Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic

Gene: FGFR1

Red List (low evidence)

FGFR1 (fibroblast growth factor receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000077782
EnsemblGeneIds (GRCh37): ENSG00000077782
OMIM: 136350, Gene2Phenotype
FGFR1 is in 22 panels

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

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 CAKUT
Created: 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 CAKUT
Created: 27 Nov 2019, 11:25 p.m. | Last Modified: 27 Nov 2019, 11:25 p.m.
Panel Version: 0.0

History Filter Activity

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fgfr1 has been classified as Red List (Low Evidence).

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fgfr1 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FGFR1 was added gene: FGFR1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FGFR1 was set to Unknown