YIF1B

Yip1 interacting factor homolog B, membrane trafficking protein
Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber YIF1B in Severe microcephaly


Level 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Kaya-Barakat-Masson syndrome, OMIM:619125
Tags
  • watchlist
  • gene-checked
Amber YIF1B in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Kaya-Barakat-Masson syndrome, OMIM:619125
Tags
  • gene-checked
Amber YIF1B in Early onset or syndromic epilepsy


Level 2: Neurology
Version 8.120
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Kaya-Barakat-Masson syndrome, OMIM:619125
    Tags
    • gene-checked
    Green YIF1B in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Kaya-Barakat-Masson syndrome, OMIM:619125
    Tags
    • gene-checked
    Green YIF1B in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Kaya-Barakat-Masson syndrome, OMIM:619125
    Tags
    • gene-checked