Genomics England
GMS Panels
Panels
Genes and Entities
SLC12A9
solute carrier family 12 member 9
OMIM:
616861
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Panel
Mode of inheritance
Details
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1 panel
Green
in
DDG2P
Component of the following Super Panels:
- Paediatric disorders
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects