Arthrogryposis
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

Alice Gardham (Genomics England)

Green List (high evidence)

Arthrogryposis is a rare feature of Raine syndrome
Created: 4 Jan 2017, 3:52 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Raine syndrome 259775

Publications

Created: 4 Jan 2017, 3:52 p.m.

Panel version: 1.190

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature
Radboud University Medical Center, Nijmegen
Expert list

Phenotypes

Raine syndrome 259775

OMIM

611061

Clinvar variants

Variants in FAM20C

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

4 Jan 2017, Gel status: 4