Amelogenesis imperfecta

Gene: ACP4

Green List (high evidence)

ACP4 (acid phosphatase 4)
EnsemblGeneIds (GRCh38): ENSG00000142513
EnsemblGeneIds (GRCh37): ENSG00000142513
OMIM: 606362, Gene2Phenotype
ACP4 is in 1 panel

3 reviews

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Marked as ready: 18th October 2017.
18 Oct 2017, 11:41 a.m.
Comment on list classification: Updated rating from Red to Green: Green expert review. No disease associated yet in DD-G2P but sufficient cases supporting causation from 2 different populations (Turkish and Pakistani) from recent papers (PMID:28513613 and 27843125).
16 Aug 2017, 2:07 p.m.
Smith et al., 2017 (PMID:28513613) identified 2 homozygous missense variants (T143M, P249L) in ACPT in 2 unrelated Pakistani families. The variants segregated with hypoplastic amelogenesis imperfecta in the families.
16 Aug 2017, 2:05 p.m.
Added 'missense' tag as all variants reported so far are missense variants (see PMID:28513613/PMID:27843125 and comment by Claire Smith).
16 Aug 2017, 2:02 p.m.
Comment on mode of inheritance: Biallelic MOI supported by OMIM and PMID:27843125.
16 Aug 2017, 1:58 p.m.
Seymen et al. (2016, PMID:27843125) studied 6 consanguineous, apparently unrelated Turkish families with generalized hypoplastic amelogenesis imperfecta (MIM:617297) and identified homozygous or compound heterozygous mutations in the ACPT gene that segregated with the disorder in the families. Most variants were present in the ExAC database at a low frequency.
16 Aug 2017, 1:57 p.m.

Claire Smith (University of Leeds)

Green List (high evidence)

Mutations in ACPT, now known as ACP4, were recently identified in eight families with autosomal recessive hypoplastic AI. All seven variants identified are missense changes predicted to affect residues within the extracellular domain that makes up the majority (residues 29–390; NP_149059.1) of the 426 amino acid protein. See ACPT LOVD: http://dna2.leeds.ac.uk/LOVD/genes/ACPT
3 Aug 2017, 1:41 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amelogenesis imperfecta, type IJ 617297

Publications

Louise Daugherty (Genomics England Curator)

New approved HGNC gene symbol is ACP4
4 Jul 2017, 3:49 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Amelogenesis imperfecta, type IJ, 617297
  • hypoplastic amelogenesis imperfecta
OMIM
606362
Clinvar variants
Variants in ACP4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Feb 2018, Gel status: 4

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

5 Nov 2017, Gel status: 4

Changed Gene Name

GEL ()

ACPT was changed to ACP4

5 Nov 2017, Gel status: 4

Removed Tag, Removed Tag

GEL ()

missense was removed from ACPT. Panel: Amelogenesis Imperfecta new-gene-name was removed from ACPT. Panel: Amelogenesis Imperfecta

18 Oct 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: 0

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

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

12 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

ACPT was added to Amelogenesis Imperfectapanel. Sources: Other

12 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

ACPT was created by rfoulger