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Newborns main panel

Gene: APPL1

Amber List (moderate evidence)
APPL1 (adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1)
EnsemblGeneIds (GRCh38): ENSG00000157500
EnsemblGeneIds (GRCh37): ENSG00000157500
OMIM: 604299, Gene2Phenotype
APPL1 is in 2 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 26073777 and PMID: 31264968 - 4 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Maturity-onset diabetes of the young, type 14
OMIM
604299
Clinvar variants
Variants in APPL1
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Maturity-onset diabetes of the young, type 14 for gene: APPL1

5 Jul 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to APPL1. Added phenotypes Maturity-onset diabetes of the young, type 14 for gene: APPL1 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

31 May 2023, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to APPL1. Added phenotypes Maturity-onset diabetes of the young, type 14 for gene: APPL1 Rating Changed from No List (delete) to Red List (low evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: APPL1 was added gene: APPL1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: APPL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown