Monogenic diabetes

Gene: APPL1

Green List (high 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

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).
Created: 28 Jan 2019, 9:37 a.m.
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: APPL1; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Diabetes.
Created: 11 Jan 2019, 10:04 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Maturity-onset diabetes of the young, type 14}, 616511
  • Diabetes
OMIM
604299
Clinvar variants
Variants in APPL1
Penetrance
None
Panels with this gene

History Filter Activity

15 Jul 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: APPL1 were changed from {Maturity-onset diabetes of the young, type 14}, 616511 to {Maturity-onset diabetes of the young, type 14}, 616511; Diabetes

15 Jul 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: APPL1 were changed from to {Maturity-onset diabetes of the young, type 14}, 616511

30 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Initial gene list and info col

30 Jan 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: APPL1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

28 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: appl1 has been classified as Green List (High Evidence).

11 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: APPL1 was added gene: APPL1 was added to Monogenic diabetes. Sources: NHS GMS Mode of inheritance for gene: APPL1 was set to