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Early onset or syndromic epilepsy v1.467 NSDHL Rebecca Foulger Added comment: Comment on mode of inheritance: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call 22nd November 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that MOI should remain as XLR.
Early onset or syndromic epilepsy v1.467 NSDHL Rebecca Foulger Mode of inheritance for gene: NSDHL was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v1.191 NSDHL Rebecca Foulger Source Wessex and West Midlands GLH was added to NSDHL.
Early onset or syndromic epilepsy v1.190 NSDHL Rebecca Foulger Source NHS GMS was added to NSDHL.
Early onset or syndromic epilepsy v1.189 NSDHL Rebecca Foulger reviewed gene: NSDHL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 NSDHL Tracy Lester reviewed gene: NSDHL: Rating: GREEN; Mode of pathogenicity: ; Publications: 21129721; Phenotypes: CHILD syndrome, 308050, CK syndrome, 300831; 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 v0.842 NSDHL Eleanor Williams Marked gene: NSDHL as ready
Early onset or syndromic epilepsy v0.842 NSDHL Eleanor Williams Added comment: Comment when marking as ready: 3 cases/variants in unrelated families where male show seizures. One SNV is missense but it segregates with the disease in the family, is predicted to affect protein function and is not found in dbSNP.
Early onset or syndromic epilepsy v0.842 NSDHL Eleanor Williams Gene: nsdhl has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.842 NSDHL Eleanor Williams Phenotypes for gene: NSDHL were changed from to CK syndrome 300831
Early onset or syndromic epilepsy v0.841 NSDHL Eleanor Williams Mode of inheritance for gene: NSDHL was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v0.840 NSDHL Eleanor Williams Publications for gene: NSDHL were set to
Early onset or syndromic epilepsy v0.839 NSDHL Eleanor Williams Classified gene: NSDHL as Green List (high evidence)
Early onset or syndromic epilepsy v0.839 NSDHL Eleanor Williams Added comment: Comment on list classification: 3 cases reported of variants in this gene in males with CK syndrome.
Early onset or syndromic epilepsy v0.839 NSDHL Eleanor Williams Gene: nsdhl has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.838 NSDHL Eleanor Williams commented on gene: NSDHL
Early onset or syndromic epilepsy NSDHL Zornitza Stark reviewed gene: NSDHL
Early onset or syndromic epilepsy NSDHL Sarah Leigh Added gene to panel