Genomics England
GMS Panels
Panels
Genes and Entities

SNAP29

synaptosome associated protein 29
OMIM: 604202
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CEDNIK SYNDROME 609528
Green
in Ichthyosis and erythrokeratoderma
R-numbers: R165
Signed-off version 3.2
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:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
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 malformation
Signed-off version 5.4
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 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome