Maturity-onset Diabetes of the Young
Gene: APPL1

APPL1 (adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1)
EnsemblGeneIds (GRCh38): ENSG00000157500
EnsemblGeneIds (GRCh37): ENSG00000157500
OMIM: 604299, Gene2Phenotype
APPL1 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

PMID: 36208030 - a study using the UK Biobank comparing individuals with and without diabetes found LoF variants in APPL1 were ‘Inconsistent’ with being high penetrant for diabetes (failed both statistical criteria - enrichment & comparison to maximum credible allele frequency). Refutes previous study.
Created: 29 Feb 2024, 12:40 a.m. | Last Modified: 29 Feb 2024, 12:40 a.m.

Panel Version: 1.8

2 unrelated families with maturity-onset diabetes of the young heterozygous for a nonsense mutation (L552X) and a missense mutation (D94N) in the APPL1 gene, respectively. In vitro functional analysis indicated that both are loss-of-function mutations.
Created: 6 Feb 2020, 10:54 p.m. | Last Modified: 6 Feb 2020, 10:54 p.m.

Panel Version: 0.1

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Maturity-onset diabetes of the young, type 14 MIM#616511

Publications

Created: 6 Feb 2020, 10:54 p.m.
Last Modified: 6 Feb 2020, 10:54 p.m.
Panel version: 1.8

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red
Royal Melbourne Hospital

Phenotypes

{Maturity-onset diabetes of the young, type 14}, 616511

OMIM

604299

Clinvar variants

Variants in APPL1

Penetrance

None

Publications

Panels with this gene