Skeletal dysplasia
Gene: FGFR1
Autosomal dominant with very rare reports of AR Hartsfield syndrome, carrier parents for AR variants were normal.
Kallman syndrome/Hypogonadotropic hypogonadism 2 with or without anosmia - LOF missense and PTCs (PMID: 18034870)
Hartsfield syndrome - LOF hom and het missense (PMID: 23812909). Carrier parents for AR variants were normal.
Craniosynostosis - mosaic GOF missense (PMID: 26942290).
Pfeiffer syndrome - Recurring p.P252R variant (OMIM)
Osteoglophonic dysplasia - GOF missense within the TM domain (PMID: 26942290).
Trigonocephaly/Jackson-Weiss syndrome - Single reports (OMIM)Created: 13 Nov 2020, 3:27 a.m. | Last Modified: 13 Nov 2020, 3:27 a.m.
Panel Version: 0.5357
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Encephalocraniocutaneous lipomatosis, somatic mosaic 613001; Hartsfield syndrome 615465; Hypogonadotropic hypogonadism 2 with or without anosmia 147950; Jackson-Weiss syndrome 123150; Osteoglophonic dysplasia 166250; Pfeiffer syndrome 101600; Trigonocephaly 1 190440
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
no human evidence in non-syndromic CAKUTCreated: 27 Nov 2019, 11:25 p.m. | Last Modified: 27 Nov 2019, 11:25 p.m.
Panel Version: 0.0
no evidence in non-syndromic CAKUTCreated: 27 Nov 2019, 11:25 p.m. | Last Modified: 27 Nov 2019, 11:25 p.m.
Panel Version: 0.0
gene: FGFR1 was added gene: FGFR1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FGFR1 were set to Hypogonadotropic hypogonadism 2 with or without anosmia 147950; Hartsfield syndrome 615465; Osteoglophonic dysplasia 166250; Pfeiffer syndrome 101600; Encephalocraniocutaneous lipomatosis, somatic mosaism 613001; Jackson-Weiss syndrome 123150; Trigonocephaly 1 190440