Genomics England
GMS Panels
Panels
Genes and Entities

SLC6A9

solute carrier family 6 member 9
OMIM: 601019
PanelMode of inheritanceDetails
4 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycine encephalopathy with normal serum glycine, OMIM:617301
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycine Encephalopathy with Arthrogryposis
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycine encephalopathy with normal serum glycine, OMIM:617301, Arthrogryposis, MONDO:0008779
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycine encephalopathy with normal serum glycine, OMIM:617301