Genomics England
GMS Panels
Panels
Genes and Entities

SLC12A2

solute carrier family 12 member 2
OMIM: 600840
PanelMode of inheritanceDetails
2 panels
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Kilquist syndrome, deafness, intellectual disability, dysmorphic features, absent salivation, ectodermal dysplasia, constipation, intestinal malrotation, multiple congenital anomalies
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.23
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Bilateral sensorineural hearing loss, Intellectual disability, Secretory defects