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  3. ITGB6
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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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 3 unrelated families reported.
Created: 12 Aug 2021, 8:31 a.m. | Last Modified: 12 Aug 2021, 8:31 a.m.
Panel Version: 0.26

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amelogenesis imperfecta, type IH, MIM# 616221

Publications

Created: 12 Aug 2021, 8:31 a.m.
Last Modified: 12 Aug 2021, 8:31 a.m.
Panel version: 0.26

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Amelogenesis imperfecta, type IH, MIM# 616221
OMIM
147558
Clinvar variants
Variants in ITGB6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: itgb6 has been classified as Green List (High Evidence).

12 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ITGB6 were changed from Amelogenesis imperfecta, type IH, 616221; amelogenesis imperfecta (non-syndromic form); Amelogenesis imperfecta, type IH, 616221 to Amelogenesis imperfecta, type IH, MIM# 616221

7 May 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ITGB6 was added gene: ITGB6 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ITGB6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITGB6 were set to 25431241; 26695873; 24305999; 24319098 Phenotypes for gene: ITGB6 were set to Amelogenesis imperfecta, type IH, 616221; amelogenesis imperfecta (non-syndromic form); Amelogenesis imperfecta, type IH, 616221