Skeletal dysplasia
Gene: NSDHL
Chondrodysplasia punctata gp of SD >3 cases; Review on behalf of Tracy LesterCreated: 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
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: greenCreated: 6 Mar 2019, 11:36 a.m.
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.
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 308050Created: 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 recessiveCreated: 29 Jul 2016, 11:04 a.m.
Tier 2Created: 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
Added phenotypes Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050; CK syndrome 300831 for gene: NSDHL
Source NHS GMS was added to NSDHL. Rating Changed from Green List (high evidence) to Green List (high evidence)
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 version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for NSDHL were set to Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050; CK syndrome 300831
Phenotypes for NSDHL were set to Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050 XLD; CK syndrome 300831 XLR
Mode of inheritance for NSDHL was changed to Other - please specifiy in evaluation comments
NSDHL was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN
NSDHL was created by sleigh
NSDHL was added to Unexplained skeletal dysplasiapanel. Sources: