| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Likely inborn error of metabolism - targeted testing not possible v2.250 | EHBP1L1 | Eleanor Williams Tag gene-checked tag was added to gene: EHBP1L1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.229 | EHBP1L1 | Ivone Leong Tag Q4_21_rating was removed from gene: EHBP1L1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.229 | EHBP1L1 | Sarah Leigh commented on gene: EHBP1L1: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.229 | EHBP1L1 |
Ivone Leong Source Expert Review Green was added to EHBP1L1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.188 | EHBP1L1 | Sarah Leigh Tag Q4_21_rating tag was added to gene: EHBP1L1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.188 | EHBP1L1 | Sarah Leigh Entity copied from Fetal hydrops v1.39 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.188 | EHBP1L1 |
Sarah Leigh gene: EHBP1L1 was added gene: EHBP1L1 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Literature Mode of inheritance for gene: EHBP1L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EHBP1L1 were set to 34645488; 26833786; https://dmdd.org.uk/mutants/Ehbp1l1 Phenotypes for gene: EHBP1L1 were set to non-immune hydrops fetalis MONDO:0009369 Penetrance for gene: EHBP1L1 were set to unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||