Renal Tubulopathies and related disorders

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

2 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Severe skeletal dysplasia where low phosphate is a feature.
Sources: Expert list
Created: 28 Nov 2022, 6:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Raine syndrome, MIM# 259775

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Severe skeletal dysplasia where low phosphate is a feature.
Sources: Expert list
Created: 8 Aug 2020, 4:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Raine syndrome, MIM# 259775

History Filter Activity

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FAM20C was added gene: FAM20C was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM20C were set to 32833257; 19250384; 20825432; 33676444; 32299476 Phenotypes for gene: FAM20C were set to MONDO:0009821; Raine syndrome, MIM# 259775