1. Genes and Genomic Entities
  2. PAN2

PAN2

PAN2 poly(A) specific ribonuclease subunit
OMIM: 617447, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green PAN2 in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PAN2-related neurodevelopmental disorder with multiple congenital anomalies
    Tags
    • gene-checked
    Green PAN2 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
    • NHS GMS
    • Literature
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • Sensorineural hearing impairment
    • Abnormality of the genitourinary system
    • Abnormality of the cardiovascular system
    • Abnormality of blood and blood-forming tissues
    • EEG abnormality
    • Seizures
    • Anorectal anomaly
    • Abnormality of the skeletal system
    • Abnormality of the eye
    • Abnormality of head or neck
    Tags
    • gene-checked