Amelogenesis imperfecta

Gene: ENAM

Green List (high evidence)

ENAM (enamelin)
EnsemblGeneIds (GRCh38): ENSG00000132464
EnsemblGeneIds (GRCh37): ENSG00000132464
OMIM: 606585, Gene2Phenotype
ENAM is in 1 panel

2 reviews

Claire Smith (University of Leeds)

Green List (high evidence)

Currently on the Leeds AI diagnostic panel (Contact: Ruth Charlton). Recessive inheritance has been reported, but patients with heterozygous variants in the one family reported with recessive inheritance had disease, just in a different form. ENAM variants are associated with a hypoplastic phenotype. Majority of variants reported to date as nonsense and frameshifts but small in frame deletions and missense variants have also been identified. See ENAM LOVD: http://dna2.leeds.ac.uk/LOVD/genes/ENAM
13 Jun 2017, 3:32 p.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Amelogenesis imperfecta, type IB 104500; Amelogenesis imperfecta, type IC 204650

Publications

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

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Marked ENAM as ready: July 25th 2017.
25 Jul 2017, 12:43 p.m.
Comment on list classification: Kept rating as Green: Expert green review plus gene on Leeds diagnostic panel. Listed for prior genetic testing in eligibility statement. Plus >3 unrelated cases (OMIM and LOVD) to support disease causation.
25 Jul 2017, 12:43 p.m.
Comment on mode of inheritance: Adjusted MOI to match review from Claire Smith, and include info that homozygotes have a more severe disease form.
15 Jun 2017, 11:52 a.m.
Comment on mode of inheritance: Taken from OMIM: Type IB AI has dominant inheritance, Type IC AI has recessive inheritance.
15 Jun 2017, 11:49 a.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Amelogenesis imperfecta, type IB, 104500
  • Amelogenesis imperfecta, type IC, 204650
  • Amelogenesis Imperfecta, Dominant
  • autosomal recessive amelogenesis imperfecta
OMIM
606585
Clinvar variants
Variants in ENAM
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

25 Jul 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).

25 Jul 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).

15 Jun 2017, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for ENAM were set to Amelogenesis imperfecta, type IB, 104500; Amelogenesis imperfecta, type IC, 204650; Amelogenesis Imperfecta, Dominant; autosomal recessive amelogenesis imperfecta

15 Jun 2017, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for ENAM were set to 22029166; 22540999; 11978766; 15723871; 25143514; 11487571; 21597265; 17316551; 12407086; 20439930; 16246937; 14684688; 19329462; 25769099; 26502894; 28334996

15 Jun 2017, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for ENAM were set to Amelogenesis imperfecta, type IB, 104500; Amelogenesis imperfecta, type IC, 204650; Amelogenesis Imperfecta, Dominant

15 Jun 2017, Gel status: 3

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for ENAM was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

8 Jun 2017, Gel status: 3

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for ENAM was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

8 Jun 2017, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for ENAM were set to ; Amelogenesis imperfecta, type IB, 104500; Amelogenesis imperfecta, type IC, 204650; Amelogenesis Imperfecta, Dominant

8 Jun 2017, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

ENAM was added to Amelogenesis Imperfectapanel. Source: Illumina TruGenome Clinical Sequencing Services

8 Jun 2017, Gel status: 2

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

ENAM was added to Amelogenesis Imperfectapanel. Source: UKGTN Model of inheritance for gene ENAM was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

8 Jun 2017, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

ENAM 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)

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

8 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

ENAM was created by rfoulger