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Early onset or syndromic epilepsy v2.381 ARHGEF9 Arina Puzriakova Phenotypes for gene: ARHGEF9 were changed from Epileptic encephalopathy, early infantile, 8 300607 to Developmental and epileptic encephalopathy 8, OMIM:300607
Early onset or syndromic epilepsy v1.270 ARHGEF9 Rebecca Foulger Marked gene: ARHGEF9 as ready
Early onset or syndromic epilepsy v1.270 ARHGEF9 Rebecca Foulger Gene: arhgef9 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.270 ARHGEF9 Rebecca Foulger Publications for gene: ARHGEF9 were set to 21633362; 15215304
Early onset or syndromic epilepsy v1.269 ARHGEF9 Rebecca Foulger Publications for gene: ARHGEF9 were set to
Early onset or syndromic epilepsy v1.268 ARHGEF9 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 v1.268 ARHGEF9 Rebecca Foulger Mode of inheritance for gene: ARHGEF9 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 v1.262 ARHGEF9 Rebecca Foulger commented on gene: ARHGEF9: 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 ARHGEF9 Helen Lord reviewed gene: ARHGEF9: 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 v1.212 ARHGEF9 Rebecca Foulger Added comment: Comment on mode of inheritance: OMIM lists XLR mode of inheritance for 'Epileptic encephalopathy, early infantile, 8' (MIM:300607). Gene2Phenotype lists hemizygous mode of inheritance (XLR) for EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8.
Early onset or syndromic epilepsy v1.212 ARHGEF9 Rebecca Foulger Mode of inheritance for gene: ARHGEF9 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 ARHGEF9 Rebecca Foulger Source Wessex and West Midlands GLH was added to ARHGEF9.
Early onset or syndromic epilepsy v1.190 ARHGEF9 Rebecca Foulger Source NHS GMS was added to ARHGEF9.
Early onset or syndromic epilepsy v1.189 ARHGEF9 Rebecca Foulger reviewed gene: ARHGEF9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 ARHGEF9 Tracy Lester reviewed gene: ARHGEF9: Rating: GREEN; Mode of pathogenicity: ; Publications: 21633362, 15215304 ; Phenotypes: Epileptic encephalopathy, early infantile, 8, 300607; 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 v0.671 ARHGEF9 Sarah Leigh Phenotypes for gene: ARHGEF9 were changed from to Epileptic encephalopathy, early infantile, 8 300607
Early onset or syndromic epilepsy ARHGEF9 Sarah Leigh Added gene to panel