Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: FGFR1EnsemblGeneIds (GRCh38): ENSG00000077782
EnsemblGeneIds (GRCh37): ENSG00000077782
OMIM: 136350, Gene2Phenotype
FGFR1 is in 22 panels
2 reviews
Elena Savva (Victorian Clinical Genetics Services)
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
Chirag Patel (Genetic Health Queensland)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Hypogonadotropic hypogonadism 2 with or without anosmia 147950
- OMIM
- 136350
- Clinvar variants
- Variants in FGFR1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Calcium and Phosphate disorders
- Polydactyly
- Clefting disorders
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Pituitary hormone deficiency
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Differences of Sex Development
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Hydrocephalus_Ventriculomegaly
- Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
- Craniosynostosis
- Holoprosencephaly and septo-optic dysplasia
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Mosaic skin disorders
- Mendeliome
- Callosome
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: fgfr1 has been classified as Green List (High Evidence).
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: FGFR1 were changed from to Hypogonadotropic hypogonadism 2 with or without anosmia 147950
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: FGFR1 were set to
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: FGFR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)gene: FGFR1 was added gene: FGFR1 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: FGFR1 was set to