Peroxisomal disordersGene: NSDHL
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
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.
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.
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)
Promoted to V1 3rd October 2016
Mode of inheritance for NSDHL was changed to Other - please specifiy in evaluation comments
NSDHL was added to Peroxisomal disorderspanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
Model of inheritance for gene NSDHL was set to Other - please specifiy in evaluation comments
Phenotypes for gene NSDHL were set to CHILD syndrome 308050 XLD; CK syndrome 300831 XLR
NSDHL was created by sleigh
NSDHL was added to Peroxisomal disorderspanel. Sources: Expert list