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Severe microcephaly

Gene: NUP107

Amber List (moderate evidence)

NUP107 (nucleoporin 107)
EnsemblGeneIds (GRCh38): ENSG00000111581
EnsemblGeneIds (GRCh37): ENSG00000111581
OMIM: 607617, Gene2Phenotype
NUP107 is in 9 panels

2 reviews

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)

Green List (high evidence)

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

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 Amber
Phenotypes
  • Galloway-Mowat syndrome 7, OMIM:618348
Tags
Q3_21_rating
OMIM
607617
Clinvar variants
Variants in NUP107
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Sep 2021, Gel status: 2

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

16 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: nup107 has been classified as Amber List (Moderate Evidence).

16 Sep 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: NUP107.

31 Aug 2020, Gel status: 0

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