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Fetal anomalies

Gene: NANS

Green List (high evidence)

NANS (N-acetylneuraminate synthase)
EnsemblGeneIds (GRCh38): ENSG00000095380
EnsemblGeneIds (GRCh37): ENSG00000095380
OMIM: 605202, Gene2Phenotype
NANS is in 7 panels

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic NANS variants identified in nine individuals from six families, with infantile-onset severe developmental delay and skeletal dysplasia. Prenatal history was unremarkable in all patients except for one, in whom prenatal hydrocephalus was diagnosed. Disproportionately short limbs were observed in three patients at birth. Body measurements at birth were normal or slightly lower than normal, but growth velocity decreased during the first or second year of life, and short stature with shortening of both the trunk and limbs was present in all adult patients. Distinct features include facial dysmorphisms and the skeletal dysplasia with short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses.
Created: 5 Dec 2021, 11:59 p.m. | Last Modified: 5 Dec 2021, 11:59 p.m.
Panel Version: 0.957

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondyloepimetaphyseal dysplasia, Camera-Genevieve type (MIM#610442)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Camera-Genevieve type (MIM#610442)
OMIM
605202
Clinvar variants
Variants in NANS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nans has been classified as Green List (High Evidence).

6 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NANS were changed from infantile-onset severe developmental delay and skeletal dysplasia to Spondyloepimetaphyseal dysplasia, Camera-Genevieve type (MIM#610442)

6 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NANS were set to

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NANS was added gene: NANS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: NANS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NANS were set to infantile-onset severe developmental delay and skeletal dysplasia