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Amelogenesis imperfecta

Gene: KLK4

Green List (high evidence)
KLK4 (kallikrein related peptidase 4)
EnsemblGeneIds (GRCh38): ENSG00000167749
EnsemblGeneIds (GRCh37): ENSG00000167749
OMIM: 603767, Gene2Phenotype
KLK4 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least three families and a mouse model.
Created: 12 Aug 2021, 10:17 a.m. | Last Modified: 12 Aug 2021, 10:17 a.m.
Panel Version: 0.28

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amelogenesis imperfecta, type IIA1, MIM# 204700

Publications

Created: 12 Aug 2021, 10:17 a.m.
Last Modified: 12 Aug 2021, 10:17 a.m.
Panel version: 0.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Amelogenesis imperfecta, type IIA1, MIM# 204700
OMIM
603767
Clinvar variants
Variants in KLK4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: klk4 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: KLK4 were changed from Amelogenesis Imperfecta, Hypomaturation Type, IIA1, 204700; Amelogenesis imperfecta, type IIA1, 204700 to Amelogenesis imperfecta, type IIA1, MIM# 204700

12 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KLK4 were set to 15235027; 23355523; 26124219; 28611678

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: KLK4 was added gene: KLK4 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: KLK4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KLK4 were set to 15235027; 23355523; 26124219; 28611678 Phenotypes for gene: KLK4 were set to Amelogenesis Imperfecta, Hypomaturation Type, IIA1, 204700; Amelogenesis imperfecta, type IIA1, 204700