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Intellectual disability

Gene: NANS

Green List (high evidence)

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

2 reviews

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : loss of function
Created: 27 Jul 2017, 7:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Sufficient cases for causation. Appropriate for inclusion.
Created: 9 May 2017, 1:52 p.m.
Comment on list classification: 9 cases with biallelic mutations in listed PMID. Severe developmental delay a reported feature.
Created: 9 May 2017, 1:51 p.m.
PMID 27213289 reports 9 cases with SEMD and significant developmental delay / ID. Therefore sufficient evidence for inclusion.
Created: 9 May 2017, 1:50 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442

Publications

Details

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

History Filter Activity

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

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

Added New Source

Helen Brittain (Genomics England Curator)

NANS was added to Intellectual disabilitypanel. Sources: Literature

9 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

NANS was created by helen.brittain