Genomics England
GMS Panels
Panels
Genes and Entities

MSL2

MSL complex subunit 2
OMIM: 614802
PanelMode of inheritanceDetails
3 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
MSL2-related developmental disorder (monoallelic)
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Karayol-Borroto-Haghshenas neurodevelopmental syndrome, OMIM:620985
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, NOT imprinted
Phenotypes
Karayol-Borroto-Haghshenas neurodevelopmental syndrome, OMIM:620985