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Fetal anomalies

Gene: NXN

Green List (high evidence)

NXN (nucleoredoxin)
EnsemblGeneIds (GRCh38): ENSG00000167693
EnsemblGeneIds (GRCh37): ENSG00000167693
OMIM: 612895, Gene2Phenotype
NXN is in 3 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Robinow syndrome-2 is a skeletal dysplasia characterized by postnatal mesomelic short stature and relative macrocephaly as well as dysmorphic facial features, including frontal bossing, hypertelorism, prominent eyes, wide short nose with anteverted nares, and triangular mouth. Variable other congenital anomalies may be present, including omphalocele, ventral hernia, and cardiac anomalies. 2 families (3 affected patients) with autosomal recessive Robinow syndrome, and homozygous/comp.heterozygous mutations in the NXN gene that segregated with disease in the family. More cases reported since. Suitable for fetal anomalies panel.
Created: 14 Jan 2022, 4:55 a.m. | Last Modified: 14 Jan 2022, 4:55 a.m.
Panel Version: 0.2197

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Robinow syndrome, autosomal recessive 2, OMIM #618529

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Robinow syndrome, autosomal recessive 2, OMIM:618529
  • Robinow syndrome, autosomal recessive 2, MONDO:0032800
OMIM
612895
Clinvar variants
Variants in NXN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nxn has been classified as Green List (High Evidence).

20 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NXN were set to

14 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: nxn has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NXN was added gene: NXN was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NXN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NXN were set to Robinow syndrome, autosomal recessive 2, OMIM:618529; Robinow syndrome, autosomal recessive 2, MONDO:0032800