GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: NSDHLEnsemblGeneIds (GRCh38): ENSG00000147383
EnsemblGeneIds (GRCh37): ENSG00000147383
OMIM: 300275, Gene2Phenotype
NSDHL is in 12 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
Chondrodysplasia punctata gp of SD >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 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
Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050; CK syndrome 300831
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
-
- Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050
- CK syndrome 300831
- OMIM
- 300275
- Clinvar variants
- Variants in NSDHL
- Penetrance
- None
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Palmoplantar keratodermas
- Likely inborn error of metabolism
- Peroxisomal disorders
- Intellectual disability
- Early onset or syndromic epilepsy
- Clefting
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: NSDHL was added gene: NSDHL was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green 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 Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050; CK syndrome 300831