Amelogenesis imperfecta

Gene: ACP4

Green List (high evidence)

ACP4 (acid phosphatase 4)
EnsemblGeneIds (GRCh38): ENSG00000142513
EnsemblGeneIds (GRCh37): ENSG00000142513
OMIM: 606362, Gene2Phenotype
ACP4 is in 2 panels

1 review

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

6 consanguineous, apparently unrelated Turkish families with generalized hypoplastic amelogenesis imperfecta and identified homozygous or compound heterozygous mutations in the ACPT gene that segregated with the disorder in the families. In silico analysis of the tertiary structure of the ACPT extracellular domain showed that the mutations would affect the activity of ACPT by altering the sizes and charges of key amino acid side chains, limiting accessibility of the catalytic core, and interfering with homodimerization (PMID: 27843125).

ACPT gene is inactivated in mammalian lineages that lack enamel or teeth (PMID: 33552707).
Created: 16 Jun 2021, 12:43 a.m. | Last Modified: 16 Jun 2021, 12:43 a.m.
Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amelogenesis imperfecta, type IJ MIM#617297

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Amelogenesis imperfecta, type IJ, MIM#617297
  • hypoplastic amelogenesis imperfecta
OMIM
606362
Clinvar variants
Variants in ACP4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: acp4 has been classified as Green List (High Evidence).

11 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ACP4 were changed from Amelogenesis imperfecta, type IJ, 617297; hypoplastic amelogenesis imperfecta to Amelogenesis imperfecta, type IJ, MIM#617297; hypoplastic amelogenesis imperfecta

11 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ACP4 were set to 28513613; 27843125

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: ACP4 was added gene: ACP4 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ACP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACP4 were set to 28513613; 27843125 Phenotypes for gene: ACP4 were set to Amelogenesis imperfecta, type IJ, 617297; hypoplastic amelogenesis imperfecta