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Early onset or syndromic epilepsy v1.191 ISPD Rebecca Foulger Source Wessex and West Midlands GLH was added to ISPD.
Early onset or syndromic epilepsy v1.190 ISPD Rebecca Foulger Source NHS GMS was added to ISPD.
Early onset or syndromic epilepsy v1.189 ISPD Rebecca Foulger reviewed gene: ISPD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 ISPD Tracy Lester reviewed gene: ISPD: Rating: AMBER; Mode of pathogenicity: ; Publications: 15937479, 26195193 ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 7 614643, Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 7 616052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.13 ISPD Louise Daugherty commented on gene: ISPD
Early onset or syndromic epilepsy v1.13 ISPD Louise Daugherty Tag new-gene-name tag was added to gene: ISPD.
Early onset or syndromic epilepsy v0.1296 ISPD Ivone Leong Marked gene: ISPD as ready
Early onset or syndromic epilepsy v0.1296 ISPD Ivone Leong Added comment: Comment when marking as ready: Seizures are more common features of other dystroglycanopathies, therefore ISPD 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 ISPD Ivone Leong Gene: ispd has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1296 ISPD Ivone Leong Tag watchlist tag was added to gene: ISPD.
Early onset or syndromic epilepsy v0.929 ISPD Ivone Leong Marked gene: ISPD as ready
Early onset or syndromic epilepsy v0.929 ISPD Ivone Leong Added comment: Comment when marking as ready: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 confirmed on OMIM but listed as Walker-Warburg syndrome, which comes under Muscular dystrophy-dystroglycanopathy, on Gene2Phenotype. Only one report of a patient with a large deletion in the ISPD gene having seizures (24120487).
Early onset or syndromic epilepsy v0.929 ISPD Ivone Leong Gene: ispd has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.929 ISPD Ivone Leong Publications for gene: ISPD were set to
Early onset or syndromic epilepsy v0.928 ISPD Ivone Leong Phenotypes for gene: ISPD were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643; Walker-Warburg syndrome
Early onset or syndromic epilepsy v0.927 ISPD Ivone Leong Mode of inheritance for gene: ISPD was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.926 ISPD Ivone Leong Phenotypes for gene: ISPD were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643
Early onset or syndromic epilepsy ISPD Zornitza Stark reviewed gene: ISPD
Early onset or syndromic epilepsy ISPD Sarah Leigh Added gene to panel