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| Fetal hydrops v1.55 | EHBP1L1 | Eleanor Williams Tag gene-checked tag was added to gene: EHBP1L1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.39 | EHBP1L1 | Sarah Leigh Publications for gene: EHBP1L1 were set to 34645488 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.38 | EHBP1L1 | Sarah Leigh edited their review of gene: EHBP1L1: Added comment: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. At least two variants reported in two unrelated families with non-immune hydrops fetalis (NIHF) resulting in recurrent fetal loss. Two Ehbp1l1−/− mouse models shared phenotypic features with the affected patients, including early death, abnormal intestinal microvilli, subcutaneous edema, perimembraneous ventricular septic defect, and thin myocardium (PMID 26833786, https://dmdd.org.uk/mutants/Ehbp1l1).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.38 | EHBP1L1 | Sarah Leigh Publications for gene: EHBP1L1 were set to PMID: 34645488 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.37 | EHBP1L1 | Sarah Leigh Phenotypes for gene: EHBP1L1 were changed from Non immune hydrops to non-immune hydrops fetalis MONDO:0009369 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.36 | EHBP1L1 | Sarah Leigh Classified gene: EHBP1L1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.36 | EHBP1L1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.36 | EHBP1L1 | Sarah Leigh Gene: ehbp1l1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.35 | EHBP1L1 |
Dmitrijs Rots gene: EHBP1L1 was added gene: EHBP1L1 was added to Fetal hydrops. Sources: Literature Mode of inheritance for gene: EHBP1L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EHBP1L1 were set to PMID: 34645488 Phenotypes for gene: EHBP1L1 were set to Non immune hydrops Penetrance for gene: EHBP1L1 were set to unknown Review for gene: EHBP1L1 was set to GREEN Added comment: 2 families with confirming mouse data Sources: Literature |
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