Amelogenesis imperfecta

Gene: AMBN

Green List (high evidence)

Two families reported with bi-allelic variants, one family reported with mono-allelic missense variant. Mouse model supports gene-disease association. Borderline Amber/Green for bi-allelic variants, Red for mono-allelic variants.

Created: 11 Aug 2021, 11:43 p.m. | Last Modified: 11 Aug 2021, 11:43 p.m.

Panel Version: 0.4

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Amelogenesis imperfecta, type IF MIM#616270

Publications

• 31402633
• 30174330

Green List (high evidence)

A homozygous 2,347-bp deletion identified in 3 sisters with hypoplastic amelogenesis imperfecta from a consanguineous Costa Rican family. The deletion encompass all 237 basepairs of the exon 6 and 2,110 basepairs of flanking sequence on either side of the exon. The deletion was predicted to create an in-frame deletion of 79 amino acids (Tyr99_Glu177del), shortening the protein from 447 to 368 amino acids (PMID: 24858907).

A homozygous splice site mutation (c.532-1G-C) identified in 2 sisters with hypoplastic amelogenesis imperfecta (PMID: 26502894).

Created: 16 Jun 2021, 1:32 a.m. | Last Modified: 16 Jun 2021, 1:32 a.m.

Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amelogenesis imperfecta, type IF MIM#616270

Publications

• PMID: 24858907
• 26502894