1. Panels
  2. Microcephaly
  3. FAM20C
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Microcephaly

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 22 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Microcephaly is present in ~36% of reported cases.
Sources: Literature
Created: 27 Sep 2024, 7:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
lethal osteosclerotic bone dysplasia MONDO:0009821

Publications

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

Created: 27 Sep 2024, 7:38 a.m.

Panel version: 1.279

History Filter Activity

27 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

27 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

27 Sep 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: FAM20C was added gene: FAM20C was added to Microcephaly. Sources: Literature Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM20C were set to 34360805 Phenotypes for gene: FAM20C were set to lethal osteosclerotic bone dysplasia MONDO:0009821 Review for gene: FAM20C was set to GREEN gene: FAM20C was marked as current diagnostic