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Intellectual disability update Jan 2018

Gene: NDN

Red List (low evidence)
NDN (necdin, MAGE family member)
EnsemblGeneIds (GRCh38): ENSG00000182636
EnsemblGeneIds (GRCh37): ENSG00000182636
OMIM: 602117, Gene2Phenotype
NDN is in 1 panel

1 review

Sarah Leigh (Genomics England Curator)

Not associated with phenotype in OMIM or G2P. One variant reported in a case of Smith-Magenis-like syndrome a neurodevelopmental disorder (characterized by dysmorphic features, intellectual disability and sleep disturbances)(PMID 28213671)
Created: 6 Mar 2018, 7:26 p.m.
Created: 6 Mar 2018, 7:26 p.m.

Panel version: 0.385

Details

Sources
  • Literature
Phenotypes
  • Smith-Magenis-like syndrome
OMIM
602117
Clinvar variants
Variants in NDN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Mar 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for NDN were set to Smith-Magenis-like syndrome

6 Mar 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for NDN were set to Smith-Magenis syndrome

6 Mar 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for NDN were set to 28213671

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NDN was added to Intellectual disability update Jan 2018 panel. Sources: Literature

18 Dec 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

NDN was created by Ellen McDonagh