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Early onset or syndromic epilepsy v1.417 MTR Rebecca Foulger commented on gene: MTR: PMID:9683607 (Wilson et al., 1998) report 3 cblG patients, including 2 siblings who presented with neonatal seizures.
Early onset or syndromic epilepsy v1.417 MTR Rebecca Foulger commented on gene: MTR: PMID:25526710 (Huemer et al., 2015) summarise clinical features of 13 patients with the cblG defect (caused by defects in MTR): 5/13 had seizures.
Early onset or syndromic epilepsy v1.191 CBL Rebecca Foulger Source Wessex and West Midlands GLH was added to CBL.
Early onset or syndromic epilepsy v1.190 CBL Rebecca Foulger Source NHS GMS was added to CBL.
Early onset or syndromic epilepsy v1.189 CBL Rebecca Foulger reviewed gene: CBL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 CBL Tracy Lester reviewed gene: CBL: Rating: AMBER; Mode of pathogenicity: ; Publications: 7603564; Phenotypes: ?Juvenile myelomonocytic leukemia, 607785, Somatic mutation, Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 MTR Tracy Lester reviewed gene: MTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 MMADHC Tracy Lester reviewed gene: MMADHC: Rating: GREEN; Mode of pathogenicity: ; Publications: 18385497; Phenotypes: Homocystinuria, cblD type, variant 1 277410, Methylmalonic aciduria and homocystinuria, cblD type, 277410, Methylmalonic aciduria, cblD type, variant 2, 277410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 MMACHC Tracy Lester reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: ; Publications: 26283149, 29068997 , 16311595, 21748408; Phenotypes: Methylmalonic aciduria and homocystinuria, cblC type, 277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 HCFC1 Tracy Lester reviewed gene: HCFC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24011988, 26893841; Phenotypes: Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v0.1350 MTR Louise Daugherty Phenotypes for gene: MTR were changed from Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; seizures to Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; methionine synthase deficiency type cblG; seizures
Early onset or syndromic epilepsy v0.1349 MTR Louise Daugherty Phenotypes for gene: MTR were changed from to Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; seizures
Early onset or syndromic epilepsy v0.1311 MMADHC Rebecca Foulger Phenotypes for gene: MMADHC were changed from to Methylmalonic aciduria and homocystinuria, cblD type, 277410
Early onset or syndromic epilepsy v0.1308 MMACHC Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Green review by Zornitza plus sufficient (>3) cases of cblC disease patients with MMACHC variants and seizures from PMIDs 17431913 and 20924684).
Early onset or syndromic epilepsy v0.1307 MMACHC Rebecca Foulger commented on gene: MMACHC: PMID:20924684 (Wang et al, 2010) report 43 patients with combined methylmalonic acidemia and hyperhomocysteinemia (cblC type), 50% of which presented with seizures. Homozygous MMACHC variants are listed in Table 4.
Early onset or syndromic epilepsy v0.1291 MMACHC Rebecca Foulger Phenotypes for gene: MMACHC were changed from to Methylmalonic aciduria and homocystinuria, cblC type, 277400
Early onset or syndromic epilepsy v0.848 HCFC1 Ivone Leong Phenotypes for gene: HCFC1 were changed from Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type), 309541
Early onset or syndromic epilepsy v0.847 HCFC1 Ivone Leong Phenotypes for gene: HCFC1 were changed from Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541
Early onset or syndromic epilepsy v0.846 HCFC1 Ivone Leong Phenotypes for gene: HCFC1 were changed from to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )
Early onset or syndromic epilepsy v0.505 CBL Sarah Leigh commented on gene: CBL
Early onset or syndromic epilepsy v0.470 CBL Sarah Leigh Marked gene: CBL as ready
Early onset or syndromic epilepsy v0.470 CBL Sarah Leigh Gene: cbl has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy CBL Sarah Leigh Added gene to panel