Description
Monogenic diabetes inclusion criteria (30567)
- Developmental disorder phenotype (e.g. CNS, renal or cardiac) AND 
- Diagnosis of diabetes <25 years AND 
- Not insulin dependent (>=3 years without insulin treatment) AND 
- Non-obese (BMI <30) 

Monogenic diabetes exclusion criteria (30568) 
- One or more pancreatic autoantibodies (GAD, IA2, ICA) positive (titre >99th population centile) 

Prior genetic testing guidance (30562) 
- 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. 

Monogenic diabetes prior genetic testing genes (30719) 
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
- MT-TL1 testing 
- Other appropriate single gene tests as suggested by the phenotype, e.g. HNF1B if renal malformation, WFS1 if diabetes insipidus or optic atrophy, ALMS1 if obesity or cone-rod dystrophy 
- If the appropriate prior genetic testing is unclear, please go to www.diabetesgenes.org for further information, or consider carrying out a panel test of known diabetes genes. 

Closing statement (30562) 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

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • Chris Boustred (Genomics England)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

65 Entities

64 reviewed, 44 green

List Entity Reviews Mode of inheritance Details
65 Entitiess
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)
ABCC8
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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
  • Permanent neonatal diabetes mellitus
  • transient neonatal diabetes (Dominant)
  • DIABETES MELLITUS, NONINSULIN-DEPENDENT
Tags
Green Green List (high evidence)
AGPAT2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • lipodystrophy
Tags
Green Green List (high evidence)
ALMS1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Alstrom syndrome
Tags
Green Green List (high evidence)
BSCL2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Berardinelli-Seip congenital lipodystrophy
Tags
Green Green List (high evidence)
CISD2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • 604928
  • Wolfram syndrome 2
Tags
Green Green List (high evidence)
EIF2AK3
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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
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
  • IPEX syndrome
Tags
Green Green List (high evidence)
GATA4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Neonatal diabetes, Pancreatic agenesis and/or congenital heart defects
Tags
Green Green List (high evidence)
GATA6
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Pancreatic agenesis and congenital heart defects
  • PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS
Tags
Green Green List (high evidence)
GCK
4 reviews
2 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
  • 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)
  • Maturity-Onset Diabetes Of The Young
  • Permanent neonatal diabetes
  • MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2
  • MODY2
Tags
Green Green List (high evidence)
GLIS3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 -3
  • Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism
  • Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
  • Neonatal Diabetes mellitus with congenital hypothyroidism
Tags
Green Green List (high evidence)
HAMP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Hemochromatosis, type 2B 613313
Tags
Green Green List (high evidence)
HFE
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemochromatosis, 235200
  • {Microvascular complications of diabetes 7}, 612635
  • {Porphyria variegata, susceptibility to}, 176200
  • {Porphyria cutanea tarda, susceptibility to}, 176100
  • {Alzheimer disease, susceptibility to}, 104300
Tags
Green Green List (high evidence)
HFE2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Hemochromatosis, type 2A, 602390
Tags
  • new-gene-name
Green Green List (high evidence)
HNF1A
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • 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)
  • Maturity-Onset Diabetes Of The Young
  • MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3
  • MODY3
Tags
Green Green List (high evidence)
HNF1B
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Renal cysts and diabetes syndrome, 137920
  • Diabetes mellitus, noninsulin-dependent, 125853
  • {Renal cell carcinoma}, 144700
  • Renal Cysts and Diabetes Syndrome
  • Maturity-Onset Diabetes Of The Young
  • Transient neonatal diabetes
  • RENAL CYSTS AND DIABETES SYNDROME
  • RCAD
  • renal malformation
Tags
Green Green List (high evidence)
HNF4A
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • 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)
  • Maturity-Onset Diabetes Of The Young
  • MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1
  • MODY1
  • #616026
Tags
Green Green List (high evidence)
IER3IP1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome, 614231
  • Microcephaly, epilepsy and diabetes syndrome
Tags
Green Green List (high evidence)
INS
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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
  • Permanent Neonatal diabetes mellitus
  • MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10
  • MODY10
Tags
Green Green List (high evidence)
INSR
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Diabetes mellitus, insulin-resistant, with acanthosis nigricans
  • OMIM 610549
  • 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
  • Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities
  • Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans
  • Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
  • DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS
Tags
Green Green List (high evidence)
KCNJ11
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • 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
  • {Diabetes mellitus, type 2, susceptibility to}, 125853
  • Diabetes mellitus, trans
  • Maturity Onset Diabetes of the Young
  • Transient Neonatal Diabetes, Dominant
  • Diabetes Mellitus, Permanent Neonatal
  • Diabetes Mellitus, Transient Neonatal, 3
  • Transient Neonatal diabetes mellitus (Dominant)
  • Maturity Onset Diabetes of the Young (Dominant)
  • Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive)
  • Transient Neonatal, 3
Tags
Green Green List (high evidence)
LMNA
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
  • LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
  • FPLD2
Tags
Green Green List (high evidence)
LRBA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Immunodeficiency, common variable, 8, with autoimmunity
Tags
Green Green List (high evidence)
MNX1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
MT-TL1
2 reviews
1 green
MITOCHONDRIAL
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • UKGTN
Phenotypes
  • MELAS syndrome
  • Diabetes-Deafness Syndrome, Maternally Transmitted
  • DIABETES AND DEAFNESS, MATERNALLY INHERITED
  • MIDD
Tags
Green Green List (high evidence)
NEUROD1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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
  • Maturity-Onset Diabetes Of The Young
  • Permanent neonatal diabetes and cerebellar agenesis
  • MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6
  • MODY6
Tags
Green Green List (high evidence)
NEUROG3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Permanent neonatal diabetes and enteric anendocrinosis
Tags
Green Green List (high evidence)
NKX2-2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
PDX1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • MODY type IV
  • Maturity-onset diabetes of the young (MODY)
  • Maturity-Onset Diabetes Of The Young
  • Permanent neonatal diabetes
  • MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4
  • MODY4
Tags
Green Green List (high evidence)
PIK3R1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
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
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes
Tags
Green Green List (high evidence)
POLD1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
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
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • 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 Nigricans and Hypertension
  • LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3
  • FPLD3
Tags
Green Green List (high evidence)
PTF1A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069
  • Permanent neonatal diabetes mellitus (PNDM)
  • Permanent neonatal diabetes with cerebellar agenesis
Tags
Green Green List (high evidence)
RFX6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities
  • Mitchell-Riley syndrome
Tags
Green Green List (high evidence)
SLC19A2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome
Tags
Green Green List (high evidence)
SLC2A2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • {Diabetes mellitus, noninsulin-dependent}
  • Fanconi-Bickel syndrome, 227810
  • Fanconi-Bickel syndrome
Tags
Green Green List (high evidence)
SLC40A1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Hemochromatosis, type 4 606069
Tags
Green Green List (high evidence)
STAT3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Neonatal diabetes and additional multi-organ autoimmunity
Tags
Green Green List (high evidence)
TFR2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Hemochromatosis, type 3 604250
Tags
Green Green List (high evidence)
TRMT10A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
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
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • 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
  • ?Cataract 41,116400
  • Deafness,autosomal dominant 6/14/38, 600965
  • Wolfram syndrome, 222300
  • {Diabetes mellitus, noninsulin-dependent,association with}
  • diabetes insipidus or optic atrophy
Tags
Green Green List (high evidence)
ZFP57
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Diabetes mellitus, transient neonatal, 1, 601410
  • Transient Neonatal Diabetes, Recessive
  • Transient Neonatal Diabetes
Tags
Amber Amber List (moderate evidence)
DMXL2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Sensorineural Hearing Loss
  • ORPHA90636
  • OMIM:612186
Tags
Red Red List (low evidence)
BLK
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • 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
Red Red List (low evidence)
CEL
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Maturity-onset diabetes of the young, type VIII, 609812
Tags
Red Red List (low evidence)
DCAF17
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Tags
Red Red List (low evidence)
FOXC2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lymphedema-distichiasis syndrome, 153400
  • Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400
Tags
Red Red List (low evidence)
IL2RA
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Tags
Red Red List (low evidence)
KLF11
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • 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
Red Red List (low evidence)
PAX4
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • 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
Red Red List (low evidence)
PCBD1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Tags
Red Red List (low evidence)
STAT1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Red
Tags
Red Red List (low evidence)
ZBTB20
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Primrose syndrome
Tags
No list No list
ACE
2 reviews
Not set
Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Myocardial infarction, susceptibility to}
  • {Alzheimer disease, susceptibility to}, 104300
  • {Microvascular complications of diabetes 3}, 612624
  • [Angiotensin I-converting enzyme, benign serum increase]
  • {SARS, progression of}
  • Renal tubular
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
  • UKGTN
Phenotypes
  • Diabetes insipidus, nephrogenic, 304800
  • Nephrogenic syndrome of inappropriate antidiuresis, 300539
  • Nephrogenic Diabetes Insipidus
  • Diabetes Insipidus, Nephrogenic, X-Linked
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
IL1RN
2 reviews
Not set
Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Gastric cancer risk after H. pylori infection}, 137215
  • {Microvascular complications of diabetes 4}, 612628
  • Interleukin 1 receptor antagonist deficiency, 612852
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
SPINK1
2 reviews
Not set
Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pancreatitis, hereditary, 167800
  • {Fibrocalculous pancreatic diabetes, susceptibility to}, 608189
  • Tropical calcific pancreatitis, 608189
Tags
No list No list
UGT1A1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Transient Familial Neonatal Hyperbilirubinemia
Tags

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