YIF1B

Yip1 interacting factor homolog B, membrane trafficking protein
Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green YIF1B in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Kaya-Barakat-Masson syndrome, MIM# 619125
  • Central hypotonia
  • Failure to thrive
  • Microcephaly
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Spasticity
  • Abnormality of movement

Green YIF1B in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Kaya-Barakat-Masson syndrome, MIM# 619125
  • Central hypotonia
  • Failure to thrive
  • Microcephaly
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Spasticity
  • Abnormality of movement

Amber YIF1B in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Kaya-Barakat-Masson syndrome, MIM# 619125
    • Central hypotonia
    • Failure to thrive
    • Microcephaly
    • Global developmental delay
    • Intellectual disability
    • Seizures
    • Spasticity
    • Abnormality of movement

    Green YIF1B in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Kaya-Barakat-Masson syndrome, MIM# 619125
    • Central hypotonia
    • Failure to thrive
    • Microcephaly
    • Global developmental delay
    • Intellectual disability
    • Seizures
    • Spasticity
    • Abnormality of movement

    Green YIF1B in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.235

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Kaya-Barakat-Masson syndrome, MIM# 619125
    • Central hypotonia
    • Failure to thrive
    • Microcephaly
    • Global developmental delay
    • Intellectual disability
    • Seizures
    • Spasticity
    • Abnormality of movement

    Red YIF1B in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

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

    Green YIF1B in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Kaya-Barakat-Masson syndrome, MIM# 619125

    Red YIF1B in Prepair 1000+


    Level 2: Screening
    Version 1.9

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