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| DDG2P v3.12 | SPRY1 | Achchuthan Shanmugasundram reviewed gene: SPRY1: Rating: RED; Mode of pathogenicity: Other; Publications: 36543535; Phenotypes: SPRY1-associated craniosynostosis with inner ear and renal anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPRTN | Achchuthan Shanmugasundram reviewed gene: SPRTN: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: PROGEROID SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPRED2 | Achchuthan Shanmugasundram reviewed gene: SPRED2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34626534; Phenotypes: SPRED2-related Noonan syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPRED1 | Achchuthan Shanmugasundram reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17704776, 19443465, 21649642, 19366998; Phenotypes: LEGIUS SYNDROME, OMIM:611431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPR | Achchuthan Shanmugasundram reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: ; Publications: 11443547; Phenotypes: DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, OMIM:612716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SOX10 | Achchuthan Shanmugasundram reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: ; Publications: 18627047, 8911608, 21965087, 11026454, 10482261, 18348274, 23643381, 12447940, 9462749, 18348267, 19764030, 17999358, 19208381, 10077527, 20478267, 10762540; Phenotypes: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE, OMIM:609136, WAARDENBURG SYNDROME TYPE 2E, OMIM:611584, YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME, OMIM:601706; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RSPRY1 | Achchuthan Shanmugasundram reviewed gene: RSPRY1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26365341; Phenotypes: PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PHOX2B | Achchuthan Shanmugasundram reviewed gene: PHOX2B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16691592, 16888290, 12640453, 12438263, 15024693; Phenotypes: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, OMIM:209880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SPRY1 |
Achchuthan Shanmugasundram gene: SPRY1 was added gene: SPRY1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: SPRY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPRY1 were set to 36543535 Phenotypes for gene: SPRY1 were set to SPRY1-associated craniosynostosis with inner ear and renal anomalies Mode of pathogenicity for gene: SPRY1 was set to Other |
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| DDG2P v3.11 | SPRTN | Achchuthan Shanmugasundram Mode of pathogenicity for gene SPRTN was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SPRED2 |
Achchuthan Shanmugasundram gene: SPRED2 was added gene: SPRED2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPRED2 were set to 34626534 Phenotypes for gene: SPRED2 were set to SPRED2-related Noonan syndrome |
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| DDG2P v3.11 | SPRED1 | Achchuthan Shanmugasundram Publications for gene: SPRED1 were updated from 19366998; 17704776; 21649642; 19443465 to 17704776; 19443465; 21649642; 19366998 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RSPRY1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RSPRY1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | SPRTN | Rebecca Foulger reviewed gene: SPRTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SPRED1 | Rebecca Foulger reviewed gene: SPRED1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SPR | Rebecca Foulger reviewed gene: SPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | RSPRY1 | Rebecca Foulger reviewed gene: RSPRY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SRPX2 |
Rebecca Foulger gene: SRPX2 was added gene: SRPX2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SRPX2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SRPX2 were set to 16497722 Phenotypes for gene: SRPX2 were set to ROLANDIC EPILEPSY WITH SPEECH DYSPRAXIA AND MENTAL RETARDATION X-LINKED 300643 Mode of pathogenicity for gene: SRPX2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SPRTN |
Rebecca Foulger gene: SPRTN was added gene: SPRTN was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SPRTN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPRTN were set to PROGEROID SYNDROME Mode of pathogenicity for gene: SPRTN was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SPRED1 |
Rebecca Foulger gene: SPRED1 was added gene: SPRED1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPRED1 were set to 19366998; 17704776; 21649642; 19443465 Phenotypes for gene: SPRED1 were set to LEGIUS SYNDROME 611431 |
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| DDG2P v0.1 | SPR |
Rebecca Foulger gene: SPR was added gene: SPR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPR were set to 11443547 Phenotypes for gene: SPR were set to DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY 612716 |
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| DDG2P v0.1 | SOX10 |
Rebecca Foulger gene: SOX10 was added gene: SOX10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOX10 were set to 19764030; 10482261; 10762540; 11026454; 12447940 Phenotypes for gene: SOX10 were set to PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE 609136 |
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| DDG2P v0.1 | RSPRY1 |
Rebecca Foulger gene: RSPRY1 was added gene: RSPRY1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RSPRY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RSPRY1 were set to 26365341 Phenotypes for gene: RSPRY1 were set to PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA |
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| DDG2P v0.1 | PHOX2B |
Rebecca Foulger Added phenotypes NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE 613013 for gene: PHOX2B Publications for gene PHOX2B were changed from 12640453 to 15024693; 12438263; 16691592 |
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| DDG2P v0.1 | PHOX2B |
Rebecca Foulger gene: PHOX2B was added gene: PHOX2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PHOX2B were set to 12640453 Phenotypes for gene: PHOX2B were set to CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE 209880 Mode of pathogenicity for gene: PHOX2B was set to Other - please provide details in the comments |
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