Clefting
Gene: NSDHL
NSDHL (NAD(P) dependent steroid dehydrogenase-like)
EnsemblGeneIds (GRCh38): ENSG00000147383
EnsemblGeneIds (GRCh37): ENSG00000147383
OMIM: 300275, Gene2Phenotype
NSDHL is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000147383
EnsemblGeneIds (GRCh37): ENSG00000147383
OMIM: 300275, Gene2Phenotype
NSDHL is in 12 panels
1 review
Olivia Niblock (Genomics England Curator)
Linked to CK syndrome - however this is linked to a high palate rather than orofacial clefting.Created: 31 May 2017, 3:30 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Red
- Phenotypes
-
- CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
- OMIM
- 300275
- Clinvar variants
- Variants in NSDHL
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Rare genetic inflammatory skin disorders
- Likely inborn error of metabolism
- Intellectual disability
- Undiagnosed metabolic disorders
- Palmoplantar keratodermas
- Peroxisomal disorders
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Clefting
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
History Filter Activity
31 May 2017, Gel status: 1
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
31 May 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)NSDHL was added to Cleftingpanel. Sources: Expert Review Red
31 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)NSDHL was created by ellenmcdonagh