Activity
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| DDG2P v5.30 | NUP107 | Achchuthan Shanmugasundram 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.29 | NUP107 | Achchuthan Shanmugasundram Publications for gene: NUP107 were set to 28280135; 26411495 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.28 | NUP107 | Achchuthan Shanmugasundram edited their review of gene: NUP107: Changed phenotypes to: NUP107-related steroid resistant nephrotic syndrome with microcephaly, developmental delay and simplified gyration (Galloway-Mowat syndrome), OMIM:618348 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | NUP107 | Achchuthan Shanmugasundram edited their review of gene: NUP107: Added comment: 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).; Changed rating: GREEN; Changed publications to: 28280135, 26411495, 30179222; Changed phenotypes to: NUP107-related steroid resistant nephrotic syndrome with microcephaly, developmental delay and simplified gyration (Galloway-Mowat syndrome), OMIM:618348, GALLOWAY-MOWAT SYNDROME 7, OMIM:618348 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.2 | NUP107 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NUP107. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.71 | NUP107 | Achchuthan Shanmugasundram 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.70 | NUP107 | Achchuthan Shanmugasundram Tag watchlist was removed from gene: NUP107. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NUP107 | Achchuthan Shanmugasundram reviewed gene: NUP107: Rating: RED; Mode of pathogenicity: ; Publications: 28280135, 26411495; Phenotypes: GALLOWAY-MOWAT SYNDROME 7, OMIM:618348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NUP107 |
Achchuthan Shanmugasundram 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) |
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| DDG2P v1.171 | NUP107 | Rebecca Foulger Tag watchlist tag was added to gene: NUP107. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.171 | NUP107 | Rebecca Foulger commented on gene: NUP107: Added 'watchlist' tag to highlight different G2P ratings for different disorders. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.150 | NUP107 | Rebecca Foulger 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.149 | NUP107 | Rebecca Foulger Publications for gene: NUP107 were set to 26411495 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.148 | NUP107 | Rebecca Foulger commented on gene: NUP107: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.148 | NUP107 | Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed. ; to: Original DDG2P rating for EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME: confirmed. DDG2P Mutation consequence: loss of function. DDG2P Allelic requirement: biallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NUP107 | Rebecca Foulger reviewed gene: NUP107: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NUP107 |
Rebecca Foulger 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 |
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