Genomics England
GMS Panels
Panels
Genes and Entities

FAM20A

FAM20A, golgi associated secretory pathway pseudokinase
OMIM: 611062
PanelMode of inheritanceDetails
4 panels
Green
in Amelogenesis imperfecta
R-numbers: R340
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690, Amelogenesis Imperfecta, Type IG, 204690, Hypomieralised AI
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME 614253
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME
Green
in Nephrocalcinosis or nephrolithiasis
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R256
Signed-off version 4.16
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Amelogenesis imperfecta, type IG (enamel-renal syndrome) 204690