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Fetal anomalies

Gene: NMNAT2

Amber List (moderate evidence)

NMNAT2 (nicotinamide nucleotide adenylyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000157064
EnsemblGeneIds (GRCh37): ENSG00000157064
OMIM: 608701, Gene2Phenotype
NMNAT2 is in 3 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

For Hydrops:
2 fetuses from the same family presenting with hydrops. Further investigations including post-mortem found cystic hygroma, flexion contractures, lung hypoplasia, hydrocephalus, hypoplastic cerebellum, muscle atrophy, micrognathia, cleft palate, hydropic placenta, gut malrotation

Both were compound het for p.Q135Pfs*44 and p.R232Q and stillborns.

In vitro functional of the 2 variants demonstrated LoF

For polyneuropathy and erythromelalgia:
This gene has also been reported in 1 family homozygous for a missense
Created: 24 Jan 2022, 2:37 a.m. | Last Modified: 24 Jan 2022, 2:37 a.m.
Panel Version: 0.2710

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hydrops fetalis and multiple fetal anomalies; polyneuropathy; erythromelalgia

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Hydrops fetalis and multiple fetal anomalies
  • polyneuropathy
  • erythromelalgia
OMIM
608701
Clinvar variants
Variants in NMNAT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jan 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nmnat2 has been classified as Amber List (Moderate Evidence).

24 Jan 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NMNAT2 were changed from hydropic placenta; hydrocephalus; micrognathia; bilateral hypoplastic lungs; hypoplastic cerebellum; severely reduced skeletal muscle mass or absence; cleft palate; hydrops fetalis; flexion contractures of all extremities; cystic hygroma to Hydrops fetalis and multiple fetal anomalies; polyneuropathy; erythromelalgia

24 Jan 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NMNAT2 were set to 31132363; 23082226; 31136762

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NMNAT2 was added gene: NMNAT2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NMNAT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NMNAT2 were set to 31132363; 23082226; 31136762 Phenotypes for gene: NMNAT2 were set to hydropic placenta; hydrocephalus; micrognathia; bilateral hypoplastic lungs; hypoplastic cerebellum; severely reduced skeletal muscle mass or absence; cleft palate; hydrops fetalis; flexion contractures of all extremities; cystic hygroma