Amelogenesis imperfecta
Gene: AMBNComment when marking as ready: Marked as Ready: 4th September 2017.Created: 4 Sep 2017, 12:13 p.m.
Added 'CNV' tag based on email correspondance from Claire Smith confirming a third case (a CNV).Created: 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).Created: 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.Created: 16 Aug 2017, 2:13 p.m.
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/AMBNCreated: 3 Aug 2017, 1:47 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Amelogenesis imperfecta, type IF 616270
Publications
This panel has been promoted after review by Claire Smith (Leeds) and further personal consultation with Dr Smith
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for AMBN were set to 24858907; 26502894
AMBN was added to Amelogenesis Imperfectapanel. Source: Other Model of inheritance for gene AMBN was set to BIALLELIC, autosomal or pseudoautosomal
AMBN was added to Amelogenesis Imperfectapanel. Sources: Radboud University Medical Center, Nijmegen
AMBN was created by rfoulger