Description
This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R141 Monogenic diabetes' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R141 Monogenic diabetes'.

The content of this panel (version 2.2: https://panelapp.genomicsengland.co.uk/api/v1/panels/472/?version=2.2) was signed off under NHS Genomic Medicine Service governance on (25/02/2020).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated version number. 

The original panel was comprised of the following 3 gene panels: 
- Diabetes with additional phenotypes suggestive of a monogenic aetiology (v1.55 code 26)
- Familial diabetes (v1.13 code 152)
- Insulin resistance (including lipodystrophy) (v1.4 code 174).

7 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Ellen Thomas (Genomics England)

    Group: other
    Workplace: other

  • Sian Ellard (University of Exeter Medical School)

    Group: other
    Workplace: other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Jayne Houghton (Royal Devon and Exeter Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

78 Entities

74 reviewed, 35 green

List Entity Reviews Mode of inheritance Details
78 Entitiess
Green Green List (high evidence)
ABCC8
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Transient Neonatal Diabetes Mellitus, MONDO:0020525 (dominant)
  • Diabetes mellitus, noninsulin-dependent, OMIM:125853
  • Diabetes mellitus, transient neonatal 2, OMIM:610374
  • Hyperinsulinemic hypoglycemia, familial, 1, OMIM:256450
  • Hypoglycemia of infancy, leucine-sensitive, OMIM:240800
  • Permanent Neonatal Diabetes Mellitus, MONDO:0100164(recessive)
Tags
Green Green List (high evidence)
AKT2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Diabetes mellitus, type II, OMIM:125853
  • Type 2 diabetes mellitus, MONDO:0005148
Tags
Green Green List (high evidence)
APPL1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Maturity-onset diabetes of the young, type 14}, OMIM:616511
Tags
Green Green List (high evidence)
CEL
4 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Maturity-onset diabetes of the young, type VIII, OMIM:609812
  • Diabetes and pancreatic exocrine dysfunction
Tags
Green Green List (high evidence)
CISD2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Wolfram syndrome 2, OMIM:604928
Tags
Green Green List (high evidence)
DCAF17
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Woodhouse-Sakati syndrome, OMIM:241080
Tags
Green Green List (high evidence)
DNAJC3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, OMIM:616192
  • juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, MONDO:0014523
Tags
Green Green List (high evidence)
DYRK1B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Abdominal obesity-metabolic syndrome 3, OMIM:615812
Tags
Green Green List (high evidence)
GATA4
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • NEONATAL DIABETES MELLITUS, MONDO:0016391
  • Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, MONDO:0010802
  • Metabolic syndrome, MONDO:0004955 (coronary artery disease, hypertension, central obesity and diabetes)
Tags
Green Green List (high evidence)
GATA6
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OMIM:600001
  • Metabolic syndrome, MONDO:0004955 (coronary artery disease, hypertension, central obesity and diabetes)
Tags
Green Green List (high evidence)
GCK
4 reviews
3 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial, 3, OMIM:602485
  • Diabetes mellitus, noninsulin-dependent, late onset, OMIM:125853
  • MODY, type II, OMIM:125851
  • Diabetes mellitus, permanent neonatal 1, OMIM:606176
Tags
Green Green List (high evidence)
HNF1A
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
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
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • transient neonatal diabetes mellitus (disease), MONDO:0020525
  • Type 2 diabetes mellitus, OMIM:125853
  • maturity-onset diabetes of the young (disease), MONDO:0018911
Tags
Green Green List (high evidence)
HNF4A
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Diabetes mellitus, noninsulin-dependent}, OMIM:125853
  • MODY, type I , OMIM:125850
  • Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026
Tags
Green Green List (high evidence)
INS
4 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Maturity-onset diabetes of the young, type 10, OMIM:613370
  • Diabetes mellitus, permanent neonatal 4, OMIM:618858
  • Diabetes mellitus, insulin-dependent, 2, OMIM:125852
  • Hyperproinsulinemia, OMIM:616214
Tags
Green Green List (high evidence)
INSR
4 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans, OMIM:610549
  • Hyperinsulinemic hypoglycemia, familial, 5, OMIM:609968
  • Leprechaunism, OMIM:246200
  • Rabson-Mendenhall syndrome, OMIM:262190
Tags
Green Green List (high evidence)
KCNJ11
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Diabetes mellitus, transient neonatal, 3, OMIM:610582
  • Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856
  • Hyperinsulinemic hypoglycemia, familial, 2, OMIM:601820
  • Maturity-onset diabetes of the young, type 13, OMIM:616329
Tags
Green Green List (high evidence)
LMNA
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Lipodystrophy, familial partial, type 2, OMIM:151660
  • Severe insulin resistance, partial lipodystrophy and diabetes
Tags
Green Green List (high evidence)
MT-TL1
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • maternally-inherited diabetes and deafness, MONDO:0010785
Tags
Green Green List (high evidence)
NEUROD1
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Maturity-onset diabetes of the young 6, OMIM:606394
  • {Type 2 diabetes mellitus, susceptibility to}, OMIM:125853
Tags
Green Green List (high evidence)
PAX6
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • diabetes mellitus (disease), MONDO:0005015
Tags
Green Green List (high evidence)
PCBD1
5 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070
Tags
Green Green List (high evidence)
PDX1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pancreatic agenesis 1, OMIM:260370
  • MODY, type IV, OMIM:606392
Tags
Green Green List (high evidence)
PIK3R1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • SHORT syndrome, OMIM:269880
Tags
Green Green List (high evidence)
PLIN1
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Lipodystrophy, familial partial, type 4, OMIM:613877
Tags
Green Green List (high evidence)
POLD1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381
Tags
Green Green List (high evidence)
PPARG
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Lipodystrophy, familial partial, type 3, OMIM:604367
  • Insulin resistance, severe, digenic, OMIM:604367
  • Obesity, severe, OMIM:601665
  • {Diabetes, type 2}, OMIM:125853
Tags
Green Green List (high evidence)
PPP1R15B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Microcephaly, short stature, and impaired glucose metabolism 2, OMIM:616817
Tags
Green Green List (high evidence)
RFX6
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitchell-Riley syndrome, OMIM:615710
Tags
Green Green List (high evidence)
SLC29A3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
Tags
Green Green List (high evidence)
TRMT10A
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Microcephaly, short stature, and impaired glucose metabolism 1, OMIM:616033
Tags
Green Green List (high evidence)
WFS1
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Wolfram-like syndrome, autosomal dominant, OMIM:614296
  • Wolfram syndrome 1, OMIM:222300
  • {Diabetes mellitus, noninsulin-dependent, association with}, OMIM:125853
Tags
Green Green List (high evidence)
ZBTB20
4 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • diabetes mellitus (disease), MONDO:0005015
Tags
Green Green List (high evidence)
ZFP57
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • transient neonatal diabetes mellitus (disease), MONDO:0020525
  • Diabetes mellitus, transient neonatal, 1, OMIM:601410
Tags
Green Green List (high evidence)
ZMPSTE24
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mandibuloacral dysplasia with type B lipodystrophy, OMIM:608612
Tags
Red Red List (low evidence)
AGPS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Lipodystrophy, congenital generalized, type 1, 608594
Tags
Red Red List (low evidence)
CAV1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Lipodystrophy, congenital generalized, type 3, 612526
  • Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
Tags
Red Red List (low evidence)
CIDEC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Lipodystrophy, familial partial, type 5
Tags
No list No list
AGPAT2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Lipodystrophy, congenital generalized, type 1, 608594
  • lipodystrophy
Tags
  • curated_removed
No list No list
ALMS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Alstrom syndrome
Tags
  • curated_removed
No list No list
BLK
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
Phenotypes
  • Maturity-onset diabetes of the young, type 11, 613375
  • Maturity Onset Diabetes of the Young
Tags
  • curated_removed
No list No list
BLM
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Bloom syndrome
Tags
  • curated_removed
No list No list
BSCL2
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Berardinelli-Seip congenital lipodystrophy
  • Lipodystrophy, congenital generalized, type 2, 269700
Tags
  • curated_removed
No list No list
CAVIN1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Lipodystrophy, congenital generalized, type 4, 613327
Tags
  • curated_removed
No list No list
DMXL2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
Phenotypes
  • ORPHA90636
  • OMIM:612186
  • Sensorineural Hearing Loss
Tags
  • curated_removed
No list No list
EIF2AK3
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Wolcott-Rallison syndrome
  • Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus
Tags
  • curated_removed
No list No list
ENPP1
3 reviews
2 red
Unknown
Sources
  • Expert Review Removed
Phenotypes
  • Ossification of posterior longitudinal ligament of spine, 602475{Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853{Obesity, susceptibility to}, 601665Arterial calcification, generalized, of infancy, 1, 208000Hypophos
Tags
  • curated_removed
No list No list
FGFR3
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
Phenotypes
  • Hypochondroplasia, 146000
  • Crouzon syndrome with acanthosis nigricans, 612247
Tags
  • curated_removed
No list No list
FOXC2
1 review
1 red
Unknown
Sources
  • Expert Review Removed
Phenotypes
  • Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400
  • Lymphedema-distichiasis syndrome, 153400
Tags
  • curated_removed
No list No list
FOXP3
3 reviews
1 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Removed
Phenotypes
  • {Diabetes mellitus, type I, susceptibility to}, 222100
  • Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790
  • IPEX syndrome
Tags
  • curated_removed
No list No list
GLIS3
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism
  • Neonatal Diabetes mellitus with congenital hypothyroidism
  • Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
  • Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 -3
Tags
  • curated_removed
No list No list
HAMP
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Hemochromatosis, type 2B 613313
Tags
  • curated_removed
No list No list
HFE
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • {Alzheimer disease, susceptibility to}, 104300
  • Hemochromatosis, 235200
  • {Microvascular complications of diabetes 7}, 612635
  • {Porphyria variegata, susceptibility to}, 176200
  • {Porphyria cutanea tarda, susceptibility to}, 176100
Tags
  • curated_removed
No list No list
HFE2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Hemochromatosis, type 2A, 602390
Tags
  • curated_removed
  • new-gene-name
No list No list
IER3IP1
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome, 614231
  • Microcephaly, epilepsy, and diabetes syndrome
  • Microcephaly, epilepsy and diabetes syndrome
Tags
  • curated_removed
No list No list
IL2RA
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Tags
  • curated_removed
No list No list
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss
ISCA-37432-Loss
Region
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
Phenotypes
  • 614527
  • utero-vaginal atresia
  • RCAD syndrome
  • Schizophrenia
  • Chromosome 17q12 deletion syndrome
  • delayed development, intellectual disability
  • global developmental delay
  • Autism Spectrum Disorder
  • Renal cysts and diabetes syndrome
  • Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females
Tags
  • curated_removed
No list No list
KLF11
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
Phenotypes
  • Maturity-onset diabetes of the young, type VII, 610508
  • Maturity Onset Diabetes of the Young
Tags
  • curated_removed
No list No list
LIPC
3 reviews
2 red
Unknown
Sources
  • Expert Review Removed
Phenotypes
  • Hepatic lipase deficiency, 614025
  • [High density lipoprotein cholesterol level QTL 12], 612797
  • {Diabetes mellitus, noninsulin-dependent}, 125853
Tags
  • curated_removed
No list No list
LRBA
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Immunodeficiency, common variable, 8, with autoimmunity
Tags
  • curated_removed
No list No list
MNX1
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Tags
  • curated_removed
No list No list
NEUROG3
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Permanent neonatal diabetes and enteric anendocrinosis
Tags
  • curated_removed
No list No list
NKX2-2
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Tags
  • curated_removed
No list No list
NSMCE2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Dwarfism with extreme insulin resistance and acanthosis nigricans
Tags
  • curated_removed
No list No list
PAX4
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
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
  • curated_removed
No list No list
PCNT
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Microcephalic osteodysplastic primordial dwarfism, type II
Tags
  • curated_removed
No list No list
PCYT1A
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Spondylometaphyseal dysplasia with cone-rod dystrophy
Tags
  • curated_removed
No list No list
POC1A
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
Tags
  • curated_removed
No list No list
PPP1R3A
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
Phenotypes
  • Insulin resistance, severe, digenic
Tags
  • curated_removed
No list No list
PSMB8
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040
Tags
  • curated_removed
No list No list
PTF1A
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Permanent neonatal diabetes mellitus (PNDM)
  • Permanent neonatal diabetes with cerebellar agenesis
  • Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069
Tags
  • curated_removed
No list No list
SLC19A2
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Thiamine-responsive megaloblastic anemia syndrome
  • MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS ROGERS SYNDROME
Tags
  • curated_removed
No list No list
SLC2A2
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • {Diabetes mellitus, noninsulin-dependent}
  • Fanconi-Bickel syndrome
  • Fanconi-Bickel syndrome, 227810
Tags
  • curated_removed
No list No list
SLC40A1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
Phenotypes
  • Hemochromatosis, type 4 606069
Tags
  • curated_removed
No list No list
STAT1
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
Tags
  • curated_removed
No list No list
STAT3
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
Phenotypes
  • Neonatal diabetes and additional multi-organ autoimmunity
Tags
  • curated_removed
No list No list
TFR2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Hemochromatosis, type 3 604250
Tags
  • curated_removed
No list No list
WRN
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Werner syndrome
Tags
  • curated_removed

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