1. Genes and Genomic Entities
  2. PAN2

PAN2

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green PAN2 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
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies, OMIM:621384
Green PAN2 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

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
    • Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies, OMIM:621384
    Green PAN2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    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
    • NHS GMS
    • Literature
    Phenotypes
    • Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies, OMIM:621384