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'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

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 signed off version number. 

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
Panel Activity

9 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

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • 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

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

41 Entities

41 reviewed, 32 green

List Entity Reviews Mode of inheritance Details
41 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, OMIM:256450
  • Hypoglycemia of infancy, leucine-sensitive, OMIM:240800
  • Diabetes mellitus, transient neonatal 2, OMIM:610374
  • Diabetes mellitus, noninsulin-dependent, OMIM:125853
  • Diabetes mellitus, permanent neonatal 3, with or without neurologic features, OMIM:618857
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
  • Neonatal diabetes and generalised lipodystrophy
  • Lipodystrophy, congenital generalized, type 2, OMIM:269700
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, OMIM:226980 (includes onset of diabetes in neonatal period/ early infancy)
Tags
Green Green List (high evidence)
EIF2B1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Permanent neonatal/early onset diabetes and transient liver dysfunction
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 mellitus (disease), MONDO:0005015
  • MEHMO syndrome, OMIM:300148
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, OMIM:304790 (includes Insulin-dependent diabetes mellitus (type I))
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
  • Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, MONDO:0010802
  • permanent neonatal diabetes melllitus, MONDO:0100164
  • Transient neonatal diabetes mellitus (disease), MONDO:0020525
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, OMIM:600001
  • neonatal diabetes mellitus, MONDO:0016391
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, OMIM:125851
  • Diabetes mellitus, noninsulin-dependent, late onset, OMIM:125853
  • Hyperinsulinemic hypoglycemia, familial, 3, OMIM:602485
  • Diabetes mellitus, permanent neonatal 1, OMIM:606176
  • Transient Neonatal Diabetes Mellitus (disease), MONDO:0020525 (recessive)
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, OMIM:610199
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 mellitus (disease), MONDO:0020525
  • permanent neonatal diabetes mellitus, MONDO:0100164
  • Type 2 diabetes mellitus, OMIM:125853
  • transient neonatal diabetes, pancreatic atrophy, mild exocrine insufficiency and low BW
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, OMIM:614231
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 mellitus, MONDO:0016391
  • insulin-dependent diabetes mellitus at 8-weeks
  • IPEX-like syndrome
  • {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, OMIM:601942
  • neonatal diabetes mellitus with congenital hypothyroidism, MONDO:0012436
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, OMIM:616214
  • Maturity-onset diabetes of the young, type 10, 613370
  • Diabetes mellitus, insulin-dependent, 2, 125852
  • Transient Neonatal Diabetes Mellitus (disease), MONDO:0020525 (Dominant/Recessive)
  • Permanent Neonatal diabetes mellitus, MONDO:010016
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
  • Donohue syndrome, OMIM:246200, Hyperinsulinemic hypoglycemia, familial, 5, OMIM:609968
  • Rabson-Mendenhall syndrome, OMIM:262190
Tags
Green Green List (high evidence)
6q24 region (includes PLAGL1) Gain
ISCA-37442-Gain
Region
1 review
 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
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 2, with or without neurologic features, OMIM:618856
  • {Diabetes mellitus, type 2, susceptibility to}, OMIM:125853
  • Diabetes mellitus, transient neonatal, 3, OMIM:610582
  • Maturity-onset diabetes of the young, type 13, OMIM:616329
Tags
Green Green List (high evidence)
LRBA
4 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700
  • IPEX-like syndrome
  • Neonatal diabetes and additional autoimmunity
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 Mellitus, MONDO:0016391
  • Permanent neonatal diabetes mellitus, MONDO:0100164
  • Currarino syndrome, OMIM:176450
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 mellitus-pancreatic and cerebellar agenesis syndrome, MONDO:0012192
  • Maturity-onset diabetes of the young 6, OMIM:606394
  • Neonatal diabetes and cerebellar agenesis, rocker bottom feet, poorly developed renal cortex and medulla, sacral agenesis, high imperforate anus
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 mellitus, MONDO:0100164
  • Diarrhea 4, malabsorptive, congenital, OMIM:610370
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 mellitus, MONDO:0016391
  • Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment
Tags
  • gene-checked
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
  • Pancreatic agenesis 1, OMIM:260370
  • MODY, type IV, OMIM:606392
  • Permanent neonatal diabetes mellitus, MONDO:0100164
  • permanent neonatal diabetes mellitus associated with pancreas agenesis
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
  • Pancreatic and cerebellar agenesis, OMIM:609069
  • Permanent neonatal diabetes mellitus, MONDO:0100164
  • Pancreatic agenesis 2, OMIM:615935
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
  • Mitchell-Riley syndrome, OMIM: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, OMIM:249270
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, OMIM:227810
  • neonatal diabetes mellitus, MONDO:0016391
  • transient neonatal diabetes mellitus (disease), MONDO:0020525
  • permanent neonatal diabetes mellitus, MONDO:0100164
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
  • Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952
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
  • Wolfram-like syndrome, autosomal dominant, OMIM:614296
Tags
Green Green List (high evidence)
YIPF5
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome 2, OMIM:619278
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, OMIM:601410
Tags
Green Green List (high evidence)
ZNF808
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • neonatal diabetes mellitus, MONDO:0016391
  • pancreatic agenesis, MONDO:0009832
Tags
  • gene-checked
Amber Amber List (moderate evidence)
CNOT1
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review
  • Expert Review Amber
Phenotypes
  • Holoprosencephaly 12, with or without pancreatic agenesis, OMIM:618500
  • holoprosencephaly 12 with or without pancreatic agenesis, MONDO:0032787
Tags
  • to_be_confirmed_NHSE
Amber Amber List (moderate evidence)
FICD
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review
  • Expert Review Amber
Phenotypes
  • Neonatal diabetes
  • Neonatal insulin-dependent diabetes mellitus, HP:0000857
  • severe neurodevelopmental delay, HP:0012758
  • skeletal abnormalities.
Tags
  • watchlist
Amber Amber List (moderate evidence)
ONECUT1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review
  • Expert Review Amber
Phenotypes
  • ONECUT1-associated neonatal diabetes
  • neonatal diabetes mellitus, MONDO:0016391
Tags
  • to_be_confirmed_NHSE
Amber Amber List (moderate evidence)
PDIA6
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes
Tags
Red Red List (low evidence)
AGPAT2
5 reviews
1 green 3 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
  • NHS GMS
Phenotypes
  • neonatal diabetes mellitus, MONDO:0016391
Tags
Red Red List (low evidence)
CISD2
3 reviews
2 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