YIF1B:Ensemblv115

Yip1 interacting factor homolog B, membrane trafficking protein
OMIM: 619109, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green YIF1B in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
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 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
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 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
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 1.0

2 reviews 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 Prepair 1000+


Level 2: Screening
Version 3.0

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