Genomics England
GMS Panels
Panels
Genes and Entities

SLC30A9

solute carrier family 30 member 9
OMIM: 604604
PanelMode of inheritanceDetails
2 panels
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Birk-Landau-Perez syndrome, OMIM:617595
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Birk-Landau-Perez syndrome, OMIM:617595