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Early onset or syndromic epilepsy v1.191 DENND5A Rebecca Foulger Source Wessex and West Midlands GLH was added to DENND5A.
Early onset or syndromic epilepsy v1.190 DENND5A Rebecca Foulger Source NHS GMS was added to DENND5A.
Early onset or syndromic epilepsy v1.189 DENND5A Rebecca Foulger edited their review of gene: DENND5A: 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 DENND5A Tracy Lester reviewed gene: DENND5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 27866705, 27431290 ; Phenotypes: pileptic encephalopathy early infantile, 617281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1076 DENND5A Rebecca Foulger Marked gene: DENND5A as ready
Early onset or syndromic epilepsy v0.1076 DENND5A Rebecca Foulger Gene: dennd5a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1076 DENND5A Rebecca Foulger Classified gene: DENND5A as Green List (high evidence)
Early onset or syndromic epilepsy v0.1076 DENND5A Rebecca Foulger Gene: dennd5a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1075 DENND5A Rebecca Foulger Classified gene: DENND5A as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.1075 DENND5A Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Although only Probable confidence level in DD-G2P for EPILEPTIC ENCEPHALOPATHY, there are suffcient cases from PMIDs 27866705 and 27431290 (5 individuals from 4 unrelated families) to support gene:disease association and diagnostic rating.
Early onset or syndromic epilepsy v0.1075 DENND5A Rebecca Foulger Gene: dennd5a has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1074 DENND5A Rebecca Foulger Publications for gene: DENND5A were set to
Early onset or syndromic epilepsy v0.1073 DENND5A Rebecca Foulger Mode of inheritance for gene: DENND5A was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1072 DENND5A Rebecca Foulger commented on gene: DENND5A
Early onset or syndromic epilepsy v0.1072 DENND5A Rebecca Foulger Phenotypes for gene: DENND5A were changed from to Epileptic encephalopathy, early infantile, 49, 617281
Early onset or syndromic epilepsy DENND5A Zornitza Stark reviewed gene: DENND5A
Early onset or syndromic epilepsy DENND5A Sarah Leigh Added gene to panel