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  3. NMNAT2
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Hydrocephalus

Gene: NMNAT2

Red List (low evidence)
NMNAT2 (nicotinamide nucleotide adenylyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000157064
EnsemblGeneIds (GRCh37): ENSG00000157064
OMIM: 608701, Gene2Phenotype
NMNAT2 is in 6 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: New gene added by external expert (Michael Coleman (University of Cambridge), 11 Sep 2019) on Cerebellar hypoplasia panel v 1.37 and reviewed by curation team: Although appropriate to include on the panel the gene has been rated Red until there is more information to support gene-disease association. The current information in the literature does not support a Green rating as suggested by external reviewer, there are not sufficient cases, only an animal model (PMID:31136762)
Created: 20 Sep 2019, 5:29 p.m. | Last Modified: 20 Sep 2019, 5:29 p.m.
Panel Version: 1.36
Created: 20 Sep 2019, 5:29 p.m.
Last Modified: 20 Sep 2019, 5:29 p.m.
Panel version: 1.36

Michael Coleman (University of Cambridge)

Green List (high evidence)

Closely related phenotype in homozygous null mouse (PMID 23946398).
Sources: Research
Created: 11 Sep 2019, 9:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hydrops fetalis; cystic hygroma; bilateral hypoplastic lungs; hydrocephalus; hypoplastic cerebellum; severely reduced skeletal muscle mass or absence; flexion contractures of all extremities; micrognathia; cleft palate; hydropic placenta

Publications

Created: 11 Sep 2019, 9:57 p.m.

Panel version: 1.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • hydrops fetalis
  • cystic hygroma
  • bilateral hypoplastic lungs
  • hydrocephalus
  • hypoplastic cerebellum
  • severely reduced skeletal muscle mass or absence
  • flexion contractures of all extremities
  • micrognathia
  • cleft palate
  • hydropic placenta
OMIM
608701
Clinvar variants
Variants in NMNAT2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

20 Sep 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: NMNAT2 were set to PMID: 31136762

20 Sep 2019, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: nmnat2 has been classified as Red List (Low Evidence).

11 Sep 2019, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Michael Coleman (University of Cambridge)

gene: NMNAT2 was added gene: NMNAT2 was added to Hydrocephalus. Sources: Research Mode of inheritance for gene: NMNAT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NMNAT2 were set to PMID: 31136762 Phenotypes for gene: NMNAT2 were set to hydrops fetalis; cystic hygroma; bilateral hypoplastic lungs; hydrocephalus; hypoplastic cerebellum; severely reduced skeletal muscle mass or absence; flexion contractures of all extremities; micrognathia; cleft palate; hydropic placenta Penetrance for gene: NMNAT2 were set to Complete Review for gene: NMNAT2 was set to GREEN