PanelApp
  1. Panels
  2. Monogenic Diabetes
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

21 reviewers

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Alison Yeung (Victorian Clinical Genetics Services)

  • Tiong Tan (Victorian Clinical Genetics Services)

  • Chern Lim (Victorian Clinical Genetics Services)

  • Kristin Rigbye (Victorian Clinical Genetics Services)

  • Teresa Zhao (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Michelle Torres (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Daniel Flanagan (Victorian Clinical Genetics Services)

  • Seb Lunke (Victorian Clinical Genetics Services)

  • Krithika Murali (Pathology Queensland)

  • Danielle Ariti (University of Melbourne)

  • Lucy Spencer (Victorian Clinical Genetics Services)

  • Sangavi Sivagnanasundram (Melbourne Health)

  • Lauren Rogers (Victorian Clinical Genetics Services)

  • Hali Van Niel (University of Melbourne)

  • Santosh Varughese (University of Melbourne)

  • Sarah Milton (Victorian Clinical Genetics Services)

111 Entities

111 reviewed, 81 green

List Entity Reviews Mode of inheritance Details
111 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)
CELA2A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • abdominal obesity-metabolic syndrome 4 MONDO:0032837
Tags
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)
DYRK1B
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes)
  • Abdominal obesity-metabolic syndrome 3, 615812
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)
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)
MAFA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Insulinomatosis and diabetes mellitus, OMIM #:147630
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)
MT-TS2
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TS2-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-TT
2 reviews
1 green 		MITOCHONDRIAL
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TT-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-TV
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TV-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-TW
1 review
1 green 		MITOCHONDRIAL
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mitochondrial disease (MONDO:0044970), MT-TW-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)
POC1A
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894
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)
RNU6ATAC
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254, RNU6ATAC-related
  • neonatal diabetes
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)
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)
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)
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)
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
3 reviews
3 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
  • refuted
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)
HAMP
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Hemochromatosis, type 2B 613313
Tags
Red Red List (low evidence)
HFE
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • haemochromatosis type 1 MONDO:0021001
Tags
Red Red List (low evidence)
HFE2
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Hemochromatosis, type 2A, 602390
Tags
  • new gene name
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)
SLC40A1
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Hemochromatosis, type 4, MIM# 606069
Tags
Red Red List (low evidence)
TFR2
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Hemochromatosis, type 3 604250
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

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