Genomics England
GMS Panels
Panels
Genes and Entities

PAN2

PAN2 poly(A) specific ribonuclease subunit
OMIM: 617447
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PAN2-related neurodevelopmental disorder with multiple congenital anomalies, Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies, OMIM:621384
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies, OMIM:621384
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies, OMIM:621384