Skeletal Dysplasia_Fetal
Gene: NANSEnsemblGeneIds (GRCh38): ENSG00000095380
EnsemblGeneIds (GRCh37): ENSG00000095380
OMIM: 605202, Gene2Phenotype
NANS is in 7 panels
1 review
Krithika Murali (Victorian Clinical Genetics Services)
Short stature with short limbs is a feature of this condition with intrauterine growth restriction of the limbs reported.
Sources: Literature, Expert listCreated: 30 Sep 2022, 1:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondyloepimetaphyseal dysplasia, Camera-Genevieve type-MIM#610442; NANS-CDG
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Literature
- Phenotypes
-
- Spondyloepimetaphyseal dysplasia, Camera-Genevieve type-MIM#610442
- NANS-CDG
- OMIM
- 605202
- Clinvar variants
- Variants in NANS
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nans has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nans has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Krithika Murali (Victorian Clinical Genetics Services)gene: NANS was added gene: NANS was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list Mode of inheritance for gene: NANS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NANS were set to 34163424 Phenotypes for gene: NANS were set to Spondyloepimetaphyseal dysplasia, Camera-Genevieve type-MIM#610442; NANS-CDG Review for gene: NANS was set to GREEN