Hereditary Neuropathy - complex
Gene: SNAP29EnsemblGeneIds (GRCh38): ENSG00000099940
EnsemblGeneIds (GRCh37): ENSG00000099940
OMIM: 604202, Gene2Phenotype
SNAP29 is in 15 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
CEDNIK is characterised by a unique group of clinical phenotypes including global developmental delay with hypotonia, poor motor skills, impaired intellectual development with speech delay along with other variable features including microcephaly and neuropathy.
PMID: 33977139
The paper reports 6 individuals with CEDNIK syndrome however there is limited evidence to suggest how many individuals presented with neuropathy.Created: 9 Aug 2023, 4:59 a.m. | Last Modified: 9 Aug 2023, 4:59 a.m.
Panel Version: 0.237
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK) Syndrome (MONDO:0012290) (MIM#609528)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK) Syndrome (MONDO:0012290) (MIM#609528)
- Cerebral Dysgenesis and severe psychomotor retardation, axonal sensory-motor Neuropathy, Ichthyosis, palmoplantar Keratoderma, fatal by second decade of life
- OMIM
- 604202
- Clinvar variants
- Variants in SNAP29
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Hereditary Neuropathy - complex
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Palmoplantar Keratoderma and Erythrokeratoderma
- Fetal anomalies
- Additional findings_Paediatric
- Lissencephaly and Band Heterotopia
- Mendeliome
- Ichthyosis
- Prepair 500+
- Polymicrogyria and Schizencephaly
- Callosome
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: snap29 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SNAP29 were changed from Cerebral Dysgenesis and severe psychomotor retardation, axonal sensory-motor Neuropathy, Ichthyosis, palmoplantar Keratoderma, fatal by second decade of life to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK) Syndrome (MONDO:0012290) (MIM#609528); Cerebral Dysgenesis and severe psychomotor retardation, axonal sensory-motor Neuropathy, Ichthyosis, palmoplantar Keratoderma, fatal by second decade of life
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SNAP29 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SNAP29 was added gene: SNAP29 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNAP29 were set to Cerebral Dysgenesis and severe psychomotor retardation, axonal sensory-motor Neuropathy, Ichthyosis, palmoplantar Keratoderma, fatal by second decade of life