YIF1B

Yip1 interacting factor homolog B, membrane trafficking protein
Gene2Phenotype

4 panels

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

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.67
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Central hypotonia
  • Failure to thrive
  • Microcephaly
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Spasticity
  • Abnormality of movement
Tags
  • watchlist
Amber YIF1B in Early onset or syndromic epilepsy

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.193
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Central hypotonia
    • Failure to thrive
    • Microcephaly
    • Global developmental delay
    • Intellectual disability
    • Seizures
    • Spasticity
    • Abnormality of movement
    Green YIF1B in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Central hypotonia
    • Failure to thrive
    • Microcephaly
    • Global developmental delay
    • Intellectual disability
    • Seizures
    • Spasticity
    • Abnormality of movement
    Tags
    • gene-checked
    Green YIF1B in Childhood onset dystonia, chorea or related movement disorder


    Version 3.75
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Central hypotonia
    • Failure to thrive
    • Microcephaly
    • Global developmental delay
    • Intellectual disability
    • Seizures
    • Spasticity
    • Abnormality of movement
    Tags
    • gene-checked