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| Early onset or syndromic epilepsy v4.111 | GABRB1 | Arina Puzriakova Tag Q1_23_promote_green was removed from gene: GABRB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v4.110 | GABRB1 | Arina Puzriakova reviewed gene: GABRB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v4.109 | GABRB1 |
Arina Puzriakova Source Expert Review Green was added to GABRB1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v3.50 | GABRB1 | Sarah Leigh Tag Q1_23_promote_green tag was added to gene: GABRB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.50 | GABRB1 | Sarah Leigh edited their review of gene: GABRB1: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least three variants have been reported in unrelated cases with epilepsy (PMID: 26950270, 27273810, 31618474).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.50 | GABRB1 | Sarah Leigh Classified gene: GABRB1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.50 | GABRB1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.50 | GABRB1 | Sarah Leigh Gene: gabrb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.49 | GABRB1 | Sarah Leigh Phenotypes for gene: GABRB1 were changed from Epileptic encephalopathy, early infantile, 45, 617153 to Epileptic encephalopathy, early infantile, 45, OMIM:617153; developmental and epileptic encephalopathy, 45, MONDO:0014942 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.48 | GABRB1 | Sarah Leigh Publications for gene: GABRB1 were set to 26950270; 27273810 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | GABRB1 | Zornitza Stark reviewed gene: GABRB1: Rating: ; Mode of pathogenicity: None; Publications: 23934111, 27273810, 31618474; Phenotypes: Epileptic encephalopathy, early infantile, 45, MIM# 617153; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.189 | GABRB1 | Rebecca Foulger reviewed gene: GABRB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.188 | GABRB1 | Tracy Lester reviewed gene: GABRB1: Rating: AMBER; Mode of pathogenicity: ; Publications: 27273810, 26950270 ; Phenotypes: Epileptic encephalopathy, early infantile, 45, 617153; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.187 | GABRB1 |
Rebecca Foulger gene: GABRB1 was added gene: GABRB1 was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,NHS GMS,Expert Review Amber Mode of inheritance for gene: GABRB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GABRB1 were set to 26950270; 27273810 Phenotypes for gene: GABRB1 were set to Epileptic encephalopathy, early infantile, 45, 617153 |
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