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 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-M SYNDROME 2 612921
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-M SYNDROME 2
Green
in Monogenic short stature
R-numbers: R453
Signed-off version 1.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-M syndrome 2, OMIM:612921
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-M syndrome 2 612921