Miscellaneous Metabolic Disorders
Gene: NSDHLEnsemblGeneIds (GRCh38): ENSG00000147383
EnsemblGeneIds (GRCh37): ENSG00000147383
OMIM: 300275, Gene2Phenotype
NSDHL is in 17 panels
1 review
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
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
- NHS GMS
- Phenotypes
-
- CHILD syndrome MIM#308050
- Disorders of sterol biosynthesis
- OMIM
- 300275
- Clinvar variants
- Variants in NSDHL
- Penetrance
- None
- 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
- 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: nsdhl has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: nsdhl has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: NSDHL was added gene: NSDHL was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS 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 27604308; 10710235 Phenotypes for gene: NSDHL were set to CHILD syndrome MIM#308050; Disorders of sterol biosynthesis Review for gene: NSDHL was set to GREEN gene: NSDHL was marked as current diagnostic