Amelogenesis imperfecta

Gene: AMBN

Green List (high evidence)

AMBN (ameloblastin)
EnsemblGeneIds (GRCh38): ENSG00000178522
EnsemblGeneIds (GRCh37): ENSG00000178522
OMIM: 601259, Gene2Phenotype
AMBN is in 1 panel

2 reviews

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Marked as Ready: 4th September 2017.
4 Sep 2017, 12:13 p.m.
Added 'CNV' tag based on email correspondance from Claire Smith confirming a third case (a CNV).
4 Sep 2017, 12:13 p.m.
Comment on list classification: Updated rating from Amber to Green based on email correspondance with Claire Smith who confirmed a third case - a CNV (homozygous duplication of AMBN exons 7-11, exact breakpoints not yet defined).
4 Sep 2017, 12:12 p.m.
Comment on list classification: Updated rating from Red to Amber awaiting further clinical input: Green expert review and on Leeds diagnostic panel but only 2 cases reported to-date.
16 Aug 2017, 2:13 p.m.

Claire Smith (University of Leeds)

Green List (high evidence)

Currently on the Leeds AI diagnostic panel (Contact: Ruth Charlton). Only two mutations have been reported in AMBN in AI patients, both discovered through Next Generation Sequencing (NGS). The first AMBN mutation reported, a large, in-frame deletion encompassing exon 6, segregated with recessive hypoplastic AI in a consanguineous Costa Rican family identified using whole exome sequencing. The second homozygous mutation, thought to alter splicing, was identified in one patient in a large cohort with oro-dental disease, using a targeted NGS assay. See AMBN LOVD: http://dna2.leeds.ac.uk/LOVD/genes/AMBN
3 Aug 2017, 1:47 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amelogenesis imperfecta, type IF 616270

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Amelogenesis imperfecta, type IF, 616270
Tags
cnv
OMIM
601259
Clinvar variants
Variants in AMBN
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

4 Sep 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).

4 Sep 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

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Amber List (Moderate Evidence).

16 Aug 2017, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for AMBN were set to 24858907; 26502894

8 Jun 2017, Gel status: 1

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

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

8 Jun 2017, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

AMBN was added to Amelogenesis Imperfectapanel. Sources: Radboud University Medical Center, Nijmegen

8 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

AMBN was created by rfoulger