Craniosynostosis

Gene: FAM20C

Green List (high evidence)

FAM20C (FAM20C, golgi associated secretory pathway kinase)
EnsemblGeneIds (GRCh38): ENSG00000177706
EnsemblGeneIds (GRCh37): ENSG00000177706
OMIM: 611061, Gene2Phenotype
FAM20C is in 12 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Osteosclerotic bone dysplasia with increased skull ossification. 2 unrelated cases with missense variants survived beyond infancy and had turribrachycephaly, one also had plagiocephaly - 1 of the 2 cases in Simpson (2009) definitely had CSS as it was an Oxford case. The other has cranial remodelling so also likely CSS. AW aware of several unpublished cases with CSS. Amber or even green - its an important diagnosis to make. ; Review on behalf of Tracy Lester/Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Raine syndrome

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Upgrading from red to green. Green rating agreed at the GMS musculoskeletal specialist test group Webex on 2019-05-13. Andrew Wilkie of Wessex and West Midlands GLH confirmed several unpublished cases.
Created: 21 May 2019, 12:20 p.m.
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: FAM20C; Suggested initial gene rating: green
Created: 5 Mar 2019, 11:21 a.m.

Andrew Wilkie (University of Oxford)

Red List (low evidence)

Single case of craniosynostosis in non-lethal presentation
Created: 14 Sep 2015, 1:01 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Raine syndrome

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Raine syndrome 259775
OMIM
611061
Clinvar variants
Variants in FAM20C
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 May 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

21 May 2019, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: FAM20C was changed from to BIALLELIC, autosomal or pseudoautosomal

21 May 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: fam20c has been classified as Green List (High Evidence).

2 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: FAM20C were changed from to Raine syndrome

2 May 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: FAM20C were set to

5 Mar 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to FAM20C.

1 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

27 Jul 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

FAM20C was added to Craniosynostosis syndromespanel. Sources: Expert list