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Fetal anomalies

Gene: FGF10

Green List (high evidence)

FGF10 (fibroblast growth factor 10)
EnsemblGeneIds (GRCh38): ENSG00000070193
EnsemblGeneIds (GRCh37): ENSG00000070193
OMIM: 602115, Gene2Phenotype
FGF10 is in 8 panels

1 review

Natalie Tan (Victorian Clinical Genetics Services)

Green List (high evidence)

Multiple unrelated individuals with heterozygous variants reported in association with LADD syndrome, which manifests variable radial ray features. Allelic condition: aplasia of lacrimal and salivary glands.
Sources: NHS GMS
Created: 22 Jul 2020, 7:15 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lacrimoauriculodentodigital syndrome (149730); Aplasia of lacrimal and salivary glands (180920)

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Lacrimoauriculodentodigital syndrome (149730)
OMIM
602115
Clinvar variants
Variants in FGF10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fgf10 has been classified as Green List (High Evidence).

21 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FGF10 were changed from LADD SYNDROME to Lacrimoauriculodentodigital syndrome (149730)

21 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FGF10 were set to

21 Dec 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FGF10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FGF10 was added gene: FGF10 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: FGF10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGF10 were set to LADD SYNDROME