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Early onset or syndromic epilepsy v1.191 HCCS Rebecca Foulger Source Wessex and West Midlands GLH was added to HCCS.
Early onset or syndromic epilepsy v1.190 HCCS Rebecca Foulger Source NHS GMS was added to HCCS.
Early onset or syndromic epilepsy v1.189 HCCS Rebecca Foulger reviewed gene: HCCS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 HCCS Tracy Lester reviewed gene: HCCS: Rating: RED; Mode of pathogenicity: ; Publications: 17033964; Phenotypes: Linear skin defects with multiple congenital anomalies, 309801; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v0.1294 HCCS Ivone Leong Marked gene: HCCS as ready
Early onset or syndromic epilepsy v0.1294 HCCS Ivone Leong Added comment: Comment when marking as ready: Despite seizures being listed as a common feature in GeneReviews, there is only 1 reported case of epilepsy with with HCCS gene. Therefore, it will remain as an amber gene. I have added the 'watchlist' tag.
Early onset or syndromic epilepsy v0.1294 HCCS Ivone Leong Gene: hccs has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1294 HCCS Ivone Leong Tag watchlist tag was added to gene: HCCS.
Early onset or syndromic epilepsy v0.852 HCCS Ivone Leong Marked gene: HCCS as ready
Early onset or syndromic epilepsy v0.852 HCCS Ivone Leong Added comment: Comment when marking as ready: 'Linear skin defects with multiple congenital anomalies 1' confirmed in both OMIM and Gene2Phenotype. However, seizures is not a common feature. Only found one patient with who had a seizure (17033964).
Early onset or syndromic epilepsy v0.852 HCCS Ivone Leong Gene: hccs has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.852 HCCS Ivone Leong Publications for gene: HCCS were set to
Early onset or syndromic epilepsy v0.829 HCCS Ivone Leong Mode of inheritance for gene: HCCS was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v0.827 HCCS Ivone Leong Phenotypes for gene: HCCS were changed from to Linear skin defects with multiple congenital anomalies 1, 309801
Early onset or syndromic epilepsy HCCS Zornitza Stark reviewed gene: HCCS
Early onset or syndromic epilepsy HCCS Sarah Leigh Added gene to panel