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Monogenic diabetes v2.3 Ivone Leong Panel version has been signed off
Monogenic diabetes v2.0 Ivone Leong promoted panel to version 2.0
Monogenic diabetes v1.38 ZBTB20 Ivone Leong Phenotypes for gene: ZBTB20 were changed from Primrose syndrome to Primrose syndrome, 259050; Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications)
Monogenic diabetes v1.37 TRMT10A Ivone Leong Phenotypes for gene: TRMT10A were changed from failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability to failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability; Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability; Microcephaly, short stature, and impaired glucose metabolism 1, 616033
Monogenic diabetes v1.36 SLC29A3 Ivone Leong Phenotypes for gene: SLC29A3 were changed from Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome to 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); Histiocytosis-lymphadenopathy plus syndrome,602782
Monogenic diabetes v1.35 RFX6 Ivone Leong Phenotypes for gene: RFX6 were changed from Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities; Mitchell-Riley syndrome to Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities; Mitchell-Riley syndrome, 615710; recessive syndromic diabetes and autosomal dominant MODY
Monogenic diabetes v1.34 PPP1R15B Ivone Leong Phenotypes for gene: PPP1R15B were changed from to Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability,616817
Monogenic diabetes v1.33 POLD1 Ivone Leong Phenotypes for gene: POLD1 were changed from Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381; multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381; multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome; multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381
Monogenic diabetes v1.32 PLIN1 Ivone Leong Phenotypes for gene: PLIN1 were changed from partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes; Lipodystrophy, familial partial, type 4, 613877 to partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes; Lipodystrophy, familial partial, type 4, 613877; Severe insulin resistance, partial lipodystrophy and diabetes
Monogenic diabetes v1.31 PIK3R1 Ivone Leong 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; SHORT syndrome to Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880; SHORT syndrome
Monogenic diabetes v1.30 PDX1 Ivone Leong Phenotypes for gene: PDX1 were changed from Pancreatic agenesis 1; MODY4; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4; Permanent neonatal diabetes; Maturity-onset diabetes of the young (MODY); MODY type IV to Pancreatic agenesis 1; MODY4; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4; Permanent neonatal diabetes; Maturity-onset diabetes of the young (MODY); MODY type IV; Recessive neonatal diabetes, pancreatic agenesis and dominant MODY, 606392
Monogenic diabetes v1.29 PCBD1 Ivone Leong Phenotypes for gene: PCBD1 were changed from Hyperphenylalaninemia, BH4-deficient, D to Hyperphenylalaninemia, BH4-deficient, D, 264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty)
Monogenic diabetes v1.28 PAX6 Ivone Leong Phenotypes for gene: PAX6 were changed from to Aniridia 106210; diabetes
Monogenic diabetes v1.27 MT-TL1 Ivone Leong Phenotypes for gene: MT-TL1 were changed from MIDD; DIABETES AND DEAFNESS, MATERNALLY INHERITED; Diabetes-Deafness Syndrome, Maternally Transmitted; MELAS syndrome to MIDD; DIABETES AND DEAFNESS, MATERNALLY INHERITED; Diabetes-Deafness Syndrome, Maternally Transmitted; MELAS syndrome; Maternally inherited diabetes
Monogenic diabetes v1.26 LMNA Ivone Leong Phenotypes for gene: LMNA were changed from FPLD2; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; Lipodystrophy, familial partial, 2, 151660; Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules to FPLD2; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; Lipodystrophy, familial partial, 2, 151660; Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules; Severe insulin resistance, partial lipodystrophy and diabetes
Monogenic diabetes v1.25 HNF4A Ivone Leong Phenotypes for gene: HNF4A were changed from {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1; MODY1; Maturity-onset diabetes of the young (MODY); MODY, type I, 125850; OMIM 616026; Maturity Onset Diabetes of the Young to {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young, Type 1; MODY1, 125850; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026
Monogenic diabetes v1.24 HNF4A Ivone Leong Phenotypes for gene: HNF4A were changed from {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1; MODY1; Maturity-onset diabetes of the young (MODY); MODY, type I, 125850; OMIM 616026; #616026; Maturity Onset Diabetes of the Young to {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1; MODY1; Maturity-onset diabetes of the young (MODY); MODY, type I, 125850; OMIM 616026; Maturity Onset Diabetes of the Young
Monogenic diabetes v1.23 GCK Ivone Leong Phenotypes for gene: GCK were changed from Transient Neonatal Diabetes, Recessive; MODY2; Diabetes mellitus, permanent neonatal, 606176; Maturity-Onset Diabetes Of The Young; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Diabetes mellitus, noninsulin-dependent, late onset, 125853; Permanent neonatal diabetes; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; Permanent Neonatal Diabetes Mellitus (recessive); Maturity-onset diabetes of the young (MODY); Permanent Neonatal Diabetes Mellitus; Maturity Onset Diabetes of the Young (Dominant); Diabetes mellitus, gestational, 125851; MODY, type II, 125851; Maturity Onset Diabetes of the Young to Transient Neonatal Diabetes, Recessive; MODY2; Diabetes mellitus, permanent neonatal, 606176; Maturity-Onset Diabetes Of The Young; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Diabetes mellitus, noninsulin-dependent, late onset, 125853; Permanent neonatal diabetes; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; Permanent Neonatal Diabetes Mellitus (recessive); Maturity-onset diabetes of the young (MODY); Permanent Neonatal Diabetes Mellitus; Maturity Onset Diabetes of the Young (Dominant); Diabetes mellitus, gestational, 125851; MODY, type II, 125851; Maturity Onset Diabetes of the Young; Neonatal diabetes; Fasting hyperglycaemia
Monogenic diabetes v1.22 GATA6 Ivone Leong Publications for gene: GATA6 were set to 22806356; 25706805; 23635550; 24433315; 24310933; 23639568; 22158542; 26210631; 22962692; 27098067; 25708516; Lango Allen et al 2011 Nat Genet 44, 20-22 De Franco et al 2013 Diabetes 62, 993-997; 25356219
Monogenic diabetes v1.21 GATA6 Ivone Leong Phenotypes for gene: GATA6 were changed from Pancreatic agenesis and congenital heart defects; PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS to Pancreatic agenesis and congenital heart defects; PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes)
Monogenic diabetes v1.20 GATA4 Ivone Leong Phenotypes for gene: GATA4 were changed from Neonatal diabetes, Pancreatic agenesis and/or congenital heart defects to Neonatal diabetes; Pancreatic agenesis and/or congenital heart defects; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes)
Monogenic diabetes v1.19 DNAJC3 Ivone Leong Phenotypes for gene: DNAJC3 were changed from ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192 to ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192; Autosomal recessive juvenile-onset diabetes with central and peripheral neurodegeneration
Monogenic diabetes v1.18 CEL Ivone Leong Phenotypes for gene: CEL were changed from Maturity-onset diabetes of the young, type VIII, 609812 to Maturity-onset diabetes of the young, type VIII, 609812; Diabetes and pancreatic exocrine dysfunction
Monogenic diabetes v1.17 APPL1 Ivone Leong Phenotypes for gene: APPL1 were changed from {Maturity-onset diabetes of the young, type 14}, 616511 to {Maturity-onset diabetes of the young, type 14}, 616511; Diabetes
Monogenic diabetes v1.16 DCAF17 Ivone Leong Phenotypes for gene: DCAF17 were changed from Woodhouse-Sakati syndrome, 241080 to Woodhouse-Sakati syndrome, 241080; Woodhouse-Sakati syndrome (hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness)
Monogenic diabetes v1.15 AKT2 Ivone Leong Phenotypes for gene: AKT2 were changed from Diabetes mellitus, type II, 125853 to Diabetes mellitus, type II, 125853; Severe insulin resistance, partial lipodystrophy and diabetes
Monogenic diabetes v1.14 DYRK1B Ivone Leong Phenotypes for gene: DYRK1B were changed from to Abdominal obesity-metabolic syndrome 3, 615812; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes)
Monogenic diabetes v1.13 DNAJC3 Ivone Leong Phenotypes for gene: DNAJC3 were changed from to ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192
Monogenic diabetes v1.12 DCAF17 Ivone Leong Phenotypes for gene: DCAF17 were changed from to Woodhouse-Sakati syndrome, 241080
Monogenic diabetes v1.11 APPL1 Ivone Leong Phenotypes for gene: APPL1 were changed from to {Maturity-onset diabetes of the young, type 14}, 616511
Monogenic diabetes v1.10 AKT2 Ivone Leong Phenotypes for gene: AKT2 were changed from Diabetes mellitus, type II to Diabetes mellitus, type II, 125853
Monogenic diabetes v1.9 Ivone Leong List of related panels changed from to R141
Panel types changed to GMS Rare Disease Virtual; GMS signed-off
Monogenic diabetes v1.7 DCAF17 Ivone Leong Publications for gene: DCAF17 were set to 20507343; 19026396
Monogenic diabetes v1.6 CEL Ivone Leong Publications for gene: CEL were set to 16369531
Monogenic diabetes v1.5 INSR Ivone Leong Publications for gene: INSR were set to PMID: 8288049
Monogenic diabetes v1.4 HNF4A Ivone Leong Publications for gene: HNF4A were set to
Monogenic diabetes v1.3 PLIN1 Ivone Leong Publications for gene: PLIN1 were set to 21345103; 30020498
Monogenic diabetes v1.1 ZBTB20 Jayne Houghton reviewed gene: ZBTB20: Rating: GREEN; Mode of pathogenicity: ; Publications: 25017102, 22374165; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v1.1 PLIN1 Jayne Houghton reviewed gene: PLIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21345103, 21345103, 21345103, 30020498, 11371650, 25695774; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v1.1 PCBD1 Jayne Houghton reviewed gene: PCBD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24848070, 24204001; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v1.1 DCAF17 Jayne Houghton reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: ; Publications: 24464444; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v1.1 CEL Jayne Houghton reviewed gene: CEL: Rating: GREEN; Mode of pathogenicity: ; Publications: 24062244, 21784842, 19760265, 18544793, 17989309, 16369531, 27650499, 25160620; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v1.0 Ivone Leong promoted panel to version 1.0
Monogenic diabetes v0.29 PPP1R15B Ivone Leong Mode of inheritance for gene: PPP1R15B was changed from to BIALLELIC, autosomal or pseudoautosomal
Monogenic diabetes v0.28 PAX6 Ivone Leong Mode of inheritance for gene: PAX6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Monogenic diabetes v0.27 DYRK1B Ivone Leong Mode of inheritance for gene: DYRK1B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Monogenic diabetes v0.26 DNAJC3 Ivone Leong Mode of inheritance for gene: DNAJC3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Monogenic diabetes v0.25 APPL1 Ivone Leong Mode of inheritance for gene: APPL1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Monogenic diabetes v0.24 PLIN1 Ivone Leong Classified gene: PLIN1 as Green List (high evidence)
Monogenic diabetes v0.24 PLIN1 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green as advised via email communication with Jane Houghton (South West GLH).
Monogenic diabetes v0.24 PLIN1 Ivone Leong Gene: plin1 has been classified as Green List (High Evidence).
Monogenic diabetes v0.23 PCBD1 Ivone Leong Classified gene: PCBD1 as Green List (high evidence)
Monogenic diabetes v0.23 PCBD1 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green as advised via email communication with Jane Houghton (South West GLH).
Monogenic diabetes v0.23 PCBD1 Ivone Leong Gene: pcbd1 has been classified as Green List (High Evidence).
Monogenic diabetes v0.22 ZBTB20 Ivone Leong Classified gene: ZBTB20 as Green List (high evidence)
Monogenic diabetes v0.22 ZBTB20 Ivone Leong Added comment: Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).
Monogenic diabetes v0.22 ZBTB20 Ivone Leong Gene: zbtb20 has been classified as Green List (High Evidence).
Monogenic diabetes v0.21 PPP1R15B Ivone Leong Classified gene: PPP1R15B as Green List (high evidence)
Monogenic diabetes v0.21 PPP1R15B Ivone Leong Added comment: Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).
Monogenic diabetes v0.21 PPP1R15B Ivone Leong Gene: ppp1r15b has been classified as Green List (High Evidence).
Monogenic diabetes v0.20 PAX6 Ivone Leong Classified gene: PAX6 as Green List (high evidence)
Monogenic diabetes v0.20 PAX6 Ivone Leong Added comment: Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).
Monogenic diabetes v0.20 PAX6 Ivone Leong Gene: pax6 has been classified as Green List (High Evidence).
Monogenic diabetes v0.19 DYRK1B Ivone Leong Classified gene: DYRK1B as Green List (high evidence)
Monogenic diabetes v0.19 DYRK1B Ivone Leong Added comment: Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).
Monogenic diabetes v0.19 DYRK1B Ivone Leong Gene: dyrk1b has been classified as Green List (High Evidence).
Monogenic diabetes v0.18 DNAJC3 Ivone Leong Classified gene: DNAJC3 as Green List (high evidence)
Monogenic diabetes v0.18 DNAJC3 Ivone Leong Added comment: Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).
Monogenic diabetes v0.18 DNAJC3 Ivone Leong Gene: dnajc3 has been classified as Green List (High Evidence).
Monogenic diabetes v0.17 DCAF17 Ivone Leong Classified gene: DCAF17 as Green List (high evidence)
Monogenic diabetes v0.17 DCAF17 Ivone Leong Added comment: Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).
Monogenic diabetes v0.17 DCAF17 Ivone Leong Gene: dcaf17 has been classified as Green List (High Evidence).
Monogenic diabetes v0.16 CEL Ivone Leong Classified gene: CEL as Green List (high evidence)
Monogenic diabetes v0.16 CEL Ivone Leong Added comment: Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).
Monogenic diabetes v0.16 CEL Ivone Leong Gene: cel has been classified as Green List (High Evidence).
Monogenic diabetes v0.15 APPL1 Ivone Leong Classified gene: APPL1 as Green List (high evidence)
Monogenic diabetes v0.15 APPL1 Ivone Leong Added comment: Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).
Monogenic diabetes v0.15 APPL1 Ivone Leong Gene: appl1 has been classified as Green List (High Evidence).
Monogenic diabetes v0.14 AKT2 Ivone Leong Classified gene: AKT2 as Green List (high evidence)
Monogenic diabetes v0.14 AKT2 Ivone Leong Added comment: Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).
Monogenic diabetes v0.14 AKT2 Ivone Leong Gene: akt2 has been classified as Green List (High Evidence).
Monogenic diabetes v0.13 ISCA-37432-Loss Ivone Leong Classified Region: ISCA-37432-Loss as No list
Monogenic diabetes v0.13 ISCA-37432-Loss Ivone Leong Region: isca-37432-loss has been removed from the panel.
Monogenic diabetes v0.12 ISCA-37432-Loss Ivone Leong commented on Region: ISCA-37432-Loss
Monogenic diabetes v0.12 WRN Ivone Leong Source Expert Review Removed was added to WRN.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 TFR2 Ivone Leong Source Expert Review Removed was added to TFR2.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 STAT3 Ivone Leong Source Expert Review Removed was added to STAT3.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 STAT1 Ivone Leong Source Expert Review Removed was added to STAT1.
Rating Changed from Red List (low evidence) to No List (delete)
Monogenic diabetes v0.12 SLC40A1 Ivone Leong Source Expert Review Removed was added to SLC40A1.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 SLC2A2 Ivone Leong Source Expert Review Removed was added to SLC2A2.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 SLC19A2 Ivone Leong Source Expert Review Removed was added to SLC19A2.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 PTF1A Ivone Leong Source Expert Review Removed was added to PTF1A.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 PSMB8 Ivone Leong Source Expert Review Removed was added to PSMB8.
Rating Changed from Red List (low evidence) to No List (delete)
Monogenic diabetes v0.12 PPP1R3A Ivone Leong Source Expert Review Removed was added to PPP1R3A.
Rating Changed from Red List (low evidence) to No List (delete)
Monogenic diabetes v0.12 POC1A Ivone Leong Source Expert Review Removed was added to POC1A.
Rating Changed from Red List (low evidence) to No List (delete)
Monogenic diabetes v0.12 PCYT1A Ivone Leong Source Expert Review Removed was added to PCYT1A.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 PCNT Ivone Leong Source Expert Review Removed was added to PCNT.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 PAX4 Ivone Leong Source Expert Review Removed was added to PAX4.
Rating Changed from Red List (low evidence) to No List (delete)
Monogenic diabetes v0.12 NSMCE2 Ivone Leong Source Expert Review Removed was added to NSMCE2.
Rating Changed from Red List (low evidence) to No List (delete)
Monogenic diabetes v0.12 NKX2-2 Ivone Leong Source Expert Review Removed was added to NKX2-2.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 NEUROG3 Ivone Leong Source Expert Review Removed was added to NEUROG3.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 MNX1 Ivone Leong Source Expert Review Removed was added to MNX1.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 LRBA Ivone Leong Source Expert Review Removed was added to LRBA.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 LIPC Ivone Leong Source Expert Review Removed was added to LIPC.
Rating Changed from Red List (low evidence) to No List (delete)
Monogenic diabetes v0.12 KLF11 Ivone Leong Source Expert Review Removed was added to KLF11.
Rating Changed from Red List (low evidence) to No List (delete)
Monogenic diabetes v0.12 IL2RA Ivone Leong Source Expert Review Removed was added to IL2RA.
Rating Changed from Red List (low evidence) to No List (delete)
Monogenic diabetes v0.12 IER3IP1 Ivone Leong Source Expert Review Removed was added to IER3IP1.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 HFE2 Ivone Leong Source Expert Review Removed was added to HFE2.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 HFE Ivone Leong Source Expert Review Removed was added to HFE.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 HAMP Ivone Leong Source Expert Review Removed was added to HAMP.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 GLIS3 Ivone Leong Source Expert Review Removed was added to GLIS3.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 FOXP3 Ivone Leong Source Expert Review Removed was added to FOXP3.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 FOXC2 Ivone Leong Source Expert Review Removed was added to FOXC2.
Rating Changed from Red List (low evidence) to No List (delete)
Monogenic diabetes v0.12 FGFR3 Ivone Leong Source Expert Review Removed was added to FGFR3.
Rating Changed from Red List (low evidence) to No List (delete)
Monogenic diabetes v0.12 EIF2AK3 Ivone Leong Source Expert Review Removed was added to EIF2AK3.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 ENPP1 Ivone Leong Source Expert Review Removed was added to ENPP1.
Rating Changed from Red List (low evidence) to No List (delete)
Monogenic diabetes v0.12 DMXL2 Ivone Leong Source Expert Review Removed was added to DMXL2.
Rating Changed from Amber List (moderate evidence) to No List (delete)
Monogenic diabetes v0.12 CAVIN1 Ivone Leong Source Expert Review Removed was added to CAVIN1.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 BSCL2 Ivone Leong Source Expert Review Removed was added to BSCL2.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 BLM Ivone Leong Source Expert Review Removed was added to BLM.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 BLK Ivone Leong Source Expert Review Removed was added to BLK.
Rating Changed from Red List (low evidence) to No List (delete)
Monogenic diabetes v0.12 ALMS1 Ivone Leong Source Expert Review Removed was added to ALMS1.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.12 AGPAT2 Ivone Leong Source Expert Review Removed was added to AGPAT2.
Rating Changed from Green List (high evidence) to No List (delete)
Monogenic diabetes v0.11 WRN Ivone Leong reviewed gene: WRN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 TFR2 Ivone Leong reviewed gene: TFR2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 STAT3 Ivone Leong reviewed gene: STAT3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 STAT1 Ivone Leong reviewed gene: STAT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 SLC40A1 Ivone Leong reviewed gene: SLC40A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 SLC2A2 Ivone Leong reviewed gene: SLC2A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 SLC19A2 Ivone Leong reviewed gene: SLC19A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 PTF1A Ivone Leong reviewed gene: PTF1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 PSMB8 Ivone Leong reviewed gene: PSMB8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 PPP1R3A Ivone Leong reviewed gene: PPP1R3A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 POC1A Ivone Leong reviewed gene: POC1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 PCYT1A Ivone Leong reviewed gene: PCYT1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 PCNT Ivone Leong reviewed gene: PCNT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 PAX4 Ivone Leong reviewed gene: PAX4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 NSMCE2 Ivone Leong reviewed gene: NSMCE2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 NKX2-2 Ivone Leong reviewed gene: NKX2-2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 NEUROG3 Ivone Leong reviewed gene: NEUROG3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 MNX1 Ivone Leong reviewed gene: MNX1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 LRBA Ivone Leong reviewed gene: LRBA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 LIPC Ivone Leong reviewed gene: LIPC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 KLF11 Ivone Leong reviewed gene: KLF11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 IL2RA Ivone Leong reviewed gene: IL2RA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 IER3IP1 Ivone Leong reviewed gene: IER3IP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 HFE2 Ivone Leong reviewed gene: HFE2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 HFE Ivone Leong reviewed gene: HFE: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 HAMP Ivone Leong reviewed gene: HAMP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 GLIS3 Ivone Leong reviewed gene: GLIS3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 FOXP3 Ivone Leong reviewed gene: FOXP3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 FOXC2 Ivone Leong reviewed gene: FOXC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 FGFR3 Ivone Leong reviewed gene: FGFR3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 EIF2AK3 Ivone Leong reviewed gene: EIF2AK3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 ENPP1 Ivone Leong reviewed gene: ENPP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 DMXL2 Ivone Leong reviewed gene: DMXL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 CAVIN1 Ivone Leong reviewed gene: CAVIN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.11 BSCL2 Ivone Leong reviewed gene: BSCL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.10 BLM Ivone Leong commented on gene: BLM
Monogenic diabetes v0.10 BLK Ivone Leong commented on gene: BLK
Monogenic diabetes v0.10 ALMS1 Ivone Leong commented on gene: ALMS1
Monogenic diabetes v0.10 AGPAT2 Ivone Leong commented on gene: AGPAT2
Monogenic diabetes v0.10 CISD2 Ivone Leong Phenotypes for gene: CISD2 were changed from 604928; Wolfram syndrome 2 to Wolfram syndrome 2604928
Monogenic diabetes v0.8 ZFP57 Ivone Leong reviewed gene: ZFP57: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 ZBTB20 Ivone Leong reviewed gene: ZBTB20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 WFS1 Ivone Leong reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 TRMT10A Ivone Leong reviewed gene: TRMT10A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 SLC29A3 Ivone Leong reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 RFX6 Ivone Leong reviewed gene: RFX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 PPP1R15B Ivone Leong reviewed gene: PPP1R15B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 PPARG Ivone Leong reviewed gene: PPARG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 POLD1 Ivone Leong reviewed gene: POLD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 PLIN1 Ivone Leong reviewed gene: PLIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 PIK3R1 Ivone Leong reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 PDX1 Ivone Leong reviewed gene: PDX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 PCBD1 Ivone Leong reviewed gene: PCBD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 PAX6 Ivone Leong reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 NEUROD1 Ivone Leong reviewed gene: NEUROD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 MT-TL1 Ivone Leong reviewed gene: MT-TL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 LMNA Ivone Leong reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 KCNJ11 Ivone Leong reviewed gene: KCNJ11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 INSR Ivone Leong reviewed gene: INSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 INS Ivone Leong reviewed gene: INS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 HNF4A Ivone Leong reviewed gene: HNF4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 HNF1B Ivone Leong reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 HNF1A Ivone Leong reviewed gene: HNF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 GCK Ivone Leong reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 GATA6 Ivone Leong reviewed gene: GATA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 GATA4 Ivone Leong reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 DYRK1B Ivone Leong reviewed gene: DYRK1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 DNAJC3 Ivone Leong reviewed gene: DNAJC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 DCAF17 Ivone Leong reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 CISD2 Ivone Leong reviewed gene: CISD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 CEL Ivone Leong reviewed gene: CEL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 APPL1 Ivone Leong reviewed gene: APPL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 AKT2 Ivone Leong reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 ABCC8 Ivone Leong reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.7 ZFP57 Ivone Leong Source NHS GMS was added to ZFP57.
Monogenic diabetes v0.7 ZBTB20 Ivone Leong Source NHS GMS was added to ZBTB20.
Monogenic diabetes v0.7 WFS1 Ivone Leong Source NHS GMS was added to WFS1.
Monogenic diabetes v0.7 TRMT10A Ivone Leong Source NHS GMS was added to TRMT10A.
Monogenic diabetes v0.7 SLC29A3 Ivone Leong Source NHS GMS was added to SLC29A3.
Monogenic diabetes v0.7 RFX6 Ivone Leong Source NHS GMS was added to RFX6.
Monogenic diabetes v0.7 PPP1R15B Ivone Leong gene: PPP1R15B was added
gene: PPP1R15B was added to Monogenic diabetes. Sources: NHS GMS
Mode of inheritance for gene: PPP1R15B was set to
Monogenic diabetes v0.7 PPARG Ivone Leong Source NHS GMS was added to PPARG.
Monogenic diabetes v0.7 POLD1 Ivone Leong Source NHS GMS was added to POLD1.
Monogenic diabetes v0.7 PLIN1 Ivone Leong Source NHS GMS was added to PLIN1.
Monogenic diabetes v0.7 PIK3R1 Ivone Leong Source NHS GMS was added to PIK3R1.
Monogenic diabetes v0.7 PDX1 Ivone Leong Source NHS GMS was added to PDX1.
Monogenic diabetes v0.7 PCBD1 Ivone Leong Source NHS GMS was added to PCBD1.
Monogenic diabetes v0.7 PAX6 Ivone Leong gene: PAX6 was added
gene: PAX6 was added to Monogenic diabetes. Sources: NHS GMS
Mode of inheritance for gene: PAX6 was set to
Monogenic diabetes v0.7 NEUROD1 Ivone Leong Source NHS GMS was added to NEUROD1.
Monogenic diabetes v0.7 MT-TL1 Ivone Leong Source NHS GMS was added to MT-TL1.
Monogenic diabetes v0.7 LMNA Ivone Leong Source NHS GMS was added to LMNA.
Monogenic diabetes v0.7 KCNJ11 Ivone Leong Source NHS GMS was added to KCNJ11.
Monogenic diabetes v0.7 INSR Ivone Leong Source NHS GMS was added to INSR.
Monogenic diabetes v0.7 INS Ivone Leong Source NHS GMS was added to INS.
Monogenic diabetes v0.7 HNF4A Ivone Leong Source NHS GMS was added to HNF4A.
Monogenic diabetes v0.7 HNF1B Ivone Leong Source NHS GMS was added to HNF1B.
Monogenic diabetes v0.7 HNF1A Ivone Leong Source NHS GMS was added to HNF1A.
Monogenic diabetes v0.7 GCK Ivone Leong Source NHS GMS was added to GCK.
Monogenic diabetes v0.7 GATA6 Ivone Leong Source NHS GMS was added to GATA6.
Monogenic diabetes v0.7 GATA4 Ivone Leong Source NHS GMS was added to GATA4.
Monogenic diabetes v0.7 DYRK1B Ivone Leong gene: DYRK1B was added
gene: DYRK1B was added to Monogenic diabetes. Sources: NHS GMS
Mode of inheritance for gene: DYRK1B was set to
Monogenic diabetes v0.7 DNAJC3 Ivone Leong gene: DNAJC3 was added
gene: DNAJC3 was added to Monogenic diabetes. Sources: NHS GMS
Mode of inheritance for gene: DNAJC3 was set to
Monogenic diabetes v0.7 DCAF17 Ivone Leong Source NHS GMS was added to DCAF17.
Monogenic diabetes v0.7 CISD2 Ivone Leong Source NHS GMS was added to CISD2.
Monogenic diabetes v0.7 CEL Ivone Leong Source NHS GMS was added to CEL.
Monogenic diabetes v0.7 APPL1 Ivone Leong gene: APPL1 was added
gene: APPL1 was added to Monogenic diabetes. Sources: NHS GMS
Mode of inheritance for gene: APPL1 was set to
Monogenic diabetes v0.7 AKT2 Ivone Leong Source NHS GMS was added to AKT2.
Monogenic diabetes v0.7 ABCC8 Ivone Leong Source NHS GMS was added to ABCC8.
Monogenic diabetes v0.6 PLIN1 Louise Daugherty Publications for gene: PLIN1 were set to 21345103
Monogenic diabetes v0.5 PLIN1 Louise Daugherty Classified gene: PLIN1 as Amber List (moderate evidence)
Monogenic diabetes v0.5 PLIN1 Louise Daugherty Added comment: Comment on list classification: This gene was downgraded from Green to Amber due to the findings of PMID: 30020498 - variants in this gene predicted to cause haplosufficiency are not a cause of familial partial lipodystrophy.
Monogenic diabetes v0.5 PLIN1 Louise Daugherty Gene: plin1 has been classified as Amber List (Moderate Evidence).
Monogenic diabetes v0.4 HFE2 Sarah Leigh Tag new-gene-name tag was added to gene: HFE2.
Monogenic diabetes v0.4 HFE2 Sarah Leigh commented on gene: HFE2
Monogenic diabetes v0.2 NSMCE2 Ellen McDonagh gene: NSMCE2 was added
gene: NSMCE2 was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: NSMCE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSMCE2 were set to 25105364
Phenotypes for gene: NSMCE2 were set to Dwarfism with extreme insulin resistance and acanthosis nigricans
Monogenic diabetes v0.2 FOXP3 Ellen McDonagh Added phenotypes {Diabetes mellitus, type I, susceptibility to}, 222100; Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790; IPEX syndrome for gene: FOXP3
Monogenic diabetes v0.2 FOXP3 Ellen McDonagh gene: FOXP3 was added
gene: FOXP3 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Monogenic diabetes v0.2 STAT3 Ellen McDonagh Added phenotypes Neonatal diabetes and additional multi-organ autoimmunity for gene: STAT3
Publications for gene STAT3 were changed from 27167055 to 27167055; Flanagan et al 2014 Nature Genetics (In press)
Monogenic diabetes v0.2 STAT3 Ellen McDonagh gene: STAT3 was added
gene: STAT3 was added to Monogenic diabetes. Sources: 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 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 v0.2 SLC40A1 Ellen McDonagh gene: SLC40A1 was added
gene: SLC40A1 was added to Monogenic diabetes. Sources: 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 v0.2 POLD1 Ellen McDonagh Added phenotypes multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome for gene: POLD1
Publications for gene POLD1 were changed from 25131834; 26172944; 23770608 to 23770608
Monogenic diabetes v0.2 POLD1 Ellen McDonagh Added phenotypes Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 for gene: POLD1
Publications for gene POLD1 were changed from 23770608 to 25131834; 26172944; 23770608
Monogenic diabetes v0.2 POLD1 Ellen McDonagh gene: POLD1 was added
gene: POLD1 was added to Monogenic diabetes. Sources: Expert Review Green
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 multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
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 v0.2 PLIN1 Ellen McDonagh Added phenotypes partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes for gene: PLIN1
Monogenic diabetes v0.2 PLIN1 Ellen McDonagh Added phenotypes partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes for gene: PLIN1
Publications for gene PLIN1 were changed from 21345103; 25114292 to 21345103
Monogenic diabetes v0.2 PLIN1 Ellen McDonagh gene: PLIN1 was added
gene: PLIN1 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: PLIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLIN1 were set to 21345103; 25114292
Phenotypes for gene: PLIN1 were set to Lipodystrophy, familial partial, type 4, 613877
Monogenic diabetes v0.2 PIK3R1 Ellen McDonagh Added phenotypes Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome for gene: PIK3R1
Monogenic diabetes v0.2 PIK3R1 Ellen McDonagh Added phenotypes Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome for gene: PIK3R1
Publications for gene PIK3R1 were changed from 23810379; 23810382; 23810378 to 23810378
Monogenic diabetes v0.2 LMNA Ellen McDonagh Added phenotypes FPLD2; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules for gene: LMNA
Publications for gene LMNA were changed from to 26775134; 24002959
Monogenic diabetes v0.2 LMNA Ellen McDonagh gene: LMNA was added
gene: LMNA was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LMNA were set to Lipodystrophy, familial partial, 2, 151660
Monogenic diabetes v0.2 KCNJ11 Ellen McDonagh Added phenotypes Transient Neonatal diabetes mellitus (Dominant); Transient Neonatal, 3; Diabetes Mellitus, Transient Neonatal, 3; Transient Neonatal Diabetes, Dominant; Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive); Diabetes, permanent neonatal, 606176; Diabetes mellitus, permanent neonatal, with neurologic features, 606176; Maturity Onset Diabetes of the Young; Hyperinsulinemic hypoglycemia, familial, 2, 601820; {Diabetes mellitus, type 2, susceptibility to}, 125853; Maturity Onset Diabetes of the Young (Dominant); Diabetes Mellitus, Permanent Neonatal; Diabetes mellitus, trans; Diabetes mellitus, transient neonatal, 3, 610582 for gene: KCNJ11
Monogenic diabetes v0.2 KCNJ11 Ellen McDonagh gene: KCNJ11 was added
gene: KCNJ11 was added to Monogenic diabetes. Sources: Expert Review Green
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; Maturity Onset Diabetes of the Young
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 v0.2 HNF4A Ellen McDonagh Added phenotypes MODY, type I, 125850; OMIM 616026; Maturity Onset Diabetes of the Young for gene: HNF4A
Monogenic diabetes v0.2 HNF4A Ellen McDonagh gene: HNF4A was added
gene: HNF4A was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF4A were set to {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1; MODY1; Maturity-onset diabetes of the young (MODY); MODY, type I, 125850; #616026; Maturity Onset Diabetes of the Young
Monogenic diabetes v0.2 HNF1B Ellen McDonagh Added phenotypes Transient neonatal diabetes; Renal Cysts and Diabetes Syndrome; Diabetes mellitus, noninsulin-dependent, 125853; Maturity-Onset Diabetes Of The Young; RCAD; renal malformation; {Renal cell carcinoma}, 144700; Renal cysts and diabetes syndrome, 137920; RENAL CYSTS AND DIABETES SYNDROME for gene: HNF1B
Monogenic diabetes v0.2 HNF1B Ellen McDonagh gene: HNF1B was added
gene: HNF1B was added to Monogenic diabetes. Sources: Expert Review Green
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, 137920
Monogenic diabetes v0.2 HNF1A Ellen McDonagh Added phenotypes Hepatic adenoma, somatic, 142330; Maturity-Onset Diabetes Of The Young; {Diabetes mellitus, insulin-dependent}, 222100; Renal cell carcinoma, 144700; Diabetes mellitus, insulin-dependent, 20, 612520; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3; MODY3; Maturity-onset diabetes of the young (MODY); {Diabetes mellitus, noninsulin-dependent, 2}, 125853; MODY, type III, 600496; Maturity Onset Diabetes of the Young for gene: HNF1A
Monogenic diabetes v0.2 HNF1A Ellen McDonagh gene: HNF1A was added
gene: HNF1A was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF1A were set to 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; Maturity Onset Diabetes of the Young
Monogenic diabetes v0.2 PPARG Ellen McDonagh Added phenotypes Insulin resistance, severe, digenic; Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension; Lipodystrophy, familial partial, type 3 for gene: PPARG
Monogenic diabetes v0.2 PPARG Ellen McDonagh Added phenotypes Insulin resistance, severe, digenic 604367; Lipodystrophy, familial partial, type 3 604367 for gene: PPARG
Monogenic diabetes v0.2 PPARG Ellen McDonagh gene: PPARG was added
gene: PPARG was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: PPARG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPARG were set to Lipodystrophy, familial partial, type 3, 604367; FPLD3; {Diabetes, type 2}, 125853; Obesity, severe, 601665; Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension; Insulin resistance, severe, digenic, 604367; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; [Obesity, resistance to]; Carotid intimal medial thickness 1, 609338
Monogenic diabetes v0.2 GATA6 Ellen McDonagh Added phenotypes Pancreatic agenesis and congenital heart defects; PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS for gene: GATA6
Publications for gene GATA6 were changed from 22806356; 25706805; 23635550; 24433315; 24310933; 23639568; PMID: 27098067; 22158542; 26210631; 22962692; 25708516; 25356219 to 22806356; 25706805; 23635550; 24433315; 24310933; 23639568; 22158542; 26210631; 22962692; 27098067; 25708516; Lango Allen et al 2011 Nat Genet 44, 20-22 De Franco et al 2013 Diabetes 62, 993-997; 25356219
Monogenic diabetes v0.2 GATA6 Ellen McDonagh gene: GATA6 was added
gene: GATA6 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GATA6 were set to 22806356; 25706805; 23635550; 24433315; 24310933; 23639568; PMID: 27098067; 22158542; 26210631; 22962692; 25708516; 25356219
Monogenic diabetes v0.2 GATA4 Ellen McDonagh Added phenotypes Neonatal diabetes, Pancreatic agenesis and/or congenital heart defects for gene: GATA4
Publications for gene GATA4 were changed from PMID: 24696446 to 24696446
Monogenic diabetes v0.2 GATA4 Ellen McDonagh gene: GATA4 was added
gene: GATA4 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GATA4 were set to PMID: 24696446
Monogenic diabetes v0.2 MT-TL1 Ellen McDonagh Added phenotypes MIDD; DIABETES AND DEAFNESS, MATERNALLY INHERITED; Diabetes-Deafness Syndrome, Maternally Transmitted; MELAS syndrome for gene: MT-TL1
Monogenic diabetes v0.2 MT-TL1 Ellen McDonagh gene: MT-TL1 was added
gene: MT-TL1 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-TL1 were set to MELAS syndrome
Monogenic diabetes v0.2 WFS1 Ellen McDonagh Added phenotypes diabetes insipidus or optic atrophy; Wolfram-like syndrome, autosomal dominant, 614296; Deafness, autosomal dominant 6/14/38, 600965; {Diabetes mellitus, noninsulin-dependent,association with}; Deafness,autosomal dominant 6/14/38, 600965; Wolfram syndrome, 222300; {Diabetes mellitus, noninsulin-dependent, association with}, 125853; ?Cataract 41,116400 for gene: WFS1
Monogenic diabetes v0.2 WFS1 Ellen McDonagh gene: WFS1 was added
gene: WFS1 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: WFS1 were set to 27217304; 27185633
Phenotypes for gene: WFS1 were set to Wolfram syndrome, 222300
Monogenic diabetes v0.2 NEUROD1 Ellen McDonagh Added phenotypes {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity Onset Diabetes of the Young for gene: NEUROD1
Monogenic diabetes v0.2 NEUROD1 Ellen McDonagh gene: NEUROD1 was added
gene: NEUROD1 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: NEUROD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NEUROD1 were set to 26773576; 10545951; 26669242; 20573748
Phenotypes for gene: NEUROD1 were set to Maturity-onset diabetes of the young 6, 606394; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young; MODY6; Permanent neonatal diabetes and cerebellar agenesis; Maturity Onset Diabetes of the Young
Monogenic diabetes v0.2 INSR Ellen McDonagh Added phenotypes Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Leprechaunism, 246200; Rabson-Mendenhall syndrome, 262190 for gene: INSR
Monogenic diabetes v0.2 INSR Ellen McDonagh Added phenotypes Diabetes mellitus, insulin-resistant, with acanthosis nigricans; OMIM 610549 for gene: INSR
Publications for gene INSR were changed from 8288049 to PMID: 8288049
Monogenic diabetes v0.2 INSR Ellen McDonagh gene: INSR was added
gene: INSR was added to Monogenic diabetes. Sources: Expert Review Green
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 Leprechaunism, 246200; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Rabson-Mendenhall syndrome, 262190; Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans; OMIM 610549; Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities; Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans; Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities; Diabetes mellitus, insulin-resistant, with acanthosis nigricans; Hyperinsulinemic hypoglycemia, familial, 5, 609968; DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS
Monogenic diabetes v0.2 INS Ellen McDonagh Added phenotypes Transient Neonatal Diabetes, Dominant/Recessive; Hyperproinsulinemia, familial, with or without diabetes; Maturity Onset Diabetes of the Young (Dominant); Maturity Onset Diabetes of the Young for gene: INS
Monogenic diabetes v0.2 INS Ellen McDonagh gene: INS was added
gene: INS was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: INS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: INS were set to MODY10; Maturity-onset diabetes of the young, type 10, 613370; Transient Neonatal Diabetes, Dominant/Recessive; Diabetes mellitus, insulin-dependent, 2, 125852; Permanent Neonatal diabetes mellitus; Diabetes mellitus, type 1, 125852; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; Diabetes mellitus, permanent neonatal, 606176; Hyperproinsulinemia, familial, with or without diabetes; Maturity Onset Diabetes of the Young
Monogenic diabetes v0.2 ABCC8 Ellen McDonagh Added phenotypes Diabetes mellitus, permanent neonatal, 6; Transient Neonatal Diabetes, Dominant; transient neonatal diabetes (Dominant); Diabetes mellitus, noninsulin-dependent, 125853; DIABETES MELLITUS, NONINSULIN-DEPENDENT; Diabetes mellitus, transient neonatal 2, 610374; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Hypoglycemia of infancy, leucine-sensitive, 240800; Permanent neonatal diabetes mellitus; Permanent Neonatal Diabetes Mellitus for gene: ABCC8
Monogenic diabetes v0.2 ABCC8 Ellen McDonagh gene: ABCC8 was added
gene: ABCC8 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: ABCC8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6; Transient Neonatal Diabetes, Dominant; Permanent Neonatal Diabetes Mellitus; Permanent Neonatal Diabetes Mellitus (recessive)
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 v0.2 GCK Ellen McDonagh Added phenotypes Transient Neonatal Diabetes, Recessive; MODY2; Maturity-Onset Diabetes Of The Young; Diabetes mellitus, noninsulin-dependent, late onset, 125853; Maturity-onset diabetes of the young (MODY); Permanent neonatal diabetes; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; Diabetes mellitus, permanent neonatal, 606176; Permanent Neonatal Diabetes Mellitus; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Diabetes mellitus, gestational, 125851; MODY, type II, 125851; Maturity Onset Diabetes of the Young for gene: GCK
Monogenic diabetes v0.2 GCK Ellen McDonagh gene: GCK was added
gene: GCK was added to Monogenic diabetes. Sources: Expert Review Green
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 Transient Neonatal Diabetes, Recessive; Permanent Neonatal Diabetes Mellitus (recessive); Maturity-onset diabetes of the young (MODY); Maturity Onset Diabetes of the Young (Dominant); MODY, type II, 125851; Maturity Onset Diabetes of the Young
Monogenic diabetes v0.2 ZMPSTE24 Ellen McDonagh 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 18435794; 16297189; 20034068; 12913070; 15317753
Phenotypes for gene: ZMPSTE24 were set to Mandibuloacral dysplasia with type B lipodystrophy, 608612
Monogenic diabetes v0.2 ZFP57 Ellen McDonagh Added phenotypes Transient Neonatal Diabetes, Recessive; Diabetes mellitus, transient neonatal, 1, 601410 for gene: ZFP57
Monogenic diabetes v0.2 ZFP57 Ellen McDonagh gene: ZFP57 was added
gene: ZFP57 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: ZFP57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFP57 were set to Transient Neonatal Diabetes, Recessive; Diabetes mellitus, transient neonatal, 1, 601410; Transient Neonatal Diabetes
Monogenic diabetes v0.2 TRMT10A Ellen McDonagh Added phenotypes failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability for gene: TRMT10A
Monogenic diabetes v0.2 TRMT10A Ellen McDonagh gene: TRMT10A was added
gene: TRMT10A was added to Monogenic diabetes. Sources: Expert Review Green
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 failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability
Monogenic diabetes v0.2 TFR2 Ellen McDonagh gene: TFR2 was added
gene: TFR2 was added to Monogenic diabetes. Sources: 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 v0.2 SLC2A2 Ellen McDonagh Added phenotypes {Diabetes mellitus, noninsulin-dependent}; Fanconi-Bickel syndrome for gene: SLC2A2
Publications for gene SLC2A2 were changed from 22831748; 23456528; 22660720 to 22831748; PMID: 23456528; 22660720
Monogenic diabetes v0.2 SLC2A2 Ellen McDonagh gene: SLC2A2 was added
gene: SLC2A2 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC2A2 were set to 22831748; 23456528; 22660720
Phenotypes for gene: SLC2A2 were set to {Diabetes mellitus, noninsulin-dependent}; Fanconi-Bickel syndrome; Fanconi-Bickel syndrome, 227810
Monogenic diabetes v0.2 SLC29A3 Ellen McDonagh Added phenotypes Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome for gene: SLC29A3
Monogenic diabetes v0.2 SLC29A3 Ellen McDonagh gene: SLC29A3 was added
gene: SLC29A3 was added to Monogenic diabetes. Sources: Expert Review Green
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 Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome
Monogenic diabetes v0.2 SLC19A2 Ellen McDonagh Added phenotypes Thiamine-responsive megaloblastic anemia syndrome; MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS ROGERS SYNDROME for gene: SLC19A2
Publications for gene SLC19A2 were changed from Shaw-Smith et al 2012 Pediatr Diabetes 13:314-321; 26839896; 26549656 to 26549656; 26839896
Monogenic diabetes v0.2 SLC19A2 Ellen McDonagh gene: SLC19A2 was added
gene: SLC19A2 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC19A2 were set to Shaw-Smith et al 2012 Pediatr Diabetes 13:314-321; 26839896; 26549656
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 v0.2 RFX6 Ellen McDonagh Added phenotypes Mitchell-Riley syndrome for gene: RFX6
Publications for gene RFX6 were changed from Spiegal et al 2011 AM J Med Genet 155:2821-2825; 25048417; 26770845; 26761945; 27185633; 26559129; 26264437; Smith et al 2010 Nature 463:775-780; 27167055 to 25048417; 26770845; 26761945; 27185633; 26559129; 26264437; 27167055
Monogenic diabetes v0.2 RFX6 Ellen McDonagh gene: RFX6 was added
gene: RFX6 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFX6 were set to Spiegal et al 2011 AM J Med Genet 155:2821-2825; 25048417; 26770845; 26761945; 27185633; 26559129; 26264437; Smith et al 2010 Nature 463:775-780; 27167055
Phenotypes for gene: RFX6 were set to Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities; Mitchell-Riley syndrome
Monogenic diabetes v0.2 PTF1A Ellen McDonagh Added phenotypes Permanent neonatal diabetes mellitus (PNDM); Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069 for gene: PTF1A
Monogenic diabetes v0.2 PTF1A Ellen McDonagh gene: PTF1A was added
gene: PTF1A was added to Monogenic diabetes. Sources: Expert Review Green
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); Permanent neonatal diabetes with cerebellar agenesis; Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069
Monogenic diabetes v0.2 PDX1 Ellen McDonagh Added phenotypes Pancreatic agenesis 1 for gene: PDX1
Monogenic diabetes v0.2 NKX2-2 Ellen McDonagh gene: NKX2-2 was added
gene: NKX2-2 was added to Monogenic diabetes. Sources: 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 v0.2 NEUROG3 Ellen McDonagh Added phenotypes Permanent neonatal diabetes and enteric anendocrinosis for gene: NEUROG3
Publications for gene NEUROG3 were changed from 26288179; 25650326 to 26288179; 25650326; Rubio-Cabezas et al 2011 Diabetes 60:1349-1353
Monogenic diabetes v0.2 NEUROG3 Ellen McDonagh gene: NEUROG3 was added
gene: NEUROG3 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: NEUROG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEUROG3 were set to 26288179; 25650326
Monogenic diabetes v0.2 MNX1 Ellen McDonagh Publications for gene MNX1 were changed from 24411943; Flanagan et al 2014 Cell Metab 19:146-154; 23562494; 26534984 to 24411943; 23562494; 26534984
Monogenic diabetes v0.2 MNX1 Ellen McDonagh gene: MNX1 was added
gene: MNX1 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: MNX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MNX1 were set to 24411943; Flanagan et al 2014 Cell Metab 19:146-154; 23562494; 26534984
Monogenic diabetes v0.2 LRBA Ellen McDonagh Added phenotypes Immunodeficiency, common variable, 8, with autoimmunity for gene: LRBA
Monogenic diabetes v0.2 LRBA Ellen McDonagh gene: LRBA was added
gene: LRBA was added to Monogenic diabetes. Sources: 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; 26745254; 26206937; 27057999
Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity
Monogenic diabetes v0.2 IER3IP1 Ellen McDonagh Added phenotypes Microcephaly, epilepsy, and diabetes syndrome for gene: IER3IP1
Publications for gene IER3IP1 were changed from 21835305, 22991235, 24138066 to 21835305; 24138066; 22991235
Monogenic diabetes v0.2 HFE2 Ellen McDonagh gene: HFE2 was added
gene: HFE2 was added to Monogenic diabetes. Sources: 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 v0.2 HFE Ellen McDonagh gene: HFE was added
gene: HFE was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFE were set to {Alzheimer disease, susceptibility to}, 104300; Hemochromatosis, 235200; {Microvascular complications of diabetes 7}, 612635; {Porphyria variegata, susceptibility to}, 176200; {Porphyria cutanea tarda, susceptibility to}, 176100
Monogenic diabetes v0.2 HAMP Ellen McDonagh gene: HAMP was added
gene: HAMP was added to Monogenic diabetes. Sources: 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 v0.2 GLIS3 Ellen McDonagh Added phenotypes Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism; Neonatal Diabetes mellitus with congenital hypothyroidism; Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism; Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 -3 for gene: GLIS3
Monogenic diabetes v0.2 GLIS3 Ellen McDonagh gene: GLIS3 was added
gene: GLIS3 was added to Monogenic diabetes. Sources: 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 v0.2 EIF2AK3 Ellen McDonagh Added phenotypes Wolcott-Rallison syndrome; Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus for gene: EIF2AK3
Monogenic diabetes v0.2 EIF2AK3 Ellen McDonagh gene: EIF2AK3 was added
gene: EIF2AK3 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome; Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus
Monogenic diabetes v0.2 CISD2 Ellen McDonagh gene: CISD2 was added
gene: CISD2 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CISD2 were set to 17846994; 25056293
Phenotypes for gene: CISD2 were set to 604928; Wolfram syndrome 2
Monogenic diabetes v0.2 CAVIN1 Ellen McDonagh gene: CAVIN1 was added
gene: CAVIN1 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAVIN1 were set to 19726876
Phenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4, 613327
Monogenic diabetes v0.2 BSCL2 Ellen McDonagh Added phenotypes Lipodystrophy, congenital generalized, type 2, 269700 for gene: BSCL2
Monogenic diabetes v0.2 BSCL2 Ellen McDonagh Added phenotypes Berardinelli-Seip congenital lipodystrophy for gene: BSCL2
Monogenic diabetes v0.2 BSCL2 Ellen McDonagh gene: BSCL2 was added
gene: BSCL2 was added to Monogenic diabetes. Sources: 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 v0.2 ALMS1 Ellen McDonagh Added phenotypes Alstrom syndrome for gene: ALMS1
Monogenic diabetes v0.2 AGPAT2 Ellen McDonagh Publications for gene AGPAT2 were changed from 11967537; 12765973 to PubMed PMID: 11967537, PubMed PMID: 12765973.
Monogenic diabetes v0.2 AGPAT2 Ellen McDonagh Added phenotypes lipodystrophy for gene: AGPAT2
Publications for gene AGPAT2 were changed from to 11967537; 12765973
Monogenic diabetes v0.2 AGPAT2 Ellen McDonagh gene: AGPAT2 was added
gene: AGPAT2 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: AGPAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGPAT2 were set to Lipodystrophy, congenital generalized, type 1, 608594
Monogenic diabetes v0.2 LIPC Ellen McDonagh gene: LIPC was added
gene: LIPC was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: LIPC was set to Unknown
Phenotypes for gene: LIPC were set to Hepatic lipase deficiency, 614025; [High density lipoprotein cholesterol level QTL 12], 612797; {Diabetes mellitus, noninsulin-dependent}, 125853
Monogenic diabetes v0.2 FOXC2 Ellen McDonagh gene: FOXC2 was added
gene: FOXC2 was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: FOXC2 was set to Unknown
Phenotypes for gene: FOXC2 were set to Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400; Lymphedema-distichiasis syndrome, 153400
Monogenic diabetes v0.2 ENPP1 Ellen McDonagh gene: ENPP1 was added
gene: ENPP1 was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: ENPP1 was set to Unknown
Phenotypes for gene: ENPP1 were set to Ossification of posterior longitudinal ligament of spine, 602475{Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853{Obesity, susceptibility to}, 601665Arterial calcification, generalized, of infancy, 1, 208000Hypophos
Monogenic diabetes v0.2 ZBTB20 Ellen McDonagh Mode of inheritance for gene ZBTB20 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene ZBTB20 were changed from to 25017102; 20644156
Monogenic diabetes v0.2 STAT1 Ellen McDonagh gene: STAT1 was added
gene: STAT1 was added to Monogenic diabetes. Sources: 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 v0.2 FGFR3 Ellen McDonagh gene: FGFR3 was added
gene: FGFR3 was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR3 were set to Hypochondroplasia, 146000; Crouzon syndrome with acanthosis nigricans, 612247
Monogenic diabetes v0.2 CEL Ellen McDonagh Added phenotypes Maturity-onset diabetes of the young, type VIII, 609812 for gene: CEL
Publications for gene CEL were changed from PMID: 16369531 to 16369531
Monogenic diabetes v0.2 CEL Ellen McDonagh gene: CEL was added
gene: CEL was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: CEL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CEL were set to PMID: 16369531
Phenotypes for gene: CEL were set to Maturity-onset diabetes of the young, type VIII, 609812
Monogenic diabetes v0.2 ZBTB20 Ellen McDonagh gene: ZBTB20 was added
gene: ZBTB20 was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: ZBTB20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZBTB20 were set to Primrose syndrome
Monogenic diabetes v0.2 PAX4 Ellen McDonagh Added phenotypes Maturity-onset diabetes of the young, type IX, 612225; Diabetes mellitus, ketosis-prone, 612227; Diabetes mellitus, type 2, 125853; Maturity Onset Diabetes of the Young for gene: PAX4
Monogenic diabetes v0.2 PAX4 Ellen McDonagh gene: PAX4 was added
gene: PAX4 was added to Monogenic diabetes. Sources: Expert Review Red
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 v0.2 KLF11 Ellen McDonagh Added phenotypes Maturity-onset diabetes of the young, type VII, 610508; Maturity Onset Diabetes of the Young for gene: KLF11
Monogenic diabetes v0.2 KLF11 Ellen McDonagh gene: KLF11 was added
gene: KLF11 was added to Monogenic diabetes. Sources: 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 v0.2 BLK Ellen McDonagh Added phenotypes Maturity-onset diabetes of the young, type 11, 613375; Maturity Onset Diabetes of the Young for gene: BLK
Monogenic diabetes v0.2 BLK Ellen McDonagh gene: BLK was added
gene: BLK was added to Monogenic diabetes. Sources: Expert Review Red
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 v0.2 PSMB8 Ellen McDonagh gene: PSMB8 was added
gene: PSMB8 was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSMB8 were set to Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040
Monogenic diabetes v0.2 IL2RA Ellen McDonagh gene: IL2RA was added
gene: IL2RA was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: IL2RA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL2RA were set to 17196245
Monogenic diabetes v0.2 IER3IP1 Ellen McDonagh gene: IER3IP1 was added
gene: IER3IP1 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IER3IP1 were set to 21835305, 22991235, 24138066
Phenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome, 614231; Microcephaly, epilepsy and diabetes syndrome
Monogenic diabetes v0.2 DCAF17 Ellen McDonagh gene: DCAF17 was added
gene: DCAF17 was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCAF17 were set to 20507343; 19026396
Monogenic diabetes v0.2 AGPS Ellen McDonagh 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 v0.2 DMXL2 Ellen McDonagh gene: DMXL2 was added
gene: DMXL2 was added to Monogenic diabetes. Sources: Expert Review Amber
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 ORPHA90636; OMIM:612186; Sensorineural Hearing Loss
Monogenic diabetes v0.2 ISCA-37432-Loss Ellen McDonagh Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37432-Loss were set to 614527; utero-vaginal atresia; RCAD syndrome; Schizophrenia; Chromosome 17q12 deletion syndrome; delayed development, intellectual disability; global developmental delay; Autism Spectrum Disorder; Renal cysts and diabetes syndrome; Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females
Monogenic diabetes v0.2 PDX1 Ellen McDonagh gene: PDX1 was added
gene: PDX1 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDX1 were set to MODY4; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4; Permanent neonatal diabetes; Maturity-onset diabetes of the young (MODY); MODY type IV
Monogenic diabetes v0.2 PIK3R1 Ellen McDonagh gene: PIK3R1 was added
gene: PIK3R1 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIK3R1 were set to 23810379; 23810382; 23810378
Phenotypes for gene: PIK3R1 were set to SHORT syndrome
Mode of pathogenicity for gene: PIK3R1 was set to Other - please provide details in the comments
Monogenic diabetes v0.2 WRN Ellen McDonagh gene: WRN was added
gene: WRN was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WRN were set to 8602509
Phenotypes for gene: WRN were set to Werner syndrome
Monogenic diabetes v0.2 PCYT1A Ellen McDonagh gene: PCYT1A was added
gene: PCYT1A was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: PCYT1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCYT1A were set to 24889630
Phenotypes for gene: PCYT1A were set to Spondylometaphyseal dysplasia with cone-rod dystrophy
Monogenic diabetes v0.2 PCNT Ellen McDonagh gene: PCNT was added
gene: PCNT was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCNT were set to 21270239
Phenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II
Monogenic diabetes v0.2 BLM Ellen McDonagh gene: BLM was added
gene: BLM was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLM were set to Bloom syndrome
Monogenic diabetes v0.2 ALMS1 Ellen McDonagh 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 v0.2 PCBD1 Ellen McDonagh gene: PCBD1 was added
gene: PCBD1 was added to Monogenic diabetes. Sources: Expert Review Amber
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
Monogenic diabetes v0.2 CAV1 Ellen McDonagh 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 v0.2 PPP1R3A Ellen McDonagh gene: PPP1R3A was added
gene: PPP1R3A was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: PPP1R3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PPP1R3A were set to Insulin resistance, severe, digenic
Monogenic diabetes v0.2 AKT2 Ellen McDonagh gene: AKT2 was added
gene: AKT2 was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AKT2 were set to 17576055; 17327441; 15166380
Phenotypes for gene: AKT2 were set to Diabetes mellitus, type II
Monogenic diabetes v0.2 POC1A Ellen McDonagh gene: POC1A was added
gene: POC1A was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POC1A were set to 26336158
Phenotypes for gene: POC1A were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
Monogenic diabetes v0.2 CIDEC Ellen McDonagh 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 Ellen McDonagh Added Panel Monogenic diabetes
Set panel types to: GMS Rare Disease Virtual