Genomics England
GMS Panels
Panels
Genes and Entities

SLC12A6

solute carrier family 12 member 6
OMIM: 604878
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY 218000
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2II, OMIM:620068, Agenesis of the corpus callosum with peripheral neuropathy, OMIM:218000
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 6.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2II, OMIM:620068, Agenesis of the corpus callosum with peripheral neuropathy, OMIM:218000
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
Agenesis of the corpus callosum with peripheral neuropathy, OMIM:218000