Severe microcephaly
Gene: NUP107EnsemblGeneIds (GRCh38): ENSG00000111581
EnsemblGeneIds (GRCh37): ENSG00000111581
OMIM: 607617, Gene2Phenotype
NUP107 is in 7 panels
3 reviews
Sarah Leigh (Genomics England Curator)
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
Ivone Leong (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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 listCreated: 31 Aug 2020, 11:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galloway-Mowat syndrome 7, MIM# 618348
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Galloway-Mowat syndrome 7, OMIM:618348
- OMIM
- 607617
- Clinvar variants
- Variants in NUP107
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q3_21_rating was removed from gene: NUP107.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to NUP107. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: NUP107 were changed from Galloway-Mowat syndrome 7, MIM# 618348 to Galloway-Mowat syndrome 7, OMIM:618348
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: nup107 has been classified as Amber List (Moderate Evidence).
Added Tag
Ivone Leong (Genomics England Curator)Tag Q3_21_rating tag was added to gene: NUP107.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)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