Monogenic Diabetes (Version 0.202)

Description

This panel contains genes associated with monogenic diabetes, including: 
-familial diabetes
-neonatal diabetes
-maturity onset diabetes of the young
-insulin resistance (including lipodystrophy)

It has been compared against the following Genomics England PanelApp panels with all discrepancies reviewed and resolved (February 2026) : monogenic diabetes (V3.8), familial diabetes (V1.68), neonatal diabetes (V5.14), multi-organ autoimmune diabetes (V1.12), diabetes with additional phenotypes suggestive of a monogenic aetiology (V1.68), and insulin resistance (including lipodystrophy)(V1.18). 

For a high suspicion of a mitochondrial DNA disorder: 
request a specific assay for mitochondrially encoded genes (such as mitochondrial genome sequencing or whole genome sequencing).

Panel Activity

20 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
Alison Yeung (Victorian Clinical Genetics Services)
Tiong Tan (Victorian Clinical Genetics Services)
Lauren Rogers (Victorian Clinical Genetics Services)
Danielle Ariti (University of Melbourne)
Teresa Zhao (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Chirag Patel (Genetic Health Queensland)
Michelle Torres (Victorian Clinical Genetics Services)
Sangavi Sivagnanasundram (Melbourne Health)
Elena Savva (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Lucy Spencer (Victorian Clinical Genetics Services)
Seb Lunke (Victorian Clinical Genetics Services)
Hali Van Niel (University of Melbourne)
Daniel Flanagan (Victorian Clinical Genetics Services)
Santosh Varughese (University of Melbourne)
Krithika Murali (Victorian Clinical Genetics Services)
Sarah Milton (Victorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services)

104 Entities

103 reviewed, 77 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 104 Entitiess
Green Green List (high evidence)	ABCC8	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Maturity-onset diabetes of the young, type 12, MIM# 621196 permanent neonatal diabetes mellitus MONDO:0100164 transient neonatal diabetes mellitus MONDO:0020525 Tags
Green Green List (high evidence)	AGPAT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes congenital generalized lipodystrophy type 1 MONDO:0012071 Tags
Green Green List (high evidence)	AIRE	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300 Tags
Green Green List (high evidence)	ALMS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Alstrom syndrome MONDO:0008763 Tags
Green Green List (high evidence)	BLM	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bloom Syndrome MIM# 210900 Short stature, dysmorphic facies sun-sensitive immunoglobulin deficiency (IgA, IgG, IgM) erythema marrow failure leukaemia lymphoma chromosomal instability predisposition to malignancies Tags
Green Green List (high evidence)	BSCL2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes congenital generalized lipodystrophy type 2 MONDO:0010020 diabetes mellitus MONDO:0005015 Tags
Green Green List (high evidence)	CAV1	3 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital generalized lipodystrophy type 3, MONDO:0012923 Tags
Green Green List (high evidence)	CAVIN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lipodystrophy, congenital generalized, type 4, MIM# 613327 MONDO:0013225 Tags treatable
Green Green List (high evidence)	CEL	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Diabetes and pancreatic exocrine dysfunction Maturity-onset diabetes of the young, type VIII, 609812 Tags technically challenging
Green Green List (high evidence)	CISD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Wolfram syndrome, MIM#2604928 Tags
Green Green List (high evidence)	COQ2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes coenzyme Q10 deficiency, primary, 1 MONDO:0011829 Tags
Green Green List (high evidence)	CTLA4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Autoimmune lymphoproliferative syndrome, type V (MIM#616100), AD Tags
Green Green List (high evidence)	DCAF17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Woodhouse-Sakati syndrome MONDO:0009419 Tags
Green Green List (high evidence)	DNAJC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome MONDO:0014523 Tags
Green Green List (high evidence)	DUT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Bone marrow failure and diabetes mellitus syndrome (MIM#620044) Tags
Green Green List (high evidence)	EIF2AK3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Wolcott-Rallison syndrome MONDO:0009192 neonatal diabetes mellitus MONDO:0016391 Tags
Green Green List (high evidence)	EIF2B1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related Tags
Green Green List (high evidence)	EIF2S3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes microcephaly MEHMO syndrome (X-linked NDM and microcephaly),300148 diabetes epilepsy hypogonadism intellectual disability hypogenitalism central obesity Tags
Green Green List (high evidence)	FOXP3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green UKGTN Phenotypes immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome MONDO:0010580 Tags
Green Green List (high evidence)	GATA4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS UKGTN Phenotypes neonatal diabetes mellitus MONDO:0016391 Tags
Green Green List (high evidence)	GATA6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes pancreatic hypoplasia-diabetes-congenital heart disease syndrome MONDO:0010802 Tags
Green Green List (high evidence)	GCK	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853) Diabetes mellitus, permanent neonatal 1, AR (MIM#606176) Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485) MODY, type II, AD (MIM#125851) Tags
Green Green List (high evidence)	GLIS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes neonatal diabetes mellitus with congenital hypothyroidism MONDO:0012436 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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes haemochromatosis type 1 MONDO:0021001 Tags
Green Green List (high evidence)	HFE2	1 review	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	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 Maturity-Onset Diabetes Of The Young MODY, type III, 600496 Maturity-onset diabetes of the young (MODY) 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 {Diabetes mellitus, noninsulin-dependent, 2}, 125853 Diabetes mellitus, insulin-dependent, 20, 612520 {Diabetes mellitus, insulin-dependent}, 222100 Maturity Onset Diabetes of the Young MODY3 Tags
Green Green List (high evidence)	HNF1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes renal cysts and diabetes syndrome MONDO:0007669 Tags SV/CNV
Green Green List (high evidence)	HNF4A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026 Maturity-Onset Diabetes Of The Young, Type 1 MODY1, 125850 {Diabetes mellitus, noninsulin-dependent}, 125853 Tags
Green Green List (high evidence)	IER3IP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647 Tags
Green Green List (high evidence)	IL2RA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green NHS GMS Phenotypes Neoantal diabetes, congenital hypothyrodism (multiple autoimmune) Recessive {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942 insulin-dependent diabetes mellitus at 8-weeks IPEX-like syndrome neonatal diabetes Tags
Green Green List (high evidence)	INS	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes diabetes mellitus, permanent neonatal 4 MONDO:0030089 maturity-onset diabetes of the young type 10 MONDO:0013240 Tags
Green Green List (high evidence)	INSR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes insulin-resistance syndrome type A MONDO:0012520 Rabson-Mendenhall syndrome MONDO:0009874 Donohue syndrome MONDO:0009517 Tags
Green Green List (high evidence)	Chromosome 17q12 deletion syndrome ISCA-37432-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Chromosome 17q12 deletion syndrome MIM#614527 Renal cysts and diabetes (RCAD) syndrome Tags
Green Green List (high evidence)	Chromosome 6q24-related transient diabetes mellitus, neonatal ISCA-37442-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Diabetes mellitus, transient neonatal 1, MIM# 601410 Tags SV/CNV
Green Green List (high evidence)	ITCH	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245 Tags founder
Green Green List (high evidence)	KCNJ11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes permanent neonatal diabetes mellitus MONDO:0100164 Tags
Green Green List (high evidence)	LIPE	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes LIPE-related familial partial lipodystrophy, MONDO:0014431 Tags
Green Green List (high evidence)	LMNA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Severe insulin resistance, partial lipodystrophy and diabetes FPLD2 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 Lipodystrophy, familial partial, 2, 151660 Tags
Green Green List (high evidence)	LRBA	1 review 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)	MFN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes Multiple symmetric lipomatosis with partial lipodystrophy, MONDO:1060153 Tags
Green Green List (high evidence)	MIA3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269 Tags
Green Green List (high evidence)	MNX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Permanent neonatal diabetes mellitus, MONDO:0100164, MNX1-related Tags
Green Green List (high evidence)	MT-TL1	2 reviews 2 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Mitochondrial disease (MONDO:0044970), MT-TL1-related Tags mtDNA
Green Green List (high evidence)	NEUROD1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Monogenic diabetes, MONDO:0015967 Tags
Green Green List (high evidence)	NEUROG3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes congenital malabsorptive diarrhea 4 MONDO:0012479 Tags
Green Green List (high evidence)	NKX2-2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment Tags
Green Green List (high evidence)	ONECUT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Syndromic diabetes Neonatal diabetes mellitus MONDO:0016391 Tags
Green Green List (high evidence)	PCBD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hyperphenylalaninemia, BH4-deficient, D, 264070 Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty) Tags
Green Green List (high evidence)	PDIA6	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes multiple congenital anomalies, MONDO:0019042, PDIA6-related Tags
Green Green List (high evidence)	PDX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes maturity-onset diabetes of the young type 4 MONDO:0011667 Tags
Green Green List (high evidence)	PIK3R1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes SHORT syndrome MONDO:0010026 Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, MIM#269880 Tags
Green Green List (high evidence)	PLA2G16	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lipodystrophy, familial partial, type 9, MIM# 620683 Tags new gene name
Green Green List (high evidence)	PLIN1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes PLIN1-related familial partial lipodystrophy, MONDO:0013478 Tags
Green Green List (high evidence)	POC5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ciliopathy, MONDO:0005308, POC5-related Tags
Green Green List (high evidence)	POLD1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes mandibular hypoplasia-deafness-progeroid syndrome MONDO:0014157 Tags
Green Green List (high evidence)	PPARG	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Insulin resistance, severe, digenic FPLD3 Obesity, severe, 601665 {Diabetes, type 2}, 125853 Lipodystrophy, familial partial, type 3 Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension Insulin resistance, severe, digenic 604367 [Obesity, resistance to] Lipodystrophy, familial partial, type 3, 604367 Insulin resistance, severe, digenic, 604367 Lipodystrophy, familial partial, type 3 604367 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 Carotid intimal medial thickness 1, 609338 Tags
Green Green List (high evidence)	PTF1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Diabetes mellitus, permanent neonatal, with cerebellar agenesis, MIM#609069 Tags
Green Green List (high evidence)	RFX6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Mitchell-Riley syndrome, 615710 Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities recessive syndromic diabetes and autosomal dominant MODY Tags
Green Green List (high evidence)	RNU4ATAC	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes RNU4ATAC spectrum disorder MONDO:0100558 Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710) Roifman syndrome (MIM# 616651) Lowry-Wood syndrome, MIM# 226960 Tags non-coding gene
Green Green List (high evidence)	SLC19A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes thiamine-responsive megaloblastic anemia syndrome MONDO:0009575 Tags
Green Green List (high evidence)	SLC29A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Histiocytosis-lymphadenopathy plus syndrome, MIM#602782 Tags
Green Green List (high evidence)	SLC2A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi-Bickel syndrome, MIM# 227810 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, MIM# 606069 Tags
Green Green List (high evidence)	SMPD4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies MIM#618622 Tags
Green Green List (high evidence)	STAT1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0013599 Tags
Green Green List (high evidence)	STAT3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Phenotypes STAT3-related early-onset multisystem autoimmune disease MONDO:0014414 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)	TMEM167A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Microcephaly, epilepsy, and diabetes syndrome MONDO:0100328, TMEM167A-related Tags
Green Green List (high evidence)	TRMT10A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Microcephaly, short stature, and impaired glucose metabolism 1, 616033 Tags
Green Green List (high evidence)	WFS1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Wolfram-like syndrome, autosomal dominant, 614296 Wolfram syndrome, 222300 Deafness, autosomal dominant 6/14/38, 600965 ?Cataract 41,116400 {Diabetes mellitus, noninsulin-dependent, association with}, 125853 Deafness,autosomal dominant 6/14/38, 600965 {Diabetes mellitus, noninsulin-dependent,association with} diabetes insipidus or optic atrophy Tags
Green Green List (high evidence)	WRN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Werner syndrome, MIM# 277700 MONDO:0010196 Tags
Green Green List (high evidence)	YIPF5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278 Tags
Green Green List (high evidence)	ZBTB20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Primrose syndrome MONDO:0009798 Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications) Primrose syndrome, 259050 Tags
Green Green List (high evidence)	ZFP57	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Diabetes mellitus, transient neonatal, 1, MIM#601410 Tags
Green Green List (high evidence)	ZMPSTE24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mandibuloacral dysplasia with type B lipodystrophy, 608612 Tags
Green Green List (high evidence)	ZNF808	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pancreatic agenesis 3, MIM# 620991 Tags
Amber Amber List (moderate evidence)	CNOT1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Holoprosencephaly 12 with or without pancreatic agenesis MONDO:0032787 Tags
Amber Amber List (moderate evidence)	DYRK1B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes) Abdominal obesity-metabolic syndrome 3, 615812 Tags
Amber Amber List (moderate evidence)	EPHX1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Hereditary lipodystrophy, MONDO:0020087, EPHX1-related Tags
Amber Amber List (moderate evidence)	FICD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Monogenic diabetes, MONDO:0015967, FICD-related Tags
Amber Amber List (moderate evidence)	MANF	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Diabetes, deafness, developmental delay, and short stature syndrome, MIM# 620651 Tags
Amber Amber List (moderate evidence)	NSMCE2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Seckel syndrome 10, MONDO:0014991 Tags
Amber Amber List (moderate evidence)	PCYT1A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Lipodystrophy, congenital generalized, type 5, MIM# 620680 Tags
Amber Amber List (moderate evidence)	PPP1R15B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability,616817 Tags
Amber Amber List (moderate evidence)	RNU6ATAC	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related neonatal diabetes Tags non-coding gene
Amber Amber List (moderate evidence)	TARS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert List Expert Review Amber Phenotypes Combined oxidative phosphorylation defect type 21, MONDO:0014398 Tags
Red Red List (low evidence)	ADRA2A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Lipodystrophy, familial partial, type 8, OMIM #620679 Tags
Red Red List (low evidence)	AGPS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Lipodystrophy, congenital generalized, type 1, 608594 Tags
Red Red List (low evidence)	AKT2	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Phenotypes Diabetes mellitus, type II, 125853 Tags
Red Red List (low evidence)	APPL1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Royal Melbourne Hospital Phenotypes {Maturity-onset diabetes of the young, type 14}, 616511 Diabetes Tags
Red Red List (low evidence)	BLK	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Royal Melbourne Hospital Phenotypes Maturity-onset diabetes of the young, type 11, 613375 Maturity Onset Diabetes of the Young Tags refuted
Red Red List (low evidence)	CIDEC	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes CIDEC-related familial partial lipodystrophy MONDO:0014098 Tags
Red Red List (low evidence)	COQ9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome MONDO:0013840 Tags
Red Red List (low evidence)	DMXL2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Other Phenotypes Polyendocrine-polyneuropathy syndrome , MIM# 616113 Tags
Red Red List (low evidence)	FOXC2	1 review	Unknown	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)	KLF11	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Red Royal Melbourne Hospital Phenotypes Maturity-onset diabetes of the young, type VII, 610508 Maturity Onset Diabetes of the Young Tags refuted
Red Red List (low evidence)	LIPC	1 review 1 red	Unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes {Diabetes mellitus, noninsulin-dependent}, MIM#125853 Tags
Red Red List (low evidence)	NFKB1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 12 MIM# 616576 Normal-low IgG, IgA, IgM low-normal B cells low switched memory B cells hypogammaglobulinaemia recurrent respiratory and gastrointestinal infections Chronic obstructive pulmonary disease COPD EBV proliferation autoimmunity alopecia Tags
Red Red List (low evidence)	PAX4	4 reviews 2 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Royal Melbourne Hospital Phenotypes Maturity-onset diabetes of the young, type IX MIM#612225 Transient neonatal diabetes mellitus, MONDO:0020525, PAX-4 related Tags refuted
Red Red List (low evidence)	PAX6	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Phenotypes Monogenic diabetes, MONDO:0015967, PAX6-related Tags
Red Red List (low evidence)	PPP1R3A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Insulin resistance, severe, digenic 125853 Tags
Red Red List (low evidence)	SIRT1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes monogenic diabetes MONDO:0015967 Tags
Red Red List (low evidence)	UNC13A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Monogenic diabetes, MONDO:0015967, UNC13A-related Tags

Monogenic Diabetes (Version 0.202)

20 reviewers

104 Entities

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