Genes in panel
STRs in panel
Prev Next

Undiagnosed metabolic disorders

Gene: ALPL

Green List (high evidence)

ALPL (alkaline phosphatase, liver/bone/kidney)
EnsemblGeneIds (GRCh38): ENSG00000162551
EnsemblGeneIds (GRCh37): ENSG00000162551
OMIM: 171760, Gene2Phenotype
ALPL is in 9 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Hypophosphatasia (Disorders of pyridoxine metabolism);Craniosynostosis syndromes phenotypes;Osteogenesis Imperfecta;Unexplained skeletal dysplasia
Created: 19 Sep 2019, 2:02 p.m. | Last Modified: 19 Sep 2019, 2:02 p.m.
Panel Version: 1.268
Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 16 variants reported in hypophosphatasia, infantile 241500, some of these variants and others were found in childhood and adult Hypophosphatasia and two addtional variants were reported in a case of perinatal lethal hypophosphatasia (PMID 11745997).
Created: 19 Sep 2019, 1:59 p.m. | Last Modified: 19 Sep 2019, 1:59 p.m.
Panel Version: 1.266

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Unexplained skeletal dysplasia

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypophosphatasia, adult 146300
  • Hypophosphatasia, childhood 241510
  • Hypophosphatasia, infantile 241500
  • Odontohypophosphatasia 146300
OMIM
171760
Clinvar variants
Variants in ALPL
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Sep 2019, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ALPL were changed from Hypophosphatasia (Disorders of pyridoxine metabolism); Craniosynostosis syndromes phenotypes; Osteogenesis Imperfecta; Unexplained skeletal dysplasia to Hypophosphatasia, adult 146300; Hypophosphatasia, childhood 241510; Hypophosphatasia, infantile 241500; Odontohypophosphatasia 146300

19 Sep 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ALPL were set to 27604308

19 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

27 Feb 2017, Gel status: 2

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added

6 Jan 2017, Gel status: 2

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

ALPL was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Amber Model of inheritance for gene ALPL was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

28 Oct 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

ALPL was added to Undiagnosed metabolic disorderspanel. Sources: Literature

28 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ALPL was created by sleigh