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Skeletal dysplasia

Gene: NANS

Green List (high evidence)
NANS (N-acetylneuraminate synthase)
EnsemblGeneIds (GRCh38): ENSG00000095380
EnsemblGeneIds (GRCh37): ENSG00000095380
OMIM: 605202, Gene2Phenotype
NANS is in 5 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Not in nosology paper but similar phenotypes listed. - at least 3 cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442

Publications

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

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: NANS; Initial rating suggestion: green if SD
Created: 6 Mar 2019, 11:36 a.m.
Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Sufficient evidence of causation. SEMD + ID
Created: 9 May 2017, 2 p.m.
Above PMID identified biallelic mutations in 9 cases. SEMD with ID.
Created: 9 May 2017, 1:58 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442

Publications

Created: 9 May 2017, 1:58 p.m.

Panel version: 1.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442
  • Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442
OMIM
605202
Clinvar variants
Variants in NANS
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442 for gene: NANS

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to NANS. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

NANS was created by helen.brittain

9 May 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

NANS was added to Unexplained skeletal dysplasiapanel. Sources: Literature