Genes in panel

Ataxia and cerebellar anomalies - narrow panel

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

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

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)
Sources: Expert Review
Created: 20 Sep 2019, 4:56 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
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
None
Publications
Panels with this gene

History Filter Activity

20 Sep 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: NMNAT2 was added gene: NMNAT2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Mode of inheritance for gene: NMNAT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NMNAT2 were set to 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 Review for gene: NMNAT2 was set to RED