Genomics England
GMS Panels
Panels
Genes and Entities

EXOC3L2

exocyst complex component 3 like 2
OMIM: 616927
PanelMode of inheritanceDetails
2 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brain malformation renal syndrome, OMIM:620943, Dandy-Walker malformation, Meckel-Gruber-like syndrome
Green
in Neurological ciliopathies
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brain malformation renal syndrome, OMIM:620943