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  3. FGF23
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Familial tumoral calcinosis

Gene: FGF23

Green List (high evidence)
FGF23 (fibroblast growth factor 23)
EnsemblGeneIds (GRCh38): ENSG00000118972
EnsemblGeneIds (GRCh37): ENSG00000118972
OMIM: 605380, Gene2Phenotype
FGF23 is in 9 panels

2 reviews

Ivone Leong (Genomics England Curator)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 5 Feb 2019, 3:08 p.m.
Comment on list classification: Promoted from red to green as per Martina Owen's (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust) initial gene rating. There are also >3 unrelated cases in OMIM.
Created: 17 Jan 2019, 9:36 a.m.
Created: 17 Jan 2019, 9:36 a.m.

Panel version: 0.11

Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993

Publications

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

Created: 16 Jan 2019, 10:44 a.m.

Panel version: 0.8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Tumoral calcinosis, hyperphosphatemic, familial, 2, OMIM:617993
OMIM
605380
Clinvar variants
Variants in FGF23
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: FGF23 were changed from Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993 to Tumoral calcinosis, hyperphosphatemic, familial, 2, OMIM:617993

17 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: fgf23 has been classified as Green List (High Evidence).

16 Jan 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: FGF23 were changed from Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900 to Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993

16 Jan 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: FGF23 were changed from to Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900

16 Jan 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: FGF23 was added gene: FGF23 was added to Familial tumoral calcinosis. Sources: NHS GMS Mode of inheritance for gene: FGF23 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FGF23 were set to 15590700