Palmoplantar Keratoderma and Erythrokeratoderma
Gene: NSDHLEnsemblGeneIds (GRCh38): ENSG00000147383
EnsemblGeneIds (GRCh37): ENSG00000147383
OMIM: 300275, Gene2Phenotype
NSDHL is in 17 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
CHILD = Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
PMID: 15689440;26459993; GeneReviews
- Over 20 variants reported.
*affected females. Males are usually lethal however, few males reported including 1 mosaic (GeneReviews)
*expressivity is highly variable; in affected females, CHILD syndrome may manifest as minor skin changes only. (GeneReviews)
Sources: LiteratureCreated: 19 Aug 2020, 4:32 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
CHILD syndrome (MIM#308050)
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- CHILD syndrome (MIM#308050)
- OMIM
- 300275
- Clinvar variants
- Variants in NSDHL
- Penetrance
- unknown
- Publications
- Panels with this gene
-
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Clefting disorders
- Prepair 1000+
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Hand and foot malformations
- Skeletal Dysplasia_Fetal
- Palmoplantar Keratoderma and Erythrokeratoderma
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Lissencephaly and Band Heterotopia
- Mendeliome
- Ichthyosis
- Polymicrogyria and Schizencephaly
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nsdhl has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nsdhl has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Ain Roesley (Victorian Clinical Genetics Services)gene: NSDHL was added gene: NSDHL was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: NSDHL were set to 15689440; 26459993 Phenotypes for gene: NSDHL were set to CHILD syndrome (MIM#308050) Penetrance for gene: NSDHL were set to unknown Review for gene: NSDHL was set to GREEN