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Monogenic Diabetes v0.134 NEUROG3 Zornitza Stark Marked gene: NEUROG3 as ready
Monogenic Diabetes v0.134 NEUROG3 Zornitza Stark Gene: neurog3 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.134 NEUROG3 Zornitza Stark Phenotypes for gene: NEUROG3 were changed from to congenital malabsorptive diarrhea 4 MONDO:0012479
Monogenic Diabetes v0.133 INS Zornitza Stark Marked gene: INS as ready
Monogenic Diabetes v0.133 INS Zornitza Stark Gene: ins has been classified as Green List (High Evidence).
Monogenic Diabetes v0.133 INS Zornitza Stark Phenotypes for gene: INS were changed from Diabetes mellitus, insulin-dependent, 2, 125852; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; Diabetes mellitus, type 1, 125852; Maturity-onset diabetes of the young, type 10, 613370; Transient Neonatal Diabetes, Dominant/Recessive; Diabetes mellitus, permanent neonatal, 606176; Hyperproinsulinemia, familial, with or without diabetes; Maturity Onset Diabetes of the Young (Dominant); MODY10; Maturity Onset Diabetes of the Young; Permanent Neonatal diabetes mellitus to diabetes mellitus, permanent neonatal 4 MONDO:0030089; maturity-onset diabetes of the young type 10 MONDO:0013240
Monogenic Diabetes v0.132 INS Zornitza Stark Publications for gene: INS were set to
Monogenic Diabetes v0.131 INSR Zornitza Stark Marked gene: INSR as ready
Monogenic Diabetes v0.131 INSR Zornitza Stark Gene: insr has been classified as Green List (High Evidence).
Monogenic Diabetes v0.131 INSR Zornitza Stark Phenotypes for gene: INSR were changed from Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Hyperinsulinemic hypoglycemia, familial, 5, 609968; Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans; Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities; DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS; Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans; Leprechaunism, 246200; OMIM 610549; Diabetes mellitus, insulin-resistant, with acanthosis nigricans; Rabson-Mendenhall syndrome, 262190 to insulin-resistance syndrome type A MONDO:0012520; Rabson-Mendenhall syndrome MONDO:0009874; Donohue syndrome MONDO:0009517
Monogenic Diabetes v0.130 INSR Zornitza Stark Publications for gene: INSR were set to 8288049
Monogenic Diabetes v0.129 GATA6 Zornitza Stark Marked gene: GATA6 as ready
Monogenic Diabetes v0.129 GATA6 Zornitza Stark Gene: gata6 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.129 GATA6 Zornitza Stark Phenotypes for gene: GATA6 were changed from Pancreatic agenesis and congenital heart defects; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes); PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS to pancreatic hypoplasia-diabetes-congenital heart disease syndrome MONDO:0010802
Monogenic Diabetes v0.128 EIF2AK3 Zornitza Stark Marked gene: EIF2AK3 as ready
Monogenic Diabetes v0.128 EIF2AK3 Zornitza Stark Gene: eif2ak3 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.128 EIF2AK3 Zornitza Stark Phenotypes for gene: EIF2AK3 were changed from Wolcott-Rallison syndrome; Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus to Wolcott-Rallison syndrome MONDO:0009192; neonatal diabetes mellitus MONDO:0016391
Monogenic Diabetes v0.127 EIF2AK3 Zornitza Stark Publications for gene: EIF2AK3 were set to 19837917
Monogenic Diabetes v0.126 GATA4 Zornitza Stark Marked gene: GATA4 as ready
Monogenic Diabetes v0.126 GATA4 Zornitza Stark Gene: gata4 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.126 GATA4 Zornitza Stark Phenotypes for gene: GATA4 were changed from to neonatal diabetes mellitus MONDO:0016391
Monogenic Diabetes v0.125 GATA4 Zornitza Stark reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: neonatal diabetes mellitus MONDO:0016391; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.125 GATA4 Hali Van Niel reviewed gene: GATA4: Rating: AMBER; Mode of pathogenicity: None; Publications: 24696446, 20854389; Phenotypes: neonatal diabetes mellitus MONDO:0016391; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.125 GATA6 Hali Van Niel reviewed gene: GATA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20581743, 22962692, 32524025, 28049534; Phenotypes: pancreatic hypoplasia-diabetes-congenital heart disease syndrome MONDO:0010802; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.125 INSR Hali Van Niel reviewed gene: INSR: Rating: GREEN; Mode of pathogenicity: None; Publications: 34965699, 8288049, 28765322; Phenotypes: insulin-resistance syndrome type A MONDO:0012520, Rabson-Mendenhall syndrome MONDO:0009874, Donohue syndrome MONDO:0009517; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Monogenic Diabetes v0.125 INS Hali Van Niel reviewed gene: INS: Rating: GREEN; Mode of pathogenicity: None; Publications: 17855560, 18451997, 18162506, 18192540, 32034745, 30182532; Phenotypes: diabetes mellitus, permanent neonatal 4 MONDO:0030089, maturity-onset diabetes of the young type 10 MONDO:0013240; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Monogenic Diabetes v0.125 INSR Hali Van Niel Deleted their review
Monogenic Diabetes v0.125 INSR Hali Van Niel Deleted their comment
Monogenic Diabetes v0.125 INSR Hali Van Niel reviewed gene: INSR: Rating: GREEN; Mode of pathogenicity: None; Publications: 17855560, 18451997, 18162506, 18192540, 32034745, 30182532; Phenotypes: diabetes mellitus, permanent neonatal 4 MONDO:0030089, maturity-onset diabetes of the young type 10 MONDO:0013240; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Monogenic Diabetes v0.125 NEUROG3 Hali Van Niel reviewed gene: NEUROG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32574610; Phenotypes: congenital malabsorptive diarrhea 4 MONDO:0012479; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.125 EIF2S3 Hali Van Niel reviewed gene: EIF2S3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28055140, 9781023, 32799315, 35765291; Phenotypes: MEHMO syndrome MONDO:0010258; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Monogenic Diabetes v0.125 EIF2AK3 Hali Van Niel reviewed gene: EIF2AK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20202148, 11997520, 16813601, 10932183, 37873802, 36106422; Phenotypes: Wolcott-Rallison syndrome MONDO:0009192, neonatal diabetes mellitus MONDO:0016391; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.125 WFS1 Hali Van Niel reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7490992, 33693650, 34792487; Phenotypes: Wolfram syndrome 1 MONDO:0009101, type 1 diabetes mellitus MONDO:0005147; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.125 PPP1R15B Hali Van Niel edited their review of gene: PPP1R15B: Changed rating: AMBER
Monogenic Diabetes v0.125 IL2RA Hali Van Niel reviewed gene: IL2RA: Rating: AMBER; Mode of pathogenicity: None; Publications: 15776395, 17196245; Phenotypes: immunodeficiency due to CD25 deficiency MONDO:0011664, neonatal diabetes mellitus MONDO:0016391; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.125 LMNA Hali Van Niel reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 15028826, 10587585, 17250669, 37843397; Phenotypes: familial partial lipodystrophy, Dunnigan type MONDO:0007906, type 2 diabetes mellitus MONDO:0005148; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.125 LRBA Hali Van Niel changed review comment from: Established gene disease association with Immunodeficiency, common variable, 8, with autoimmunity, feature may present with type 1 diabetes, possibly neonatal

25468195: 1 patient T1DM
26768763: 5 patients with T1DM
27057999: 1 patient T1DM at 20months
26745254: 2 patients with T1DM, 1 at 2 years, one at infancy
25479458: 1 patient T1DM at 6 years
28473463: 8 patients with T1DM, three of which diagnosed <6months (neonatal diabetes)
26206937: 2 patient T1Dm, 2 years and 18months; to: Established gene disease association with Immunodeficiency, common variable, 8, with autoimmunity, feature may present with type 1 diabetes, possibly neonatal

25468195: 1 patient T1DM
26768763: 5 patients with T1DM
27057999: 1 patient T1DM at 20months
26745254: 2 patients with T1DM, 1 at 2 years, one at infancy
25479458: 1 patient T1DM at 6 years
28473463: 8 patients with T1DM, three of which diagnosed <6months (neonatal diabetes)
26206937: 2 patient T1Dm, 2 years and 18months
all with AR null LRBA variants
Monogenic Diabetes v0.125 LRBA Hali Van Niel reviewed gene: LRBA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25468195, 26768763, 27057999, 26745254, 25479458, 28473463, 26206937; Phenotypes: type 1 diabetes mellitus MONDO:0005147, neonatal diabetes mellitus MONDO:0016391, combined immunodeficiency due to LRBA deficiency MONDO:0013863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.125 ZBTB20 Zornitza Stark Marked gene: ZBTB20 as ready
Monogenic Diabetes v0.125 ZBTB20 Zornitza Stark Gene: zbtb20 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.125 ZBTB20 Zornitza Stark Phenotypes for gene: ZBTB20 were changed from Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications); Primrose syndrome, 259050 to Primrose syndrome MONDO:0009798; Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications); Primrose syndrome, 259050
Monogenic Diabetes v0.124 ZBTB20 Zornitza Stark Publications for gene: ZBTB20 were set to 20644156; 25017102
Monogenic Diabetes v0.123 PIK3R1 Zornitza Stark Marked gene: PIK3R1 as ready
Monogenic Diabetes v0.123 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.123 PIK3R1 Zornitza Stark Phenotypes for gene: PIK3R1 were changed from Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880; SHORT syndrome to SHORT syndrome MONDO:0010026; Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, MIM#269880
Monogenic Diabetes v0.122 PIK3R1 Zornitza Stark Publications for gene: PIK3R1 were set to 23810378
Monogenic Diabetes v0.121 PIK3R1 Hali Van Niel reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32879144, 32602265, 3651536, 34249805, 32439336; Phenotypes: SHORT syndrome MONDO:0010026; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.121 ZBTB20 Hali Van Niel reviewed gene: ZBTB20: Rating: GREEN; Mode of pathogenicity: None; Publications: 27061120, 25017102, 29737001, 38087819, 32473227, 30637921, 32266967; Phenotypes: Primrose syndrome MONDO:0009798; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.121 ZMPSTE24 Hali Van Niel reviewed gene: ZMPSTE24: Rating: GREEN; Mode of pathogenicity: None; Publications: 20814950, 18435794, 36927562, 31856865; Phenotypes: Mandibuloacral dysplasia with type B lipodystrophy, MONDO:0012074; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.121 AGPS Hali Van Niel reviewed gene: AGPS: Rating: RED; Mode of pathogenicity: None; Publications: 9553082, 21990100, 35070570; Phenotypes: rhizomelic chondrodysplasia punctata type 3 MONDO:0010823; Mode of inheritance: Unknown
Monogenic Diabetes v0.121 LIPC Zornitza Stark Marked gene: LIPC as ready
Monogenic Diabetes v0.121 LIPC Zornitza Stark Gene: lipc has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.121 LIPC Zornitza Stark Phenotypes for gene: LIPC were changed from {Diabetes mellitus, noninsulin-dependent}, 125853; [High density lipoprotein cholesterol level QTL 12], 612797; Hepatic lipase deficiency, 614025 to {Diabetes mellitus, noninsulin-dependent}, MIM#125853
Monogenic Diabetes v0.120 LIPC Zornitza Stark Publications for gene: LIPC were set to
Monogenic Diabetes v0.119 COQ2 Zornitza Stark Marked gene: COQ2 as ready
Monogenic Diabetes v0.119 COQ2 Zornitza Stark Gene: coq2 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.119 COQ2 Zornitza Stark Phenotypes for gene: COQ2 were changed from neonatal hyperglycaemia, Primary Coenzyme Q10 Deficiency to coenzyme Q10 deficiency, primary, 1 MONDO:0011829
Monogenic Diabetes v0.118 COQ2 Zornitza Stark Publications for gene: COQ2 were set to
Monogenic Diabetes v0.117 COQ2 Zornitza Stark Classified gene: COQ2 as Green List (high evidence)
Monogenic Diabetes v0.117 COQ2 Zornitza Stark Gene: coq2 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.116 CIDEC Zornitza Stark Marked gene: CIDEC as ready
Monogenic Diabetes v0.116 CIDEC Zornitza Stark Gene: cidec has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.116 CIDEC Zornitza Stark Phenotypes for gene: CIDEC were changed from Lipodystrophy, familial partial, type 5 to CIDEC-related familial partial lipodystrophy MONDO:0014098
Monogenic Diabetes v0.115 CAV1 Zornitza Stark Marked gene: CAV1 as ready
Monogenic Diabetes v0.115 CAV1 Zornitza Stark Gene: cav1 has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.115 CAV1 Zornitza Stark Mode of inheritance for gene: CAV1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Monogenic Diabetes v0.114 CAV1 Zornitza Stark changed review comment from: Single family reported.; to: Single family reported in 2008.
Monogenic Diabetes v0.114 CAV1 Zornitza Stark reviewed gene: CAV1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Monogenic Diabetes v0.114 ZFP57 Zornitza Stark Marked gene: ZFP57 as ready
Monogenic Diabetes v0.114 ZFP57 Zornitza Stark Gene: zfp57 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.114 ZFP57 Zornitza Stark Phenotypes for gene: ZFP57 were changed from Diabetes mellitus, transient neonatal, 1, 601410; Transient Neonatal Diabetes; Transient Neonatal Diabetes, Recessive to Diabetes mellitus, transient neonatal, 1, MIM#601410
Monogenic Diabetes v0.113 ZFP57 Zornitza Stark Publications for gene: ZFP57 were set to
Monogenic Diabetes v0.112 PTF1A Zornitza Stark Marked gene: PTF1A as ready
Monogenic Diabetes v0.112 PTF1A Zornitza Stark Gene: ptf1a has been classified as Green List (High Evidence).
Monogenic Diabetes v0.112 PTF1A Zornitza Stark Phenotypes for gene: PTF1A were changed from Permanent neonatal diabetes mellitus (PNDM); Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069 to Diabetes mellitus, permanent neonatal, with cerebellar agenesis, MIM#609069
Monogenic Diabetes v0.111 PTF1A Zornitza Stark Publications for gene: PTF1A were set to
Monogenic Diabetes v0.110 PDX1 Zornitza Stark Marked gene: PDX1 as ready
Monogenic Diabetes v0.110 PDX1 Zornitza Stark Gene: pdx1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.110 PDX1 Zornitza Stark Phenotypes for gene: PDX1 were changed from Permanent neonatal diabetes; Maturity-Onset Diabetes Of The Young; Maturity-onset diabetes of the young (MODY); MODY type IV; Recessive neonatal diabetes, pancreatic agenesis and dominant MODY, 606392; MODY4; Pancreatic agenesis 1; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4 to maturity-onset diabetes of the young type 4 MONDO:0011667
Monogenic Diabetes v0.109 PDX1 Zornitza Stark Publications for gene: PDX1 were set to
Monogenic Diabetes v0.108 NEUROD1 Zornitza Stark Marked gene: NEUROD1 as ready
Monogenic Diabetes v0.108 NEUROD1 Zornitza Stark Gene: neurod1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.108 NEUROD1 Zornitza Stark Phenotypes for gene: NEUROD1 were changed from MODY6; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity Onset Diabetes of the Young; Maturity-onset diabetes of the young 6, 606394; Permanent neonatal diabetes and cerebellar agenesis to maturity-onset diabetes of the young type 6 MONDO:0011668
Monogenic Diabetes v0.107 NEUROD1 Hali Van Niel reviewed gene: NEUROD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22784109, 29521454, 10545951, 11575290; Phenotypes: maturity-onset diabetes of the young type 6 MONDO:0011668; Mode of inheritance: Unknown
Monogenic Diabetes v0.107 PDX1 Hali Van Niel reviewed gene: PDX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9326926, 10545531, 10720084, 12970316, 20009086, 19496967; Phenotypes: maturity-onset diabetes of the young type 4 MONDO:0011667; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.107 PTF1A Hali Van Niel edited their review of gene: PTF1A: Changed publications: 24212882, 21749365, 10507728, 15543146, 19650412, 37854477
Monogenic Diabetes v0.107 PTF1A Hali Van Niel edited their review of gene: PTF1A: Changed rating: GREEN
Monogenic Diabetes v0.107 PTF1A Hali Van Niel reviewed gene: PTF1A: Rating: ; Mode of pathogenicity: None; Publications: 24212882, 21749365, 10507728, 15543146, 19650412; Phenotypes: permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome MONDO:0012192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.107 ZFP57 Hali Van Niel reviewed gene: ZFP57: Rating: GREEN; Mode of pathogenicity: None; Publications: 18622393, 27075368, 23150280, 30315371, 35218690, 28334746; Phenotypes: transient neonatal diabetes mellitus MONDO:0020525; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Monogenic Diabetes v0.107 CAV1 Hali Van Niel reviewed gene: CAV1: Rating: AMBER; Mode of pathogenicity: None; Publications: 18211975; Phenotypes: diabetes mellitus MONDO:0005015, congenital generalized lipodystrophy type 1 MONDO:0012071; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Monogenic Diabetes v0.107 CIDEC Hali Van Niel reviewed gene: CIDEC: Rating: RED; Mode of pathogenicity: None; Publications: 20049731; Phenotypes: CIDEC-related familial partial lipodystrophy MONDO:0014098; Mode of inheritance: Unknown
Monogenic Diabetes v0.107 COQ2 Hali Van Niel reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16400613, 30337132, 26296322; Phenotypes: neonatal diabetes mellitus MONDO:0016391, coenzyme Q10 deficiency, primary, 1 MONDO:0011829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.107 LIPC Hali Van Niel edited their review of gene: LIPC: Changed publications: 1671786, 12777476, 1883393, 22798447, 15126514, 18364377, 32617858
Monogenic Diabetes v0.107 LIPC Hali Van Niel reviewed gene: LIPC: Rating: RED; Mode of pathogenicity: None; Publications: 1671786, 12777476, 1883393, 22798447; Phenotypes: diabetes mellitus MONDO:0005015; Mode of inheritance: Unknown
Monogenic Diabetes v0.107 SLC2A2 Zornitza Stark Marked gene: SLC2A2 as ready
Monogenic Diabetes v0.107 SLC2A2 Zornitza Stark Gene: slc2a2 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.107 SLC2A2 Zornitza Stark Phenotypes for gene: SLC2A2 were changed from {Diabetes mellitus, noninsulin-dependent}; Fanconi-Bickel syndrome to Fanconi-Bickel syndrome, MIM# 227810
Monogenic Diabetes v0.106 AGPAT2 Zornitza Stark Marked gene: AGPAT2 as ready
Monogenic Diabetes v0.106 AGPAT2 Zornitza Stark Gene: agpat2 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.106 AGPAT2 Zornitza Stark Phenotypes for gene: AGPAT2 were changed from neonatal diabetes mellitus to congenital generalized lipodystrophy type 1 MONDO:0012071
Monogenic Diabetes v0.105 AGPAT2 Zornitza Stark Publications for gene: AGPAT2 were set to PubMed PMID: 11967537, PubMed PMID: 12765973.
Monogenic Diabetes v0.104 SLC40A1 Zornitza Stark Marked gene: SLC40A1 as ready
Monogenic Diabetes v0.104 SLC40A1 Zornitza Stark Gene: slc40a1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.104 SLC40A1 Zornitza Stark Phenotypes for gene: SLC40A1 were changed from Hemochromatosis, type 4 606069 to Hemochromatosis, type 4, MIM# 606069
Monogenic Diabetes v0.103 SLC40A1 Zornitza Stark Publications for gene: SLC40A1 were set to
Monogenic Diabetes v0.102 SLC40A1 Zornitza Stark Mode of pathogenicity for gene: SLC40A1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic Diabetes v0.101 SLC29A3 Zornitza Stark Marked gene: SLC29A3 as ready
Monogenic Diabetes v0.101 SLC29A3 Zornitza Stark Gene: slc29a3 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.101 SLC29A3 Zornitza Stark Phenotypes for gene: SLC29A3 were changed from Histiocytosis-lymphadenopathy plus syndrome,602782; Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome; H syndrome (hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycaemia) and PHID syndrome (pigmented hypertrichosis with insulin dependent diabetes) to Histiocytosis-lymphadenopathy plus syndrome, MIM#602782
Monogenic Diabetes v0.100 SLC29A3 Zornitza Stark Publications for gene: SLC29A3 were set to 19336477
Monogenic Diabetes v0.99 SLC19A2 Zornitza Stark Marked gene: SLC19A2 as ready
Monogenic Diabetes v0.99 SLC19A2 Zornitza Stark Gene: slc19a2 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.99 SLC19A2 Zornitza Stark Phenotypes for gene: SLC19A2 were changed from Thiamine-responsive megaloblastic anemia syndrome; MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS ROGERS SYNDROME to thiamine-responsive megaloblastic anemia syndrome MONDO:0009575
Monogenic Diabetes v0.98 SLC19A2 Zornitza Stark Publications for gene: SLC19A2 were set to 26549656; 26839896
Monogenic Diabetes v0.97 BSCL2 Zornitza Stark Marked gene: BSCL2 as ready
Monogenic Diabetes v0.97 BSCL2 Zornitza Stark Gene: bscl2 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.97 BSCL2 Zornitza Stark Phenotypes for gene: BSCL2 were changed from Berardinelli-Seip congenital lipodystrophy to congenital generalized lipodystrophy type 2 MONDO:0010020; diabetes mellitus MONDO:0005015
Monogenic Diabetes v0.96 BSCL2 Zornitza Stark Publications for gene: BSCL2 were set to 11479539
Monogenic Diabetes v0.95 PPP1R15B Zornitza Stark Marked gene: PPP1R15B as ready
Monogenic Diabetes v0.95 PPP1R15B Zornitza Stark Gene: ppp1r15b has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.95 PPP1R15B Zornitza Stark Classified gene: PPP1R15B as Amber List (moderate evidence)
Monogenic Diabetes v0.95 PPP1R15B Zornitza Stark Gene: ppp1r15b has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.94 PPP1R15B Zornitza Stark Publications for gene: PPP1R15B were set to
Monogenic Diabetes v0.93 PAX6 Zornitza Stark Marked gene: PAX6 as ready
Monogenic Diabetes v0.93 PAX6 Zornitza Stark Gene: pax6 has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.93 PAX6 Zornitza Stark Phenotypes for gene: PAX6 were changed from Aniridia 106210; diabetes to Monogenic diabetes, MONDO:0015967, PAX6-related
Monogenic Diabetes v0.92 PAX6 Zornitza Stark Publications for gene: PAX6 were set to
Monogenic Diabetes v0.91 PAX6 Zornitza Stark Classified gene: PAX6 as Red List (low evidence)
Monogenic Diabetes v0.91 PAX6 Zornitza Stark Gene: pax6 has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.90 PAX6 Zornitza Stark reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: None; Publications: 36202929; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.90 HNF4A Zornitza Stark Marked gene: HNF4A as ready
Monogenic Diabetes v0.90 HNF4A Zornitza Stark Gene: hnf4a has been classified as Green List (High Evidence).
Monogenic Diabetes v0.90 HNF4A Zornitza Stark Phenotypes for gene: HNF4A were changed from Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026; Maturity-Onset Diabetes Of The Young, Type 1; MODY1, 125850; {Diabetes mellitus, noninsulin-dependent}, 125853 to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026; Maturity-Onset Diabetes Of The Young, Type 1; MODY1, 125850; {Diabetes mellitus, noninsulin-dependent}, 125853
Monogenic Diabetes v0.89 HNF4A Zornitza Stark Publications for gene: HNF4A were set to 28242437
Monogenic Diabetes v0.88 ALMS1 Zornitza Stark Marked gene: ALMS1 as ready
Monogenic Diabetes v0.88 ALMS1 Zornitza Stark Gene: alms1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.88 ALMS1 Zornitza Stark Phenotypes for gene: ALMS1 were changed from Alstrom syndrome to Alstrom syndrome MONDO:0008763
Monogenic Diabetes v0.87 ALMS1 Zornitza Stark Publications for gene: ALMS1 were set to
Monogenic Diabetes v0.86 CISD2 Zornitza Stark Marked gene: CISD2 as ready
Monogenic Diabetes v0.86 CISD2 Zornitza Stark Gene: cisd2 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.86 CISD2 Zornitza Stark Phenotypes for gene: CISD2 were changed from Wolfram syndrome 2604928 to Wolfram syndrome, MIM#2604928
Monogenic Diabetes v0.85 CISD2 Zornitza Stark Publications for gene: CISD2 were set to 25056293; 17846994
Monogenic Diabetes v0.84 DMXL2 Zornitza Stark Marked gene: DMXL2 as ready
Monogenic Diabetes v0.84 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.84 DMXL2 Zornitza Stark Phenotypes for gene: DMXL2 were changed from Sensorineural Hearing Loss; OMIM:612186; ORPHA90636 to Polyendocrine-polyneuropathy syndrome , MIM# 616113
Monogenic Diabetes v0.83 DMXL2 Zornitza Stark Publications for gene: DMXL2 were set to 22875945; 27657680; 25248098
Monogenic Diabetes v0.82 DMXL2 Zornitza Stark Classified gene: DMXL2 as Red List (low evidence)
Monogenic Diabetes v0.82 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.81 STAT3 Zornitza Stark Marked gene: STAT3 as ready
Monogenic Diabetes v0.81 STAT3 Zornitza Stark Gene: stat3 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.81 STAT3 Zornitza Stark Phenotypes for gene: STAT3 were changed from to STAT3-related early-onset multisystem autoimmune disease MONDO:0014414
Monogenic Diabetes v0.80 STAT3 Zornitza Stark Publications for gene: STAT3 were set to 25038750; 27167055
Monogenic Diabetes v0.79 STAT1 Zornitza Stark Marked gene: STAT1 as ready
Monogenic Diabetes v0.79 STAT1 Zornitza Stark Gene: stat1 has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.79 STAT1 Zornitza Stark Phenotypes for gene: STAT1 were changed from to autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0013599
Monogenic Diabetes v0.78 STAT1 Zornitza Stark Publications for gene: STAT1 were set to 23534974
Monogenic Diabetes v0.77 STAT1 Zornitza Stark Classified gene: STAT1 as Amber List (moderate evidence)
Monogenic Diabetes v0.77 STAT1 Zornitza Stark Gene: stat1 has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.76 TRMT10A Zornitza Stark Marked gene: TRMT10A as ready
Monogenic Diabetes v0.76 TRMT10A Zornitza Stark Gene: trmt10a has been classified as Green List (High Evidence).
Monogenic Diabetes v0.76 TRMT10A Zornitza Stark Phenotypes for gene: TRMT10A were changed from Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability; failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability; Microcephaly, short stature, and impaired glucose metabolism 1, 616033 to Microcephaly, short stature, and impaired glucose metabolism 1, 616033
Monogenic Diabetes v0.75 TRMT10A Zornitza Stark Publications for gene: TRMT10A were set to 26297882; 24204302
Monogenic Diabetes v0.74 TRMT10A Hali Van Niel reviewed gene: TRMT10A: Rating: GREEN; Mode of pathogenicity: None; Publications: 34541035, 24204302, 25053765, 26297882, 35137278; Phenotypes: microcephaly, short stature, and impaired glucose metabolism 1 MONDO:0000208; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.74 STAT1 Hali Van Niel Deleted their comment
Monogenic Diabetes v0.74 STAT1 Hali Van Niel edited their review of gene: STAT1: Added comment: STAT1 associated with 3 types of immonodeficiencies
Immonodeficiency 31A (AD, LoF), Immonodeficiency 31B (AR, LoF) and
Immonodeficiency 31C (autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome), AD, GoF variants in STAT1

23534974: 5 patients w GOF mutation in STAT1, 3 developed type 1 diabetes mellitus
33027576: 1 patient with type 1 diabetes

Well established gene disease association, type 1 diabetes mellitus may present with disease; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic Diabetes v0.74 STAT1 Hali Van Niel reviewed gene: STAT1: Rating: AMBER; Mode of pathogenicity: Other; Publications: 23534974, 33027576; Phenotypes: autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0013599; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.74 STAT1 Hali Van Niel Deleted their review
Monogenic Diabetes v0.74 STAT1 Hali Van Niel reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 23534974, 33027576; Phenotypes: autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0013599; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.74 STAT3 Hali Van Niel reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25038750, 25359994, 38020118, 30825606; Phenotypes: STAT3-related early-onset multisystem autoimmune disease MONDO:0014414; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.74 DMXL2 Hali Van Niel reviewed gene: DMXL2: Rating: RED; Mode of pathogenicity: None; Publications: 30237576, 31688942, 27657680, 25248098; Phenotypes: ; Mode of inheritance: Unknown
Monogenic Diabetes v0.74 POLD1 Zornitza Stark Marked gene: POLD1 as ready
Monogenic Diabetes v0.74 POLD1 Zornitza Stark Gene: pold1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.74 POLD1 Zornitza Stark Phenotypes for gene: POLD1 were changed from Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381; multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males to mandibular hypoplasia-deafness-progeroid syndrome MONDO:0014157
Monogenic Diabetes v0.73 POLD1 Zornitza Stark Publications for gene: POLD1 were set to 23770608
Monogenic Diabetes v0.72 DCAF17 Zornitza Stark Marked gene: DCAF17 as ready
Monogenic Diabetes v0.72 DCAF17 Zornitza Stark Gene: dcaf17 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.72 DCAF17 Zornitza Stark Phenotypes for gene: DCAF17 were changed from Woodhouse-Sakati syndrome (hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness); Woodhouse-Sakati syndrome, 241080 to Woodhouse-Sakati syndrome MONDO:0009419
Monogenic Diabetes v0.71 DCAF17 Zornitza Stark Publications for gene: DCAF17 were set to 24464444; 19026396; 20507343
Monogenic Diabetes v0.70 DNAJC3 Zornitza Stark Marked gene: DNAJC3 as ready
Monogenic Diabetes v0.70 DNAJC3 Zornitza Stark Gene: dnajc3 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.70 DNAJC3 Zornitza Stark Phenotypes for gene: DNAJC3 were changed from Autosomal recessive juvenile-onset diabetes with central and peripheral neurodegeneration; ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192 to juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome MONDO:0014523
Monogenic Diabetes v0.69 DNAJC3 Zornitza Stark Publications for gene: DNAJC3 were set to
Monogenic Diabetes v0.68 FOXP3 Zornitza Stark Marked gene: FOXP3 as ready
Monogenic Diabetes v0.68 FOXP3 Zornitza Stark Gene: foxp3 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.68 FOXP3 Zornitza Stark Phenotypes for gene: FOXP3 were changed from to immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome MONDO:0010580
Monogenic Diabetes v0.67 FOXP3 Zornitza Stark Publications for gene: FOXP3 were set to
Monogenic Diabetes v0.66 GLIS3 Zornitza Stark Marked gene: GLIS3 as ready
Monogenic Diabetes v0.66 GLIS3 Zornitza Stark Gene: glis3 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.66 GLIS3 Zornitza Stark Phenotypes for gene: GLIS3 were changed from Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism; Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 -3 to neonatal diabetes mellitus with congenital hypothyroidism MONDO:0012436
Monogenic Diabetes v0.65 GLIS3 Zornitza Stark Publications for gene: GLIS3 were set to
Monogenic Diabetes v0.64 HFE Zornitza Stark Marked gene: HFE as ready
Monogenic Diabetes v0.64 HFE Zornitza Stark Gene: hfe has been classified as Green List (High Evidence).
Monogenic Diabetes v0.64 HFE Zornitza Stark Phenotypes for gene: HFE were changed from {Porphyria variegata, susceptibility to}, 176200; Hemochromatosis, 235200; {Microvascular complications of diabetes 7}, 612635; {Porphyria cutanea tarda, susceptibility to}, 176100; {Alzheimer disease, susceptibility to}, 104300 to haemochromatosis type 1 MONDO:0021001
Monogenic Diabetes v0.63 HFE Zornitza Stark Publications for gene: HFE were set to
Monogenic Diabetes v0.62 TFR2 Zornitza Stark Marked gene: TFR2 as ready
Monogenic Diabetes v0.62 TFR2 Zornitza Stark Gene: tfr2 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.62 TFR2 Zornitza Stark Publications for gene: TFR2 were set to
Monogenic Diabetes v0.61 HAMP Zornitza Stark Marked gene: HAMP as ready
Monogenic Diabetes v0.61 HAMP Zornitza Stark Gene: hamp has been classified as Green List (High Evidence).
Monogenic Diabetes v0.61 HAMP Zornitza Stark Publications for gene: HAMP were set to
Monogenic Diabetes v0.60 COQ9 Zornitza Stark Marked gene: COQ9 as ready
Monogenic Diabetes v0.60 COQ9 Zornitza Stark Gene: coq9 has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.60 COQ9 Zornitza Stark Phenotypes for gene: COQ9 were changed from Primary Coenzyme Q10 Deficiency; neonatal hyperglycaemia to encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome MONDO:0013840
Monogenic Diabetes v0.59 COQ9 Zornitza Stark Publications for gene: COQ9 were set to
Monogenic Diabetes v0.58 FOXC2 Hali Van Niel reviewed gene: FOXC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 15523639, 27349002, 11551504; Phenotypes: lymphedema-distichiasis syndrome MONDO:0007922; Mode of inheritance: Unknown
Monogenic Diabetes v0.58 EPHX1 Lauren Rogers Deleted their review
Monogenic Diabetes v0.58 COQ9 Hali Van Niel reviewed gene: COQ9: Rating: RED; Mode of pathogenicity: None; Publications: 19375058, 26081641, 31821167, 11562630; Phenotypes: encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome MONDO:0013840; Mode of inheritance: Unknown
Monogenic Diabetes v0.58 HAMP Hali Van Niel reviewed gene: HAMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 33861982, 12469120, 34828384, 15198949, 33016646; Phenotypes: hemochromatosis type 2B MONDO:0013220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.58 TFR2 Hali Van Niel reviewed gene: TFR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10802645, 12130528, 35065677, 29985876, 26029709, 24055163; Phenotypes: hemochromatosis type 3 MONDO:0011417; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.58 HFE Hali Van Niel reviewed gene: HFE: Rating: GREEN; Mode of pathogenicity: None; Publications: 8696333, 10575540, 20301613, 38560130; Phenotypes: hemochromatosis type 1 MONDO:0021001; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.58 EPHX1 Lauren Rogers reviewed gene: EPHX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hereditary lipodystrophy, MONDO:0020087, EPHX1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.58 GLIS3 Hali Van Niel reviewed gene: GLIS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16715098, 21139041, 35394098; Phenotypes: neonatal diabetes mellitus with congenital hypothyroidism MONDO:0012436; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.58 FOXP3 Hali Van Niel reviewed gene: FOXP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11137992, 32234571, 11137993, 33614561; Phenotypes: immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome MONDO:0010580; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Monogenic Diabetes v0.58 DNAJC3 Hali Van Niel reviewed gene: DNAJC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33486469, 34630333, 34654017, 32738013, 29767246; Phenotypes: juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome MONDO:0014523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.58 DCAF17 Hali Van Niel changed review comment from: Established gene disease association for Woodhouse-Sakati syndrome (also referred to as C2ORF37 gene), diabetes mellitus common presentation is syndrome; to: Established gene disease association for Woodhouse-Sakati syndrome (also referred to as C2ORF37 gene), diabetes mellitus common presentation of syndrome
Monogenic Diabetes v0.58 DCAF17 Hali Van Niel reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: None; Publications: 19026396, 20507343, 35002959, 34732557, 34590781; Phenotypes: Woodhouse-Sakati syndrome MONDO:0009419; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.58 POLD1 Hali Van Niel reviewed gene: POLD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23770608, 33369179, 32826474, 30023403, 29199204, 28791128; Phenotypes: mandibular hypoplasia-deafness-progeroid syndrome MONDO:0014157; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.58 CISD2 Hali Van Niel reviewed gene: CISD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10739754, 17846994, 25056293, 25371195, 7490992; Phenotypes: Wolfram syndrome 2 MONDO:0011502; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.58 ALMS1 Hali Van Niel reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11941369, 17594715; Phenotypes: Alstrom syndrome MONDO:0008763; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.58 HNF1B Zornitza Stark Marked gene: HNF1B as ready
Monogenic Diabetes v0.58 HNF1B Zornitza Stark Gene: hnf1b has been classified as Green List (High Evidence).
Monogenic Diabetes v0.58 HNF1B Zornitza Stark Phenotypes for gene: HNF1B were changed from RENAL CYSTS AND DIABETES SYNDROME; Maturity-Onset Diabetes Of The Young; renal malformation; Diabetes mellitus, noninsulin-dependent, 125853; Renal Cysts and Diabetes Syndrome; Renal cysts and diabetes syndrome, 137920; Transient neonatal diabetes; RCAD; {Renal cell carcinoma}, 144700 to renal cysts and diabetes syndrome MONDO:0007669
Monogenic Diabetes v0.57 HNF1B Zornitza Stark Publications for gene: HNF1B were set to
Monogenic Diabetes v0.56 HNF1B Zornitza Stark Tag SV/CNV tag was added to gene: HNF1B.
Monogenic Diabetes v0.56 AKT2 Zornitza Stark Marked gene: AKT2 as ready
Monogenic Diabetes v0.56 AKT2 Zornitza Stark Gene: akt2 has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.56 AKT2 Zornitza Stark Phenotypes for gene: AKT2 were changed from Diabetes mellitus, type II, 125853; Severe insulin resistance, partial lipodystrophy and diabetes to Diabetes mellitus, type II, 125853
Monogenic Diabetes v0.55 AKT2 Zornitza Stark Classified gene: AKT2 as Red List (low evidence)
Monogenic Diabetes v0.55 AKT2 Zornitza Stark Gene: akt2 has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.54 KCNJ11 Zornitza Stark Phenotypes for gene: KCNJ11 were changed from Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582; {Diabetes mellitus, type 2, susceptibility to}, 125853; Transient Neonatal Diabetes, Dominant; Diabetes, permanent neonatal, 606176; Diabetes mellitus, permanent neonatal, with neurologic features, 606176; Transient Neonatal, 3; Maturity Onset Diabetes of the Young (Dominant); Hyperinsulinemic hypoglycemia, familial, 2, 601820; Diabetes Mellitus, Permanent Neonatal; Diabetes mellitus, trans; Diabetes Mellitus, Transient Neonatal, 3; Diabetes mellitus, transient neonatal, 3, 610582; Maturity Onset Diabetes of the Young; Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive); Transient Neonatal diabetes mellitus (Dominant) to permanent neonatal diabetes mellitus MONDO:0100164
Monogenic Diabetes v0.53 KCNJ11 Zornitza Stark Publications for gene: KCNJ11 were set to
Monogenic Diabetes v0.52 KCNJ11 Hali Van Niel reviewed gene: KCNJ11: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 30086875, 20922570, 28824061, 15115830, 23626843; Phenotypes: permanent neonatal diabetes mellitus MONDO:0100164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.52 AKT2 Hali Van Niel reviewed gene: AKT2: Rating: RED; Mode of pathogenicity: None; Publications: 37105912, 28341696, 15166380; Phenotypes: type 2 diabetes mellitus MONDO:0005148; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.52 HNF1B Hali Van Niel reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 25536396, 9703339, 10484768; Phenotypes: renal cysts and diabetes syndrome MONDO:0007669; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.52 HNF4A Hali Van Niel reviewed gene: HNF4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 8945471, 11590126; Phenotypes: maturity-onset diabetes of the young type 1 MONDO:0007452; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.52 HNF1A Hali Van Niel reviewed gene: HNF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 11162430, 11575290, 36257325; Phenotypes: maturity-onset diabetes of the young type 3 MONDO:0010894, diabetes mellitus MONDO:0005015; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.52 PAX6 Hali Van Niel changed review comment from: PAX6 well established gene disease association for Aniridia
No evidence of association with monogenic diabetes
PMID: 22153401: out of 83 patients with Aniridia, did not find increased incidence of diabetes beyond normal population
PMID: 11756345: one family with cosegregation of T2D and arnidia with PAX6 SNP; to: PAX6 well established gene disease association for Aniridia
No evidence of association with monogenic diabetes
PMID: 22153401: out of 83 patients with Aniridia, did not find increased incidence of diabetes beyond normal population
PMID: 11756345: one family with cosegregation of T2D and Aniridia with PAX6 SNP
Monogenic Diabetes v0.52 PAX6 Hali Van Niel reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: None; Publications: 22153401, 11756345; Phenotypes: aniridia MONDO:0019172; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.52 PPP1R15B Hali Van Niel reviewed gene: PPP1R15B: Rating: RED; Mode of pathogenicity: None; Publications: 26159176, 26307080, 27640355; Phenotypes: microcephaly MONDO:0001149; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.52 BSCL2 Hali Van Niel reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11479539, 26239609; Phenotypes: congenital generalized lipodystrophy type 2 MONDO:0010020, diabetes mellitus MONDO:0005015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.52 SLC19A2 Hali Van Niel reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10391221, 14994241, 22369132, 35114785; Phenotypes: thiamine-responsive megaloblastic anemia syndrome MONDO:0009575, neonatal diabetes mellitus MONDO:0016391, diabetes mellitus MONDO:0005015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.52 SLC29A3 Hali Van Niel reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19336477, 22238637, 38163427, 24894595; Phenotypes: H syndrome MONDO:0011273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.52 SLC40A1 Hali Van Niel reviewed gene: SLC40A1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 34601591, 33341511, 2258529; Phenotypes: hemochromatosis type 4 MONDO:0011631, diabetes mellitus MONDO:0005015; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.52 AGPAT2 Hali Van Niel reviewed gene: AGPAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33651552, 30296183, 35857714, 21847459; Phenotypes: diabetes mellitus MONDO:0005015, congenital generalized lipodystrophy type 1 MONDO:0012071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.52 SLC2A2 Hali Van Niel changed review comment from: Rare presenting feature for recessive Fanconi-Bickel syndrome.
From 104 patients with neonatal diabetes, five (5%) were found to have homozygous SLC2A2 mutations (PMID: 22660720)
Three further patient with neonatal diabetes with SLC2A2 variant detected (PMID: 22060631, PMID: 23456528; 29116606); to: Rare presenting feature for recessive Fanconi-Bickel syndrome.
From 104 patients with neonatal diabetes, five (5%) were found to have homozygous SLC2A2 mutations (PMID: 22660720)
Three further patients with neonatal diabetes with SLC2A2 variant detected (PMID: 22060631, PMID: 23456528; 29116606)
Monogenic Diabetes v0.52 SLC2A2 Hali Van Niel reviewed gene: SLC2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22060631, 23456528, 29116606, 22660720; Phenotypes: neonatal diabetes mellitus MONDO:0016391; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.52 ABCC8 Zornitza Stark Marked gene: ABCC8 as ready
Monogenic Diabetes v0.52 ABCC8 Zornitza Stark Gene: abcc8 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.52 ABCC8 Zornitza Stark Phenotypes for gene: ABCC8 were changed from DIABETES MELLITUS, NONINSULIN-DEPENDENT; Transient Neonatal Diabetes, Dominant; Diabetes mellitus, permanent neonatal, 6; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Diabetes mellitus, noninsulin-dependent, 125853; Permanent Neonatal Diabetes Mellitus; Permanent neonatal diabetes mellitus; transient neonatal diabetes (Dominant); Hypoglycemia of infancy, leucine-sensitive, 240800; Permanent Neonatal Diabetes Mellitus (recessive); Diabetes mellitus, transient neonatal 2, 610374; Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6 to permanent neonatal diabetes mellitus MONDO:0100164; transient neonatal diabetes mellitus MONDO:0020525
Monogenic Diabetes v0.51 ABCC8 Zornitza Stark Publications for gene: ABCC8 were set to
Monogenic Diabetes v0.50 ABCC8 Hali Van Niel reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: (PMID: 21054355, 32027066, 32376986); Phenotypes: permanent neonatal diabetes mellitus MONDO:0100164, transient neonatal diabetes mellitus MONDO:0020525; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Monogenic Diabetes v0.50 APPL1 Bryony Thompson Publications for gene: APPL1 were set to 26073777
Monogenic Diabetes v0.49 APPL1 Bryony Thompson Classified gene: APPL1 as Red List (low evidence)
Monogenic Diabetes v0.49 APPL1 Bryony Thompson Gene: appl1 has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.48 APPL1 Bryony Thompson Deleted their comment
Monogenic Diabetes v0.48 APPL1 Bryony Thompson edited their review of gene: APPL1: Added comment: PMID: 36208030 - a study using the UK Biobank comparing individuals with and without diabetes found LoF variants in APPL1 were ‘Inconsistent’ with being high penetrant for diabetes (failed both statistical criteria - enrichment & comparison to maximum credible allele frequency). Refutes previous study.; Changed rating: RED; Changed publications: 26073777, 36208030
Monogenic Diabetes v0.48 KLF11 Bryony Thompson Marked gene: KLF11 as ready
Monogenic Diabetes v0.48 KLF11 Bryony Thompson Gene: klf11 has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.48 KLF11 Bryony Thompson Publications for gene: KLF11 were set to 15774581; 26248217; 23589285; 31124255
Monogenic Diabetes v0.47 KLF11 Bryony Thompson Classified gene: KLF11 as Red List (low evidence)
Monogenic Diabetes v0.47 KLF11 Bryony Thompson Added comment: Comment on list classification: Association with monogenic diabetes now Refuted Classification - 02/08/2023. ClinGen Monogenic Diabetes GCEP - https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b1e38a49-7c12-4514-a2a1-109e04da146f-2023-02-08T170000.000Z?page=1&size=25&search=
Monogenic Diabetes v0.47 KLF11 Bryony Thompson Gene: klf11 has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.46 PPARG Hali Van Niel reviewed gene: PPARG: Rating: RED; Mode of pathogenicity: None; Publications: 30207237, 34900790; Phenotypes: diabetes mellitus MONDO:0005015; Mode of inheritance: Unknown
Monogenic Diabetes v0.46 ONECUT1 Bryony Thompson Marked gene: ONECUT1 as ready
Monogenic Diabetes v0.46 ONECUT1 Bryony Thompson Gene: onecut1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.46 ONECUT1 Bryony Thompson Phenotypes for gene: ONECUT1 were changed from Syndromic diabetes to Syndromic diabetes; Neonatal diabetes mellitus MONDO:0016391
Monogenic Diabetes v0.45 ONECUT1 Bryony Thompson Publications for gene: ONECUT1 were set to PMID: 34663987
Monogenic Diabetes v0.44 ONECUT1 Bryony Thompson Classified gene: ONECUT1 as Green List (high evidence)
Monogenic Diabetes v0.44 ONECUT1 Bryony Thompson Gene: onecut1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.43 ONECUT1 Bryony Thompson reviewed gene: ONECUT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 37639628, 34663987, 10825208; Phenotypes: Neonatal diabetes mellitus MONDO:0016391; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.43 MANF Zornitza Stark Marked gene: MANF as ready
Monogenic Diabetes v0.43 MANF Zornitza Stark Gene: manf has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.43 MANF Zornitza Stark Classified gene: MANF as Amber List (moderate evidence)
Monogenic Diabetes v0.43 MANF Zornitza Stark Gene: manf has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.42 MANF Zornitza Stark gene: MANF was added
gene: MANF was added to Monogenic Diabetes. Sources: Expert Review
Mode of inheritance for gene: MANF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MANF were set to 26077850; 33500254; 34815294
Phenotypes for gene: MANF were set to Diabetes, deafness, developmental delay, and short stature syndrome, MIM# 620651
Review for gene: MANF was set to AMBER
Added comment: Two individuals reported with homozygous variants. Mouse model recapitulates deafness phenotype.
Sources: Expert Review
Monogenic Diabetes v0.41 EPHX1 Zornitza Stark Phenotypes for gene: EPHX1 were changed from Lipoatrophic diabetes to Hereditary lipodystrophy, MONDO:0020087, EPHX1-related
Monogenic Diabetes v0.40 EPHX1 Zornitza Stark edited their review of gene: EPHX1: Changed phenotypes: Hereditary lipodystrophy, MONDO:0020087, EPHX1-related
Monogenic Diabetes v0.40 ZNF808 Krithika Murali Marked gene: ZNF808 as ready
Monogenic Diabetes v0.40 ZNF808 Krithika Murali Gene: znf808 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.40 ZNF808 Krithika Murali Classified gene: ZNF808 as Green List (high evidence)
Monogenic Diabetes v0.40 ZNF808 Krithika Murali Gene: znf808 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.39 ZNF808 Krithika Murali gene: ZNF808 was added
gene: ZNF808 was added to Monogenic Diabetes. Sources: Literature
Mode of inheritance for gene: ZNF808 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF808 were set to PMID: 37308312
Phenotypes for gene: ZNF808 were set to non-syndromic neonatal diabetes; MONDO:0016391
Review for gene: ZNF808 was set to GREEN
Added comment: PMID: 37308312; Alqahtani, MA. et al. (2023) Clin Genet. doi: 10.1111/cge.14389. Three siblings in one consanguineous Saudi Arabian family with non-syndromic neonatal diabetes, all with a homozygous frameshift variant, NM_001321425.2:c.1448dupA, p.(Tyr483*), in ZNF808. (Same nucleotide and amino acid numbering as for the MANE SELECT transcript, NM_001039886.4). This variant has been entered as likely pathogenic in ClinVar by this group. This variant occurs in the last exon of the gene and is therefore not NMD-predicted. Instead it is predicted to cause a truncated protein. This paper shows a diagram with several other truncating variants in this exon, which were reported in the paper by De Franco, E. et al. (2021). (These patients also had low vitamin D levels, suggesting an association, and is consistent with other studies looking into loci that are associated with vitamin D). De Franco, E. et al. (2021) medRxiv 08.23.21262262. (Exeter, UK): Firstly, this group found a homozygous variant NM_001039886.3:c.637del, p.(Leu213*) that is predicted to cause a truncated protein, and also a homozygous CNV Chr19(GRCh37):g.53057128_53100968del (predicted to cause a deletion of exons 4 and 5) in two unrelated affected individuals. These patients had pancreatic agenesis, defined as insulin-dependent diabetes in the first 6 months of life (neonatal diabetes) and exocrine pancreatic insufficiency. Both were from consanguineous families. Parents were subsequently tested and shown to be heterozygous carriers. They then investigated 232 additional patients who had been diagnosed with neonatal diabetes before the age of 6 months and found ten more homozygous ZNF808 variants. Six were nonsense: p.(Gln194*), p.(Cys233*), p.(Tyr427*), p.(Lys458*), p.(Tyr528*) and p.(Arg727*), and three were frameshift variants: p.(Ala379Valfs*157), p.(Leu588Profs*118), p.(Asn770Ilefs*98) and one was a whole-gene deletion. All the frameshift and nonsense variants occurred in the last exon of the gene, which contains all 23 zinc finger domains; and therefore all of these variants are predicted to result in truncated proteins, and removal of some, if not all, those domains. This group also carried out functional studies using an in vitro model of pancreas development and showed an aberrant activation of many transposable elements (mostly MER11 elements) that would be normally be repressed during early pancreas development.
Sources: Literature
Monogenic Diabetes v0.38 MNX1 Zornitza Stark Marked gene: MNX1 as ready
Monogenic Diabetes v0.38 MNX1 Zornitza Stark Gene: mnx1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.38 MNX1 Zornitza Stark Phenotypes for gene: MNX1 were changed from to Permanent neonatal diabetes mellitus, MONDO:0100164, MNX1-related
Monogenic Diabetes v0.37 MNX1 Zornitza Stark reviewed gene: MNX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36586106; Phenotypes: Permanent neonatal diabetes mellitus, MONDO:0100164, MNX1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.37 SMPD4 Elena Savva Classified gene: SMPD4 as Green List (high evidence)
Monogenic Diabetes v0.37 SMPD4 Elena Savva Gene: smpd4 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.36 SMPD4 Elena Savva Marked gene: SMPD4 as ready
Monogenic Diabetes v0.36 SMPD4 Elena Savva Gene: smpd4 has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.36 SMPD4 Elena Savva gene: SMPD4 was added
gene: SMPD4 was added to Monogenic Diabetes. Sources: Literature
Mode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMPD4 were set to PMID: 36732302
Phenotypes for gene: SMPD4 were set to Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies MIM#618622
Review for gene: SMPD4 was set to GREEN
Added comment: PMID: 36732302 - five individuals with microcephaly, brain anomalies and insulin-dependent diabetes in childhood. Reviews past reports, notes 27% of patients have insulin-dependent diabetes.
Sources: Literature
Monogenic Diabetes v0.35 FICD Elena Savva Marked gene: FICD as ready
Monogenic Diabetes v0.35 FICD Elena Savva Gene: ficd has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.35 FICD Elena Savva Classified gene: FICD as Amber List (moderate evidence)
Monogenic Diabetes v0.35 FICD Elena Savva Gene: ficd has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.34 FICD Elena Savva gene: FICD was added
gene: FICD was added to Monogenic Diabetes. Sources: Literature
Mode of inheritance for gene: FICD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FICD were set to 36704923; 36136088
Phenotypes for gene: FICD were set to Monogenic diabetes, MONDO:0015967, FICD-related
Review for gene: FICD was set to AMBER
Added comment: PMID: 36704923:
- five individuals (3 families) w/ infancy onset diabetes mellitus (5/5) and severe neurodevelopmental delay (4/5)
- all homozygous for p.R371S
- variant expression in E. coli showed loss of affinity, deregulates BiP-AMP and affects secretion

PMID: 36136088:
- 1/5 with diabetes mellitus, affect sibling has no diabetes
Sources: Literature
Monogenic Diabetes v0.33 Zornitza Stark HPO terms changed from to Diabetes mellitus, HP:0000819
List of related panels changed from to Diabetes mellitus; HP:0000819
Monogenic Diabetes v0.32 ONECUT1 Teresa Zhao gene: ONECUT1 was added
gene: ONECUT1 was added to Monogenic Diabetes. Sources: Literature
Mode of inheritance for gene: ONECUT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ONECUT1 were set to PMID: 34663987
Phenotypes for gene: ONECUT1 were set to Syndromic diabetes
Review for gene: ONECUT1 was set to AMBER
Added comment: Two homozygous ONECUT1 variants (p.E231* and p.E231D) identified in two unrelated patients, respectively, with intrauterine growth retardation, pancreas hypoplasia and gallbladder agenesis/hypoplasia, and early-onset diabetes.
Sources: Literature
Monogenic Diabetes v0.32 PDIA6 Chirag Patel edited their review of gene: PDIA6: Added comment: 2nd patient with large polycystic kidneys, death and end stage renal failure at 18 months, microcephaly, bilateral inguinal hernias, umbilical hernia, developmental delay, bilateral sensorineural hearing loss, visual impairment, steatorrhea, fibrotic changes in liver, and insulin-dependent diabetes. WGS found homozygous stop-gain variant (Tyr368*) in PDIA6. Segregation not performed.; Changed rating: AMBER; Changed publications: PMID: 35856135; Changed phenotypes: Polycystic kidney disease, infancy-onset diabetes, and microcephaly
Monogenic Diabetes v0.32 PAX4 Zornitza Stark Mode of inheritance for gene: PAX4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.31 PAX4 Zornitza Stark Classified gene: PAX4 as Red List (low evidence)
Monogenic Diabetes v0.31 PAX4 Zornitza Stark Gene: pax4 has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.30 PAX4 Zornitza Stark Tag refuted tag was added to gene: PAX4.
Monogenic Diabetes v0.30 PAX4 Krithika Murali reviewed gene: PAX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Maturity-onset diabetes of the young, type IX - MIM#612225; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.30 EIF2B1 Zornitza Stark Marked gene: EIF2B1 as ready
Monogenic Diabetes v0.30 EIF2B1 Zornitza Stark Gene: eif2b1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.30 EIF2B1 Zornitza Stark Classified gene: EIF2B1 as Green List (high evidence)
Monogenic Diabetes v0.30 EIF2B1 Zornitza Stark Gene: eif2b1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.29 EIF2B1 Zornitza Stark gene: EIF2B1 was added
gene: EIF2B1 was added to Monogenic Diabetes. Sources: Expert Review
Mode of inheritance for gene: EIF2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF2B1 were set to 31882561
Phenotypes for gene: EIF2B1 were set to Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related
Review for gene: EIF2B1 was set to GREEN
Added comment: PMID: 31882561: heterozygous de novo variants in 5 patients with permanent neonatal/early onset diabetes and transient liver dysfunction (4 missense, 1 stop-loss). No functional studies performed, missense clustered within a small region (p.Leu34-Ser77).
Sources: Expert Review
Monogenic Diabetes v0.28 GCK Zornitza Stark Marked gene: GCK as ready
Monogenic Diabetes v0.28 GCK Zornitza Stark Gene: gck has been classified as Green List (High Evidence).
Monogenic Diabetes v0.28 GCK Zornitza Stark Phenotypes for gene: GCK were changed from Permanent neonatal diabetes; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; Diabetes mellitus, permanent neonatal, 606176; Maturity-onset diabetes of the young (MODY); Permanent Neonatal Diabetes Mellitus; Maturity Onset Diabetes of the Young (Dominant); MODY, type II, 125851; Fasting hyperglycaemia; Maturity Onset Diabetes of the Young; Neonatal diabetes; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Permanent Neonatal Diabetes Mellitus (recessive); Transient Neonatal Diabetes, Recessive; Diabetes mellitus, noninsulin-dependent, late onset, 125853; MODY2; Diabetes mellitus, gestational, 125851 to Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853); Diabetes mellitus, permanent neonatal 1, AR (MIM#606176); Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485); MODY, type II, AD (MIM#125851)
Monogenic Diabetes v0.27 GCK Zornitza Stark Publications for gene: GCK were set to
Monogenic Diabetes v0.26 GCK Chirag Patel reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19790256; Phenotypes: Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853), Diabetes mellitus, permanent neonatal 1, AR (MIM#606176), Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485), MODY, type II, AD (MIM#125851); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Monogenic Diabetes v0.26 DYRK1B Zornitza Stark Marked gene: DYRK1B as ready
Monogenic Diabetes v0.26 DYRK1B Zornitza Stark Gene: dyrk1b has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.26 DYRK1B Zornitza Stark Publications for gene: DYRK1B were set to
Monogenic Diabetes v0.25 DYRK1B Zornitza Stark Mode of inheritance for gene: DYRK1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.24 DYRK1B Zornitza Stark Classified gene: DYRK1B as Amber List (moderate evidence)
Monogenic Diabetes v0.24 DYRK1B Zornitza Stark Gene: dyrk1b has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.23 DYRK1B Krithika Murali reviewed gene: DYRK1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 34193236, 34786696, 24827035, 28743892; Phenotypes: Abdominal obesity-metabolic syndrome 3 - MIM#615812; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.23 EPHX1 Zornitza Stark Marked gene: EPHX1 as ready
Monogenic Diabetes v0.23 EPHX1 Zornitza Stark Gene: ephx1 has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.23 EPHX1 Zornitza Stark Classified gene: EPHX1 as Amber List (moderate evidence)
Monogenic Diabetes v0.23 EPHX1 Zornitza Stark Gene: ephx1 has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.22 EPHX1 Zornitza Stark gene: EPHX1 was added
gene: EPHX1 was added to Monogenic Diabetes. Sources: Literature
Mode of inheritance for gene: EPHX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EPHX1 were set to 34342583
Phenotypes for gene: EPHX1 were set to Lipoatrophic diabetes
Review for gene: EPHX1 was set to AMBER
Added comment: Two individuals reported with de novo variants in this gene and lipoatrophic diabetes characterized by loss of adipose tissue, insulin resistance, and multiple organ dysfunction. CRISPR-Cas9-mediated EPHX1 knockout (KO) abolished adipocyte differentiation and decreased insulin response. This KO also promoted oxidative stress and cellular senescence, an observation confirmed in patient-derived fibroblasts.
Sources: Literature
Monogenic Diabetes v0.21 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Monogenic Diabetes v0.20 APPL1 Bryony Thompson Marked gene: APPL1 as ready
Monogenic Diabetes v0.20 APPL1 Bryony Thompson Gene: appl1 has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.20 APPL1 Bryony Thompson Publications for gene: APPL1 were set to
Monogenic Diabetes v0.19 APPL1 Bryony Thompson Classified gene: APPL1 as Amber List (moderate evidence)
Monogenic Diabetes v0.19 APPL1 Bryony Thompson Gene: appl1 has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.18 KLF11 Bryony Thompson Publications for gene: KLF11 were set to
Monogenic Diabetes v0.17 KLF11 Bryony Thompson Classified gene: KLF11 as Amber List (moderate evidence)
Monogenic Diabetes v0.17 KLF11 Bryony Thompson Gene: klf11 has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.15 PLIN1 Zornitza Stark Tag disputed tag was added to gene: PLIN1.
Monogenic Diabetes v0.15 PLIN1 Zornitza Stark Marked gene: PLIN1 as ready
Monogenic Diabetes v0.15 PLIN1 Zornitza Stark Gene: plin1 has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.15 PLIN1 Zornitza Stark Phenotypes for gene: PLIN1 were changed from Lipodystrophy, familial partial, type 4, 613877; partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes; Severe insulin resistance, partial lipodystrophy and diabetes to Lipodystrophy, familial partial, type 4, 613877; Severe insulin resistance, partial lipodystrophy and diabetes
Monogenic Diabetes v0.14 PLIN1 Zornitza Stark Classified gene: PLIN1 as Amber List (moderate evidence)
Monogenic Diabetes v0.14 PLIN1 Zornitza Stark Gene: plin1 has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.13 PLIN1 Zornitza Stark reviewed gene: PLIN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21345103, 31504636, 30020498, 25114292; Phenotypes: Lipodystrophy, familial partial, type 4, MIM# 613877; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.13 YIPF5 Zornitza Stark Phenotypes for gene: YIPF5 were changed from Neonatal diabetes; microcephaly; seizures to Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278
Monogenic Diabetes v0.12 YIPF5 Zornitza Stark edited their review of gene: YIPF5: Changed phenotypes: Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278
Monogenic Diabetes v0.12 PDIA6 Zornitza Stark Marked gene: PDIA6 as ready
Monogenic Diabetes v0.12 PDIA6 Zornitza Stark Gene: pdia6 has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.12 PDIA6 Zornitza Stark Classified gene: PDIA6 as Amber List (moderate evidence)
Monogenic Diabetes v0.12 PDIA6 Zornitza Stark Gene: pdia6 has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.11 PDIA6 Zornitza Stark reviewed gene: PDIA6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.11 PDIA6 Chirag Patel gene: PDIA6 was added
gene: PDIA6 was added to Monogenic Diabetes. Sources: Literature
Mode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDIA6 were set to PMID: 33495992
Phenotypes for gene: PDIA6 were set to Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes
Review for gene: PDIA6 was set to RED
Added comment: 1 case with asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes. Whole exome sequencing revealed a homozygous frameshift variant in the PDIA6 gene. RNA expression was reduced in a gene dosage‐dependent manner, supporting a loss‐of‐function effect of this variant. Phenotypic correlation with the previously reported mouse model recapitulated the growth defect and delay, early lethality, coagulation, diabetes, immunological, and polycystic kidney disease phenotypes. The phenotype of the current patient is consistent with phenotypes associated with the disruption of PDIA6 and the sensors of UPR in mice and humans.
Sources: Literature
Monogenic Diabetes v0.10 IER3IP1 Zornitza Stark Marked gene: IER3IP1 as ready
Monogenic Diabetes v0.10 IER3IP1 Zornitza Stark Gene: ier3ip1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.10 IER3IP1 Zornitza Stark Phenotypes for gene: IER3IP1 were changed from Microcephaly, epilepsy, and diabetes syndrome to Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231; Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647
Monogenic Diabetes v0.9 IER3IP1 Zornitza Stark reviewed gene: IER3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21835305, 22991235, 24138066, 28711742; Phenotypes: Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231, Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.9 PCBD1 Alison Yeung Marked gene: PCBD1 as ready
Monogenic Diabetes v0.9 PCBD1 Alison Yeung Gene: pcbd1 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.9 PAX4 Seb Lunke Marked gene: PAX4 as ready
Monogenic Diabetes v0.9 PAX4 Seb Lunke Gene: pax4 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.9 PAX4 Seb Lunke Phenotypes for gene: PAX4 were changed from Maturity-onset diabetes of the young, type IX, 612225; Maturity Onset Diabetes of the Young to Maturity-onset diabetes of the young, type IX MIM#612225
Monogenic Diabetes v0.8 PAX4 Seb Lunke Publications for gene: PAX4 were set to
Monogenic Diabetes v0.7 PAX4 Seb Lunke Classified gene: PAX4 as Green List (high evidence)
Monogenic Diabetes v0.7 PAX4 Seb Lunke Gene: pax4 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.6 PAX4 Seb Lunke reviewed gene: PAX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17426099, 14561778, 25951767, 21263211; Phenotypes: Maturity-onset diabetes of the young, type IX MIM#612225; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.6 PCBD1 Michelle Torres reviewed gene: PCBD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24848070, 24204001; Phenotypes: MODY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.6 YIPF5 Zornitza Stark Marked gene: YIPF5 as ready
Monogenic Diabetes v0.6 YIPF5 Zornitza Stark Gene: yipf5 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.6 YIPF5 Zornitza Stark Classified gene: YIPF5 as Green List (high evidence)
Monogenic Diabetes v0.6 YIPF5 Zornitza Stark Gene: yipf5 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.5 YIPF5 Zornitza Stark gene: YIPF5 was added
gene: YIPF5 was added to Monogenic Diabetes. Sources: Literature
Mode of inheritance for gene: YIPF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YIPF5 were set to 33164986
Phenotypes for gene: YIPF5 were set to Neonatal diabetes; microcephaly; seizures
Review for gene: YIPF5 was set to GREEN
Added comment: Six individuals from 5 unrelated consanguineous families reported with bi-allelic variants in this gene and neonatal/early-onset diabetes, severe microcephaly, and epilepsy. Functional data supports gene-disease association.
Sources: Literature
Monogenic Diabetes v0.4 HFE2 Zornitza Stark Marked gene: HFE2 as ready
Monogenic Diabetes v0.4 HFE2 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name is HJV.
Monogenic Diabetes v0.4 HFE2 Zornitza Stark Gene: hfe2 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.4 HFE2 Zornitza Stark Tag new gene name tag was added to gene: HFE2.
Monogenic Diabetes v0.4 CEL Zornitza Stark Marked gene: CEL as ready
Monogenic Diabetes v0.4 CEL Zornitza Stark Added comment: Comment when marking as ready: Agree, only frameshift mutations in the VNTR-containing exon 11 have evidence for pathogenicity.
Monogenic Diabetes v0.4 CEL Zornitza Stark Gene: cel has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.4 CEL Zornitza Stark Classified gene: CEL as Amber List (moderate evidence)
Monogenic Diabetes v0.4 CEL Zornitza Stark Gene: cel has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.3 CEL Elena Savva reviewed gene: CEL: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24062244, 21784842, 19760265, 18544793, 17989309, 16369531, 29233499, 27650499; Phenotypes: Maturity-onset diabetes of the young, type VIII; Mode of inheritance: None
Monogenic Diabetes v0.3 KCNJ11 Zornitza Stark Marked gene: KCNJ11 as ready
Monogenic Diabetes v0.3 KCNJ11 Zornitza Stark Gene: kcnj11 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.3 NKX2-2 Zornitza Stark Marked gene: NKX2-2 as ready
Monogenic Diabetes v0.3 NKX2-2 Zornitza Stark Added comment: Comment when marking as ready: Mouse model also supports gene-disease association.
Monogenic Diabetes v0.3 NKX2-2 Zornitza Stark Gene: nkx2-2 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.3 NKX2-2 Zornitza Stark Publications for gene: NKX2-2 were set to 24411943
Monogenic Diabetes v0.2 NKX2-2 Zornitza Stark Phenotypes for gene: NKX2-2 were changed from to Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment
Monogenic Diabetes v0.1 NKX2-2 Zornitza Stark reviewed gene: NKX2-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24411943; Phenotypes: Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.1 Zornitza Stark Panel name changed from Monogenic diabetes to Monogenic Diabetes
Panel types changed to Rare Disease; Victorian Clinical Genetics Services
Monogenic Diabetes v0.0 ZMPSTE24 Zornitza Stark gene: ZMPSTE24 was added
gene: ZMPSTE24 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZMPSTE24 were set to 12913070; 15317753; 20034068; 16297189; 18435794
Phenotypes for gene: ZMPSTE24 were set to Mandibuloacral dysplasia with type B lipodystrophy, 608612
Monogenic Diabetes v0.0 ZFP57 Zornitza Stark gene: ZFP57 was added
gene: ZFP57 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ZFP57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFP57 were set to Diabetes mellitus, transient neonatal, 1, 601410; Transient Neonatal Diabetes; Transient Neonatal Diabetes, Recessive
Monogenic Diabetes v0.0 ZBTB20 Zornitza Stark gene: ZBTB20 was added
gene: ZBTB20 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ZBTB20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZBTB20 were set to 20644156; 25017102
Phenotypes for gene: ZBTB20 were set to Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications); Primrose syndrome, 259050
Monogenic Diabetes v0.0 WFS1 Zornitza Stark gene: WFS1 was added
gene: WFS1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: WFS1 were set to 27185633; 27217304
Phenotypes for gene: WFS1 were set to Wolfram-like syndrome, autosomal dominant, 614296; Wolfram syndrome, 222300; Deafness, autosomal dominant 6/14/38, 600965; ?Cataract 41,116400; {Diabetes mellitus, noninsulin-dependent, association with}, 125853; Deafness,autosomal dominant 6/14/38, 600965; {Diabetes mellitus, noninsulin-dependent,association with}; diabetes insipidus or optic atrophy
Monogenic Diabetes v0.0 TRMT10A Zornitza Stark gene: TRMT10A was added
gene: TRMT10A was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT10A were set to 26297882; 24204302
Phenotypes for gene: TRMT10A were set to Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability; failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability; Microcephaly, short stature, and impaired glucose metabolism 1, 616033
Monogenic Diabetes v0.0 TFR2 Zornitza Stark gene: TFR2 was added
gene: TFR2 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TFR2 were set to Hemochromatosis, type 3 604250
Monogenic Diabetes v0.0 STAT3 Zornitza Stark gene: STAT3 was added
gene: STAT3 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green
Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STAT3 were set to 25038750; 27167055
Mode of pathogenicity for gene: STAT3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic Diabetes v0.0 STAT1 Zornitza Stark gene: STAT1 was added
gene: STAT1 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Red
Mode of inheritance for gene: STAT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STAT1 were set to 23534974
Mode of pathogenicity for gene: STAT1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic Diabetes v0.0 SLC40A1 Zornitza Stark gene: SLC40A1 was added
gene: SLC40A1 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: SLC40A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC40A1 were set to Hemochromatosis, type 4 606069
Monogenic Diabetes v0.0 SLC2A2 Zornitza Stark gene: SLC2A2 was added
gene: SLC2A2 was added to Monogenic diabetes. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC2A2 were set to PMID: 23456528; 22831748; 22660720
Phenotypes for gene: SLC2A2 were set to {Diabetes mellitus, noninsulin-dependent}; Fanconi-Bickel syndrome
Monogenic Diabetes v0.0 SLC29A3 Zornitza Stark gene: SLC29A3 was added
gene: SLC29A3 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC29A3 were set to 19336477
Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome,602782; Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome; H syndrome (hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycaemia) and PHID syndrome (pigmented hypertrichosis with insulin dependent diabetes)
Monogenic Diabetes v0.0 SLC19A2 Zornitza Stark gene: SLC19A2 was added
gene: SLC19A2 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green
Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC19A2 were set to 26549656; 26839896
Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome; MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS ROGERS SYNDROME
Monogenic Diabetes v0.0 RFX6 Zornitza Stark gene: RFX6 was added
gene: RFX6 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFX6 were set to 27167055; 27185633; 26770845; 26761945; 26264437; 26559129; 25048417
Phenotypes for gene: RFX6 were set to Mitchell-Riley syndrome, 615710; Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities; recessive syndromic diabetes and autosomal dominant MODY
Monogenic Diabetes v0.0 PTF1A Zornitza Stark gene: PTF1A was added
gene: PTF1A was added to Monogenic diabetes. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTF1A were set to Permanent neonatal diabetes mellitus (PNDM); Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069
Monogenic Diabetes v0.0 PPP1R15B Zornitza Stark gene: PPP1R15B was added
gene: PPP1R15B was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PPP1R15B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPP1R15B were set to Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability,616817
Monogenic Diabetes v0.0 PPARG Zornitza Stark gene: PPARG was added
gene: PPARG was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PPARG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPARG were set to Insulin resistance, severe, digenic; FPLD3; Obesity, severe, 601665; {Diabetes, type 2}, 125853; Lipodystrophy, familial partial, type 3; Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension; Insulin resistance, severe, digenic 604367; [Obesity, resistance to]; Lipodystrophy, familial partial, type 3, 604367; Insulin resistance, severe, digenic, 604367; Lipodystrophy, familial partial, type 3 604367; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; Carotid intimal medial thickness 1, 609338
Monogenic Diabetes v0.0 POLD1 Zornitza Stark gene: POLD1 was added
gene: POLD1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: POLD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLD1 were set to 23770608
Phenotypes for gene: POLD1 were set to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381; multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males
Mode of pathogenicity for gene: POLD1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic Diabetes v0.0 PLIN1 Zornitza Stark gene: PLIN1 was added
gene: PLIN1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PLIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLIN1 were set to 11371650; 21345103; 25695774; 30020498
Phenotypes for gene: PLIN1 were set to Lipodystrophy, familial partial, type 4, 613877; partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes; Severe insulin resistance, partial lipodystrophy and diabetes
Monogenic Diabetes v0.0 PIK3R1 Zornitza Stark gene: PIK3R1 was added
gene: PIK3R1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIK3R1 were set to 23810378
Phenotypes for gene: PIK3R1 were set to Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880; SHORT syndrome
Mode of pathogenicity for gene: PIK3R1 was set to Other - please provide details in the comments
Monogenic Diabetes v0.0 PDX1 Zornitza Stark gene: PDX1 was added
gene: PDX1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDX1 were set to Permanent neonatal diabetes; Maturity-Onset Diabetes Of The Young; Maturity-onset diabetes of the young (MODY); MODY type IV; Recessive neonatal diabetes, pancreatic agenesis and dominant MODY, 606392; MODY4; Pancreatic agenesis 1; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4
Monogenic Diabetes v0.0 PCBD1 Zornitza Stark gene: PCBD1 was added
gene: PCBD1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCBD1 were set to 24204001; 24848070
Phenotypes for gene: PCBD1 were set to Hyperphenylalaninemia, BH4-deficient, D, 264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty)
Monogenic Diabetes v0.0 PAX6 Zornitza Stark gene: PAX6 was added
gene: PAX6 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX6 were set to Aniridia 106210; diabetes
Monogenic Diabetes v0.0 PAX4 Zornitza Stark gene: PAX4 was added
gene: PAX4 was added to Monogenic diabetes. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: PAX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX4 were set to Maturity-onset diabetes of the young, type IX, 612225; Maturity Onset Diabetes of the Young
Monogenic Diabetes v0.0 NKX2-2 Zornitza Stark gene: NKX2-2 was added
gene: NKX2-2 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green
Mode of inheritance for gene: NKX2-2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NKX2-2 were set to 24411943
Monogenic Diabetes v0.0 NEUROG3 Zornitza Stark gene: NEUROG3 was added
gene: NEUROG3 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green
Mode of inheritance for gene: NEUROG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEUROG3 were set to 25650326; 26288179
Monogenic Diabetes v0.0 NEUROD1 Zornitza Stark gene: NEUROD1 was added
gene: NEUROD1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NEUROD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NEUROD1 were set to 20573748; 10545951; 26773576; 26669242
Phenotypes for gene: NEUROD1 were set to MODY6; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity Onset Diabetes of the Young; Maturity-onset diabetes of the young 6, 606394; Permanent neonatal diabetes and cerebellar agenesis
Monogenic Diabetes v0.0 MNX1 Zornitza Stark gene: MNX1 was added
gene: MNX1 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green
Mode of inheritance for gene: MNX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MNX1 were set to 24411943; 23562494; 26534984
Monogenic Diabetes v0.0 LRBA Zornitza Stark gene: LRBA was added
gene: LRBA was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRBA were set to 25468195; 25479458; 26206937; 26745254; 27057999
Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity
Monogenic Diabetes v0.0 LMNA Zornitza Stark gene: LMNA was added
gene: LMNA was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMNA were set to 24002959; 26775134
Phenotypes for gene: LMNA were set to Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules; Severe insulin resistance, partial lipodystrophy and diabetes; FPLD2; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; Lipodystrophy, familial partial, 2, 151660
Monogenic Diabetes v0.0 LIPC Zornitza Stark gene: LIPC was added
gene: LIPC was added to Monogenic diabetes. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: LIPC was set to Unknown
Phenotypes for gene: LIPC were set to {Diabetes mellitus, noninsulin-dependent}, 125853; [High density lipoprotein cholesterol level QTL 12], 612797; Hepatic lipase deficiency, 614025
Monogenic Diabetes v0.0 KLF11 Zornitza Stark gene: KLF11 was added
gene: KLF11 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Red
Mode of inheritance for gene: KLF11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KLF11 were set to Maturity-onset diabetes of the young, type VII, 610508; Maturity Onset Diabetes of the Young
Monogenic Diabetes v0.0 KCNJ11 Zornitza Stark gene: KCNJ11 was added
gene: KCNJ11 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KCNJ11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNJ11 were set to Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582; {Diabetes mellitus, type 2, susceptibility to}, 125853; Transient Neonatal Diabetes, Dominant; Diabetes, permanent neonatal, 606176; Diabetes mellitus, permanent neonatal, with neurologic features, 606176; Transient Neonatal, 3; Maturity Onset Diabetes of the Young (Dominant); Hyperinsulinemic hypoglycemia, familial, 2, 601820; Diabetes Mellitus, Permanent Neonatal; Diabetes mellitus, trans; Diabetes Mellitus, Transient Neonatal, 3; Diabetes mellitus, transient neonatal, 3, 610582; Maturity Onset Diabetes of the Young; Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive); Transient Neonatal diabetes mellitus (Dominant)
Mode of pathogenicity for gene: KCNJ11 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic Diabetes v0.0 INSR Zornitza Stark gene: INSR was added
gene: INSR was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: INSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: INSR were set to 8288049
Phenotypes for gene: INSR were set to Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Hyperinsulinemic hypoglycemia, familial, 5, 609968; Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans; Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities; DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS; Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans; Leprechaunism, 246200; OMIM 610549; Diabetes mellitus, insulin-resistant, with acanthosis nigricans; Rabson-Mendenhall syndrome, 262190
Monogenic Diabetes v0.0 INS Zornitza Stark gene: INS was added
gene: INS was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: INS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: INS were set to Diabetes mellitus, insulin-dependent, 2, 125852; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; Diabetes mellitus, type 1, 125852; Maturity-onset diabetes of the young, type 10, 613370; Transient Neonatal Diabetes, Dominant/Recessive; Diabetes mellitus, permanent neonatal, 606176; Hyperproinsulinemia, familial, with or without diabetes; Maturity Onset Diabetes of the Young (Dominant); MODY10; Maturity Onset Diabetes of the Young; Permanent Neonatal diabetes mellitus
Monogenic Diabetes v0.0 IL2RA Zornitza Stark gene: IL2RA was added
gene: IL2RA was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green,NHS GMS
Mode of inheritance for gene: IL2RA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL2RA were set to 17196245
Phenotypes for gene: IL2RA were set to Neoantal diabetes, congenital hypothyrodism (multiple autoimmune) Recessive; {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942; insulin-dependent diabetes mellitus at 8-weeks; IPEX-like syndrome; neonatal diabetes
Monogenic Diabetes v0.0 IER3IP1 Zornitza Stark gene: IER3IP1 was added
gene: IER3IP1 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green
Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IER3IP1 were set to 22991235; 24138066; 21835305
Phenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome
Monogenic Diabetes v0.0 HNF4A Zornitza Stark gene: HNF4A was added
gene: HNF4A was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNF4A were set to 28242437
Phenotypes for gene: HNF4A were set to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026; Maturity-Onset Diabetes Of The Young, Type 1; MODY1, 125850; {Diabetes mellitus, noninsulin-dependent}, 125853
Monogenic Diabetes v0.0 HNF1B Zornitza Stark gene: HNF1B was added
gene: HNF1B was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF1B were set to RENAL CYSTS AND DIABETES SYNDROME; Maturity-Onset Diabetes Of The Young; renal malformation; Diabetes mellitus, noninsulin-dependent, 125853; Renal Cysts and Diabetes Syndrome; Renal cysts and diabetes syndrome, 137920; Transient neonatal diabetes; RCAD; {Renal cell carcinoma}, 144700
Monogenic Diabetes v0.0 HNF1A Zornitza Stark gene: HNF1A was added
gene: HNF1A was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF1A were set to MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3; Maturity-Onset Diabetes Of The Young; MODY, type III, 600496; Maturity-onset diabetes of the young (MODY); MODY, type III, 600496{Diabetes mellitus, noninsulin-dependent, 2}, 125853{Diabetes mellitus, insulin-dependent}, 222100Hepatic adenoma, somatic, 142330Renal cell carcinoma, 144700Diabetes mellitus, insulin-dependent, 20, 612520; {Diabetes mellitus, noninsulin-dependent, 2}, 125853; Diabetes mellitus, insulin-dependent, 20, 612520; {Diabetes mellitus, insulin-dependent}, 222100; Maturity Onset Diabetes of the Young; MODY3
Monogenic Diabetes v0.0 HFE2 Zornitza Stark gene: HFE2 was added
gene: HFE2 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFE2 were set to Hemochromatosis, type 2A, 602390
Monogenic Diabetes v0.0 HFE Zornitza Stark gene: HFE was added
gene: HFE was added to Monogenic diabetes. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFE were set to {Porphyria variegata, susceptibility to}, 176200; Hemochromatosis, 235200; {Microvascular complications of diabetes 7}, 612635; {Porphyria cutanea tarda, susceptibility to}, 176100; {Alzheimer disease, susceptibility to}, 104300
Monogenic Diabetes v0.0 HAMP Zornitza Stark gene: HAMP was added
gene: HAMP was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HAMP were set to Hemochromatosis, type 2B 613313
Monogenic Diabetes v0.0 GLIS3 Zornitza Stark gene: GLIS3 was added
gene: GLIS3 was added to Monogenic diabetes. Sources: Expert Review Removed,UKGTN,Expert Review Green
Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLIS3 were set to Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism; Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 -3
Monogenic Diabetes v0.0 GCK Zornitza Stark gene: GCK was added
gene: GCK was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GCK was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: GCK were set to Permanent neonatal diabetes; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; Diabetes mellitus, permanent neonatal, 606176; Maturity-onset diabetes of the young (MODY); Permanent Neonatal Diabetes Mellitus; Maturity Onset Diabetes of the Young (Dominant); MODY, type II, 125851; Fasting hyperglycaemia; Maturity Onset Diabetes of the Young; Neonatal diabetes; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Permanent Neonatal Diabetes Mellitus (recessive); Transient Neonatal Diabetes, Recessive; Diabetes mellitus, noninsulin-dependent, late onset, 125853; MODY2; Diabetes mellitus, gestational, 125851
Monogenic Diabetes v0.0 GATA6 Zornitza Stark gene: GATA6 was added
gene: GATA6 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GATA6 were set to 25706805; 25708516; 25356219; 22158542; 27098067; 23635550; 22806356; 24310933; 23223019; 22962692; 26210631; 24433315; 23639568
Phenotypes for gene: GATA6 were set to Pancreatic agenesis and congenital heart defects; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes); PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS
Monogenic Diabetes v0.0 GATA4 Zornitza Stark gene: GATA4 was added
gene: GATA4 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green,NHS GMS
Mode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATA4 were set to 27810688; 24696446; 20854389
Monogenic Diabetes v0.0 FOXP3 Zornitza Stark gene: FOXP3 was added
gene: FOXP3 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green
Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Monogenic Diabetes v0.0 FOXC2 Zornitza Stark gene: FOXC2 was added
gene: FOXC2 was added to Monogenic diabetes. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: FOXC2 was set to Unknown
Phenotypes for gene: FOXC2 were set to Lymphedema-distichiasis syndrome, 153400; Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400
Monogenic Diabetes v0.0 EIF2S3 Zornitza Stark gene: EIF2S3 was added
gene: EIF2S3 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: EIF2S3 were set to 28055140
Phenotypes for gene: EIF2S3 were set to microcephaly; MEHMO syndrome (X-linked NDM and microcephaly),300148; diabetes; epilepsy; hypogonadism; intellectual disability; hypogenitalism; central obesity
Monogenic Diabetes v0.0 EIF2AK3 Zornitza Stark gene: EIF2AK3 was added
gene: EIF2AK3 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green
Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2AK3 were set to 19837917
Phenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome; Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus
Monogenic Diabetes v0.0 DYRK1B Zornitza Stark gene: DYRK1B was added
gene: DYRK1B was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DYRK1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DYRK1B were set to Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes); Abdominal obesity-metabolic syndrome 3, 615812
Monogenic Diabetes v0.0 DNAJC3 Zornitza Stark gene: DNAJC3 was added
gene: DNAJC3 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DNAJC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC3 were set to Autosomal recessive juvenile-onset diabetes with central and peripheral neurodegeneration; ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192
Monogenic Diabetes v0.0 DMXL2 Zornitza Stark gene: DMXL2 was added
gene: DMXL2 was added to Monogenic diabetes. Sources: Expert Review Amber,Other
Mode of inheritance for gene: DMXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DMXL2 were set to 22875945; 27657680; 25248098
Phenotypes for gene: DMXL2 were set to Sensorineural Hearing Loss; OMIM:612186; ORPHA90636
Monogenic Diabetes v0.0 DCAF17 Zornitza Stark gene: DCAF17 was added
gene: DCAF17 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCAF17 were set to 24464444; 19026396; 20507343
Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome (hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness); Woodhouse-Sakati syndrome, 241080
Monogenic Diabetes v0.0 COQ9 Zornitza Stark gene: COQ9 was added
gene: COQ9 was added to Monogenic diabetes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ9 were set to Primary Coenzyme Q10 Deficiency; neonatal hyperglycaemia
Monogenic Diabetes v0.0 COQ2 Zornitza Stark gene: COQ2 was added
gene: COQ2 was added to Monogenic diabetes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ2 were set to neonatal hyperglycaemia, Primary Coenzyme Q10 Deficiency
Monogenic Diabetes v0.0 CISD2 Zornitza Stark gene: CISD2 was added
gene: CISD2 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CISD2 were set to 25056293; 17846994
Phenotypes for gene: CISD2 were set to Wolfram syndrome 2604928
Monogenic Diabetes v0.0 CIDEC Zornitza Stark gene: CIDEC was added
gene: CIDEC was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: CIDEC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIDEC were set to 20049731
Phenotypes for gene: CIDEC were set to Lipodystrophy, familial partial, type 5
Monogenic Diabetes v0.0 CEL Zornitza Stark gene: CEL was added
gene: CEL was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CEL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CEL were set to 19760265; 21784842; 27650499; 18544793; 17989309; 24062244; 16369531; 25160620
Phenotypes for gene: CEL were set to Diabetes and pancreatic exocrine dysfunction; Maturity-onset diabetes of the young, type VIII, 609812
Monogenic Diabetes v0.0 CAV1 Zornitza Stark gene: CAV1 was added
gene: CAV1 was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: CAV1 was set to Unknown
Publications for gene: CAV1 were set to 18211975
Phenotypes for gene: CAV1 were set to Lipodystrophy, congenital generalized, type 3, 612526; Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
Monogenic Diabetes v0.0 BSCL2 Zornitza Stark gene: BSCL2 was added
gene: BSCL2 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BSCL2 were set to 11479539
Phenotypes for gene: BSCL2 were set to Berardinelli-Seip congenital lipodystrophy
Monogenic Diabetes v0.0 BLK Zornitza Stark gene: BLK was added
gene: BLK was added to Monogenic diabetes. Sources: Illumina TruGenome Clinical Sequencing Services,Expert Review Red,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: BLK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BLK were set to Maturity-onset diabetes of the young, type 11, 613375; Maturity Onset Diabetes of the Young
Monogenic Diabetes v0.0 APPL1 Zornitza Stark gene: APPL1 was added
gene: APPL1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: APPL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: APPL1 were set to {Maturity-onset diabetes of the young, type 14}, 616511; Diabetes
Monogenic Diabetes v0.0 ALMS1 Zornitza Stark gene: ALMS1 was added
gene: ALMS1 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were set to Alstrom syndrome
Monogenic Diabetes v0.0 AKT2 Zornitza Stark gene: AKT2 was added
gene: AKT2 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AKT2 were set to 17576055; 15166380; 17327441
Phenotypes for gene: AKT2 were set to Diabetes mellitus, type II, 125853; Severe insulin resistance, partial lipodystrophy and diabetes
Monogenic Diabetes v0.0 AGPS Zornitza Stark gene: AGPS was added
gene: AGPS was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGPS were set to Lipodystrophy, congenital generalized, type 1, 608594
Monogenic Diabetes v0.0 AGPAT2 Zornitza Stark gene: AGPAT2 was added
gene: AGPAT2 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: AGPAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGPAT2 were set to PubMed PMID: 11967537, PubMed PMID: 12765973.
Phenotypes for gene: AGPAT2 were set to neonatal diabetes mellitus
Monogenic Diabetes v0.0 ABCC8 Zornitza Stark gene: ABCC8 was added
gene: ABCC8 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ABCC8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ABCC8 were set to DIABETES MELLITUS, NONINSULIN-DEPENDENT; Transient Neonatal Diabetes, Dominant; Diabetes mellitus, permanent neonatal, 6; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Diabetes mellitus, noninsulin-dependent, 125853; Permanent Neonatal Diabetes Mellitus; Permanent neonatal diabetes mellitus; transient neonatal diabetes (Dominant); Hypoglycemia of infancy, leucine-sensitive, 240800; Permanent Neonatal Diabetes Mellitus (recessive); Diabetes mellitus, transient neonatal 2, 610374; Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6
Mode of pathogenicity for gene: ABCC8 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic Diabetes v0.0 Zornitza Stark Added panel Monogenic diabetes