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| DDG2P v3.39 | FGFR1 | Achchuthan Shanmugasundram Phenotypes for gene: FGFR1 were changed from Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950; Encephalocraniocutaneous lipomatosis, OMIM:613001; PFEIFFER SYNDROME, OMIM:101600; OSTEOGLOPHONIC DYSPLASIA, OMIM:166250; Hartsfield syndrome, OMIM:615465 to Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950; Encephalocraniocutaneous lipomatosis, OMIM:613001; PFEIFFER SYNDROME, OMIM:101600; OSTEOGLOPHONIC DYSPLASIA, OMIM:166250; Hartsfield syndrome, OMIM:615465 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.39 | FGFR1 | Achchuthan Shanmugasundram Phenotypes for gene: FGFR1 were changed from PFEIFFER SYNDROME 101600; OSTEOGLOPHONIC DYSPLASIA 166250; Hartsfield syndrome 615465; KALLMANN SYNDROME TYPE 2 147950; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110; Encephalocraniocutaneous lipomatosis 613001 to Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950; Encephalocraniocutaneous lipomatosis, OMIM:613001; PFEIFFER SYNDROME, OMIM:101600; OSTEOGLOPHONIC DYSPLASIA, OMIM:166250; Hartsfield syndrome, OMIM:615465 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.14 | FGFR1 |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Encephalocraniocutaneous lipomatosis, OMIM:613001 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:26942290). The DDG2P confidence category for the disease Hartsfield syndrome, OMIM:615465 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:23812909). The DDG2P confidence category for the disease PFEIFFER SYNDROME, OMIM:101600 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 10945669;9586546;7719345;9002682;8841188;8434615;10394936;15523615;7874169;11807866;9150725). The DDG2P confidence category for the disease OSTEOGLOPHONIC DYSPLASIA, OMIM:166250 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 15625620;7422392). The DDG2P confidence category for the disease Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 16606836;18596921;16882753;10690855;23643382;17235395;16418210;17360555;12627230).; to: The DDG2P confidence category for the disease Encephalocraniocutaneous lipomatosis, OMIM:613001 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically mosaic respectively (PMID:26942290). The DDG2P confidence category for the disease Hartsfield syndrome, OMIM:615465 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:23812909). The DDG2P confidence category for the disease PFEIFFER SYNDROME, OMIM:101600 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 10945669;9586546;7719345;9002682;8841188;8434615;10394936;15523615;7874169;11807866;9150725). The DDG2P confidence category for the disease OSTEOGLOPHONIC DYSPLASIA, OMIM:166250 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 15625620;7422392). The DDG2P confidence category for the disease Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 16606836;18596921;16882753;10690855;23643382;17235395;16418210;17360555;12627230). |
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| DDG2P v3.12 | FGFR1 | Achchuthan Shanmugasundram reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11807866, 15523615, 10394936, 7874169, 15625620, 26942290, 10690855, 7719345, 17235395, 8434615, 7422392, 16606836, 8841188, 23643382, 16882753, 17360555, 18596921, 23812909, 9150725, 16418210, 9002682, 12627230, 10945669, 9586546; Phenotypes: Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950, Encephalocraniocutaneous lipomatosis, OMIM:613001, PFEIFFER SYNDROME, OMIM:101600, OSTEOGLOPHONIC DYSPLASIA, OMIM:166250, Hartsfield syndrome, OMIM:615465; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | FGFR1 | Achchuthan Shanmugasundram Publications for gene: FGFR1 were updated from 23812909 to 11807866; 15523615; 10394936; 7874169; 15625620; 26942290; 10690855; 7719345; 17235395; 8434615; 7422392; 16606836; 8841188; 23643382; 16882753; 17360555; 18596921; 23812909; 9150725; 16418210; 9002682; 12627230; 10945669; 9586546 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.92 | FGFR1 | Rebecca Foulger Phenotypes for gene: FGFR1 were changed from PFEIFFER SYNDROME 101600; OSTEOGLOPHONIC DYSPLASIA 166250; Hartsfield syndrome; KALLMANN SYNDROME TYPE 2 147950; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110; Encephalocraniocutaneous lipomatosis to PFEIFFER SYNDROME 101600; OSTEOGLOPHONIC DYSPLASIA 166250; Hartsfield syndrome 615465; KALLMANN SYNDROME TYPE 2 147950; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110; Encephalocraniocutaneous lipomatosis 613001 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.3 | FGFR1 | Rebecca Foulger Tag mosaicism tag was added to gene: FGFR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.3 | FGFR1 | Rebecca Foulger commented on gene: FGFR1: Mosaicism tag added: In DD-G2P download, mosaic MOI listed for Encephalocraniocutaneous lipomatosis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FGFR1 | Rebecca Foulger reviewed gene: FGFR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FGFR1 |
Rebecca Foulger Added phenotypes Hartsfield syndrome for gene: FGFR1 Publications for gene FGFR1 were changed from 26942290 to 23812909 |
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| DDG2P v0.1 | FGFR1 |
Rebecca Foulger Added phenotypes Encephalocraniocutaneous lipomatosis for gene: FGFR1 Publications for gene FGFR1 were changed from 12627230 to 26942290 |
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| DDG2P v0.1 | FGFR1 |
Rebecca Foulger Added phenotypes IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110 for gene: FGFR1 Publications for gene FGFR1 were changed from 9586546; 9150725; 11807866; 8434615; 9002682; 10945669; 7874169; 8841188; 7719345; 10394936; 15523615 to 12627230 |
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| DDG2P v0.1 | FGFR1 |
Rebecca Foulger Added phenotypes PFEIFFER SYNDROME 101600 for gene: FGFR1 Publications for gene FGFR1 were changed from 16606836; 17235395; 12627230; 10690855; 16882753; 16418210; 23643382; 18596921; 17360555 to 9586546; 9150725; 11807866; 8434615; 9002682; 10945669; 7874169; 8841188; 7719345; 10394936; 15523615 |
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| DDG2P v0.1 | FGFR1 |
Rebecca Foulger Added phenotypes KALLMANN SYNDROME TYPE 2 147950 for gene: FGFR1 Publications for gene FGFR1 were changed from 7422392; 15625620 to 16606836; 17235395; 12627230; 10690855; 16882753; 16418210; 23643382; 18596921; 17360555 |
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| DDG2P v0.1 | FGFR1 |
Rebecca Foulger gene: FGFR1 was added gene: FGFR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FGFR1 were set to 7422392; 15625620 Phenotypes for gene: FGFR1 were set to OSTEOGLOPHONIC DYSPLASIA 166250 |
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