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Early onset or syndromic epilepsy v1.191 LARGE1 Rebecca Foulger Source Wessex and West Midlands GLH was added to LARGE1.
Early onset or syndromic epilepsy v1.190 LARGE1 Rebecca Foulger Source NHS GMS was added to LARGE1.
Early onset or syndromic epilepsy v1.189 LARGE1 Rebecca Foulger reviewed gene: LARGE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 LARGE1 Tracy Lester reviewed gene: LARGE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 613154, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation) type B, 608840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1296 LARGE1 Ivone Leong Marked gene: LARGE1 as ready
Early onset or syndromic epilepsy v0.1296 LARGE1 Ivone Leong Added comment: Comment when marking as ready: Seizures are more common features of other dystroglycanopathies, therefore LARGE1 will remain an amber gene as there is not enough evidence to promote it to a green gene currently. I have added the 'watchlist' tag.
Early onset or syndromic epilepsy v0.1296 LARGE1 Ivone Leong Gene: large1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1296 LARGE1 Ivone Leong Tag watchlist tag was added to gene: LARGE1.
Early onset or syndromic epilepsy v0.1023 LARGE1 Ivone Leong Marked gene: LARGE1 as ready
Early onset or syndromic epilepsy v0.1023 LARGE1 Ivone Leong Gene: large1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1023 LARGE1 Ivone Leong Classified gene: LARGE1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.1023 LARGE1 Ivone Leong Added comment: Comment on list classification: Phenotype confirmed by both OMIM and Gene2Phenotype. However, there is only one reported case of a patient with mutations in LARGE1 who also have seizures (PMID: 24709677). Therefore not enough evidence to promote to green status.
Early onset or syndromic epilepsy v0.1023 LARGE1 Ivone Leong Gene: large1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1022 LARGE1 Ivone Leong Publications for gene: LARGE1 were set to
Early onset or syndromic epilepsy v0.1005 LARGE1 Ivone Leong Mode of inheritance for gene: LARGE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1004 LARGE1 Ivone Leong Phenotypes for gene: LARGE1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840
Early onset or syndromic epilepsy LARGE1 Zornitza Stark reviewed gene: LARGE1
Early onset or syndromic epilepsy LARGE1 Sarah Leigh Added gene to panel