Description
Insulin resistance inclusion criteria (30562)
- Diagnosis of diabetes <25 years AND
- Not insulin dependent (>=3 years without insulin treatment) AND
- Non-obese (BMI <30) AND
- Acanthosis nigricans AND
- Biochemical confirmation of severe insulin resistance.

Insulin resistance exclusion criteria (30562)
- One or more pancreatic autoantibodies (GAD, IA2, ICA) positive (titre >99th
population centile)

Prior genetic testing guidance (30562)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Closing statement (30562)
These requirements will be kept under continual review during the main programme and may be subject to change.

Insulin resistant prior genetic testing genes (30562)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 - LMNA if partial lipodystrophy phenotype

5 reviewers

  • Robert Semple (University of Cambridge)

    Group: GeCIP domain
    Workplace: Research lab

  • David Savage (IMS MRL, Uni. Cambridge)

    Group: GeCIP domain
    Workplace: Research lab

  • 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

26 Entities

26 reviewed, 15 green

List Entity Reviews Mode of inheritance Details
26 Entitiess
Green Green List (high evidence)
AGPAT2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Lipodystrophy, congenital generalized, type 1, 608594
Tags
Green Green List (high evidence)
ALMS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Alstrom syndrome 203800
Tags
Green Green List (high evidence)
BLM
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bloom syndrome 210900
Tags
Green Green List (high evidence)
BSCL2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Lipodystrophy, congenital generalized, type 2, 269700
Tags
Green Green List (high evidence)
CAVIN1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lipodystrophy, congenital generalized, type 4, 613327
Tags
Green Green List (high evidence)
INSR
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549
  • Leprechaunism, 246200
  • Rabson-Mendenhall syndrome, 262190
Tags
Green Green List (high evidence)
LIPE
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Tags
Green Green List (high evidence)
LMNA
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Lipodystrophy, familial partial, 2, 151660
Tags
Green Green List (high evidence)
PCNT
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Microcephalic osteodysplastic primordial dwarfism, type II 210720
  • Osteodysplastic Primordial Dwarfism of Majewski Tyoe 2
  • Severe Insulin Resistance
Tags
Green Green List (high evidence)
PCYT1A
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spondylometaphyseal dysplasia with cone-rod dystrophy 608940
Tags
Green Green List (high evidence)
PIK3R1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • UKGTN
Phenotypes
  • SHORT syndrome 269880
Tags
Green Green List (high evidence)
POLD1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381
Tags
Green Green List (high evidence)
PPARG
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Insulin resistance, severe, digenic 604367
  • Lipodystrophy, familial partial, type 3 604367
Tags
Green Green List (high evidence)
WRN
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Werner syndrome 277700
Tags
Green Green List (high evidence)
ZMPSTE24
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mandibuloacral dysplasia with type B lipodystrophy, 608612
Tags
Amber Amber List (moderate evidence)
PLIN1
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lipodystrophy, familial partial, type 4, 613877
Tags
Red Red List (low evidence)
ADRA2A
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
Phenotypes
  • No OMIM number
  • familial partial lipodystrophy
Tags
Red Red List (low evidence)
AGPS
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lipodystrophy, congenital generalized, type 1, 608594
Tags
Red Red List (low evidence)
AKT2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diabetes mellitus, type II 125853
Tags
Red Red List (low evidence)
CAV1
3 reviews
2 red
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lipodystrophy, congenital generalized, type 3, 612526
  • Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome 606721
Tags
Red Red List (low evidence)
CIDEC
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Literature
Phenotypes
  • Lipodystrophy, familial partial, type 5 615238
Tags
Red Red List (low evidence)
FGFR3
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hypochondroplasia, 146000
  • Crouzon syndrome with acanthosis nigricans, 612247
Tags
Red Red List (low evidence)
NSMCE2
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Dwarfism with extreme insulin resistance and acanthosis nigricans
Tags
Red Red List (low evidence)
POC1A
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813
Tags
Red Red List (low evidence)
PPP1R3A
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Insulin resistance, severe, digenic 125853
Tags
Red Red List (low evidence)
PSMB8
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040
Tags

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