| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DDG2P v3.12 | ZNF148 | Achchuthan Shanmugasundram reviewed gene: ZNF148: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ZNF148-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZNF142 | Achchuthan Shanmugasundram reviewed gene: ZNF142: Rating: GREEN; Mode of pathogenicity: ; Publications: 31036918, 35616059; Phenotypes: ZNF142-related neurodevelopmental disorder, OMIM:618425; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNF168 | Achchuthan Shanmugasundram reviewed gene: RNF168: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: RIDDLE SYNDROME, OMIM:611943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNF135 | Achchuthan Shanmugasundram reviewed gene: RNF135: Rating: RED; Mode of pathogenicity: ; Publications: 17632510; Phenotypes: MACROCEPHALY, MACROSOMIA, FACIAL DYSMORPHISM SYNDROME, OMIM:614192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNF13 | Achchuthan Shanmugasundram reviewed gene: RNF13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30595371; Phenotypes: Congenital Microcephaly Epileptic Encephalopathy Blindness and Failure to Thrive; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNF125 | Achchuthan Shanmugasundram reviewed gene: RNF125: Rating: RED; Mode of pathogenicity: Other; Publications: 34196401, 25196541; Phenotypes: RNF125-related intellectual disability and macrocephaly, OMIM:616260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNF113A | Achchuthan Shanmugasundram reviewed gene: RNF113A: Rating: RED; Mode of pathogenicity: ; Publications: 25612912; Phenotypes: X-LINKED TRICHOTHIODYSTROPHY; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NF1 | Achchuthan Shanmugasundram reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11258625, 1745350, 9529361, 12483293, 10712197, 1937470, 12438263, 9003501, 1302608, 1783401, 12707950, 15523642, 15520408, 7655472, 9668168, 11704931, 10677298, 30308447, 7633431, 13680360, 8317503, 8664912, 1719426, 1568247, 19449407, 19845691, 15948193; Phenotypes: NEUROFIBROMATOSIS TYPE 1, OMIM:162200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HNF1B | Achchuthan Shanmugasundram reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 11085914, 9398836, 11562418, 17440011, 15181075, 10484768, 10720943, 15068978, 12675839, 11317673; Phenotypes: RENAL CYSTS AND DIABETES SYNDROME, OMIM:137920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BANF1 | Achchuthan Shanmugasundram reviewed gene: BANF1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21549337; Phenotypes: NESTOR-GUILLERMO PROGERIA SYNDROME, OMIM:614008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ZNF148 |
Achchuthan Shanmugasundram gene: ZNF148 was added gene: ZNF148 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZNF148 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZNF148 were set to ZNF148-related developmental disorder (monoallelic) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ZNF142 |
Achchuthan Shanmugasundram gene: ZNF142 was added gene: ZNF142 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZNF142 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF142 were set to 31036918; 35616059 Phenotypes for gene: ZNF142 were set to ZNF142-related neurodevelopmental disorder, OMIM:618425 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RNF13 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RNF13. Mode of pathogenicity for gene RNF13 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RNF125 |
Achchuthan Shanmugasundram gene: RNF125 was added gene: RNF125 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: RNF125 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNF125 were set to 34196401; 25196541 Phenotypes for gene: RNF125 were set to RNF125-related intellectual disability and macrocephaly, OMIM:616260 Mode of pathogenicity for gene: RNF125 was set to Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NF1 | Achchuthan Shanmugasundram Publications for gene: NF1 were updated from 1745350; 9529361; 11704931 to 11258625; 1745350; 9529361; 12483293; 10712197; 1937470; 12438263; 9003501; 1302608; 1783401; 12707950; 15523642; 15520408; 7655472; 11704931; 9668168; 10677298; 30308447; 7633431; 13680360; 8317503; 8664912; 1719426; 1568247; 19449407; 19845691; 15948193 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HNF1B | Achchuthan Shanmugasundram Publications for gene: HNF1B were updated from 9398836; 11085914; 10484768; 15068978; 17440011; 11562418; 11317673; 10720943; 12675839; 15181075 to 11085914; 9398836; 12675839; 17440011; 15181075; 10484768; 10720943; 15068978; 11562418; 11317673 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | BANF1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to BANF1. Mode of pathogenicity for gene BANF1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.8 | RNF113A | Sarah Leigh Tag Skewed X-inactivation tag was added to gene: RNF113A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | RNF13 | Rebecca Foulger reviewed gene: RNF13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.37 | RNF13 |
Rebecca Foulger gene: RNF13 was added gene: RNF13 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RNF13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNF13 were set to 30595371 Phenotypes for gene: RNF13 were set to Congenital Microcephaly Epileptic Encephalopathy Blindness and Failure to Thrive Mode of pathogenicity for gene: RNF13 was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | RNF168 | Rebecca Foulger reviewed gene: RNF168: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | RNF135 | Rebecca Foulger reviewed gene: RNF135: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | RNF113A | Rebecca Foulger reviewed gene: RNF113A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NF1 | Rebecca Foulger reviewed gene: NF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HNF1B | Rebecca Foulger reviewed gene: HNF1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BANF1 | Rebecca Foulger reviewed gene: BANF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | RNF168 |
Rebecca Foulger gene: RNF168 was added gene: RNF168 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RNF168 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNF168 were set to RIDDLE SYNDROME 611943 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | RNF135 |
Rebecca Foulger gene: RNF135 was added gene: RNF135 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RNF135 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNF135 were set to 17632510 Phenotypes for gene: RNF135 were set to MACROCEPHALY, MACROSOMIA, FACIAL DYSMORPHISM SYNDROME 614192 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | RNF113A |
Rebecca Foulger gene: RNF113A was added gene: RNF113A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RNF113A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: RNF113A were set to 25612912 Phenotypes for gene: RNF113A were set to X-LINKED TRICHOTHIODYSTROPHY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NF1 |
Rebecca Foulger Added phenotypes FAMILIAL SPINAL NEUROFIBROMATOSIS 162210 for gene: NF1 Publications for gene NF1 were changed from 1302608; 8317503 to 1745350; 9529361; 11704931 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NF1 |
Rebecca Foulger Added phenotypes WATSON SYNDROME 193520 for gene: NF1 Publications for gene NF1 were changed from 11258625; 15520408; 9003501; 9668168; 12483293; 8664912; 1302608; 19449407; 15523642; 1783401; 1719426; 10712197; 1568247; 1937470; 13680360; 7633431; 12438263; 10677298; 15948193 to 1302608; 8317503 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NF1 |
Rebecca Foulger Added phenotypes NEUROFIBROMATOSIS TYPE 1 162200 for gene: NF1 Publications for gene NF1 were changed from 12707950; 19845691 to 11258625; 15520408; 9003501; 9668168; 12483293; 8664912; 1302608; 19449407; 15523642; 1783401; 1719426; 10712197; 1568247; 1937470; 13680360; 7633431; 12438263; 10677298; 15948193 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NF1 |
Rebecca Foulger gene: NF1 was added gene: NF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NF1 were set to 12707950; 19845691 Phenotypes for gene: NF1 were set to NEUROFIBROMATOSIS-NOONAN SYNDROME 601321 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HNF1B |
Rebecca Foulger gene: HNF1B was added gene: HNF1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HNF1B were set to 9398836; 11085914; 10484768; 15068978; 17440011; 11562418; 11317673; 10720943; 12675839; 15181075 Phenotypes for gene: HNF1B were set to RENAL CYSTS AND DIABETES SYNDROME 137920 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | BANF1 |
Rebecca Foulger gene: BANF1 was added gene: BANF1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: BANF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BANF1 were set to 21549337 Phenotypes for gene: BANF1 were set to NESTOR-GUILLERMO PROGERIA SYNDROME 614008 Mode of pathogenicity for gene: BANF1 was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||