Hydrocephalus

Gene: NANS

Red List (low evidence)

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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Clear causation for NANS and the phenotype (9 cases from 6 unrelated families) but not considered appropriate for this panel. Hydrocephalus, of prenatal onset is reported in one case, but the recurrent features of SEMD and ID would be clearer presenting features for ascertaining this phenotype. I will arrange to add NANS under skeletal dysplasia and ID as appropriate.
Created: 9 May 2017, 1:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondyloepimetaphyseal dysplasia, Camera-Genevieve type

Publications

Details

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

History Filter Activity

29 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to NANS.

31 May 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

9 May 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NANS was added to Hydrocephaluspanel. Source: Expert Review Red

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 Hydrocephaluspanel. Sources: Literature