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
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)
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
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.
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)