Genomics England
GMS Panels
Panels
Genes and Entities

PAN2

PAN2 poly(A) specific ribonuclease subunit
OMIM: 617447
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PAN2-related neurodevelopmental disorder with multiple congenital anomalies
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
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