EHBP1L1

EH domain binding protein 1 like 1
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber EHBP1L1 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • non-immune hydrops fetalis MONDO:0009369
Tags
  • gene-checked
Green EHBP1L1 in Likely inborn error of metabolism - targeted testing not possible


Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • non-immune hydrops fetalis MONDO:0009369
    Tags
    • gene-checked
    Green EHBP1L1 in Fetal anomalies


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • non-immune hydrops fetalis MONDO:0009369
    Tags
    • gene-checked