Monogenic diabetes (Version 2.57)

The latest signed off version for the GMS is v2.2. The current version, shown here, may differ from the signed-off version.

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 'R141 Monogenic 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 'R141 Monogenic 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.

The original panel was comprised of the following 3 gene panels: 
- Diabetes with additional phenotypes suggestive of a monogenic aetiology (v1.55 code 26)
- Familial diabetes (v1.13 code 152)
- Insulin resistance (including lipodystrophy) (v1.4 code 174).

Panel Activity

12 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
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
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
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other
Hannah Knight (NIHR BioResource - University of Cambridge)

Group: Other
Workplace: Research lab

80 Entities

76 reviewed, 35 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 80 Entitiess
Green Green List (high evidence)	ABCC8	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Transient Neonatal Diabetes Mellitus, MONDO:0020525 (dominant) Diabetes mellitus, noninsulin-dependent, OMIM:125853 Diabetes mellitus, transient neonatal 2, OMIM:610374 Hyperinsulinemic hypoglycemia, familial, 1, OMIM:256450 Hypoglycemia of infancy, leucine-sensitive, OMIM:240800 Permanent Neonatal Diabetes Mellitus, MONDO:0100164(recessive) Tags
Green Green List (high evidence)	AKT2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Diabetes mellitus, type II, OMIM:125853 Type 2 diabetes mellitus, MONDO:0005148 Tags
Green Green List (high evidence)	APPL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes {Maturity-onset diabetes of the young, type 14}, OMIM:616511 Tags
Green Green List (high evidence)	CEL	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Maturity-onset diabetes of the young, type VIII, OMIM:609812 Diabetes and pancreatic exocrine dysfunction Tags
Green Green List (high evidence)	CISD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Wolfram syndrome 2, OMIM:604928 Tags
Green Green List (high evidence)	DCAF17	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Woodhouse-Sakati syndrome, OMIM:241080 Tags
Green Green List (high evidence)	DNAJC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, OMIM:616192 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, MONDO:0014523 Tags
Green Green List (high evidence)	DYRK1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Abdominal obesity-metabolic syndrome 3, OMIM:615812 Tags
Green Green List (high evidence)	GATA4	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes NEONATAL DIABETES MELLITUS, MONDO:0016391 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, MONDO:0010802 Metabolic syndrome, MONDO:0004955 (coronary artery disease, hypertension, central obesity and diabetes) Tags
Green Green List (high evidence)	GATA6	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OMIM:600001 Metabolic syndrome, MONDO:0004955 (coronary artery disease, hypertension, central obesity and diabetes) Tags
Green Green List (high evidence)	GCK	4 reviews 3 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hyperinsulinemic hypoglycemia, familial, 3, OMIM:602485 Diabetes mellitus, noninsulin-dependent, late onset, OMIM:125853 MODY, type II, OMIM:125851 Diabetes mellitus, permanent neonatal 1, OMIM:606176 Tags
Green Green List (high evidence)	HNF1A	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Diabetes mellitus, insulin-dependent, 20, OMIM:612520 {Diabetes mellitus, noninsulin-dependent, 2}, OMIM:125853 MODY, type III, OMIM:600496 Tags watchlist_moi
Green Green List (high evidence)	HNF1B	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes transient neonatal diabetes mellitus (disease), MONDO:0020525 Type 2 diabetes mellitus, OMIM:125853 maturity-onset diabetes of the young (disease), MONDO:0018911 Tags
Green Green List (high evidence)	HNF4A	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes {Diabetes mellitus, noninsulin-dependent}, OMIM:125853 MODY, type I , OMIM:125850 Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026 Tags
Green Green List (high evidence)	INS	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Maturity-onset diabetes of the young, type 10, OMIM:613370 Diabetes mellitus, permanent neonatal 4, OMIM:618858 Diabetes mellitus, insulin-dependent, 2, OMIM:125852 Hyperproinsulinemia, OMIM:616214 Tags
Green Green List (high evidence)	INSR	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans, OMIM:610549 Hyperinsulinemic hypoglycemia, familial, 5, OMIM:609968 Leprechaunism, OMIM:246200 Rabson-Mendenhall syndrome, OMIM:262190 Tags
Green Green List (high evidence)	KCNJ11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Diabetes mellitus, transient neonatal, 3, OMIM:610582 Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856 Hyperinsulinemic hypoglycemia, familial, 2, OMIM:601820 Maturity-onset diabetes of the young, type 13, OMIM:616329 Tags
Green Green List (high evidence)	LMNA	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Lipodystrophy, familial partial, type 2, OMIM:151660 Severe insulin resistance, partial lipodystrophy and diabetes Tags
Green Green List (high evidence)	MT-TL1	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green NHS GMS Phenotypes maternally-inherited diabetes and deafness, MONDO:0010785 Tags gene-checked
Green Green List (high evidence)	NEUROD1	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Maturity-onset diabetes of the young 6, OMIM:606394 {Type 2 diabetes mellitus, susceptibility to}, OMIM:125853 Tags
Green Green List (high evidence)	PAX6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes diabetes mellitus (disease), MONDO:0005015 Tags
Green Green List (high evidence)	PCBD1	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070 Tags
Green Green List (high evidence)	PDX1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Pancreatic agenesis 1, OMIM:260370 MODY, type IV, OMIM:606392 Tags
Green Green List (high evidence)	PIK3R1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes SHORT syndrome, OMIM:269880 Tags
Green Green List (high evidence)	PLIN1	6 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Lipodystrophy, familial partial, type 4, OMIM:613877 Tags
Green Green List (high evidence)	POLD1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381 Tags
Green Green List (high evidence)	PPARG	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Lipodystrophy, familial partial, type 3, OMIM:604367 Insulin resistance, severe, digenic, OMIM:604367 Obesity, severe, OMIM:601665 {Diabetes, type 2}, OMIM:125853 Tags
Green Green List (high evidence)	PPP1R15B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Microcephaly, short stature, and impaired glucose metabolism 2, OMIM:616817 Tags
Green Green List (high evidence)	RFX6	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitchell-Riley syndrome, OMIM:615710 Tags
Green Green List (high evidence)	SLC29A3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782 Tags
Green Green List (high evidence)	TRMT10A	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Microcephaly, short stature, and impaired glucose metabolism 1, OMIM:616033 Tags
Green Green List (high evidence)	WFS1	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Wolfram-like syndrome, autosomal dominant, OMIM:614296 Wolfram syndrome 1, OMIM:222300 {Diabetes mellitus, noninsulin-dependent, association with}, OMIM:125853 Tags
Green Green List (high evidence)	ZBTB20	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes diabetes mellitus (disease), MONDO:0005015 Tags
Green Green List (high evidence)	ZFP57	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes transient neonatal diabetes mellitus (disease), MONDO:0020525 Diabetes mellitus, transient neonatal, 1, OMIM:601410 Tags
Green Green List (high evidence)	ZMPSTE24	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mandibuloacral dysplasia with type B lipodystrophy, OMIM:608612 Tags
Amber Amber List (moderate evidence)	DUT	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Bone marrow failure and diabetes mellitus syndrome, OMIM:620044 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	SMPD4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, OMIM:618622 type 1 diabetes mellitus, MONDO:0005147 Tags Q1_24_promote_green
Red Red List (low evidence)	AGPS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Lipodystrophy, congenital generalized, type 1, 608594 Tags
Red Red List (low evidence)	CAV1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Lipodystrophy, congenital generalized, type 3, 612526 Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome Tags
Red Red List (low evidence)	CIDEC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Lipodystrophy, familial partial, type 5 Tags
No list No list	AGPAT2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Phenotypes Lipodystrophy, congenital generalized, type 1, 608594 lipodystrophy Tags curated_removed
No list No list	ALMS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Phenotypes Alstrom syndrome Tags curated_removed
No list No list	BLK	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Phenotypes Maturity-onset diabetes of the young, type 11, 613375 Maturity Onset Diabetes of the Young Tags curated_removed
No list No list	BLM	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Phenotypes Bloom syndrome Tags curated_removed
No list No list	BSCL2	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Phenotypes Lipodystrophy, congenital generalized, type 2, OMIM:269700 Tags curated_removed
No list No list	CAVIN1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Phenotypes Lipodystrophy, congenital generalized, type 4, 613327 Tags curated_removed
No list No list	DMXL2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Phenotypes ORPHA90636 OMIM:612186 Sensorineural Hearing Loss Tags curated_removed
No list No list	EIF2AK3	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Phenotypes Wolcott-Rallison syndrome Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus Tags curated_removed
No list No list	ENPP1	3 reviews 2 red	Unknown	Sources Expert Review Removed Phenotypes Ossification of posterior longitudinal ligament of spine, 602475{Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853{Obesity, susceptibility to}, 601665Arterial calcification, generalized, of infancy, 1, 208000Hypophos Tags curated_removed
No list No list	FGFR3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Phenotypes Hypochondroplasia, 146000 Crouzon syndrome with acanthosis nigricans, 612247 Tags curated_removed
No list No list	FOXC2	1 review 1 red	Unknown	Sources Expert Review Removed Phenotypes Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 Lymphedema-distichiasis syndrome, 153400 Tags curated_removed
No list No list	FOXP3	3 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Removed Phenotypes {Diabetes mellitus, type I, susceptibility to}, 222100 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 IPEX syndrome Tags curated_removed
No list No list	GLIS3	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Phenotypes Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism Neonatal Diabetes mellitus with congenital hypothyroidism Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 -3 Tags curated_removed
No list No list	HAMP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Phenotypes Hemochromatosis, type 2B 613313 Tags curated_removed
No list No list	HFE	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Phenotypes {Alzheimer disease, susceptibility to}, 104300 Hemochromatosis, 235200 {Microvascular complications of diabetes 7}, 612635 {Porphyria variegata, susceptibility to}, 176200 {Porphyria cutanea tarda, susceptibility to}, 176100 Tags curated_removed
No list No list	HFE2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Phenotypes Hemochromatosis, type 2A, 602390 Tags curated_removed new-gene-name
No list No list	IER3IP1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Phenotypes Microcephaly, epilepsy, and diabetes syndrome, 614231 Microcephaly, epilepsy, and diabetes syndrome Microcephaly, epilepsy and diabetes syndrome Tags curated_removed
No list No list	IL2RA	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Tags curated_removed
No list No list	17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss ISCA-37432-Loss Region	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Phenotypes 614527 utero-vaginal atresia RCAD syndrome Schizophrenia Chromosome 17q12 deletion syndrome delayed development, intellectual disability global developmental delay Autism Spectrum Disorder Renal cysts and diabetes syndrome Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females Tags curated_removed
No list No list	KLF11	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Phenotypes Maturity-onset diabetes of the young, type VII, 610508 Maturity Onset Diabetes of the Young Tags curated_removed
No list No list	LIPC	3 reviews 2 red	Unknown	Sources Expert Review Removed Phenotypes Hepatic lipase deficiency, 614025 [High density lipoprotein cholesterol level QTL 12], 612797 {Diabetes mellitus, noninsulin-dependent}, 125853 Tags curated_removed
No list No list	LRBA	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Phenotypes Immunodeficiency, common variable, 8, with autoimmunity Tags curated_removed
No list No list	MNX1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Tags curated_removed
No list No list	NEUROG3	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Phenotypes Permanent neonatal diabetes and enteric anendocrinosis Tags curated_removed
No list No list	NKX2-2	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Tags curated_removed
No list No list	NSMCE2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Phenotypes Dwarfism with extreme insulin resistance and acanthosis nigricans Tags curated_removed
No list No list	PAX4	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Phenotypes Maturity-onset diabetes of the young, type IX, 612225 Diabetes mellitus, type 2, 125853 Diabetes mellitus, ketosis-prone, 612227 Maturity Onset Diabetes of the Young Tags curated_removed
No list No list	PCNT	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Phenotypes Microcephalic osteodysplastic primordial dwarfism, type II Tags curated_removed
No list No list	PCYT1A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy Tags curated_removed
No list No list	POC1A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis Tags curated_removed
No list No list	PPP1R3A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Phenotypes Insulin resistance, severe, digenic Tags curated_removed
No list No list	PSMB8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Phenotypes Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040 Tags curated_removed
No list No list	PTF1A	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Phenotypes Permanent neonatal diabetes mellitus (PNDM) Permanent neonatal diabetes with cerebellar agenesis Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069 Tags curated_removed
No list No list	SLC19A2	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Phenotypes Thiamine-responsive megaloblastic anemia syndrome MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS ROGERS SYNDROME Tags curated_removed
No list No list	SLC2A2	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Phenotypes {Diabetes mellitus, noninsulin-dependent} Fanconi-Bickel syndrome Fanconi-Bickel syndrome, 227810 Tags curated_removed
No list No list	SLC40A1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Phenotypes Hemochromatosis, type 4 606069 Tags curated_removed
No list No list	STAT1	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Tags curated_removed
No list No list	STAT3	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Phenotypes Neonatal diabetes and additional multi-organ autoimmunity Tags curated_removed
No list No list	TFR2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Phenotypes Hemochromatosis, type 3 604250 Tags curated_removed
No list No list	WRN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Phenotypes Werner syndrome Tags curated_removed

Major version comments

2019-07-31 13:16 Ivone Leong (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.7) was signed off under NHS Genomic Medicine Service governance on (31/07/2019). The panel was promoted to the next major version (2.0) as a result of this.

2019-01-30 10:46 Ivone Leong (Genomics England Curator) promoted panel to 1.0
Ready to be promoted to version 1

Monogenic diabetes (Version 2.57)

12 reviewers

80 Entities

76 reviewed, 35 green

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