Genomics England
GMS Panels
Panels
Genes and Entities

ASXL2

additional sex combs like 2, transcriptional regulator
OMIM: 612991
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Developmental delay, macrocephaly, and dysmorphic features
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Shashi-Pena syndrome, OMIM:617190
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Shashi-Pena syndrome 617190
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 9.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Shashi-Pena syndrome 617190, Shashi-Pena syndrome 617190