DDG2P
Gene: FGFR1
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).Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 6 Oct 2023, 9:28 a.m.
Panel Version: 3.14
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Publications
Mosaicism tag added: In DD-G2P download, mosaic MOI listed for Encephalocraniocutaneous lipomatosis.Created: 19 Nov 2018, 1:20 p.m.
Original DDG2P rating: confirmed (for all listed disorders). Multiple MOPs in DD-G2P download: activating, dominant negative, loss of function. Multiple MOIs in DD-G2P download: monoallelic and mosaic.Created: 19 Nov 2018, 11:29 a.m.
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
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
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
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
Rebecca Foulger: Original DDG2P rating: confirm
Tag mosaicism tag was added to gene: FGFR1.
Added phenotypes Hartsfield syndrome for gene: FGFR1 Publications for gene FGFR1 were changed from 26942290 to 23812909
Added phenotypes Encephalocraniocutaneous lipomatosis for gene: FGFR1 Publications for gene FGFR1 were changed from 12627230 to 26942290
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
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
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
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