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Early onset or syndromic epilepsy v2.408 SLC16A2 Arina Puzriakova Phenotypes for gene: SLC16A2 were changed from Allan-Herndon-Dudley syndrome, 300523; AHDS to Allan-Herndon-Dudley syndrome, OMIM:300523
Early onset or syndromic epilepsy v1.296 SLC16A2 Rebecca Foulger Marked gene: SLC16A2 as ready
Early onset or syndromic epilepsy v1.296 SLC16A2 Rebecca Foulger Gene: slc16a2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.296 SLC16A2 Rebecca Foulger Added comment: Comment on mode of inheritance: Updated Mode of Inheritance from XLR to XLD based on post-Webex review by Helen Lord.
Early onset or syndromic epilepsy v1.296 SLC16A2 Rebecca Foulger Mode of inheritance for gene: SLC16A2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females 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 v1.295 SLC16A2 Rebecca Foulger Phenotypes for gene: SLC16A2 were changed from Allan-Herndon-Dudley syndrome, 300523 to Allan-Herndon-Dudley syndrome, 300523; AHDS
Early onset or syndromic epilepsy v1.294 SLC16A2 Rebecca Foulger Publications for gene: SLC16A2 were set to 27212794; 15980113
Early onset or syndromic epilepsy v1.293 SLC16A2 Rebecca Foulger Phenotypes for gene: SLC16A2 were changed from Allan-Herndon-Dudley syndrome to Allan-Herndon-Dudley syndrome, 300523
Early onset or syndromic epilepsy v1.292 SLC16A2 Rebecca Foulger Publications for gene: SLC16A2 were set to Maranduba et al (2006) J Med Genet 43: 457_460
Early onset or syndromic epilepsy v1.262 SLC16A2 Rebecca Foulger commented on gene: SLC16A2: 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 SLC16A2 Helen Lord reviewed gene: SLC16A2: 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 v1.210 SLC16A2 Rebecca Foulger Added comment: Comment on mode of inheritance: MOI is recorded as hemizygous in Gene2Phenotype and XL in OMIM. XLR inheritance was confirmed with reviewer, as stated by Ellen McDonagh.
Early onset or syndromic epilepsy v1.210 SLC16A2 Rebecca Foulger Mode of inheritance for gene: SLC16A2 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 SLC16A2 Rebecca Foulger Source Wessex and West Midlands GLH was added to SLC16A2.
Early onset or syndromic epilepsy v1.190 SLC16A2 Rebecca Foulger Source NHS GMS was added to SLC16A2.
Early onset or syndromic epilepsy v1.189 SLC16A2 Rebecca Foulger reviewed gene: SLC16A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 SLC16A2 Tracy Lester reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27212794; Phenotypes: Allan-Herndon-Dudley syndrome, 300523; 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 SLC16A2 Sarah Leigh Added gene to panel