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  3. FGF10
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Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic

Gene: FGF10

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Heterozygous FGF10 loss of function variants cause a clinical spectrum including aplasia of lacrimal and salivary glands (ALSG) and lacrimoauriculodentodigital (LADD) Syndrome. At least 10 families reported and supporting mouse models. Both CNVs and SNVs reported.
Created: 21 Apr 2022, 4:44 a.m. | Last Modified: 21 Apr 2022, 4:44 a.m.
Panel Version: 0.13138

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
congenital alveolar dysplasia due to FGF10 MONDO:0100090; acinar dysplasia caused by mutation in FGF10 MONDO:0600017

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 21 Apr 2022, 4:44 a.m.
Last Modified: 21 Apr 2022, 4:44 a.m.
Panel version: Imported from Mendeliome panel version 0.13138

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

Not a prominent features of this syndrome
Created: 16 Jan 2020, 3:50 a.m. | Last Modified: 16 Jan 2020, 3:50 a.m.
Panel Version: 0.41

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
LADD syndrome; OMIM #149730

Created: 16 Jan 2020, 3:50 a.m.
Last Modified: 16 Jan 2020, 3:50 a.m.
Panel version: 0.41

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • LADD syndrome
  • OMIM #149730
OMIM
602115
Clinvar variants
Variants in FGF10
Penetrance
None
Panels with this gene

History Filter Activity

16 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FGF10 were changed from LADD syndrome; OMIM #149730 to LADD syndrome; OMIM #149730

16 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fgf10 has been classified as Red List (Low Evidence).

16 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FGF10 were changed from to LADD syndrome; OMIM #149730

16 Jan 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: fgf10 has been classified as Red List (Low Evidence).

16 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: fgf10 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: FGF10 was added gene: FGF10 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FGF10 was set to Unknown