Ichthyosis
Gene: SNAP29EnsemblGeneIds (GRCh38): ENSG00000099940
EnsemblGeneIds (GRCh37): ENSG00000099940
OMIM: 604202, Gene2Phenotype
SNAP29 is in 15 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
At least 5 families with biallelic LoF variants associated with a multisystem disorder that includes both ichthyosis and palmar keratoderma later in development.
PMID 15968592: Describes individuals from 2 unrelated consanguineous Arab Muslim families with CEDNIK syndrome. Palmoplantar keratosis and ichthyosis appeared between 5 and 11 months of age. Variant was a homozygous frameshift.
PMID 21073448: Brother and sister from a consanguineous Pakistani family with CEDNIK syndrome. Phenotypes included palmoplantar keratosis and ichthyosis. Variant was a homozygous frameshift (8 hets in gnomAD).
PMID 25958742: describes another Arab family with a homozygous frameshift variant.
PMID 29051910: one more American Jordanian family with a homozygous nonsense variant.
Sources: LiteratureCreated: 12 Aug 2020, 7:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528)
- 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).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: snap29 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Paul De Fazio (Victorian Clinical Genetics Services)gene: SNAP29 was added gene: SNAP29 was added to Ichthyosis. Sources: Literature Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNAP29 were set to 15968592; 21073448 Phenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528) Review for gene: SNAP29 was set to AMBER gene: SNAP29 was marked as current diagnostic