SLC6A9

solute carrier family 6 member 9
OMIM: 601019
PanelMode of inheritanceDetails
3 panels
R-numbers: R83
Signed-off version 4.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycine encephalopathy with normal serum glycine, OMIM:617301
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycine encephalopathy with normal serum glycine, OMIM:617301, Arthrogryposis, MONDO:0008779
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycine encephalopathy with normal serum glycine, OMIM:617301