Peroxisomal disorders

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

2 reviews

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, 4:52 p.m.

Sarah Leigh (Genomics England Curator)

Associated with phenotypes in OMIM and G2P. At least four variants reported in CHILD syndrome 308050 and two in CK syndrome 300831
Created: 23 Aug 2016, 10:51 a.m.
Comment on mode of inheritance: Both X-linked recessive and dominant
Created: 23 Aug 2016, 10:49 a.m.

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
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • CHILD syndrome 308050 XLD
  • CK syndrome 300831 XLR
OMIM
300275
Clinvar variants
Variants in NSDHL
Penetrance
Complete
Panels with this gene

History Filter Activity

3 Apr 2017, Gel status: 3

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)

3 Oct 2016, Gel status: 3

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 3rd October 2016

23 Aug 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

23 Aug 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

NSDHL was added to Peroxisomal disorderspanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN

23 Aug 2016, Gel status: 0

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene NSDHL was set to Other - please specifiy in evaluation comments

23 Aug 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene NSDHL were set to CHILD syndrome 308050 XLD; CK syndrome 300831 XLR

19 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

NSDHL was created by sleigh

19 Aug 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

NSDHL was added to Peroxisomal disorderspanel. Sources: Expert list