Description
Autoimmune diabetes inclusion criteria (30564)
- Diabetes AND
- >=2 autoimmune disorders with >=2 of these diagnosed <10 years.

Autoimmune diabetes exclusion criteria (30564)

Prior genetic testing guidance (30564)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Autoimmune Diabetes prior genetic testing genes (30564)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 - AIRE if Addison’s disease is present

Closing statement (30564)
These requirements will be kept under continual review during the main programme and may be subject to change.

2 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Sian Ellard (University of Exeter Medical School)

    Group: other
    Workplace: other

42 Entities

42 reviewed, 4 green

List Entity Reviews Mode of inheritance Details
42 Entitiess
Green Green List (high evidence)
AIRE
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Addisons disease
Tags
Green Green List (high evidence)
FOXP3
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790
  • {Diabetes mellitus, type I, susceptibility to}, 222100
  • Neonatal Diabetes
Tags
Green Green List (high evidence)
LRBA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Tags
Green Green List (high evidence)
STAT3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Neonatal Diabetes
Tags
Red Red List (low evidence)
IL2RA
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Interleukin-2 receptor, alpha chain, deficiency of, 606367
  • {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942
Tags
No list No list
ABCC8
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial, 1, 256450
  • Hypoglycemia of infancy, leucine-sensitive, 240800
  • Diabetes mellitus, transient neonatal 2, 610374
  • Diabetes mellitus, noninsulin-dependent, 125853
  • Diabetes mellitus, permanent neonatal, 6
  • Permanent Neonatal Diabetes Mellitus
  • Transient Neonatal Diabetes, Dominant
  • Monogenic Diabetes
  • Neonatal Diabetes
Tags
No list No list
AKT2
2 reviews
Not set
Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diabetes mellitus, type II, 125853
  • Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900
Tags
No list No list
AQP2
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diabetes insipidus, nephrogenic, 125800
  • Nephrogenic Diabetes Insipidus
Tags
No list No list
AVP
2 reviews
Not set
Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diabetes insipidus, neurohypophyseal, 125700
Tags
No list No list
AVPR2
2 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diabetes insipidus, nephrogenic, 304800
  • Nephrogenic syndrome of inappropriate antidiuresis, 300539
  • Nephrogenic Diabetes Insipidus
Tags
No list No list
BLK
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Maturity-onset diabetes of the young, type 11, 613375
  • Maturity Onset Diabetes of the Young
Tags
No list No list
CEL
2 reviews
Not set
Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Maturity-onset diabetes of the young, type VIII, 609812
Tags
No list No list
EIF2AK3
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • UKGTN
Phenotypes
  • Neonatal Diabetes
Tags
No list No list
ENPP1
2 reviews
Not set
Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ossification of posterior longitudinal ligament of spine, 602475
  • {Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853
  • {Obesity, susceptibility to}, 601665
  • Arterial calcification, generalized, of infancy, 1, 208000
  • Hypophos
Tags
No list No list
GATA4
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • UKGTN
Phenotypes
  • Neonatal Diabetes
Tags
No list No list
GATA6
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • UKGTN
Phenotypes
  • Neonatal Diabetes
  • Monogenic Diabetes
Tags
No list No list
GCK
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • MODY, type II, 125851
  • Diabetes mellitus, noninsulin-dependent, late onset, 125853
  • Diabetes mellitus, gestational, 125851
  • Hyperinsulinemic hypoglycemia, familial, 3, 602485
  • Diabetes mellitus, permanent neonatal, 606176
  • Maturity Onset Diabetes of the Young
  • Permanent Neonatal Diabetes Mellitus
  • Transient Neonatal Diabetes, Recessive
  • Maturity Onset Diabetes of the Young (MODY)
  • Monogenic Diabetes
  • Maturity-Onset Diabetes Of The Young
  • Neonatal Diabetes
Tags
No list No list
GLIS3
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism
  • Neonatal Diabetes
Tags
No list No list
HNF1A
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • MODY, type III, 600496
  • {Diabetes mellitus, noninsulin-dependent, 2}, 125853
  • {Diabetes mellitus, insulin-dependent}, 222100
  • Hepatic adenoma, somatic, 142330
  • Renal cell carcinoma, 144700
  • Diabetes mellitus, insulin-dependent, 20, 612520
  • Maturity Onset Diabetes of the Young
  • Maturity Onset Diabetes of the Young (MODY)
  • Monogenic Diabetes
  • Maturity-Onset Diabetes Of The Young
Tags
No list No list
HNF1B
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Renal cysts and diabetes syndrome, 137920
  • Diabetes mellitus, noninsulin-dependent, 125853
  • {Renal cell carcinoma}, 144700
  • Neonatal Diabetes
  • Maturity-Onset Diabetes Of The Young
  • Monogenic Diabetes
Tags
No list No list
HNF4A
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • MODY, type I, 125850
  • {Diabetes mellitus, noninsulin-dependent}, 125853
  • Maturity Onset Diabetes of the Young
  • Maturity Onset Diabetes of the Young (MODY)
  • Monogenic Diabetes
  • Maturity-Onset Diabetes Of The Young
Tags
No list No list
IER3IP1
2 reviews
Not set
Sources
  • Expert Review Removed
  • UKGTN
Phenotypes
  • Neonatal Diabetes
Tags
No list No list
INS
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hyperproinsulinemia, familial, with or without diabetes
  • Maturity-onset diabetes of the young, type 10, 613370
  • Diabetes mellitus, permanent neonatal, 606176
  • Diabetes mellitus, type 1, 125852
  • Diabetes mellitus, insulin-dependent, 2, 125852
  • Maturity Onset Diabetes of the Young
  • Transient Neonatal Diabetes, Dominant/Recessive
  • Neonatal Diabetes
  • Monogenic Diabetes
Tags
No list No list
INSR
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Leprechaunism, 246200
  • Rabson-Mendenhall syndrome, 262190
  • Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549
  • Hyperinsulinemic hypoglycemia, familial, 5, 609968
  • Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
  • Monogenic Diabetes
Tags
No list No list
KCNJ11
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial, 2, 601820
  • Diabetes, permanent neonatal, 606176
  • Diabetes mellitus, permanent neonatal, with neurologic features, 606176
  • {Diabetes mellitus, type 2, susceptibility to}, 125853
  • Diabetes mellitus, transient neonatal, 3, 610582
  • Maturity Onset Diabetes of the Young
  • Transient Neonatal Diabetes, Dominant
  • Monogenic Diabetes
  • Diabetes Mellitus, Transient Neonatal, 3
  • Diabetes Mellitus, Permanent Neonatal
  • Neonatal Diabetes
Tags
No list No list
KLF11
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Maturity-onset diabetes of the young, type VII, 610508
  • Maturity Onset Diabetes of the Young
Tags
No list No list
LIPC
2 reviews
Not set
Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • [High density lipoprotein cholesterol level QTL 12], 612797
  • {Diabetes mellitus, noninsulin-dependent}, 125853
  • Hepatic lipase deficiency, 614025
Tags
No list No list
LMNA
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • UKGTN
Phenotypes
  • Monogenic Diabetes
Tags
No list No list
MNX1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • UKGTN
Phenotypes
  • Neonatal Diabetes
Tags
No list No list
MT-TL1
2 reviews
MITOCHONDRIAL
Sources
  • Expert Review Removed
  • UKGTN
Phenotypes
  • Monogenic Diabetes
Tags
No list No list
NEUROD1
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • {Diabetes mellitus, noninsulin-dependent}, 125853
  • Maturity-onset diabetes of the young 6, 606394
  • Maturity Onset Diabetes of the Young
  • Neonatal Diabetes
  • Maturity-Onset Diabetes Of The Young
  • Monogenic Diabetes
Tags
No list No list
NEUROG3
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • UKGTN
Phenotypes
  • Neonatal Diabetes
Tags
No list No list
NKX2-2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • UKGTN
Phenotypes
  • Neonatal Diabetes
Tags
No list No list
PAX4
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Maturity-onset diabetes of the young, type IX, 612225
  • Diabetes mellitus, type 2, 125853
  • Diabetes mellitus, ketosis-prone, 612227
  • Maturity Onset Diabetes of the Young
Tags
No list No list
PDX1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • MODY type IV
  • Maturity Onset Diabetes of the Young (MODY)
  • Neonatal Diabetes
  • Maturity-Onset Diabetes Of The Young
  • Monogenic Diabetes
Tags
No list No list
PPARG
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Obesity, severe, 601665
  • [Obesity, resistance to]
  • Insulin resistance, severe, digenic, 604367
  • Lipodystrophy, familial partial, type 3, 604367
  • Carotid intimal medial thickness 1, 609338
  • {Diabetes, type 2}, 125853
  • Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis
  • Monogenic Diabetes
Tags
No list No list
PTF1A
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Permanent neonatal diabetes mellitus (PNDM)
  • Neonatal Diabetes
Tags
No list No list
RFX6
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • UKGTN
Phenotypes
  • Neonatal Diabetes
Tags
No list No list
SLC19A2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • UKGTN
Phenotypes
  • Neonatal Diabetes
Tags
No list No list
SLC2A2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • {Diabetes mellitus, noninsulin-dependent}
  • Fanconi-Bickel syndrome, 227810
  • Neonatal Diabetes
Tags
No list No list
WFS1
2 reviews
Not set
Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Wolfram syndrome, 222300
  • Deafness, autosomal dominant 6/14/38, 600965
  • Wolfram-like syndrome, autosomal dominant, 614296
  • {Diabetes mellitus, noninsulin-dependent, association with}, 125853
Tags
No list No list
ZFP57
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Diabetes mellitus, transient neonatal, 1, 601410
  • Transient Neonatal Diabetes, Recessive
  • Neonatal Diabetes
Tags

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