SNAP29

synaptosome associated protein 29
OMIM: 604202
PanelMode of inheritanceDetails
3 panels
R-numbers: R165
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CEDNIK syndrome, Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome, Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma, 609528
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528, CEDNIK SYNDROME
R-numbers: R166
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome