Peroxisomal disorders
Gene: NSDHL

NSDHL (NAD(P) dependent steroid dehydrogenase-like)
EnsemblGeneIds (GRCh38): ENSG00000147383
EnsemblGeneIds (GRCh37): ENSG00000147383
OMIM: 300275, Gene2Phenotype
NSDHL is in 12 panels

3 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Enzyme localises to ER rather than peroxisomes.
Created: 20 Jul 2020, 10:23 a.m. | Last Modified: 20 Jul 2020, 10:24 a.m.

Panel Version: 1.6

Created: 20 Jul 2020, 10:23 a.m.
Last Modified: 20 Jul 2020, 10:24 a.m.
Panel version: 1.6

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.

Created: 3 Apr 2017, 4:52 p.m.

Panel version: 1.5

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.

Created: 23 Aug 2016, 10:51 a.m.

Panel version: 0.77

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

Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
UKGTN
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