Diabetes with additional phenotypes suggestive of a monogenic aetiology (Version 1.67)

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.

Panel Activity

9 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: Other
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
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other

65 Entities

65 reviewed, 44 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 65 Entitiess
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 Lipodystrophy, congenital generalized, type 2, OMIM:269700 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 Diabetes mellitus, insulin-dependent, 20, OMIM:612520 {Diabetes mellitus, noninsulin-dependent, 2}, OMIM:125853 MODY, type III, OMIM:600496 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)	17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss ISCA-37432-Loss Region	1 review	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 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 gene-checked
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 gene-checked
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)	POLD1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381 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 Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782 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	4 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, OMIM:222300 Deafness, autosomal dominant 6/14/38, OMIM:600965 Wolfram-like syndrome, autosomal dominant, OMIM:614296 {Diabetes mellitus, noninsulin-dependent, association with}, OMIM:125853 ?Cataract 41, OMIM:116400 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
Amber Amber List (moderate evidence)	PLIN1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes 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 curated_removed
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 curated_removed
No list No list	AVP	2 reviews	Not set	Sources Expert Review Removed Radboud University Medical Center, Nijmegen Phenotypes Diabetes insipidus, neurohypophyseal, 125700 Tags curated_removed
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 curated_removed
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 curated_removed
No list No list	IL1RN	2 reviews	Not set	Sources Expert Review Removed Radboud University Medical Center, Nijmegen Phenotypes {Microvascular complications of diabetes 4}, OMIM:612628 Tags curated_removed
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 curated_removed
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 curated_removed
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 curated_removed

Major version comments

25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.

Diabetes with additional phenotypes suggestive of a monogenic aetiology (Version 1.67)

9 reviewers

65 Entities

65 reviewed, 44 green

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