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 is overseen by the NHS Genomic Medicine Service governance.

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).


The content of this panel (version 2.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/472/?version=2.0) was signed off under NHS Genomic Medicine Service governance on (31/07/2019).

This panel will continue to be curated. 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 for the GMS panels.

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
  • Diabetes mellitus, permanent neonatal, 6
  • Transient Neonatal Diabetes, Dominant
  • transient neonatal diabetes (Dominant)
  • Diabetes mellitus, noninsulin-dependent, 125853
  • DIABETES MELLITUS, NONINSULIN-DEPENDENT
  • Diabetes mellitus, transient neonatal 2, 610374
  • Hyperinsulinemic hypoglycemia, familial, 1, 256450
  • Hypoglycemia of infancy, leucine-sensitive, 240800
  • Permanent neonatal diabetes mellitus
  • Permanent Neonatal Diabetes Mellitus (recessive)
  • Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6
  • Permanent Neonatal Diabetes Mellitus
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, 125853
  • Severe insulin resistance, partial lipodystrophy and diabetes
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}, 616511
  • Diabetes
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, 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 2604928
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, 241080
  • Woodhouse-Sakati syndrome (hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness)
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, 616192
  • Autosomal recessive juvenile-onset diabetes with central and peripheral neurodegeneration
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, 615812
  • Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes)
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
  • Pancreatic agenesis and/or congenital heart defects
  • Metabolic syndrome (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
  • PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS
  • Metabolic syndrome (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
  • Transient Neonatal Diabetes, Recessive
  • MODY2
  • Diabetes mellitus, permanent neonatal, 606176
  • Maturity-Onset Diabetes Of The Young
  • Hyperinsulinemic hypoglycemia, familial, 3, 602485
  • Diabetes mellitus, noninsulin-dependent, late onset, 125853
  • Permanent neonatal diabetes
  • MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2
  • Permanent Neonatal Diabetes Mellitus (recessive)
  • Maturity-onset diabetes of the young (MODY)
  • Permanent Neonatal Diabetes Mellitus
  • Maturity Onset Diabetes of the Young (Dominant)
  • Diabetes mellitus, gestational, 125851
  • MODY, type II, 125851
  • Maturity Onset Diabetes of the Young
  • Neonatal diabetes
  • Fasting hyperglycaemia
Tags
Green Green List (high evidence)
HNF1A
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hepatic adenoma, somatic, 142330
  • Maturity-Onset Diabetes Of The Young
  • {Diabetes mellitus, insulin-dependent}, 222100
  • Renal cell carcinoma, 144700
  • 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, insulin-dependent, 20, 612520
  • MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3
  • MODY3
  • Maturity-onset diabetes of the young (MODY)
  • {Diabetes mellitus, noninsulin-dependent, 2}, 125853
  • MODY, type III, 600496
  • Maturity Onset Diabetes of the Young
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
  • Renal Cysts and Diabetes Syndrome
  • Diabetes mellitus, noninsulin-dependent, 125853
  • Maturity-Onset Diabetes Of The Young
  • RCAD
  • renal malformation
  • {Renal cell carcinoma}, 144700
  • Renal cysts and diabetes syndrome, 137920
  • RENAL CYSTS AND DIABETES SYNDROME
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}, 125853
  • Maturity-Onset Diabetes Of The Young, Type 1
  • MODY1, 125850
  • Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 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
  • MODY10
  • Maturity-onset diabetes of the young, type 10, 613370
  • Transient Neonatal Diabetes, Dominant/Recessive
  • Diabetes mellitus, permanent neonatal, 606176
  • Diabetes mellitus, insulin-dependent, 2, 125852
  • MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10
  • Maturity Onset Diabetes of the Young
  • Permanent Neonatal diabetes mellitus
  • Hyperproinsulinemia, familial, with or without diabetes
  • Maturity Onset Diabetes of the Young (Dominant)
  • Diabetes mellitus, type 1, 125852
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
  • Leprechaunism, 246200
  • Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549
  • Rabson-Mendenhall syndrome, 262190
  • Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans
  • OMIM 610549
  • 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
  • Hyperinsulinemic hypoglycemia, familial, 5, 609968
  • DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS
Tags
Green Green List (high evidence)
KCNJ11
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Transient Neonatal diabetes mellitus (Dominant)
  • Transient Neonatal Diabetes, Dominant
  • Diabetes mellitus, transient neonatal, 3, 610582
  • Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive)
  • Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582
  • Diabetes, permanent neonatal, 606176
  • Diabetes mellitus, permanent neonatal, with neurologic features, 606176
  • Maturity Onset Diabetes of the Young
  • {Diabetes mellitus, type 2, susceptibility to}, 125853
  • Hyperinsulinemic hypoglycemia, familial, 2, 601820
  • Transient Neonatal, 3
  • Maturity Onset Diabetes of the Young (Dominant)
  • Diabetes Mellitus, Permanent Neonatal
  • Diabetes mellitus, trans
  • Diabetes Mellitus, Transient Neonatal, 3
Tags
Green Green List (high evidence)
LMNA
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • FPLD2
  • LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
  • Lipodystrophy, familial partial, 2, 151660
  • Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
  • 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
  • MIDD
  • DIABETES AND DEAFNESS, MATERNALLY INHERITED
  • Diabetes-Deafness Syndrome, Maternally Transmitted
  • MELAS syndrome
  • Maternally inherited diabetes
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, 606394
  • MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6
  • {Diabetes mellitus, noninsulin-dependent}, 125853
  • Maturity-Onset Diabetes Of The Young
  • MODY6
  • Permanent neonatal diabetes and cerebellar agenesis
  • Maturity Onset Diabetes of the Young
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
  • Aniridia 106210
  • diabetes
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, 264070
  • Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty)
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
  • MODY4
  • Maturity-Onset Diabetes Of The Young
  • MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4
  • Permanent neonatal diabetes
  • Maturity-onset diabetes of the young (MODY)
  • MODY type IV
  • Recessive neonatal diabetes, pancreatic agenesis and dominant MODY, 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 stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880
  • SHORT syndrome
Tags
Green Green List (high evidence)
PLIN1
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes
  • Lipodystrophy, familial partial, type 4, 613877
  • Severe insulin resistance, partial lipodystrophy and diabetes
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, 615381
  • multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males
  • Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
  • multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males
  • Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 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, 604367
  • FPLD3
  • {Diabetes, type 2}, 125853
  • [Obesity, resistance to]
  • Obesity, severe, 601665
  • Lipodystrophy, familial partial, type 3
  • Insulin resistance, severe, digenic
  • Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension
  • Insulin resistance, severe, digenic 604367
  • Insulin resistance, severe, digenic, 604367
  • LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3
  • Lipodystrophy, familial partial, type 3 604367
  • Carotid intimal medial thickness 1, 609338
Tags
Green Green List (high evidence)
PPP1R15B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability,616817
Tags
Green Green List (high evidence)
RFX6
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities
  • Mitchell-Riley syndrome, 615710
  • recessive syndromic diabetes and autosomal dominant MODY
Tags
Green Green List (high evidence)
SLC29A3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome
  • H syndrome (hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycaemia) and PHID syndrome (pigmented hypertrichosis with insulin dependent diabetes)
  • Histiocytosis-lymphadenopathy plus syndrome,602782
Tags
Green Green List (high evidence)
TRMT10A
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies
  • young onset diabetes, short stature and microcephaly with intellectual disability
  • Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability
  • Microcephaly, short stature, and impaired glucose metabolism 1, 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
  • diabetes insipidus or optic atrophy
  • Wolfram-like syndrome, autosomal dominant, 614296
  • Deafness, autosomal dominant 6/14/38, 600965
  • {Diabetes mellitus, noninsulin-dependent,association with}
  • Deafness,autosomal dominant 6/14/38, 600965
  • Wolfram syndrome, 222300
  • {Diabetes mellitus, noninsulin-dependent, association with}, 125853
  • ?Cataract 41,116400
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
  • Primrose syndrome, 259050
  • Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications)
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, Recessive
  • Diabetes mellitus, transient neonatal, 1, 601410
  • Transient Neonatal Diabetes
Tags
Green Green List (high evidence)
ZMPSTE24
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mandibuloacral dysplasia with type B lipodystrophy, 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
No list No list
ALMS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Alstrom syndrome
Tags
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
No list No list
BLM
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Bloom syndrome
Tags
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
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
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
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
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
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
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
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
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
No list No list
HAMP
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Hemochromatosis, type 2B 613313
Tags
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
No list No list
HFE2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Hemochromatosis, type 2A, 602390
Tags
  • 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
No list No list
IL2RA
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Tags
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
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
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
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
No list No list
MNX1
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Tags
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
No list No list
NKX2-2
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Tags
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
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
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
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
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
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
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
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
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
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
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
No list No list
STAT1
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
Tags
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
No list No list
TFR2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Hemochromatosis, type 3 604250
Tags
No list No list
WRN
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Werner syndrome
Tags

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