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Early onset or syndromic epilepsy v1.299 SLC35A2 Rebecca Foulger Marked gene: SLC35A2 as ready
Early onset or syndromic epilepsy v1.299 SLC35A2 Rebecca Foulger Gene: slc35a2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.299 SLC35A2 Rebecca Foulger Added comment: Comment on mode of inheritance: Kept Mode of Inheritance as XLD based on post-Webex review by Helen Lord.
Early onset or syndromic epilepsy v1.299 SLC35A2 Rebecca Foulger Mode of inheritance for gene: SLC35A2 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 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 v1.298 SLC35A2 Rebecca Foulger Publications for gene: SLC35A2 were set to 24115232; 27743886; 30746764; 30584598; 29679388
Early onset or syndromic epilepsy v1.262 SLC35A2 Rebecca Foulger commented on gene: SLC35A2: Mode of inheritance collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset where the mode of inheritance was re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy. No rating was included in the review, so I have uploaded a Green rating to match the original West Midlands, Oxford and Wessex GLH rating.
Early onset or syndromic epilepsy v1.261 SLC35A2 Helen Lord reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; 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 v1.202 SLC35A2 Rebecca Foulger Added comment: Comment on mode of inheritance: MOI in OMIM for SLC35A2 is listed as X-linked dominant.
Early onset or syndromic epilepsy v1.202 SLC35A2 Rebecca Foulger Mode of inheritance for gene: SLC35A2 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 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 v1.191 SLC35A2 Rebecca Foulger Source Wessex and West Midlands GLH was added to SLC35A2.
Early onset or syndromic epilepsy v1.190 SLC35A2 Rebecca Foulger Source NHS GMS was added to SLC35A2.
Early onset or syndromic epilepsy v1.189 SLC35A2 Rebecca Foulger edited their review of gene: SLC35A2: Added comment: Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 SLC35A2 Tracy Lester reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23561849, 24115232 ; Phenotypes: Congenital disorder of glycosylation, type Iim, 300896; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v1.62 SLC35A2 Eleanor Williams Phenotypes for gene: SLC35A2 were changed from Congenital disorder of glycosylation, type IIm, 300896 (includes Epileptic encephalopathy); Epileptic encephalopathy, early infantile, 22 (EIEE22); early-onset epileptic encephalopathy to Congenital disorder of glycosylation, type IIm, 300896 (includes Epileptic encephalopathy); Epileptic encephalopathy, early infantile, 22 (EIEE22); early-onset epileptic encephalopathy; epilepsy
Early onset or syndromic epilepsy v1.61 SLC35A2 Eleanor Williams Publications for gene: SLC35A2 were set to 24115232; 27743886
Early onset or syndromic epilepsy v1.21 SLC35A2 Deb Pal reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30746764, 30584598, 29679388, 27743886, 24115232; Phenotypes: epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Early onset or syndromic epilepsy SLC35A2 Sarah Leigh Added gene to panel