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Intellectual disability syndromic and non-syndromic

Gene: FGFR3

Green List (high evidence)

FGFR3 (fibroblast growth factor receptor 3)
EnsemblGeneIds (GRCh38): ENSG00000068078
EnsemblGeneIds (GRCh37): ENSG00000068078
OMIM: 134934, Gene2Phenotype
FGFR3 is in 21 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Developmental delay and/or mental retardation can be a feature of patients with CATSHL syndrome, Hypochondroplasia, Muenke syndrome and SADDAN 616482. Survivors of Thanatophoric dysplasia, type I 187600 have Profound mental retardation and hypotonia.
Created: 3 Feb 2020, 2:16 a.m. | Last Modified: 3 Feb 2020, 2:16 a.m.
Panel Version: 0.1940

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
CATSHL syndrome 610474; Hypochondroplasia 146000; SADDAN 616482; Muenke syndrome 602849; Thanatophoric dysplasia, type I 187600

History Filter Activity

3 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fgfr3 has been classified as Green List (High Evidence).

3 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FGFR3 were changed from to CATSHL syndrome 610474; Hypochondroplasia 146000; SADDAN 616482; Muenke syndrome 602849; Thanatophoric dysplasia, type I 187600

3 Feb 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FGFR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FGFR3 was added gene: FGFR3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FGFR3 was set to Unknown