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Fetal anomalies

Gene: NUF2

Red List (low evidence)

NUF2 (NUF2, NDC80 kinetochore complex component)
EnsemblGeneIds (GRCh38): ENSG00000143228
EnsemblGeneIds (GRCh37): ENSG00000143228
OMIM: 611772, Gene2Phenotype
NUF2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

PMID: 33721060 - de novo missense variant identified in one male patient with microcephaly and short stature, with additional features, such as bilateral vocal cord paralysis, micrognathia and atrial septal defect.
Sources: Expert Review
Created: 3 Mar 2022, 2:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Syndromic disease, MONDO:0002254; microcephaly; short stature; bilateral vocal cord paralysis; micrognathia; atrial septal defect

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Syndromic disease, MONDO:0002254
  • microcephaly
  • short stature
  • bilateral vocal cord paralysis
  • micrognathia
  • atrial septal defect
OMIM
611772
Clinvar variants
Variants in NUF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nuf2 has been classified as Red List (Low Evidence).

3 Mar 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NUF2 was added gene: NUF2 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: NUF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NUF2 were set to 33721060 Phenotypes for gene: NUF2 were set to Syndromic disease, MONDO:0002254; microcephaly; short stature; bilateral vocal cord paralysis; micrognathia; atrial septal defect Review for gene: NUF2 was set to RED