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Fetal anomalies

Gene: FGF4

Amber List (moderate evidence)

FGF4 (fibroblast growth factor 4)
EnsemblGeneIds (GRCh38): ENSG00000075388
EnsemblGeneIds (GRCh37): ENSG00000075388
OMIM: 164980, Gene2Phenotype
FGF4 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families with three affected individuals reported with homozygous variants in FGF4.

Family 1 - Consanguineous parents with five children. Three are unaffected and two are affected with Jeune syndrome - like phenotypes. One of the affected siblings is deceased.
Proband was diagnosed with pulmonary hypoplasia at 6 months and later identified to have Jeune Syndrome due to other findings.
Homozygous p.Leu86Phe missense variant was identified (variant absent from gnomAD v4.1)

Family 2 - Non-consanguineous parents with affected son with Jeune syndrome like phenotype (pulmonary hypoplasia and thoracic dystrophy)
Homozygous p.Pro204His missense variant was identified (variant absent from gnomAD v4.1)
Sources: Literature
Created: 21 May 2025, 11:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Jeune Syndrome, FGF4-related, MONDO:0018770

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Jeune Syndrome, FGF4-related, MONDO:0018770
OMIM
164980
Clinvar variants
Variants in FGF4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 May 2025, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fgf4 has been classified as Amber List (Moderate Evidence).

21 May 2025, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fgf4 has been classified as Amber List (Moderate Evidence).

21 May 2025, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FGF4 was added gene: FGF4 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: FGF4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FGF4 were set to 40259859 Phenotypes for gene: FGF4 were set to Jeune Syndrome, FGF4-related, MONDO:0018770 Review for gene: FGF4 was set to AMBER