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DDG2P

Gene: FAM20A

Green List (high evidence)

FAM20A (FAM20A, golgi associated secretory pathway pseudokinase)
EnsemblGeneIds (GRCh38): ENSG00000108950
EnsemblGeneIds (GRCh37): ENSG00000108950
OMIM: 611062, Gene2Phenotype
FAM20A is in 8 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed.
Created: 19 Nov 2018, 11:29 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME 614253
OMIM
611062
Clinvar variants
Variants in FAM20A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: FAM20A was added gene: FAM20A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FAM20A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM20A were set to 21549343 Phenotypes for gene: FAM20A were set to AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME 614253