Severe microcephaly

Gene: NUP214

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

Created: 10 Oct 2023, 2:56 p.m. | Last Modified: 10 Oct 2023, 2:56 p.m.

Panel Version: 4.33

Associated with Encephalopathy, acute, infection-induced, susceptibility to, 9, (OMIM:618426) and as strong Gen2Phen gene for Acute Febrile Encephalopathy. Four NUP214 variants have been reported in three unrelated families (PMID: 31178128; 30758658). Patient fibroblasts homozygous for rs1564175808 showed dysmorphic nuclei with an abnormal surface morphology and dramatic disruption of NUP214 localization from the nuclear rim similar to that observed in cells with knockdown of the NUP214 gene (PMID: 30758658). Developmental delay, epilespy and progressive severe microcephaly were reported in the three families reported above.

Created: 23 Feb 2023, 12:40 p.m. | Last Modified: 23 Feb 2023, 12:40 p.m.

Panel Version: 3.67

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.

Created: 23 Feb 2023, 10:48 a.m. | Last Modified: 23 Feb 2023, 10:48 a.m.

Panel Version: 3.66

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

Three unrelated families reported.
Sources: Expert list

Created: 24 Jan 2020, 10:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Encephalopathy, acute, infection-induced, susceptibility to, 9, MIM# 618426; epileptic encephalopathy; developmental regression; microcephaly

Publications

• 31178128
• 30758658

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