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 'R143 Neonatal 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 'R143 Neonatal diabetes'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

6 reviewers

  • Sian Ellard (University of Exeter Medical School)

    Group: other
    Workplace: other

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Elisa De Franco (University of Exeter Medical School)

    Group: Other
    Workplace: Research lab

  • 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

34 Entities

33 reviewed, 28 green

List Entity Reviews Mode of inheritance Details
34 Entitiess
Green Green List (high evidence)
ABCC8
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial, 1, 256450
  • Hypoglycemia of infancy, leucine-sensitive, 240800
  • Diabetes mellitus, transient neonatal 2, 610374
  • Diabetes mellitus, noninsulin-dependent, 125853
  • Diabetes mellitus, permanent neonatal, 606176
  • Permanent Neonatal Diabetes Mellitus
  • Transient Neonatal Diabetes, Dominant
  • Permanent neonatal diabetes mellitus
  • transient neonatal diabetes (Dominant)
Tags
Green Green List (high evidence)
BSCL2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Congenital generalised lipodystrophy, severe insulin resistance and diabetes
Tags
Green Green List (high evidence)
EIF2AK3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
  • UKGTN
Phenotypes
  • Wolcott-Rallison syndrome, 226980 (includes onset of diabetes in neonatal period/ early infancy)
Tags
Green Green List (high evidence)
FOXP3
3 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
  • UKGTN
Phenotypes
  • Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (includes Insulin-dependent diabetes mellitus (type I))
  • IPEX syndrome
Tags
Green Green List (high evidence)
GATA4
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
  • UKGTN
Phenotypes
  • Neonatal diabetes, Pancreatic agenesis and/or congenital heart defects
  • permanent neonatal diabetes melllitus
  • transient neonatal diabetes melllitus
Tags
  • deletions
Green Green List (high evidence)
GATA6
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
  • UKGTN
Phenotypes
  • Pancreatic agenesis and congenital heart defects, 600001
  • neonatal diabetes mellitus
Tags
  • mosaicism
Green Green List (high evidence)
GCK
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • MODY, type II, 125851
  • Diabetes mellitus, noninsulin-dependent, late onset, 125853
  • Diabetes mellitus, gestational, 125851
  • Hyperinsulinemic hypoglycemia, familial, 3, 602485
  • Diabetes mellitus, permanent neonatal, 606176
  • Permanent Neonatal Diabetes Mellitus
  • Transient Neonatal Diabetes, Recessive
  • Permanent neonatal diabetes
Tags
Green Green List (high evidence)
GLIS3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199
  • Neonatal Diabetes mellitus with congenital hypothyroidism
Tags
Green Green List (high evidence)
HNF1B
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
  • UKGTN
Phenotypes
  • Transient neonatal diabetes
  • transient neonatal diabetes mellitus (TNDM)
  • permanent neonatal diabetes mellitus
  • Diabetes mellitus, noninsulin-dependent, 125853
Tags
  • mosaicism
Green Green List (high evidence)
IER3IP1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
  • UKGTN
Phenotypes
  • Microcephaly, epilepsy and diabetes syndrome, 614231
  • neonatal diabetes
  • permanent neonatal diabetes
Tags
Green Green List (high evidence)
IL2RA
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • neonatal diabetes
  • insulin-dependent diabetes mellitus at 8-weeks
  • IPEX-like syndrome
  • {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942
Tags
Green Green List (high evidence)
INS
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hyperproinsulinemia, familial, with or without diabetes
  • Maturity-onset diabetes of the young, type 10, 613370
  • Diabetes mellitus, permanent neonatal, 606176
  • Diabetes mellitus, type 1, 125852
  • Diabetes mellitus, insulin-dependent, 2, 125852
  • Transient Neonatal Diabetes, Dominant/Recessive
  • Permanent Neonatal diabetes mellitus
Tags
Green Green List (high evidence)
INSR
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • neonatal diabetes
Tags
Green Green List (high evidence)
6q24 region (includes PLAGL1) Gain
ISCA-37442-Gain
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • 601410
  • Transient neonatal diabetes mellitus
  • Transient neonatal diabetes
Tags
Green Green List (high evidence)
KCNJ11
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial, 2, 601820
  • Diabetes, permanent neonatal, 606176
  • Diabetes mellitus, permanent neonatal, with neurologic features, 606176
  • {Diabetes mellitus, type 2, susceptibility to}, 125853
  • Diabetes mellitus, transient neonatal, 3, 610582
  • Transient Neonatal Diabetes, Dominant
  • Diabetes Mellitus, PermanentNeonatal
  • Diabetes Mellitus, Transient Neonatal, 3
  • Transient Neonatal diabetes mellitus (Dominant)
Tags
Green Green List (high evidence)
LRBA
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Immunodysregulation and type 1 diabetes
  • Immunodeficiency, common variable, 8, with autoimmunity, 614700
  • IPEX-like syndrome
Tags
Green Green List (high evidence)
MNX1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
  • UKGTN
Phenotypes
  • Neonatal Diabetes
  • Permanent neonatal diabetes mellitus (PNDM)
Tags
Green Green List (high evidence)
NEUROD1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
  • UKGTN
Phenotypes
  • Permanent neonatal diabetes and cerebellar agenesis
Tags
Green Green List (high evidence)
NEUROG3
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
  • UKGTN
Phenotypes
  • Permanent neonatal diabetes and enteric anendocrinosis
  • congenital malabsorptive diarrhea and neonatal diabetes
Tags
Green Green List (high evidence)
NKX2-2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
  • UKGTN
Phenotypes
  • Neonatal diabetes
Tags
Green Green List (high evidence)
PDX1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
  • UKGTN
Phenotypes
  • Permanent neonatal diabetes
  • pancreas agenesis
  • permanent neonatal diabetes mellitus associated with pancreas agenesis
  • Pancreatic agenesis 1, 260370
Tags
Green Green List (high evidence)
PTF1A
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069
  • Permanent neonatal diabetes mellitus (PNDM)
  • Permanent neonatal diabetes with cerebellar agenesis
Tags
Green Green List (high evidence)
RFX6
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
  • UKGTN
Phenotypes
  • Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities
  • Mitchell-Riley syndrome, 615710 (includes neonatal diabetes)
Tags
Green Green List (high evidence)
SLC19A2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
  • UKGTN
Phenotypes
  • Thiamine-responsive megaloblastic anemia syndrome, 249270
  • neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia (TRMA)
  • permanent neonatal diabetes (PNDM)
Tags
Green Green List (high evidence)
SLC2A2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
  • UKGTN
Phenotypes
  • Fanconi-Bickel syndrome, 227810
  • neonatal diabetes mellitus
  • transient neonatal diabetes mellitus (TNDM)
  • permanent neonatal diabetes (PDNM)
Tags
Green Green List (high evidence)
STAT3
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
  • UKGTN
Phenotypes
  • Neonatal diabetes and additional multi-organ autoimmunity
  • permanent neonatal diabetes
Tags
Green Green List (high evidence)
WFS1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Syndromic neonatal diabetes
Tags
Green Green List (high evidence)
ZFP57
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Diabetes mellitus, transient neonatal, 1, 601410
  • Transient Neonatal Diabetes, Recessive
  • Transient Neonatal Diabetes
Tags
Green Green List (high evidence)
EIF2S3
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • diabetes
  • intellectual disability
  • microcephaly
  • epilepsy
  • hypogonadism
  • hypogenitalism
  • central obesity
Tags
Red Red List (low evidence)
AGPAT2
5 reviews
2 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
  • NHS GMS
Phenotypes
  • neonatal diabetes mellitus
Tags
Red Red List (low evidence)
CISD2
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Other
Tags
Red Red List (low evidence)
COQ2
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • neonatal hyperglycaemia, Primary Coenzyme Q10 Deficiency
Tags
Red Red List (low evidence)
COQ9
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • neonatal hyperglycaemia
  • Primary Coenzyme Q10 Deficiency
Tags
Red Red List (low evidence)
LPL
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • lipoprotein lipase deficiency
  • transient neonatal diabetes
Tags

Major version comments

Downloads

Download lists

Download Version