Hand and foot malformations

Gene: NSDHL

Green List (high evidence)

NSDHL (NAD(P) dependent steroid dehydrogenase-like)
EnsemblGeneIds (GRCh38): ENSG00000147383
EnsemblGeneIds (GRCh37): ENSG00000147383
OMIM: 300275, Gene2Phenotype
NSDHL is in 17 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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 GMS
Created: 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)

Green List (high evidence)

>10 female patients reported with CHILD syndrome
Created: 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

History Filter Activity

22 Sep 2021, Gel status: 3

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