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  1. Panels
  2. DEMO Diabetes neonatal onset
This Panel is marked as Internal

DEMO Diabetes neonatal onset (Version 1.4)

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Description
This is a panel created as a demo version.

Eligibility criteria would be displayed here to help guide the content of the panel.
Panel Activity

10 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

  • 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

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

35 Entities

35 reviewed, 28 green

List Entity Reviews Mode of inheritance Details
35 Entitiess
Green List (high evidence)
BSCL2
4 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, 269700
Tags
Green List (high evidence)
EIF2AK3
4 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 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
  • hypogonadism
  • MEHMO syndrome (X-linked NDM and microcephaly),300148
  • microcephaly
  • intellectual disability
  • epilepsy
  • central obesity
  • hypogenitalism
Tags
Green List (high evidence)
FOXP3
4 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
  • IPEX syndrome
  • Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (includes Insulin-dependent diabetes mellitus (type I))
Tags
Green List (high evidence)
G6PD
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • hemolytic anaemia
Tags
  • treatable
Green List (high evidence)
GATA4
5 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 melllitus
  • permanent neonatal diabetes melllitus
  • Neonatal diabetes, Pancreatic agenesis and/or congenital heart defects
Tags
Green List (high evidence)
GATA6
4 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
  • Pancreatic agenesis and congenital heart defects, 600001
  • neonatal diabetes mellitus
Tags
Green List (high evidence)
GCK
6 reviews
3 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
  • Permanent neonatal diabetes
  • MODY, type II, 125851
  • Permanent Neonatal Diabetes Mellitus
  • Transient Neonatal Diabetes, Recessive
  • Diabetes mellitus, permanent neonatal, 606176
  • Diabetes mellitus, noninsulin-dependent, late onset, 125853
  • Fasting hyperglycaemia, permanent neonatal diabetes
  • Hyperinsulinemic hypoglycemia, familial, 3, 602485
  • Diabetes mellitus, gestational, 125851
Tags
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 List (high evidence)
HNF1B
6 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
  • UKGTN
Phenotypes
  • permanent neonatal diabetes mellitus
  • Transient neonatal diabetes, pancreatic atrophy, mild exocrine insufficiency and low BW
  • Diabetes mellitus, noninsulin-dependent, 125853
  • Transient neonatal diabetes
  • transient neonatal diabetes mellitus (TNDM)
Tags
Green List (high evidence)
IER3IP1
4 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 List (high evidence)
INS
5 reviews
3 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
  • Permanent Neonatal diabetes mellitus
  • Diabetes mellitus, permanent neonatal, 606176
  • Maturity-onset diabetes of the young, type 10, 613370
  • Hyperproinsulinemia, familial, with or without diabetes
  • Transient Neonatal Diabetes, Dominant/Recessive
  • Diabetes mellitus, insulin-dependent, 2, 125852
  • Diabetes mellitus, type 1, 125852
Tags
Green List (high evidence)
INSR
5 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Donohue syndrome, 246200
  • neonatal diabetes
Tags
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
  • Transient neonatal diabetes mellitus
Tags
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
  • Transient Neonatal Diabetes, Dominant
  • Isolated permanent neonatal diabetes
  • Diabetes Mellitus, Transient Neonatal, 3
  • Diabetes Mellitus, PermanentNeonatal
  • Transient Neonatal diabetes mellitus (Dominant)
  • Diabetes mellitus, permanent neonatal, with neurologic features, 606176
  • isolated transient neonatal diabetes, neonatal diabetes and developmental delay
  • {Diabetes mellitus, type 2, susceptibility to}, 125853
  • Diabetes, permanent neonatal, 606176
  • Hyperinsulinemic hypoglycemia, familial, 2, 601820
  • Diabetes mellitus, transient neonatal, 3, 610582
Tags
Green List (high evidence)
LRBA
5 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
  • Neonatal diabetes and additional autoimmunity
Tags
Green List (high evidence)
MNX1
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
  • UKGTN
Phenotypes
  • IUGR
  • Neonatal Diabetes
  • w w/o eatures of Currarrino syndrome and sacral agenesis
  • Permanent neonatal diabetes mellitus (PNDM)
  • Recessive Neonatal diabetes
  • Currarino syndrome, 176450
Tags
Green List (high evidence)
NEUROD1
5 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
  • Maturity-onset diabetes of the young 6, 606394
  • Neonatal diabetes and cerebellar agenesis, rocker bottom feet, poorly developed renal cortex and medulla, sacral agenesis, high imperforate anus
Tags
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
  • Syndromic neonatal diabetes with malabsorptive diarrhea (neurointestinal dysplasia, intrahepatic bilary tract, abnormalities of thyroid gland and CNS)
  • congenital malabsorptive diarrhea and neonatal diabetes
  • Permanent neonatal diabetes and enteric anendocrinosis
Tags
Green List (high evidence)
NKX2-2
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
  • UKGTN
Phenotypes
  • Neonatal diabetes
  • Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment
Tags
Green List (high evidence)
PDX1
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
  • UKGTN
Phenotypes
  • pancreas agenesis
  • Permanent neonatal diabetes
  • permanent neonatal diabetes mellitus associated with pancreas agenesis
  • Pancreatic agenesis 1, 260370
Tags
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
  • Permanent neonatal diabetes with cerebellar agenesis
  • Permanent neonatal diabetes mellitus (PNDM)
  • Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069
Tags
Green List (high evidence)
RFX6
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
  • UKGTN
Phenotypes
  • pancreatic hypoplasia, gallbladder aplasia and intestinal atresia
  • Mitchell-Riley syndrome, 615710 (includes neonatal diabetes)
  • Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities
  • Mitchell-Riley syndrome
  • Syndromic Neonatal diabetes
Tags
Green List (high evidence)
SLC19A2
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
  • UKGTN
Phenotypes
  • Thiamine responsive megaloblastic anaemia
  • Thiamine-responsive megaloblastic anemia syndrome, 249270
  • neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia (TRMA)
  • permanent neonatal diabetes (PNDM)
  • neonatal diabetes
Tags
Green List (high evidence)
SLC2A2
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
  • UKGTN
Phenotypes
  • hepatomegaly, RTA and hypophosphatemic rickets
  • Fanconi-Bickel syndrome, 227810
  • neonatal diabetes mellitus
  • transient neonatal diabetes mellitus (TNDM)
  • short stature
  • Fanconi Bickel Syndrome
  • permanent neonatal diabetes (PDNM)
  • neonatal diabetes
Tags
Green List (high evidence)
STAT3
5 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
  • Neonatal diabetes and early-onset multi-organ autoimmune disease
  • permanent neonatal diabetes
Tags
Green List (high evidence)
WFS1
6 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Wolfram syndrome, 222300
  • Syndromic neonatal diabetes
Tags
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
  • Transient Neonatal Diabetes, Recessive
Tags
Amber List (moderate evidence)
ABCC8
4 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Transient Neonatal Diabetes, Dominant
  • Isolated permanent neonatal diabetes
  • Diabetes mellitus, noninsulin-dependent, 125853
  • Diabetes mellitus, transient neonatal 2, 610374
  • Permanent Neonatal Diabetes Mellitus
  • Hyperinsulinemic hypoglycemia, familial, 1, 256450
  • transient neonatal diabetes (Dominant)
  • Diabetes mellitus, permanent neonatal, 606176
  • isolated transient neonatal diabetes, neonatal diabetes and developmental delay
  • Permanent neonatal diabetes mellitus
  • Hypoglycemia of infancy, leucine-sensitive, 240800
Tags
Red List (low evidence)
AGPAT2
6 reviews
1 green 3 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
  • NHS GMS
Phenotypes
  • neonatal diabetes mellitus
Tags
Red List (low evidence)
CISD2
3 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Other
Tags
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 List (low evidence)
COQ9
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Primary Coenzyme Q10 Deficiency
  • neonatal hyperglycaemia
Tags
Red List (low evidence)
IL2RA
5 reviews
2 green 1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Neoantal diabetes, congenital hypothyrodism (multiple autoimmune) Recessive
  • IPEX-like syndrome
  • insulin-dependent diabetes mellitus at 8-weeks
  • {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942
  • neonatal diabetes
Tags
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

  • 2019-12-03 06:35 Ellen McDonagh (Genomics England Curator) promoted panel to 1.0
    Panel revised based on expert review.

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  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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