Activity

Filter

Cancel
Date Panel Item Activity
11 actions
Fetal anomalies v6.178 HMGB1 Ida Ertmanska Publications for gene: HMGB1 were set to 34164801
Fetal anomalies v6.177 HMGB1 Ida Ertmanska Tag gene-checked tag was added to gene: HMGB1.
Fetal anomalies v6.152 HMGB1 Arina Puzriakova Added phenotypes brachyphalangy, polydactyly and tibial aplasia syndrome for gene: HMGB1
Fetal anomalies v6.150 HMGB1 Arina Puzriakova edited their review of gene: HMGB1: Changed rating: GREEN
Fetal anomalies v6.149 HMGB1 Arina Puzriakova commented on gene: HMGB1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.148 HMGB1 Arina Puzriakova commented on gene: HMGB1
Fetal anomalies v6.147 HMGB1 Esther Kinning reviewed gene: HMGB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36755093, 34164801, 39635340; Phenotypes: brachyphalangy, polydactyly and tibial aplasia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 HMGB1 Arina Puzriakova Source Expert Review Green was added to HMGB1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v4.36 HMGB1 Achchuthan Shanmugasundram commented on gene: HMGB1
Fetal anomalies v4.35 HMGB1 Lyn Chitty reviewed gene: HMGB1: Rating: RED; Mode of pathogenicity: ; Publications: 34164801; Phenotypes: Neurodevelopmental disorder MONDO:0700092, HMGB1-related, intellectual disability, microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.34 HMGB1 Achchuthan Shanmugasundram gene: HMGB1 was added
gene: HMGB1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: HMGB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HMGB1 were set to 34164801
Phenotypes for gene: HMGB1 were set to Neurodevelopmental disorder MONDO:0700092, HMGB1-related; intellectual disability; microcephaly