Severe microcephalyGene: NUP107
The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 10 Mar 2022, 1:37 p.m. | Last Modified: 10 Mar 2022, 1:37 p.m.
Panel Version: 2.292
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (possible). There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 16 Sep 2021, 12:31 p.m. | Last Modified: 16 Sep 2021, 12:31 p.m.
Panel Version: 2.232
Autosomal recessive disorder characterised by developmental delay, microcephaly (-5 to -9 SD), and early-onset nephrotic syndrome. Approx 10 families reported. Recurrent variant p.Met101Ile identified in several families, likely represents a South Asian founder allele.
Sources: Expert list
Created: 31 Aug 2020, 11:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Galloway-Mowat syndrome 7, MIM# 618348
Variants in this GENE are reported as part of current diagnostic practice
Tag Q3_21_rating was removed from gene: NUP107.
Source Expert Review Green was added to NUP107. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: NUP107 were changed from Galloway-Mowat syndrome 7, MIM# 618348 to Galloway-Mowat syndrome 7, OMIM:618348
Gene: nup107 has been classified as Amber List (Moderate Evidence).
Tag Q3_21_rating tag was added to gene: NUP107.
gene: NUP107 was added gene: NUP107 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: NUP107 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP107 were set to 28280135; 28117080; 30179222; 25558065 Phenotypes for gene: NUP107 were set to Galloway-Mowat syndrome 7, MIM# 618348 Review for gene: NUP107 was set to GREEN gene: NUP107 was marked as current diagnostic