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DDG2P

Gene: NUP107

Green List (high evidence)
NUP107 (nucleoporin 107)
EnsemblGeneIds (GRCh38): ENSG00000111581
EnsemblGeneIds (GRCh37): ENSG00000111581
OMIM: 607617, Gene2Phenotype
NUP107 is in 7 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease NUP107-related steroid resistant nephrotic syndrome with microcephaly, developmental delay and simplified gyration (Galloway-Mowat syndrome), OMIM:618348 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure;decreased gene product level (PMID: 30179222;28280135;26411495).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 2:39 p.m.
Panel Version: 5.3
The DDG2P confidence category for the disease GALLOWAY-MOWAT SYNDROME 7, OMIM:618348 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 28280135;26411495).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
NUP107-related steroid resistant nephrotic syndrome with microcephaly, developmental delay and simplified gyration (Galloway-Mowat syndrome), OMIM:618348

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 5.28

Rebecca Foulger (Genomics England curator)

I don't know

Added 'watchlist' tag to highlight different G2P ratings for different disorders.
Created: 28 Nov 2019, 8:54 a.m. | Last Modified: 28 Nov 2019, 8:54 a.m.
Panel Version: 1.171
New gene:disorder association added to DDG2P October 2019: GALLOWAY-MOWAT SYNDROME 7, 618348. G2P Allelic requirement: biallelic. G2P Mutation consequence: loss of function. G2P Disease confidence rating: possible.
Created: 26 Nov 2019, 9:32 a.m. | Last Modified: 26 Nov 2019, 9:32 a.m.
Panel Version: 1.148
Original DDG2P rating for EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME: confirmed. DDG2P Mutation consequence: loss of function. DDG2P Allelic requirement: biallelic.
Created: 19 Nov 2018, 11:30 a.m. | Last Modified: 12 Nov 2019, 1:12 p.m.
Panel Version: 1.148
Created: 19 Nov 2018, 11:30 a.m.
Last Modified: 12 Nov 2019, 1:12 p.m.
Panel version: 1.171

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • NUP107-related steroid resistant nephrotic syndrome with microcephaly, developmental delay and simplified gyration (Galloway-Mowat syndrome), OMIM:618348
OMIM
607617
Clinvar variants
Variants in NUP107
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: NUP107 were changed from GALLOWAY-MOWAT SYNDROME 7, OMIM:618348 to NUP107-related steroid resistant nephrotic syndrome with microcephaly, developmental delay and simplified gyration (Galloway-Mowat syndrome), OMIM:618348

21 Feb 2025, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: NUP107 were set to 28280135; 26411495

21 Feb 2025, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to NUP107. Rating Changed from Red List (low evidence) to Green List (high evidence)

7 Oct 2023, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: NUP107 were changed from GALLOWAY-MOWAT SYNDROME 7, 618348; EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME to GALLOWAY-MOWAT SYNDROME 7, OMIM:618348

7 Oct 2023, Gel status: 1

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist was removed from gene: NUP107.

4 Oct 2023, Gel status: 1

Added New Source, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Red was added to NUP107. Publications for gene: NUP107 were updated from 26411495; 28280135 to 28280135; 26411495 Rating Changed from Green List (high evidence) to Red List (low evidence)

28 Nov 2019, Gel status: 3

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: NUP107.

26 Nov 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: NUP107 were changed from EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME to GALLOWAY-MOWAT SYNDROME 7, 618348; EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME

26 Nov 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: NUP107 were set to 26411495

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: NUP107 was added gene: NUP107 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NUP107 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP107 were set to 26411495 Phenotypes for gene: NUP107 were set to EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME