Mode of inheritance for gene: DNM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v1.484 DNM1 Rebecca Foulger Publications for gene: DNM1 were set to EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11
Early onset or syndromic epilepsy v1.483 DNM1 Rebecca Foulger Phenotypes for gene: DNM1 were changed from to Epileptic encephalopathy, early infantile, 31, 616346
Early onset or syndromic epilepsy v1.191 DNM1L Rebecca Foulger Source Wessex and West Midlands GLH was added to DNM1L.
Early onset or syndromic epilepsy v1.191 DNM1 Rebecca Foulger Source Wessex and West Midlands GLH was added to DNM1.
Early onset or syndromic epilepsy v1.190 DNM1L Rebecca Foulger Source NHS GMS was added to DNM1L.
Early onset or syndromic epilepsy v1.190 DNM1 Rebecca Foulger Source NHS GMS was added to DNM1.
Early onset or syndromic epilepsy v1.189 DNM1L Rebecca Foulger edited their review of gene: DNM1L: Added comment: Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 DNM1 Rebecca Foulger reviewed gene: DNM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 DNM1L Tracy Lester reviewed gene: DNM1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 26604000, 27145208 ; Phenotypes: Encephalopathy lethal due to defective mitochondrial peroxisomal fission, 614388, Optic atrophy, 610708; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 DNM1 Tracy Lester reviewed gene: DNM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25262651, 27066543 ; Phenotypes: Epileptic encephalopathy, early infantile, 31,616346; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.1321 DNM1L Rebecca Foulger Mode of inheritance for gene: DNM1L was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1087 DNM1L Rebecca Foulger Marked gene: DNM1L as ready
Early onset or syndromic epilepsy v0.1087 DNM1L Rebecca Foulger Gene: dnm1l has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1087 DNM1L Rebecca Foulger Classified gene: DNM1L as Green List (high evidence)
Early onset or syndromic epilepsy v0.1087 DNM1L Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Green rating by Zornitza. At least 3 cases in the literature of unrelated patients with DNM1L variants and seizures (1 in PMID:26604000 and 2 in PMID:27145208).
Early onset or syndromic epilepsy v0.1087 DNM1L Rebecca Foulger Gene: dnm1l has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1086 DNM1L Rebecca Foulger Phenotypes for gene: DNM1L were changed from Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388; refractory epilepsy; refractory focal status epilepticus
Early onset or syndromic epilepsy v0.1085 DNM1L Rebecca Foulger commented on gene: DNM1L
Early onset or syndromic epilepsy v0.1085 DNM1L Rebecca Foulger Publications for gene: DNM1L were set to 26604000
Early onset or syndromic epilepsy v0.1083 DNM1L Rebecca Foulger Publications for gene: DNM1L were set to
Early onset or syndromic epilepsy v0.1082 DNM1L Rebecca Foulger Mode of inheritance for gene: DNM1L was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1081 DNM1L Rebecca Foulger Phenotypes for gene: DNM1L were changed from to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388
Early onset or syndromic epilepsy DNM1L Zornitza Stark reviewed gene: DNM1L
Early onset or syndromic epilepsy DNM1 Sarah Leigh Added gene to panel