Description
Diabetes inclusion criteria (29420)
- Diagnosis of diabetes <30 years of age 
- Not insulin dependent (>=1 years without insulin treatment)  
- Non-obese (BMI <30)  

Unaffected family members should only be recruited if they have had testing to rule out diabetes (e.g. normal HbA1c) at or over the age of 40.

Diabetes exclusion criteria (29420)
- One or more autoantibodies positive

Prior genetic testing guidance (29420)
- 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.

Familial young-onset non-insulin-dependent diabetes prior genetic testing genes (29420)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 No genes listed

Closing statement (29420)
These requirements will be kept under continual review during the main programme and may be subject to change.

7 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Ellen Thomas (Genomics England)

    Group: other
    Workplace: other

  • Sian Ellard (University of Exeter Medical School)

    Group: other
    Workplace: other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Jayne Houghton (Royal Devon and Exeter Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

57 Entities

55 reviewed, 50 green

List Entity Reviews Mode of inheritance Details
57 Entitiess
Green Green List (high evidence)
ABCC8
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Permanent Neonatal Diabetes Mellitus
  • Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6
  • Permanent Neonatal Diabetes Mellitus (recessive)
  • Transient Neonatal Diabetes, Dominant
Tags
Green Green List (high evidence)
AGPAT2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Expert Review Removed
Tags
Green Green List (high evidence)
AKT2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Diabetes mellitus, type II,125853
  • Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900
Tags
Green Green List (high evidence)
APPL1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Maturity-onset diabetes of the young, type 14}, 616511
Tags
Green Green List (high evidence)
BSCL2
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Expert Review Removed
Phenotypes
  • Berardinelli-Seip congenital lipodystrophy
Tags
Green Green List (high evidence)
CEL
4 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Maturity-onset diabetes of the young, type VIII, 609812
Tags
Green Green List (high evidence)
CISD2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Wolfram syndrome 2, 604928
Tags
Green Green List (high evidence)
DCAF17
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Woodhouse-Sakati syndrome, 241080
Tags
Green Green List (high evidence)
DNAJC3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192
Tags
Green Green List (high evidence)
DYRK1B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Abdominal obesity-metabolic syndrome 3, 615812
Tags
Green Green List (high evidence)
EIF2AK3
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus
  • Wolcott-Rallison syndrome
Tags
Green Green List (high evidence)
FOXP3
3 reviews
1 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review Removed
  • UKGTN
Tags
Green Green List (high evidence)
GATA4
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • UKGTN
Tags
Green Green List (high evidence)
GATA6
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • UKGTN
Tags
Green Green List (high evidence)
GCK
4 reviews
3 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Maturity-onset diabetes of the young (MODY)
  • Maturity Onset Diabetes of the Young
  • MODY, type II, 125851
  • Transient Neonatal Diabetes, Recessive
  • Permanent Neonatal Diabetes Mellitus (recessive)
  • Maturity Onset Diabetes of the Young (Dominant)
Tags
Green Green List (high evidence)
GLIS3
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism
  • Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 -3
Tags
Green Green List (high evidence)
HNF1A
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • MODY, type III, 600496{Diabetes mellitus, noninsulin-dependent, 2}, 125853{Diabetes mellitus, insulin-dependent}, 222100Hepatic adenoma, somatic, 142330Renal cell carcinoma, 144700Diabetes mellitus, insulin-dependent, 20, 612520
  • Maturity Onset Diabetes of the Young
Tags
Green Green List (high evidence)
HNF1B
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Renal cysts and diabetes syndrome, 137920
Tags
Green Green List (high evidence)
HNF4A
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • MODY, type I, 125850
  • Maturity Onset Diabetes of the Young
  • OMIM 616026
Tags
Green Green List (high evidence)
IER3IP1
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Removed
  • UKGTN
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome
Tags
Green Green List (high evidence)
INS
4 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Maturity Onset Diabetes of the Young
  • Hyperproinsulinemia, familial, with or without diabetes
  • Transient Neonatal Diabetes, Dominant/Recessive
  • Maturity Onset Diabetes of the Young (Dominant)
Tags
Green Green List (high evidence)
INSR
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • UKGTN
Phenotypes
  • Diabetes mellitus, insulin-resistant, with acanthosis nigricans
  • OMIM 610549
Tags
Green Green List (high evidence)
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss
ISCA-37432-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • RCAD syndrome
  • utero-vaginal atresia
  • Schizophrenia
  • 614527
  • delayed development, intellectual disability
  • Renal cysts and diabetes syndrome
  • Autism Spectrum Disorder
  • Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females
  • Chromosome 17q12 deletion syndrome
  • global developmental delay
Tags
Green Green List (high evidence)
KCNJ11
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582
  • Maturity Onset Diabetes of the Young
Tags
Green Green List (high evidence)
LMNA
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • UKGTN
Tags
Green Green List (high evidence)
LRBA
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Expert Review Removed
Phenotypes
  • Immunodeficiency, common variable, 8, with autoimmunity
Tags
Green Green List (high evidence)
MNX1
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Removed
  • UKGTN
Tags
Green Green List (high evidence)
MT-TL1
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • NHS GMS
  • UKGTN
Phenotypes
  • MELAS syndrome
Tags
Green Green List (high evidence)
NEUROD1
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Maturity Onset Diabetes of the Young
  • {Diabetes mellitus, noninsulin-dependent}, 125853
Tags
Green Green List (high evidence)
NEUROG3
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Removed
  • UKGTN
Tags
Green Green List (high evidence)
NKX2-2
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Removed
  • UKGTN
Tags
Green Green List (high evidence)
PAX6
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Aniridia, 106210
  • diabetes
Tags
Green Green List (high evidence)
PCBD1
5 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, D 264070
Tags
Green Green List (high evidence)
PDX1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • NHS GMS
  • UKGTN
Phenotypes
  • Pancreatic agenesis 1
Tags
Green Green List (high evidence)
PIK3R1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome
Tags
Green Green List (high evidence)
PLIN1
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes
Tags
Green Green List (high evidence)
POLD1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males
  • Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
Tags
Green Green List (high evidence)
PPARG
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • UKGTN
Phenotypes
  • Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension
  • Lipodystrophy, familial partial, type 3
  • Insulin resistance, severe, digenic
Tags
Green Green List (high evidence)
PPP1R15B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Microcephaly, short stature, and impaired glucose metabolism 2, 616817
Tags
Green Green List (high evidence)
PTF1A
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Permanent neonatal diabetes mellitus (PNDM)
  • Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069
Tags
Green Green List (high evidence)
RFX6
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • UKGTN
Phenotypes
  • Mitchell-Riley syndrome
Tags
Green Green List (high evidence)
SLC19A2
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Removed
  • UKGTN
Phenotypes
  • Thiamine-responsive megaloblastic anemia syndrome
  • MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS ROGERS SYNDROME
Tags
Green Green List (high evidence)
SLC29A3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome
Tags
Green Green List (high evidence)
SLC2A2
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • {Diabetes mellitus, noninsulin-dependent}
  • Fanconi-Bickel syndrome
Tags
Green Green List (high evidence)
STAT3
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Removed
  • UKGTN
Tags
Green Green List (high evidence)
TRMT10A
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • young onset diabetes, short stature and microcephaly with intellectual disability
  • failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies
Tags
Green Green List (high evidence)
WFS1
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Wolfram syndrome, 222300
Tags
Green Green List (high evidence)
ZBTB20
4 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Primrose syndrome, 259050
Tags
Green Green List (high evidence)
ZFP57
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Transient Neonatal Diabetes, Recessive
  • Diabetes mellitus, transient neonatal, 1, 601410
Tags
Green Green List (high evidence)
ZMPSTE24
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mandibuloacral dysplasia with type B lipodystrophy, 608612
Tags
Red Red List (low evidence)
BLK
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Maturity Onset Diabetes of the Young
  • Maturity-onset diabetes of the young, type 11, 613375
Tags
Red Red List (low evidence)
ENPP1
3 reviews
2 red
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}, 601665Arterial calcification, generalized, of infancy, 1, 208000Hypophos
Tags
Red Red List (low evidence)
IL2RA
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
  • Expert Review Removed
Tags
Red Red List (low evidence)
KLF11
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Maturity Onset Diabetes of the Young
  • Maturity-onset diabetes of the young, type VII, 610508
Tags
Red Red List (low evidence)
LIPC
3 reviews
2 red
Not set
Sources
  • Expert Review Red
  • 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
Red Red List (low evidence)
PAX4
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Maturity Onset Diabetes of the Young
  • Maturity-onset diabetes of the young, type IX, 612225
Tags
Red Red List (low evidence)
STAT1
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Red
  • Expert Review Removed
Tags

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