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Intellectual disability syndromic and non-syndromic

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

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic variants associated with infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses.
Created: 7 Mar 2022, 11:32 p.m. | Last Modified: 7 Mar 2022, 11:32 p.m.
Panel Version: 0.4537

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
  • Genetic Health Queensland
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

9 Mar 2022, 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).

9 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NANS were changed from to Spondyloepimetaphyseal dysplasia, Camera-Genevieve type - MIM#610442

9 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NANS were set to

9 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NANS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NANS was added gene: NANS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NANS was set to Unknown