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Hydrocephalus v2.127 | B4GAT1 | Ivone Leong Tag Q3_21_rating was removed from gene: B4GAT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hydrocephalus v2.127 | B4GAT1 | Sarah Leigh commented on gene: B4GAT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hydrocephalus v2.126 | B4GAT1 |
Ivone Leong Source Expert Review Green was added to B4GAT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Hydrocephalus v2.116 | B4GAT1 | Ivone Leong changed review comment from: Comment on list classification: This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.; to: Comment on list classification: This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. Hydrocephalus is part of the phenotype. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hydrocephalus v2.116 | B4GAT1 | Ivone Leong Entity copied from Malformations of cortical development v2.59 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hydrocephalus v2.116 | B4GAT1 |
Ivone Leong gene: B4GAT1 was added gene: B4GAT1 was added to Hydrocephalus. Sources: Expert Review Amber,Literature Q3_21_rating tags were added to gene: B4GAT1. Mode of inheritance for gene: B4GAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GAT1 were set to 23359570; 23877401; 23217742 Phenotypes for gene: B4GAT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, OMIM:615287 Penetrance for gene: B4GAT1 were set to Complete |