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Research panel - Severe Paediatric Disorders

Gene: FGFR3

Green List (high evidence)
FGFR3 (fibroblast growth factor receptor 3)
EnsemblGeneIds (GRCh38): ENSG00000068078
EnsemblGeneIds (GRCh37): ENSG00000068078
OMIM: 134934, Gene2Phenotype
FGFR3 is in 24 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: FGFR3; Recommended initial gene rating: Green List (high evidence); Phenotypes: Achondroplasia, 100800 (3) | CATSHL syndrome, 610474 (3) | Crouzon syndrome with acanthosis nigricans, 612247 (3) | Hypochondroplasia, 146000 (3) | LADD syndrome, 149730 (3) | Muenke syndrome, 602849 (3) | SADDAN, 616482 (3) | Thanatophoric dysplasia, type I, 187600 (3) | Thanatophoric dysplasia, type II, 187601 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive, Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:19 p.m.
Last Modified: 20 Feb 2020, 5:19 p.m.
Panel version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Thanatophoric dysplasia, type II, 187601
  • Muenke syndrome, 602849
  • SADDAN, 616482
  • Crouzon syndrome with acanthosis nigricans, 612247
  • CATSHL syndrome, 610474
  • Achondroplasia, 100800
  • LADD syndrome, 149730
  • Thanatophoric dysplasia, type I, 187600
  • Hypochondroplasia, 146000
OMIM
134934
Clinvar variants
Variants in FGFR3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene FGFR3 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Thanatophoric dysplasia, type II, 187601; Muenke syndrome, 602849; SADDAN, 616482; Crouzon syndrome with acanthosis nigricans, 612247; CATSHL syndrome, 610474; Achondroplasia, 100800; LADD syndrome, 149730; Thanatophoric dysplasia, type I, 187600; Hypochondroplasia, 146000 for gene: FGFR3

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Thanatophoric dysplasia, type II, 187601; Muenke syndrome, 602849; SADDAN, 616482; Crouzon syndrome with acanthosis nigricans, 612247; CATSHL syndrome, 610474; Achondroplasia, 100800; LADD syndrome, 149730; Thanatophoric dysplasia, type I, 187600; Hypochondroplasia, 146000 for gene: FGFR3

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Thanatophoric dysplasia, type II, 187601; Muenke syndrome, 602849; SADDAN, 616482; Crouzon syndrome with acanthosis nigricans, 612247; CATSHL syndrome, 610474; Achondroplasia, 100800; LADD syndrome, 149730; Thanatophoric dysplasia, type I, 187600; Hypochondroplasia, 146000 for gene: FGFR3

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Achondroplasia, 100800; Muenke syndrome, 602849; SADDAN, 616482; Hypochondroplasia, 146000; LADD syndrome, 149730; Crouzon syndrome with acanthosis nigricans, 612247; Thanatophoric dysplasia, type I, 187600; CATSHL syndrome, 610474; Thanatophoric dysplasia, type II, 187601 for gene: FGFR3

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to FGFR3.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to FGFR3. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: FGFR3 was added gene: FGFR3 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: FGFR3 was set to