Hand and foot malformations
Gene: NSDHLEnsemblGeneIds (GRCh38): ENSG00000147383
EnsemblGeneIds (GRCh37): ENSG00000147383
OMIM: 300275, Gene2Phenotype
NSDHL is in 17 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Well-established gene-disease association(see OMIM entry). CHILD syndrome is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders) and is an inborn error of sterol metabolism.
Sources: NHS GMSCreated: 7 Feb 2021, 2:29 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; Disorders of sterol biosynthesis
Publications
Variants in this GENE are reported as part of current diagnostic practice
Crystle Lee (Victorian Clinical Genetics Services)
>10 female patients reported with CHILD syndromeCreated: 20 Jul 2020, 6:12 a.m. | Last Modified: 20 Jul 2020, 6:12 a.m.
Panel Version: 0.3413
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 (MMIM#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 list
- Expert Review Green
- Expert Review Green
- NHS GMS
- Phenotypes
-
- CK syndrome 300831
- Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050
- OMIM
- 300275
- Clinvar variants
- Variants in NSDHL
- Penetrance
- None
- 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
- Palmoplantar Keratoderma and Erythrokeratoderma
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Lissencephaly and Band Heterotopia
- Mendeliome
- Ichthyosis
- Polymicrogyria and Schizencephaly
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: NSDHL was added gene: NSDHL was added to Hand and foot malformation. Sources: Expert Review Green,Expert list 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) Phenotypes for gene: NSDHL were set to CK syndrome 300831; Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050