Osteopetrosis
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

Eleanor Williams (Genomics England Curator)

This gene has been added to the panel as green on the recommendation of GMS specialist disease group experts.
Created: 20 Aug 2020, 4:32 p.m. | Last Modified: 20 Aug 2020, 4:32 p.m.

Panel Version: 0.3

Created: 20 Aug 2020, 4:32 p.m.
Last Modified: 20 Aug 2020, 4:32 p.m.
Panel version: 0.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Raine syndrome OMIM:259775

OMIM

611061

Clinvar variants

Variants in FAM20C

Penetrance

None

Panels with this gene

History Filter Activity

15 Mar 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: FAM20C were changed from Raine syndrome 259775 to Raine syndrome OMIM:259775

20 Aug 2020, Gel status: 3

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

Catherine Snow (Genomics England)

gene: FAM20C was added gene: FAM20C was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM20C were set to Raine syndrome 259775

Osteopetrosis Gene: FAM20C