Amelogenesis imperfecta

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 5 panels

2 reviews

Claire Smith (University of Leeds)

Green List (high evidence)

Currently on the Leeds AI diagnostic panel (Contact: Ruth Charlton). Associated with hypomieralised AI. Distinctive glassy incisors often result from FAM20A mutations. Gingival overgrowth is nearly always also seen. There are a variety of associated oral defects that may include delayed tooth eruption, hyperplastic dental follicles, pulp stones and gingival overgrowth with ectopic calcification. Calcification of other organs, most frequently nephrocalcinosis, is variably reported. This may be due to a combination of age, genetic modifiers, and exposure to Ca2+ channel blocking drugs. Monitoring of kidney function throughout life is necessary. Majority of mutations identified to date are nonsense, frameshift or splicing variants, but missense mutations have also been identified. FAM20A accounts for around 15% of the AI cases reported to date. See FAM20A LOVD: http://dna2.leeds.ac.uk/LOVD/genes/FAM20A
2 Aug 2017, 3 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amelogenesis imperfecta, type IG (enamel-renal syndrome) 204690

Publications

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Marked as ready: August 16th 2017.
16 Aug 2017, 8:47 a.m.
Comment on list classification: Updated rating from Amber to Green: Green expert review and on the Leeds diagnostic panel. Plus confirmed AI gene in DD-G2P. Plus sufficient cases (>3) to support causation.
16 Aug 2017, 8:47 a.m.
Comment on mode of inheritance: Biallelic MOI confirmed by OMIM and G2P.
8 Jun 2017, 10:05 a.m.
Confirmed DD-G2P gene for MIM:204690.
8 Jun 2017, 10:05 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690
  • Amelogenesis Imperfecta, Type IG, 204690
  • Hypomieralised AI
OMIM
611062
Clinvar variants
Variants in FAM20A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Feb 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been promoted after review by Claire Smith (Leeds) and further personal consultation with Dr Smith

16 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

16 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

16 Aug 2017, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for FAM20A were set to Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690; Amelogenesis Imperfecta, Type IG, 204690; Hypomieralised AI

16 Aug 2017, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for FAM20A were set to 21990045; 24756937; 23697977; 23434854; 24259279; 24196488; 21549343; 23468644; 26502894; 25827751

8 Jun 2017, Gel status: 2

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for FAM20A was changed to BIALLELIC, autosomal or pseudoautosomal

8 Jun 2017, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for FAM20A were set to Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690; Amelogenesis Imperfecta, Type IG, 204690

8 Jun 2017, Gel status: 2

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

FAM20A was added to Amelogenesis Imperfectapanel. Source: UKGTN Model of inheritance for gene FAM20A was set to BIALLELIC, autosomal or pseudoautosomal

8 Jun 2017, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

FAM20A was added to Amelogenesis Imperfectapanel. Source: Radboud University Medical Center, Nijmegen

8 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

FAM20A was added to Amelogenesis Imperfectapanel. Sources: Eligibility statement prior genetic testing

8 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

FAM20A was created by rfoulger