Severe microcephaly
Gene: NUP214
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
Three unrelated families reported.
Sources: Expert listCreated: 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
Variants in this GENE are reported as part of current diagnostic practice
Tag Q1_23_promote_green was removed from gene: NUP214.
Source Expert Review Green was added to NUP214. Source NHS GMS was added to NUP214. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
gene: NUP214 was added gene: NUP214 was added to Severe microcephaly. Sources: Expert list,Expert Review Amber Q1_23_promote_green tags were added to gene: NUP214. Mode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP214 were set to 31178128; 30758658 Phenotypes for gene: NUP214 were set to Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426; encephalopathy, acute, infection-induced, susceptibility to, 9, MONDO:0032742