Severe microcephaly
Gene: NUF2Comment 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
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: LiteratureCreated: 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
Gene: nuf2 has been classified as Red List (Low Evidence).
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