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Early onset or syndromic epilepsy v4.12 CLCN4 Arina Puzriakova Phenotypes for gene: CLCN4 were changed from Raynaud-Claes syndrome 300114; Mental retardation, X-linked 49/15 to Raynaud-Claes syndrome, OMIM:300114
Early onset or syndromic epilepsy v1.191 CLCN4 Rebecca Foulger Source Wessex and West Midlands GLH was added to CLCN4.
Early onset or syndromic epilepsy v1.190 CLCN4 Rebecca Foulger Source NHS GMS was added to CLCN4.
Early onset or syndromic epilepsy v1.189 CLCN4 Rebecca Foulger edited their review of gene: CLCN4: 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 CLCN4 Tracy Lester reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: ; Publications: 27550844; Phenotypes: Raynaud-Claes syndrome, 300114; 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 v1.148 CLCN4 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from XLR to XLD to match XLD MOI for 'Raynaud-Claes syndrome' (MIM:300114) in OMIM.
Early onset or syndromic epilepsy v1.148 CLCN4 Rebecca Foulger Mode of inheritance for gene: CLCN4 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 v0.772 CLCN4 Sarah Leigh Marked gene: CLCN4 as ready
Early onset or syndromic epilepsy v0.772 CLCN4 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene for INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY. At least 2 variants reported in 3 unrelated cases in whom seizures are included in their phenotypic features. Supportive functional studies are also reported (PMID 27550844).
Early onset or syndromic epilepsy v0.772 CLCN4 Sarah Leigh Gene: clcn4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.772 CLCN4 Sarah Leigh Mode of inheritance for gene: CLCN4 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v0.771 CLCN4 Sarah Leigh Publications for gene: CLCN4 were set to
Early onset or syndromic epilepsy v0.770 CLCN4 Sarah Leigh Phenotypes for gene: CLCN4 were changed from to Raynaud-Claes syndrome 300114; Mental retardation, X-linked 49/15
Early onset or syndromic epilepsy v0.769 CLCN4 Sarah Leigh Classified gene: CLCN4 as Green List (high evidence)
Early onset or syndromic epilepsy v0.769 CLCN4 Sarah Leigh Gene: clcn4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy CLCN4 Zornitza Stark reviewed gene: CLCN4
Early onset or syndromic epilepsy CLCN4 Sarah Leigh Added gene to panel