Genomics England
GMS Panels
Panels
Genes and Entities

SNAP29

synaptosome associated protein 29
OMIM: 604202
PanelMode of inheritanceDetails
4 panels
Green
in Ichthyosis and erythrokeratoderma
R-numbers: R165
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome, OMIM:609528
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528, CEDNIK SYNDROME
Green
in Malformations of cortical development
Component of the following Super Panels:
  • - Cerebral malformations
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528, CEDNIK syndrome, MONDO:0012290
Green
in Palmoplantar keratodermas
R-numbers: R166
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome