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Early onset or syndromic epilepsy v1.191 MAP2K2 Rebecca Foulger Source Wessex and West Midlands GLH was added to MAP2K2.
Early onset or syndromic epilepsy v1.190 MAP2K2 Rebecca Foulger Source NHS GMS was added to MAP2K2.
Early onset or syndromic epilepsy v1.189 MAP2K2 Rebecca Foulger reviewed gene: MAP2K2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 MAP2K2 Tracy Lester reviewed gene: MAP2K2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiofaciocutaneous syndrome, 615280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.1428 MAP2K2 Sarah Leigh Mode of inheritance for gene: MAP2K2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.1098 MAP2K2 Ivone Leong Marked gene: MAP2K2 as ready
Early onset or syndromic epilepsy v0.1098 MAP2K2 Ivone Leong Gene: map2k2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1098 MAP2K2 Ivone Leong Classified gene: MAP2K2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1098 MAP2K2 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. MAP2K2 is confirmed to be associated with Cardiofaciocutaneous syndrome 4 in both OMIM and Gene2Phenotype. Only Gene2Phenotype lists seizures as a phenotype.
There are three reported cases (PMID: 29799162, 24719372, 27799067)
of unrelated probands with different variants (2 missense and one deletion) who have seizures. It should be noted that not all patients with a MAP2K2 variant experience seizures.
Early onset or syndromic epilepsy v0.1098 MAP2K2 Ivone Leong Gene: map2k2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1097 MAP2K2 Ivone Leong Publications for gene: MAP2K2 were set to 29799162; 2471937; 27799067
Early onset or syndromic epilepsy v0.1096 MAP2K2 Ivone Leong Publications for gene: MAP2K2 were set to
Early onset or syndromic epilepsy v0.1092 MAP2K2 Ivone Leong Phenotypes for gene: MAP2K2 were changed from to Cardiofaciocutaneous syndrome 4, 615280
Early onset or syndromic epilepsy MAP2K2 Zornitza Stark reviewed gene: MAP2K2
Early onset or syndromic epilepsy MAP2K2 Sarah Leigh Added gene to panel