Skeletal dysplasia

Gene: NSDHL

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

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.

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 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.

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