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Skeletal dysplasia

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 12 panels

5 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Chondrodysplasia punctata gp of SD >3 cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 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

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: NSDHL; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Changed from 'other' as this X-linked mode of inheritance will allow tiering of both monoallelic and biallelic variants in females.
Created: 3 Apr 2017, 4:51 p.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM and G2P. Numerous variants reported in Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050 and two in Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050
Created: 29 Jul 2016, 11:05 a.m.
Comment on mode of inheritance: CHILD syndrome 308050 is X-linked dominant, CK syndrome 300831 X is X-linked recessive
Created: 29 Jul 2016, 11:04 a.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:06 a.m.

Mode of inheritance
Other - please specify in evaluation comments

Phenotypes
Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050 XLD; CK syndrome 300831 XLR

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
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert list
  • UKGTN
Phenotypes
  • Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050
  • CK syndrome 300831
OMIM
300275
Clinvar variants
Variants in NSDHL
Penetrance
Complete
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050; CK syndrome 300831 for gene: NSDHL

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to NSDHL. Rating Changed from Green List (high evidence) to Green List (high evidence)

3 Apr 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for NSDHL was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

29 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Jul 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for NSDHL were set to Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050; CK syndrome 300831

29 Jul 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for NSDHL were set to Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050 XLD; CK syndrome 300831 XLR

29 Jul 2016, Gel status: 3

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for NSDHL was changed to Other - please specifiy in evaluation comments

29 Jul 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

NSDHL was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

NSDHL was created by sleigh

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

NSDHL was added to Unexplained skeletal dysplasiapanel. Sources: