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Intellectual disability syndromic and non-syndromic

Gene: FGF3

Red List (low evidence)

FGF3 (fibroblast growth factor 3)
EnsemblGeneIds (GRCh38): ENSG00000186895
EnsemblGeneIds (GRCh37): ENSG00000186895
OMIM: 164950, Gene2Phenotype
FGF3 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Delay in gross motor skills thought to be related to balance issues, not truly ID.
Created: 3 Dec 2019, 3:49 a.m. | Last Modified: 3 Dec 2019, 3:49 a.m.
Panel Version: 0.232

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706
OMIM
164950
Clinvar variants
Variants in FGF3
Penetrance
None
Panels with this gene

History Filter Activity

3 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fgf3 has been classified as Red List (Low Evidence).

3 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FGF3 were changed from to Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706

3 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FGF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

3 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fgf3 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FGF3 was added gene: FGF3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FGF3 was set to Unknown