Genomics England
GMS Panels
Panels
Genes and Entities

OBSL1

obscurin like 1
OMIM: 610991
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-M SYNDROME 2 612921
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-M SYNDROME 2
Green
in Growth failure in early childhood
R-numbers: R147
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3M, 3-M syndrome 2, 612921
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.31
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-M syndrome 2 612921