Activity
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9 actions
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| Early onset or syndromic epilepsy v1.191 | SLC9A6 | Rebecca Foulger Source Wessex and West Midlands GLH was added to SLC9A6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.190 | SLC9A6 | Rebecca Foulger Source NHS GMS was added to SLC9A6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.189 | SLC9A6 | Rebecca Foulger edited their review of gene: SLC9A6: 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 | SLC9A6 | Tracy Lester reviewed gene: SLC9A6: Rating: GREEN; Mode of pathogenicity: ; Publications: 20395263, 24123876 ; Phenotypes: Mental retardation, X-linked syndromic, Christianson type, 300243; 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 v1.169 | SLC9A6 | Rebecca Foulger Phenotypes for gene: SLC9A6 were changed from Mental retardation, X-linked syndromic, Christianson type to Mental retardation, X-linked syndromic, Christianson type, 300243 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.168 | SLC9A6 | Rebecca Foulger Added comment: Comment on mode of inheritance: Comment on mode of inheritance: Changed the MOI from XLR to XLD based on Pescosolido et al., 2014 (PMID:25044251) who report some symptoms (mild to moderate ID) in heterozygous female carriers. Note that NHE6 is an alias for SLC9A6. Although Gene2Phenotype list a hemizygous inheritance for 'MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE' OMIM record an XLD inheritance for MIM:300243. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.168 | SLC9A6 | Rebecca Foulger Mode of inheritance for gene: SLC9A6 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 v1.166 | SLC9A6 | Rebecca Foulger Publications for gene: SLC9A6 were set to Gilfillan et al (2008) Am J Hum Genet 82: 1003_1010 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy | SLC9A6 | Sarah Leigh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||