SLC12A2

solute carrier family 12 member 2
OMIM: 600840
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
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
R-numbers: R67
Signed-off version 3.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Bilateral sensorineural hearing loss, Intellectual disability, Secretory defects