Familial 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
  • NHS GMS
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Maturity-onset diabetes of the young, type 14}, 616511
OMIM
604299
Clinvar variants
Variants in APPL1
Penetrance
None
Panels with this gene

History Filter Activity

1 Mar 2019, Gel status: 4

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

1 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: APPL1 was added gene: APPL1 was added to Familial diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: APPL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown