Hypophosphataemia or rickets
Gene: FAM20C

FAM20C (FAM20C, golgi associated secretory pathway kinase)
EnsemblGeneIds (GRCh38): ENSG00000177706
EnsemblGeneIds (GRCh37): ENSG00000177706
OMIM: 611061, Gene2Phenotype
FAM20C is in 13 panels

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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: 29 Jan 2019, 11:45 a.m.

Comment on list classification: Promoted from red to green based on previous comment.
Created: 4 Dec 2018, 11:07 a.m.

Both OMIM and Gene2Phenotype confirms that FAM20C is associated with Raine syndrome. There are >3 unrelated families with affected members diagnosed with Rain syndrome with different variants in FAM20C. FAM20C is a green gene on the Skeletal dysplasia (Version 1.129).
Created: 30 Nov 2018, 2:57 p.m.

Publications

Created: 30 Nov 2018, 2:57 p.m.

Panel version: 0.34

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Emory Genetics Laboratory
Expert list
Literature

Phenotypes

Raine syndrome (259775)

OMIM

611061

Clinvar variants

Variants in FAM20C

Penetrance

None

Publications

Panels with this gene