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  3. NUF2
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Severe microcephaly

Gene: NUF2

Red List (low evidence)
NUF2 (NUF2, NDC80 kinetochore complex component)
EnsemblGeneIds (GRCh38): ENSG00000143228
EnsemblGeneIds (GRCh37): ENSG00000143228
OMIM: 611772, Gene2Phenotype
NUF2 is in 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. As there is only 1 case there is currently not enough evidence to support a gene-disease association. This gene has been given a Red rating.
Created: 13 Sep 2021, 3:46 p.m. | Last Modified: 13 Sep 2021, 3:46 p.m.
Panel Version: 2.224
Created: 13 Sep 2021, 3:46 p.m.
Last Modified: 13 Sep 2021, 3:46 p.m.
Panel version: 2.224

Zornitza Stark (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: Literature
Created: 9 Jul 2021, 5:34 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
microcephaly; short stature; bilateral vocal cord paralysis; micrognathia; atrial septal defect

Publications

Created: 9 Jul 2021, 5:34 a.m.

Panel version: 2.217

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • 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

13 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

9 Jul 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: NUF2 was added gene: NUF2 was added to Severe microcephaly. Sources: Literature 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 microcephaly; short stature; bilateral vocal cord paralysis; micrognathia; atrial septal defect Review for gene: NUF2 was set to RED