Genomics England
GMS Panels
Panels
Genes and Entities

DYNC2LI1

dynein cytoplasmic 2 light intermediate chain 1
OMIM: 617083
PanelMode of inheritanceDetails
5 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY, SRTD15
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DYNC2LI1-related short-rib polydactyly, OMIM:617088
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 15 with polydactyly, 617088
Green
in Skeletal ciliopathies
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib throacic dysplasia 15 with polydactyly, 617088
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
SRTD15 #617088, SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY, SRTD15 #617088