Green
Green List (high evidence)
|
|
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
Green List (high evidence)
|
|
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
Green List (high evidence)
|
|
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
Green List (high evidence)
|
|
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
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
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
Green List (high evidence)
|
|
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
Green List (high evidence)
|
|
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
Green List (high evidence)
|
|
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)
|
|
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
Green List (high evidence)
|
|
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
Green List (high evidence)
|
|
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
Green List (high evidence)
|
|
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
Green List (high evidence)
|
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
Green List (high evidence)
|
|
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
Green List (high evidence)
|
|
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
Green List (high evidence)
|
|
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
Green List (high evidence)
|
|
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
Green List (high evidence)
|
|
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
Green List (high evidence)
|
|
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
Green List (high evidence)
|
|
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
Green List (high evidence)
|
|
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
Green List (high evidence)
|
|
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
Green List (high evidence)
|
|
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
Green List (high evidence)
|
|
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
Green List (high evidence)
|
|
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
Green List (high evidence)
|
|
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
Green List (high evidence)
|
|
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
Amber List (moderate evidence)
|
|
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
Red List (low evidence)
|
|
6 reviews
1 green
3 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review
-
Expert Review Red
-
NHS GMS
Phenotypes
- neonatal diabetes mellitus
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
NHS GMS
-
Other
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- neonatal hyperglycaemia, Primary Coenzyme Q10 Deficiency
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Primary Coenzyme Q10 Deficiency
- neonatal hyperglycaemia
Tags
|
Red
Red List (low evidence)
|
|
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
Red List (low evidence)
|
|
2 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- lipoprotein lipase deficiency
- transient neonatal diabetes
Tags
|