Amelogenesis imperfecta

Gene: ITGB6

Green List (high evidence)

ITGB6 (integrin subunit beta 6)
EnsemblGeneIds (GRCh38): ENSG00000115221
EnsemblGeneIds (GRCh37): ENSG00000115221
OMIM: 147558, Gene2Phenotype
ITGB6 is in 2 panels

2 reviews

Claire Smith (University of Leeds)

Green List (high evidence)

Currently on the Leeds AI diagnostic panel (Contact: Ruth Charlton). Patients with biallelic mutations in ITGB6 have either hypomineralised pitted enamel or hypoplastic enamel with a rough surface. More recently, a consanguineous family with a homozygous ITGB6 mutation with adolescent alopecia, intellectual disability and dentogingival abnormalities with rough, discoloured enamel was reported. However, it is unclear if these additional phenotypes result from the ITGB6 variant or are co-segregating, for example, due to an undetected copy number variant. The ITGB6 missense mutations identified so far lie within the β1 domain of the protein involved in binding to α integrin subunits, activity-modifying cations and ligands. Another patient has been reported with a homozygous ITGB6 nonsense mutation, but phenotyping of the enamel was complicated by the co-presence of a hemizygous Nance-Horan syndrome (congenital cataracts and dental anomalies) mutation (MIM *300457). See ITGB6 LOVD: http://dna2.leeds.ac.uk/LOVD/genes/ITGB6
3 Aug 2017, 2:24 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amelogenesis imperfecta, type IH 616221

Publications

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Marked as ready: August 16th 2017.
16 Aug 2017, 2:36 p.m.
Comment on list classification: Updated rating from Red to Green: Green expert review and on the Leeds diagnostic panel for AI. Plus 3 unrelated cases (a Hispanic girl, a Hispanic boy and 2 siblings in a Pakistani family) reported in OMIM and LOVD.
16 Aug 2017, 2:35 p.m.
Comment on mode of inheritance: Biallelic MOI supported by OMIM.
8 Jun 2017, 10:06 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • amelogenesis imperfecta (non-syndromic form)
  • Amelogenesis imperfecta, type IH, 616221
  • Amelogenesis imperfecta, type IH, 616221
OMIM
147558
Clinvar variants
Variants in ITGB6
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: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for ITGB6 were set to 24305999; 25431241; 24319098; 26695873

8 Jun 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for ITGB6 was changed to BIALLELIC, autosomal or pseudoautosomal

8 Jun 2017, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

ITGB6 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)

ITGB6 was added to Amelogenesis Imperfectapanel. Sources: Other

8 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

ITGB6 was created by rfoulger