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Early onset or syndromic epilepsy v1.336 SLC25A12 Rebecca Foulger Publications for gene: SLC25A12 were set to 24515575; 19641205; 27290639; 26633542
Early onset or syndromic epilepsy v1.267 SLC25A12 Rebecca Foulger Marked gene: SLC25A12 as ready
Early onset or syndromic epilepsy v1.267 SLC25A12 Rebecca Foulger Gene: slc25a12 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.267 SLC25A12 Rebecca Foulger commented on gene: SLC25A12: Kept rating as Green based on post-Webex reviews from Helen Lord and Alison Callaway.
Early onset or syndromic epilepsy v1.267 SLC25A12 Rebecca Foulger Publications for gene: SLC25A12 were set to 24515575; 19641205; 27290639
Early onset or syndromic epilepsy v1.262 SLC25A12 Rebecca Foulger commented on gene: SLC25A12: Review and rating 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 that were re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.
Early onset or syndromic epilepsy v1.261 SLC25A12 Helen Lord reviewed gene: SLC25A12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.256 SLC25A12 Alison Callaway reviewed gene: SLC25A12: Rating: GREEN; Mode of pathogenicity: None; Publications: 19641205, 24515575, 27290639, 26633542; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.191 SLC25A12 Rebecca Foulger Source Wessex and West Midlands GLH was added to SLC25A12.
Early onset or syndromic epilepsy v1.190 SLC25A12 Rebecca Foulger Source NHS GMS was added to SLC25A12.
Early onset or syndromic epilepsy v1.189 SLC25A12 Rebecca Foulger edited their review of gene: SLC25A12: 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: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 SLC25A12 Tracy Lester reviewed gene: SLC25A12: Rating: AMBER; Mode of pathogenicity: ; Publications: 24515575, 19641205 ; Phenotypes: Epileptic encephalopathy early infantile 39, 612949; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.178 SLC25A12 Rebecca Foulger commented on gene: SLC25A12
Early onset or syndromic epilepsy v0.1336 SLC25A12 Sarah Leigh Marked gene: SLC25A12 as ready
Early onset or syndromic epilepsy v0.1336 SLC25A12 Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least three homozygous variants identified in unrelated cases in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.1336 SLC25A12 Sarah Leigh Gene: slc25a12 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1336 SLC25A12 Sarah Leigh Classified gene: SLC25A12 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1336 SLC25A12 Sarah Leigh Gene: slc25a12 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1335 SLC25A12 Sarah Leigh Added comment: Comment on publications: Homozygous missense variants: c.1058G>A; p.Arg353Gln, segregated with disease in this kindred in a child with epilepsy (PMID 24515575);
c.1769A>G, p.Gln590Arg in a 3 year old girl (PMID: 19641205); de novo in an infant c.1335C>A, p.Asn445Lys (PMID 27290639).
Early onset or syndromic epilepsy v0.1335 SLC25A12 Sarah Leigh Publications for gene: SLC25A12 were set to 24515575; 19641205; 27290639
Early onset or syndromic epilepsy v0.1334 SLC25A12 Sarah Leigh Publications for gene: SLC25A12 were set to
Early onset or syndromic epilepsy v0.1333 SLC25A12 Sarah Leigh Phenotypes for gene: SLC25A12 were changed from to Epileptic encephalopathy, early infantile, 39 612949
Early onset or syndromic epilepsy v0.1332 SLC25A12 Sarah Leigh Mode of inheritance for gene: SLC25A12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy SLC25A12 Zornitza Stark reviewed gene: SLC25A12
Early onset or syndromic epilepsy SLC25A12 Sarah Leigh Added gene to panel