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| Monogenic diabetes v3.10 | WFS1 | Ida Ertmanska Added comment: Comment on phenotypes: Phenotypes updated 27th Feb 2026. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.10 | WFS1 | Ida Ertmanska Phenotypes for gene: WFS1 were changed from Wolfram-like syndrome, autosomal dominant, OMIM:614296; Wolfram syndrome 1, OMIM:222300; {Diabetes mellitus, noninsulin-dependent, association with}, OMIM:125853 to Wolfram syndrome 1, OMIM:222300; Wolfram syndrome 1, MONDO:0009101; Wolfram-like syndrome, MONDO:0013673; autosomal dominant nonsyndromic hearing loss, MONDO:0019587 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.9 | WFS1 | Ida Ertmanska Publications for gene: WFS1 were set to 27217304; 27185633; 33693650 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.8 | WFS1 |
Ida Ertmanska changed review comment from: PMID: 40779032 Sriram et al., 2025 Cohort of 2,571 unrelated individuals of European ancestry with clinically suspected MODY. Genes assessed: APPL1 NM_012096.3, HNF1A NM_000545.8, NEUROD1 NM_002500.5, PDX1 NM_000209.4, RFX6 NM_173560.4, and WFS1 NM_006005.3. "Frequency and co-segregation analysis examined specific, previously published variants and did not assess if other rare variants in these genes cause MODY." - MODY cohort showed no enrichment for protein-truncating variants or damaging missense variants in WFS1 (p > 0.05). Other genes (NEUROD1 and PDX1) showed enrichment in the MODY cohort. - Study identified a WFS1 p.Trp314Arg carrier: diagnosed with diabetes at age 33, BMI 22.9, no family history of diabetes, no known other pathogenic variant. PMID: 39221226 Wu et al., 2024 Whole exome seq in 165 early-onset diabetes patients. Detected WFS1 compound heterozygous variants in two patients with Wolfram Syndrome-Like disorders. WFS1 heterozygous variants were identified in patients P3-P5: c.1289C>T, p.S430L; c.1552A>G, p.M518V; c.676C>T, p.Q226*. All variants in this study affect exons 6 or 8 of WFS1. Heterozygous patients all had family history of diabetes, and were all diagnosed at 25 years old. Diagnosed with MODY rather than Wolfram Syndrome. P1: female, diagnosed with diabetes at age 25years, compound het for WFS1 c.639_640dupGG, p.A214fs*74/c.985T>A, p.F329I; mother and father heterozygous for a variant each (both diagnosed with diabetes over age 35 years). Some affected family members were carriers of either variant, some had neither. Proband did not present with ketoacidosis, optic atrophy, deafness, or diabetes insipidus. P2: female, diagnosed with diabetes at 13yo, compound het for WFS1 c.1280T>G, p.I427S/c.911T>C, p.I304T; no neurological, psychiatric, or high-frequency hearing issues, or optic nerve atrophy; brother, mother and father were heterozygous for a WFS1 variant each, not affected. Functional analysis verified the impaired function of the WFS1 compound heterozygous variants: p.A214fs*74 and p.I427S significantly reduced wolframin levels (absent/near absent); p.I427S and the compound heterozygous p.I427S/p.I304T variants significantly activated the ERSE reporter, indicating high ER stress PMID: 29207974 Bansal et al., 2017 Sequenced 22 diabetes related genes in almost 7000 individuals. Identified an individual with early onset diabetes (onset at 14 years old; no additional phenotypes associated with Wolfram syndrome), homozygous for WFS1: c.1672C > T; p.R558C. PMID: 28271591 Morikawa et al. 2017 Japanese female patient with a de novo heterozygous WFS1 c.973_984del12, p.Asn325_Ile328del variant (not in gnomAD v4.1.0. She presented with impaired growth, bilateral congenital cataracts, severe hypermetropia, severe bilateral hearing loss, delayed development, insulin dependent diabetes mellitus - diagnosed with Wolfram Syndrome. In vitro testing showed that the WFS1 variant has a dominant negative effect, increasing ER stress. PMID: 23903355 Bonnycastle et al., 2013 Large Finnish pedigree with AD diabetes, WFS1 p.Trp314Arg variant co-segregated completely with disease. Seq method: exome/Sanger. Age of diabetes onset ranged from 18 to 51 years. No history of ketoacidosis, 7/8 affected individuals treated with insulin. Functionally p.Trp314Arg appears to reduce the ability of WFS1 to protect against ER stress (study in HEK293T cells). WFS1 is associated with AR Wolfram syndrome 1, OMIM:222300 (OMIM accessed 27th Feb 2026). The gene-disease associations between WFS1 and AR Wolfram syndrome & WFS1 and AD Wolfram-like syndrome are both classified as Definitive in ClinGen - diabetes being a feature of both.; to: PMID: 40779032 Sriram et al., 2025 Cohort of 2,571 unrelated individuals of European ancestry with clinically suspected MODY. Genes assessed: APPL1 NM_012096.3, HNF1A NM_000545.8, NEUROD1 NM_002500.5, PDX1 NM_000209.4, RFX6 NM_173560.4, and WFS1 NM_006005.3. "Frequency and co-segregation analysis examined specific, previously published variants and did not assess if other rare variants in these genes cause MODY." - MODY cohort showed no enrichment for protein-truncating variants or damaging missense variants in WFS1 (p > 0.05). Other genes (NEUROD1 and PDX1) showed enrichment in the MODY cohort. - Study identified a WFS1 p.Trp314Arg carrier: diagnosed with diabetes at age 33, BMI 22.9, no family history of diabetes, no known other pathogenic variant. PMID: 39221226 Wu et al., 2024 Whole exome seq in 165 early-onset diabetes patients. Detected WFS1 compound heterozygous variants in two patients with Wolfram Syndrome-Like disorders. WFS1 heterozygous variants were identified in patients P3-P5: c.1289C>T, p.S430L; c.1552A>G, p.M518V; c.676C>T, p.Q226*. All variants in this study affect exons 6 or 8 of WFS1. Heterozygous patients all had family history of diabetes, and were all diagnosed at 25 years old. Diagnosed with MODY rather than Wolfram Syndrome. P1: female, diagnosed with diabetes at age 25years, compound het for WFS1 c.639_640dupGG, p.A214fs*74/c.985T>A, p.F329I; mother and father heterozygous for a variant each (both diagnosed with diabetes over age 35 years). Some affected family members were carriers of either variant, some had neither. Proband did not present with ketoacidosis, optic atrophy, deafness, or diabetes insipidus. P2: female, diagnosed with diabetes at 13yo, compound het for WFS1 c.1280T>G, p.I427S/c.911T>C, p.I304T; no neurological, psychiatric, or high-frequency hearing issues, or optic nerve atrophy; brother, mother and father were heterozygous for a WFS1 variant each, not affected. Functional analysis verified the impaired function of the WFS1 compound heterozygous variants: p.A214fs*74 and p.I427S significantly reduced wolframin levels (absent/near absent); p.I427S and the compound heterozygous p.I427S/p.I304T variants significantly activated the ERSE reporter, indicating high ER stress PMID: 29207974 Bansal et al., 2017 Sequenced 22 diabetes related genes in almost 7000 individuals. Identified an individual with early onset diabetes (onset at 14 years old; no additional phenotypes associated with Wolfram syndrome), homozygous for WFS1: c.1672C > T; p.R558C. PMID: 28271591 Morikawa et al. 2017 Japanese female patient with a de novo heterozygous WFS1 c.973_984del12, p.Asn325_Ile328del variant (not in gnomAD v4.1.0. She presented with impaired growth, bilateral congenital cataracts, severe hypermetropia, severe bilateral hearing loss, delayed development, insulin dependent diabetes mellitus - diagnosed with Wolfram Syndrome. In vitro testing showed that the WFS1 variant has a dominant negative effect, increasing ER stress. PMID: 23903355 Bonnycastle et al., 2013 Large Finnish pedigree with AD diabetes, WFS1 p.Trp314Arg variant co-segregated completely with disease. Seq method: exome/Sanger. Age of diabetes onset ranged from 18 to 51 years. No history of ketoacidosis, 7/8 affected individuals treated with insulin. Functionally p.Trp314Arg appears to reduce the ability of WFS1 to protect against ER stress (study in HEK293T cells). WFS1 is associated with AR Wolfram syndrome 1, OMIM:222300 (OMIM accessed 27th Feb 2026). The gene-disease associations between WFS1 and AR Wolfram syndrome, AD Wolfram-like syndrome, and AD Nonsyndromic hearing loss are all classified as Definitive in ClinGen. |
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| Monogenic diabetes v3.8 | WFS1 | Ida Ertmanska edited their review of gene: WFS1: Changed phenotypes to: Wolfram syndrome 1, OMIM:222300, Wolfram syndrome 1, MONDO:0009101, Wolfram-like syndrome, MONDO:0013673 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.8 | WFS1 | Ida Ertmanska reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23903355, 28271591, 29207974, 39221226, 40779032; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.8 | APPL1 |
Ida Ertmanska changed review comment from: PMID: 40779032 Sriram et al., 2025 Cohort of 2,571 unrelated individuals of European ancestry with clinically suspected MODY. Genes assessed: APPL1 NM_012096.3, HNF1A NM_000545.8, NEUROD1 NM_002500.5, PDX1 NM_000209.4, RFX6 NM_173560.4, and WFS1 NM_006005.3. Frequency and co-segregation analysis examined specific, previously published variants and did not assess if other rare variants in these genes cause MODY. Conflicting evidence: - 8/23 individuals originally reported in PMID: 26073777 did not have diabetes, despite carrying the variant and being over age 25 (potentially reduced penetrance/have not yet developed the disease) - Authors claim LOF variants seem generally common in gnomAD - too common to cause MODY (however, pLI score for APPL1 is 0.88 - likely to be a dosage sensitive gene) - MODY cohort showed no enrichment for protein-truncating variants or damaging missense variants in APPL1. Other genes (NEUROD1 and PDX1) showed enrichment in the MODY cohort. PMID: 38464380 Shi et al., 2024 A total of five novel APPL1 mutations were identified in patients with diabetes (onset at ages 8, 12, 13, 21, and 39 years), including four missense mutations (Asp632Tyr, Arg633His, Arg532Gln, and Ile642Met) and one intronic mutation (1153-16A>T). Seq method: WES. Of these 5, 2 variants were classed as pathogenic after analysis: APPL1 c.1894G>T (p.Asp632Tyr) and c.1595G>A (p.Arg532Gln). These variants have 2 and 13 heterozygotes reported in gnomAD v4.1.0, respectively. Incomplete pentrance noted - P3 and his grandfather had diabetes, but his father did not (also het for APPL1 p.Arg532Gln). Patient 1 had an affected father and grandmother, but genotyping was not done. Patients 2, 4, and 5 were concluded to carry non-pathogenic APPL1 variants, and were diagnosed with type 2 diabetes instead. Functional assessment: HEK293 cells transfected with mutated plasmids; the mRNA expression level of APPL1 Asp632Tyr variant decreased by 98% (P = 0.001) compared with WT-APPL1, resulting in no protein expression; mRNA expression of Arg532Gln variant decreased by 14%; protein expression of the p.Arg532Gln variant was significantly reduced compared with WT APPL1. PMID: 32854233 Ivanoshchuk et al., 2020 Cohort of 151 Russian patients with early-onset MODY/Type 2 diabetes diagnosis, sequenced using WES or targeted sequencing. APPL1 polymorphism rs11544593 was flagged as a risk factor, but no pathogenic APPL1 variants detected. PMID: 26073777 Prudente et al., 2015 Report of 2 large families with high prevalence of diabetes. Variants identified: c.1655T>A, p.Leu552* (not in gnomAD v4.1.0) and c.280G>A, p.Asp94Asn (5 heterozygous individuals reported in gnomAD v4.1.0). Seq method: WES. F1: Italian family, APPL1 c.1655T>A, p.Leu552* detected; individuals diagnosed with diabetes aged 20-50. F2: US family, APPl1 c.280G>A, p.Asp94Asn detected; individuals diagnosed with diabetes aged 10-48. Lack of mutations in the six most common MODY genes (HNF4A, GCK, HNF1A, PDX1, HNF1B, and NEUROD1) was a prerequisite for this study and confirmed in the two families. Functional evidence: the p.Leu552∗ alteration abolishes APPL1 protein expression in HepG2 transfected cells; p.Asp94Asn alteration causes significant reduction in the enhancement of the insulin-stimulated AKT2 and GSK3β phosphorylation that is observed after wild-type APPL1 transfection. APPL1 has a key regulatory role in glucose metabolism. The gene was reclassified from Moderate to Refuted by ClinGen in Feb 2026 (Monogenic diabetes panel), on the basis of evidence presented in PMID: 40779032.; to: EVIDENCE AGAINST ASSOCIATION: PMID: 40779032 Sriram et al., 2025 Cohort of 2,571 unrelated individuals of European ancestry with clinically suspected MODY. Genes assessed: APPL1 NM_012096.3, HNF1A NM_000545.8, NEUROD1 NM_002500.5, PDX1 NM_000209.4, RFX6 NM_173560.4, and WFS1 NM_006005.3. Frequency and co-segregation analysis examined specific, previously published variants and did not assess if other rare variants in these genes cause MODY. Conflicting evidence: - 8/23 individuals originally reported in PMID: 26073777 did not have diabetes, despite carrying the variant and being over age 25 (potentially reduced penetrance/have not yet developed the disease) - Authors claim LOF variants seem generally common in gnomAD - too common to cause MODY (however, pLI score for APPL1 is 0.88 - likely to be a dosage sensitive gene) - MODY cohort showed no enrichment for protein-truncating variants or damaging missense variants in APPL1. Other genes (NEUROD1 and PDX1) showed enrichment in the MODY cohort. PMID: 32854233 Ivanoshchuk et al., 2020 Cohort of 151 Russian patients with early-onset MODY/Type 2 diabetes diagnosis, sequenced using WES or targeted sequencing. APPL1 polymorphism rs11544593 was flagged as a risk factor, but no pathogenic APPL1 variants detected. The gene was reclassified from Moderate to Refuted by ClinGen in Feb 2026 (Monogenic diabetes panel), on the basis of evidence presented in PMID: 40779032. EVIDENCE SUPPORTING ASSOCIATION: PMID: 38464380 Shi et al., 2024 A total of five novel APPL1 mutations were identified in patients with diabetes (onset at ages 8, 12, 13, 21, and 39 years), including four missense mutations (Asp632Tyr, Arg633His, Arg532Gln, and Ile642Met) and one intronic mutation (1153-16A>T). Seq method: WES. Of these 5, 2 variants were classed as pathogenic after analysis: APPL1 c.1894G>T (p.Asp632Tyr) and c.1595G>A (p.Arg532Gln). These variants have 2 and 13 heterozygotes reported in gnomAD v4.1.0, respectively. Incomplete pentrance noted - P3 and his grandfather had diabetes, but his father did not (also het for APPL1 p.Arg532Gln). Patient 1 had an affected father and grandmother, but genotyping was not done. Patients 2, 4, and 5 were concluded to carry non-pathogenic APPL1 variants, and were diagnosed with type 2 diabetes instead. Functional assessment: HEK293 cells transfected with mutated plasmids; the mRNA expression level of APPL1 Asp632Tyr variant decreased by 98% (P = 0.001) compared with WT-APPL1, resulting in no protein expression; mRNA expression of Arg532Gln variant decreased by 14%; protein expression of the p.Arg532Gln variant was significantly reduced compared with WT APPL1. PMID: 26073777 Prudente et al., 2015 Report of 2 large families with high prevalence of diabetes. Variants identified: c.1655T>A, p.Leu552* (not in gnomAD v4.1.0) and c.280G>A, p.Asp94Asn (5 heterozygous individuals reported in gnomAD v4.1.0). Seq method: WES. F1: Italian family, APPL1 c.1655T>A, p.Leu552* detected; individuals diagnosed with diabetes aged 20-50. F2: US family, APPl1 c.280G>A, p.Asp94Asn detected; individuals diagnosed with diabetes aged 10-48. Lack of mutations in the six most common MODY genes (HNF4A, GCK, HNF1A, PDX1, HNF1B, and NEUROD1) was a prerequisite for this study and confirmed in the two families. Functional evidence: the p.Leu552∗ alteration abolishes APPL1 protein expression in HepG2 transfected cells; p.Asp94Asn alteration causes significant reduction in the enhancement of the insulin-stimulated AKT2 and GSK3β phosphorylation that is observed after wild-type APPL1 transfection. APPL1 has a key regulatory role in glucose metabolism. |
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| Monogenic diabetes v3.8 | APPL1 |
Ida Ertmanska Tag Q1_26_expert_review tag was added to gene: APPL1. Tag Q1_26_demote_amber tag was added to gene: APPL1. |
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| Monogenic diabetes v3.8 | APPL1 | Ida Ertmanska changed review comment from: Comment on list classification: There are 4 pedigrees reported in literature with monoallelic APPL1 variants and a diagnosis of familial MODY (PMID: 26073777; 38464380). However, the gene-disease association has recently been Refuted in ClinGen. Based on incomplete penetrance and the lack of enrichment for APPL1 variants in a large MODY cohort (PMID: 40779032), this gene will be suggested for a downgrade to Amber on Monogenic diabetes. Expert review will be sought regarding inclusion, as detection of extremely rare / low-penetrance MODY-causing variants in APPL1 may still be pertinent.; to: Comment on list classification: There are 4 pedigrees reported in literature with monoallelic APPL1 variants and a diagnosis of familial MODY (PMID: 26073777; 38464380). The variants have good evidence of impaired expression and/or function. However, the gene-disease association has recently been Refuted in ClinGen. Based on incomplete penetrance and the lack of enrichment for APPL1 variants in a large MODY cohort (PMID: 40779032), this gene will be suggested for a downgrade to Amber on Monogenic diabetes. Expert review will be sought regarding inclusion, as detection of extremely rare / low-penetrance MODY-causing variants in APPL1 may still be pertinent. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.8 | APPL1 | Ida Ertmanska commented on gene: APPL1: Comment on list classification: There are 4 pedigrees reported in literature with monoallelic APPL1 variants and a diagnosis of familial MODY (PMID: 26073777; 38464380). However, the gene-disease association has recently been Refuted in ClinGen. Based on incomplete penetrance and the lack of enrichment for APPL1 variants in a large MODY cohort (PMID: 40779032), this gene will be suggested for a downgrade to Amber on Monogenic diabetes. Expert review will be sought regarding inclusion, as detection of extremely rare / low-penetrance MODY-causing variants in APPL1 may still be pertinent. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.8 | APPL1 |
Ida Ertmanska changed review comment from: PMID: 40779032 Sriram et al., 2025 Cohort of 2,571 unrelated individuals of European ancestry with clinically suspected MODY. Genes assessed: APPL1 NM_012096.3, HNF1A NM_000545.8, NEUROD1 NM_002500.5, PDX1 NM_000209.4, RFX6 NM_173560.4, and WFS1 NM_006005.3. Frequency and co-segregation analysis examined specific, previously published variants and did not assess if other rare variants in these genes cause MODY. Conflicting evidence: - 8/23 individuals originally reported in PMID: 26073777 did not have diabetes, despite carrying the variant and being over age 25 (potentially reduced penetrance/have not yet developed the disease) - Authors claim LOF variants seem generally common in gnomAD - too common to cause MODY (however, pLI score for APPL1 is 0.88 - likely to be a dosage sensitive gene) - MODY cohort showed no enrichment for protein-truncating variants or damaging missense variants in APPL1. Other genes (NEUROD1 and PDX1) showed enrichment in the MODY cohort. PMID: 38464380 Shi et al., 2024 A total of five novel APPL1 mutations were identified in patients with diabetes (onset at ages 8, 12, 13, 21, and 39 years), including four missense mutations (Asp632Tyr, Arg633His, Arg532Gln, and Ile642Met) and one intronic mutation (1153-16A>T). Seq method: WES. Of these 5, 2 variants were classed as pathogenic after analysis: APPL1 c.1894G>T (p.Asp632Tyr) and c.1595G>A (p.Arg532Gln). These variants have 2 and 13 heterozygotes reported in gnomAD v4.1.0, respectively. Incomplete pentrance noted - P3 and his grandfather had diabetes, but his father did not (also het for APPL1 p.Arg532Gln). Patient 1 had an affected father and grandmother, but genotyping was not done. Patients 2, 4, and 5 were concluded to carry non-pathogenic APPL1 variants, and were diagnosed with type 2 diabetes instead. Functional assessment: HEK293 cells transfected with mutated plasmids; the mRNA expression level of APPL1 Asp632Tyr variant decreased by 98% (P = 0.001) compared with WT-APPL1, resulting in no protein expression; mRNA expression of Arg532Gln variant decreased by 14%; protein expression of the p.Arg532Gln variant was significantly reduced compared with WT APPL1. PMID: 32854233 Ivanoshchuk et al., 2020 Cohort of 151 Russian patients with early-onset MODY/Type 2 diabetes diagnosis, sequenced using WES or targeted sequencing. APPL1 polymorphism rs11544593 was flagged as a risk factor, but no pathogenic APPL1 variants detected. PMID: 26073777 Prudente et al., 2015 Report of 2 large families with high prevalence of diabetes. Variants identified: c.1655T>A, p.Leu552* (not in gnomAD v4.1.0) and c.280G>A, p.Asp94Asn (5 heterozygous individuals reported in gnomAD v4.1.0). Seq method: WES. F1: Italian family, APPL1 c.1655T>A, p.Leu552* detected; individuals diagnosed with diabetes aged 20-50. F2: US family, APPl1 c.280G>A, p.Asp94Asn detected; individuals diagnosed with diabetes aged 10-48. Lack of mutations in the six most common MODY genes (HNF4A, GCK, HNF1A, PDX1, HNF1B, and NEUROD1) was a prerequisite for this study and confirmed in the two families. Functional evidence: the p.Leu552∗ alteration abolishes APPL1 protein expression in HepG2 transfected cells; p.Asp94Asn alteration causes significant reduction in the enhancement of the insulin-stimulated AKT2 and GSK3β phosphorylation that is observed after wild-type APPL1 transfection. APPL1 has a key regulatory role in glucose metabolism. The gene was reclassified from Moderate to Refuted by ClinGen in Feb 2026 (Monogenic diabetes panel), on the basis of evidence presented in PMID: 40779032.; to: PMID: 40779032 Sriram et al., 2025 Cohort of 2,571 unrelated individuals of European ancestry with clinically suspected MODY. Genes assessed: APPL1 NM_012096.3, HNF1A NM_000545.8, NEUROD1 NM_002500.5, PDX1 NM_000209.4, RFX6 NM_173560.4, and WFS1 NM_006005.3. Frequency and co-segregation analysis examined specific, previously published variants and did not assess if other rare variants in these genes cause MODY. Conflicting evidence: - 8/23 individuals originally reported in PMID: 26073777 did not have diabetes, despite carrying the variant and being over age 25 (potentially reduced penetrance/have not yet developed the disease) - Authors claim LOF variants seem generally common in gnomAD - too common to cause MODY (however, pLI score for APPL1 is 0.88 - likely to be a dosage sensitive gene) - MODY cohort showed no enrichment for protein-truncating variants or damaging missense variants in APPL1. Other genes (NEUROD1 and PDX1) showed enrichment in the MODY cohort. PMID: 38464380 Shi et al., 2024 A total of five novel APPL1 mutations were identified in patients with diabetes (onset at ages 8, 12, 13, 21, and 39 years), including four missense mutations (Asp632Tyr, Arg633His, Arg532Gln, and Ile642Met) and one intronic mutation (1153-16A>T). Seq method: WES. Of these 5, 2 variants were classed as pathogenic after analysis: APPL1 c.1894G>T (p.Asp632Tyr) and c.1595G>A (p.Arg532Gln). These variants have 2 and 13 heterozygotes reported in gnomAD v4.1.0, respectively. Incomplete pentrance noted - P3 and his grandfather had diabetes, but his father did not (also het for APPL1 p.Arg532Gln). Patient 1 had an affected father and grandmother, but genotyping was not done. Patients 2, 4, and 5 were concluded to carry non-pathogenic APPL1 variants, and were diagnosed with type 2 diabetes instead. Functional assessment: HEK293 cells transfected with mutated plasmids; the mRNA expression level of APPL1 Asp632Tyr variant decreased by 98% (P = 0.001) compared with WT-APPL1, resulting in no protein expression; mRNA expression of Arg532Gln variant decreased by 14%; protein expression of the p.Arg532Gln variant was significantly reduced compared with WT APPL1. PMID: 32854233 Ivanoshchuk et al., 2020 Cohort of 151 Russian patients with early-onset MODY/Type 2 diabetes diagnosis, sequenced using WES or targeted sequencing. APPL1 polymorphism rs11544593 was flagged as a risk factor, but no pathogenic APPL1 variants detected. PMID: 26073777 Prudente et al., 2015 Report of 2 large families with high prevalence of diabetes. Variants identified: c.1655T>A, p.Leu552* (not in gnomAD v4.1.0) and c.280G>A, p.Asp94Asn (5 heterozygous individuals reported in gnomAD v4.1.0). Seq method: WES. F1: Italian family, APPL1 c.1655T>A, p.Leu552* detected; individuals diagnosed with diabetes aged 20-50. F2: US family, APPl1 c.280G>A, p.Asp94Asn detected; individuals diagnosed with diabetes aged 10-48. Lack of mutations in the six most common MODY genes (HNF4A, GCK, HNF1A, PDX1, HNF1B, and NEUROD1) was a prerequisite for this study and confirmed in the two families. Functional evidence: the p.Leu552∗ alteration abolishes APPL1 protein expression in HepG2 transfected cells; p.Asp94Asn alteration causes significant reduction in the enhancement of the insulin-stimulated AKT2 and GSK3β phosphorylation that is observed after wild-type APPL1 transfection. APPL1 has a key regulatory role in glucose metabolism. The gene was reclassified from Moderate to Refuted by ClinGen in Feb 2026 (Monogenic diabetes panel), on the basis of evidence presented in PMID: 40779032. |
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| Monogenic diabetes v3.8 | APPL1 | Ida Ertmanska edited their review of gene: APPL1: Changed publications to: 26073777, 32854233, 38464380, 40779032; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.8 | APPL1 | Ida Ertmanska reviewed gene: APPL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26073777, 38464380, 40779032; Phenotypes: {Maturity-onset diabetes of the young, type 14}, OMIM:616511; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.8 | Ida Ertmanska Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.7 | KBTBD2 | Arina Puzriakova Classified gene: KBTBD2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.7 | KBTBD2 |
Arina Puzriakova Added comment: Comment on list classification: Adding to this panel as Amber as despite there being 3 unrelated cases, a specific description of the phenotype is not provided in one case (GDX6) making it challenging to make genotype-phenotype correlations. There is only one reported case with diabetes, although it is possible that the other individuals may develop diabetes later in life. It is worth noting that this association is supported by the mouse model where insulin resistance and severe diabetes is observed. However, based on the current evidence additional support is needed before this gene can be added to a diagnostic panel. |
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| Monogenic diabetes v3.7 | KBTBD2 | Arina Puzriakova Gene: kbtbd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.6 | KBTBD2 |
Arina Puzriakova gene: KBTBD2 was added gene: KBTBD2 was added to Monogenic diabetes. Sources: Literature Mode of inheritance for gene: KBTBD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KBTBD2 were set to 39313616 Phenotypes for gene: KBTBD2 were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: KBTBD2 was set to AMBER Added comment: PMID: 39313616 (2024) - 3 unrelated cases with biallelic variants in this gene. Variants were LOF/missense compound het in 2 cases and homozygous LOF in the other case. Phenotypes include growth retardation (3/3), hyperglycemia and diabetes in an adolescent individual (1/3 - others thought to be too young to have developed diabetes), microcephaly (2/2), motor developmental delay. One individual had cardiomyopathy but also harboured an additional variant in MYH7 which could be contributing this phenotype. Knock down in mice resulted in elevated expression of p85α and a phenotype involving lipodystrophy, hepatic steatosis, insulin resistance, severe diabetes and growth retardation, which recapitulates some of the features observed in human cases. Sources: Literature |
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| Monogenic diabetes v3.5 | FICD | Arina Puzriakova Classified gene: FICD as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.5 | FICD | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - at least 6 families with diabetes mellitus and biallelic variants at the Arg371 or Arg374 residue of this gene (PMID: 36704923; 36136088; 40062579) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.5 | FICD | Arina Puzriakova Gene: ficd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.4 | FICD | Arina Puzriakova Tag recurrent-variant tag was added to gene: FICD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.4 | FICD |
Arina Puzriakova gene: FICD was added gene: FICD was added to Monogenic diabetes. Sources: Literature Q3_25_promote_green tags were added to gene: FICD. Mode of inheritance for gene: FICD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FICD were set to 36704923; 36136088; 40062579 Phenotypes for gene: FICD were set to Spastic paraplegia 92, autosomal recessive, OMIM:620911; diabetes mellitus, MONDO:0005015; Neonatal insulin-dependent diabetes mellitus, HP:0000857 Review for gene: FICD was set to GREEN Added comment: - PMID: 36704923 (2022) - infantile diabetes and neurodevelopmental delay associated with a single variant p.Arg371Ser, in three consanguineous families, two of which shared a common haplotype - PMID: 36136088 (2022) - four unrelated families from different ethnic backgrounds, all harboured the same p.Arg374His variant, which was homozygous in all but one case where the variant was present in a compound heterozygous state with a frameshift variant, p.Gly370GlufsTer53. Haplotype analysis did indicate that there is a shared haplotype in all patients with the p.Arg374His variant, strongly suggesting a founder effect. Affected individuals presented with severe motor neuron disease and one patient from this cohort also had diabetes mellitus. - PMID: 40062579 (2025) - an additional four individuals from two families with variants affecting the Arg374 residue, who presented with complicated HSP and diabetes mellitus, merging these two previously distinct presentations. The report describes one Serbian family, comprising 2 sibs with cHSP (age of onset: 5 and 6) and diabetes mellitus (age of diagnosis: 25 and 27). The sibs had the recurrent homozygous variant p.Arg374His - however, the haplotype identified in the previous report was not found in this family, suggesting that this is an independent event. The second was a consanguineous family from Saudi Arabia with 2 sibs affected by progressive HSP and diabetes (one prediabetic) - age of onset unclear but paediatric. This family harboured a novel homozygous variant, p.Arg374Cys. No cognitive deficits were reported in either family. The coexistence of motor neuron disease and diabetes suggests a broader range of neurological and metabolic effects of FICD dysfunction which does warrant further investigation. It is possible that these presentations may be more related than initially thought - individuals diagnosed with infancy-onset diabetes mellitus may develop spasticity later in life, and vice versa. Sources: Literature |
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| Monogenic diabetes v3.3 | POC5 |
Arina Puzriakova changed review comment from: Total of 12 families reported in PMID:40590205 and PMID:29272404 with biallelic LOF variants in the POC5 gene presenting with retinal dystrophy (11/12), diabetes mellitus (10/12), lipodystrophy (6/12), kidney disease (7/12), and muscle cramps (8/12). Two variants were found in multiple unrelated families from different ethnic and geographic backgrounds. Aberrant localization of POC5 at the basal body of the cilium, provides evidence that the described syndrome is a ciliopathy. Supportive zebrafish knockdown model. Sources: Literature; to: Total of 12 families reported in PMID:40590205 and PMID:29272404 with biallelic LOF variants in the POC5 gene presenting with retinal dystrophy (11/12), diabetes mellitus (10/12), lipodystrophy (6/12), kidney disease (7/12), and muscle cramps (8/12). Ten different variants identified with two variants found in multiple unrelated families from different ethnic and geographic backgrounds. Aberrant localization of POC5 at the basal body of the cilium, provides evidence that the described syndrome is a ciliopathy. Supportive zebrafish knockdown model. Sources: Literature |
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| Monogenic diabetes v3.3 | POC5 | Arina Puzriakova Classified gene: POC5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.3 | POC5 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.3 | POC5 | Arina Puzriakova Gene: poc5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.2 | POC5 |
Arina Puzriakova gene: POC5 was added gene: POC5 was added to Monogenic diabetes. Sources: Literature Q3_25_promote_green tags were added to gene: POC5. Mode of inheritance for gene: POC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POC5 were set to 29272404; 40590205 Phenotypes for gene: POC5 were set to Retinal dystrophy; diabetes mellitus; lipodystrophy; renal failure; abnormal muscle physiology Review for gene: POC5 was set to GREEN Added comment: Total of 12 families reported in PMID:40590205 and PMID:29272404 with biallelic LOF variants in the POC5 gene presenting with retinal dystrophy (11/12), diabetes mellitus (10/12), lipodystrophy (6/12), kidney disease (7/12), and muscle cramps (8/12). Two variants were found in multiple unrelated families from different ethnic and geographic backgrounds. Aberrant localization of POC5 at the basal body of the cilium, provides evidence that the described syndrome is a ciliopathy. Supportive zebrafish knockdown model. Sources: Literature |
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| Monogenic diabetes v3.1 | Eleanor Williams Panel version 3.0 has been signed off on 2025-04-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.0 | Eleanor Williams promoted panel to version 3.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.60 | SMPD4 | Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: SMPD4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.60 | DUT | Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: DUT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.60 | SMPD4 | Achchuthan Shanmugasundram commented on gene: SMPD4: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.60 | DUT | Achchuthan Shanmugasundram reviewed gene: DUT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.59 | SMPD4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SMPD4. Source NHS GMS was added to SMPD4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Monogenic diabetes v2.59 | DUT |
Achchuthan Shanmugasundram Source Expert Review Green was added to DUT. Source NHS GMS was added to DUT. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Monogenic diabetes v2.58 | MT-TL1 | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.58 | BLM | Arina Puzriakova Phenotypes for gene: BLM were changed from Bloom syndrome to Bloom syndrome, OMIM:210900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.57 | SMPD4 | Achchuthan Shanmugasundram Classified gene: SMPD4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.57 | SMPD4 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there are five individuals from three unrelated families with biallelic loss-of-function SMPD4 variants. They developed insulin-dependent diabetes, besides presenting with a severe neurodevelopmental disorder and microcephaly. In addition, review of past reports showed 27% of patients had insulin-dependent diabetes. This gene can therefore be promoted to green rating in the next GMS review. |
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| Monogenic diabetes v2.57 | SMPD4 | Achchuthan Shanmugasundram Gene: smpd4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.56 | SMPD4 | Achchuthan Shanmugasundram Phenotypes for gene: SMPD4 were changed from NDD, microcephaly and diabetes to Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, OMIM:618622; type 1 diabetes mellitus, MONDO:0005147 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.55 | SMPD4 | Achchuthan Shanmugasundram Publications for gene: SMPD4 were set to PMID: 36732302 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.54 | SMPD4 | Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: SMPD4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.54 | SMPD4 | Achchuthan Shanmugasundram edited their review of gene: SMPD4: Changed publications to: 36732302 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.54 | SMPD4 | Achchuthan Shanmugasundram reviewed gene: SMPD4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, OMIM:618622, type 1 diabetes mellitus, MONDO:0005147; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.54 | DUT | Arina Puzriakova Tag Q4_23_NHS_review was removed from gene: DUT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.54 | DUT | Arina Puzriakova Entity copied from Primary immunodeficiency or monogenic inflammatory bowel disease v4.133 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.54 | DUT |
Arina Puzriakova gene: DUT was added gene: DUT was added to Monogenic diabetes. Sources: Expert Review Amber,Literature Q4_23_promote_green, Q4_23_NHS_review tags were added to gene: DUT. Mode of inheritance for gene: DUT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DUT were set to 28073829; 35611808; 35931051 Phenotypes for gene: DUT were set to Bone marrow failure and diabetes mellitus syndrome, OMIM:620044 |
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| Monogenic diabetes v2.53 | SMPD4 |
Dmitrijs Rots 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 NDD, microcephaly and diabetes Penetrance for gene: SMPD4 were set to Complete Review for gene: SMPD4 was set to AMBER Added comment: PMID: 36732302 reported three independent families with multiple affected individuals with biallelic SMPD4 variants with severe NDD and insulin-dependent diabetes. Given the syndromic presentation - not sure about the relevancy for the panel. Sources: Literature |
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| Monogenic diabetes v2.51 | HNF1A | Arina Puzriakova Tag watchlist_moi tag was added to gene: HNF1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.51 | HNF1A | Arina Puzriakova Added comment: Comment on mode of inheritance: Homozygous loss-of-function germline variants are thought to be embryonically lethal, however one family including three insulin-treated family members diagnosed with diabetes before 20 years of age was identified by Misra et al. 2020 (PMID: 32001615) with a homozygous hypomorphic variant in the HNF1A gene. This is not yet sufficient to update the MOI but should be noted if further recessive cases are reported in the future. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.51 | HNF1A | Arina Puzriakova Mode of inheritance for gene: HNF1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.50 | PAX4 | Sarah Leigh Publications for gene: PAX4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.49 | KLF11 | Sarah Leigh Publications for gene: KLF11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.48 | BLK | Sarah Leigh Publications for gene: BLK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.47 | MT-TL1 | Arina Puzriakova Tag gene-checked tag was added to gene: MT-TL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.47 | ISCA-37432-Loss | Arina Puzriakova commented on Region: ISCA-37432-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.47 | ISCA-37432-Loss |
Arina Puzriakova GRCh38 position for ISCA-37432-Loss was changed from 36458167-37854617 to 36458167-37854616. Required Overlap Percentage for ISCA-37432-Loss was changed from 80 to 60. |
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| Monogenic diabetes v2.46 | PLIN1 | Ivone Leong Mode of pathogenicity for gene: PLIN1 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 v2.45 | PLIN1 | Sarah Leigh reviewed gene: PLIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.45 | PLIN1 | Sarah Leigh Publications for gene: PLIN1 were set to 21345103; 30020498; 11371650; 25695774 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.44 | PSMB8 | Arina Puzriakova Phenotypes for gene: PSMB8 were changed from Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040 to Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.43 | BSCL2 | Arina Puzriakova Phenotypes for gene: BSCL2 were changed from Berardinelli-Seip congenital lipodystrophy; Lipodystrophy, congenital generalized, type 2, 269700 to Lipodystrophy, congenital generalized, type 2, OMIM:269700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.42 | WFS1 | Eleanor Williams Publications for gene: WFS1 were set to 27217304; 27185633 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.41 | WFS1 | Eleanor Williams reviewed gene: WFS1: Rating: ; Mode of pathogenicity: None; Publications: 33693650; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.41 | ZMPSTE24 | Ivone Leong Phenotypes for gene: ZMPSTE24 were changed from Mandibuloacral dysplasia with type B lipodystrophy, 608612 to Mandibuloacral dysplasia with type B lipodystrophy, OMIM:608612 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.40 | ZFP57 | Ivone Leong Phenotypes for gene: ZFP57 were changed from Transient Neonatal Diabetes, Recessive; Diabetes mellitus, transient neonatal, 1, 601410; Transient Neonatal Diabetes to transient neonatal diabetes mellitus (disease), MONDO:0020525; Diabetes mellitus, transient neonatal, 1, OMIM:601410 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.39 | ZBTB20 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Primrose syndrome, 259050;Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications) |
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| Monogenic diabetes v2.39 | ZBTB20 | Ivone Leong Phenotypes for gene: ZBTB20 were changed from Primrose syndrome, 259050; Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications) to diabetes mellitus (disease), MONDO:0005015 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.38 | WFS1 |
Ivone Leong Added comment: Comment on phenotypes: Previous 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 |
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| Monogenic diabetes v2.38 | WFS1 | Ivone Leong Phenotypes for gene: WFS1 were changed from 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 to Wolfram-like syndrome, autosomal dominant, OMIM:614296; Wolfram syndrome 1, OMIM:222300; {Diabetes mellitus, noninsulin-dependent, association with}, OMIM:125853 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.37 | TRMT10A |
Ivone Leong Added comment: Comment on phenotypes: Previous 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;Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability;Microcephaly, short stature, and impaired glucose metabolism 1, 616033 |
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| Monogenic diabetes v2.37 | 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; Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability; Microcephaly, short stature, and impaired glucose metabolism 1, 616033 to Microcephaly, short stature, and impaired glucose metabolism 1, OMIM:616033 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.36 | SLC29A3 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: 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 |
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| Monogenic diabetes v2.36 | SLC29A3 | Ivone Leong Phenotypes for gene: SLC29A3 were changed from 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 to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.35 | RFX6 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities;Mitchell-Riley syndrome, 615710;recessive syndromic diabetes and autosomal dominant MODY |
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| Monogenic diabetes v2.35 | RFX6 | Ivone Leong Phenotypes for gene: RFX6 were changed from Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities; Mitchell-Riley syndrome, 615710; recessive syndromic diabetes and autosomal dominant MODY to Mitchell-Riley syndrome, OMIM:615710 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.34 | PPP1R15B | Ivone Leong Phenotypes for gene: PPP1R15B were changed from Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability,616817 to Microcephaly, short stature, and impaired glucose metabolism 2, OMIM:616817 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.33 | PPARG |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Lipodystrophy, familial partial, type 3, 604367;FPLD3;{Diabetes, type 2}, 125853;[Obesity, resistance to];Obesity, severe, 601665;Lipodystrophy, familial partial, type 3;Insulin resistance, severe, digenic;Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension;Insulin resistance, severe, digenic 604367;Insulin resistance, severe, digenic, 604367;LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3;Lipodystrophy, familial partial, type 3 604367;Carotid intimal medial thickness 1, 609338 |
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| Monogenic diabetes v2.33 | PPARG | Ivone Leong Phenotypes for gene: PPARG were changed from Lipodystrophy, familial partial, type 3, 604367; FPLD3; {Diabetes, type 2}, 125853; [Obesity, resistance to]; Obesity, severe, 601665; Lipodystrophy, familial partial, type 3; Insulin resistance, severe, digenic; Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension; Insulin resistance, severe, digenic 604367; Insulin resistance, severe, digenic, 604367; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; Lipodystrophy, familial partial, type 3 604367; Carotid intimal medial thickness 1, 609338 to Lipodystrophy, familial partial, type 3, OMIM:604367; Insulin resistance, severe, digenic, OMIM:604367; Obesity, severe, OMIM:601665; {Diabetes, type 2}, OMIM:125853 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.32 | PLIN1 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes;Lipodystrophy, familial partial, type 4, 613877;Severe insulin resistance, partial lipodystrophy and diabetes |
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| Monogenic diabetes v2.32 | PLIN1 | Ivone Leong Phenotypes for gene: PLIN1 were changed from partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes; Lipodystrophy, familial partial, type 4, 613877; Severe insulin resistance, partial lipodystrophy and diabetes to Lipodystrophy, familial partial, type 4, OMIM:613877 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.31 | PIK3R1 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880;SHORT syndrome |
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| Monogenic diabetes v2.31 | 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, 269880; SHORT syndrome to SHORT syndrome, OMIM:269880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.30 | PDX1 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: 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 |
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| Monogenic diabetes v2.30 | 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; Recessive neonatal diabetes, pancreatic agenesis and dominant MODY, 606392 to Pancreatic agenesis 1, OMIM:260370; MODY, type IV, OMIM:606392 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.29 | PCBD1 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070;Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty) |
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| Monogenic diabetes v2.29 | PCBD1 | Ivone Leong Phenotypes for gene: PCBD1 were changed from Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty) to Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.28 | PCBD1 | Ivone Leong Phenotypes for gene: PCBD1 were changed from Hyperphenylalaninemia, BH4-deficient, D, 264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty) to Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.27 | PAX6 | Ivone Leong Added comment: Comment on phenotypes: Also associated with aniridia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.27 | PAX6 | Ivone Leong Phenotypes for gene: PAX6 were changed from diabetes mellitus (disease), MONDO:0005015 to diabetes mellitus (disease), MONDO:0005015 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.26 | PAX6 | Ivone Leong Added comment: Comment on phenotypes: Also associated with aniridia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.26 | PAX6 | Ivone Leong Phenotypes for gene: PAX6 were changed from Aniridia 106210; diabetes to diabetes mellitus (disease), MONDO:0005015 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.25 | NEUROD1 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: 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 |
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| Monogenic diabetes v2.25 | NEUROD1 | Ivone Leong Phenotypes for gene: NEUROD1 were changed from 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 to Maturity-onset diabetes of the young 6, OMIM:606394; {Type 2 diabetes mellitus, susceptibility to}, OMIM:125853 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.24 | MT-TL1 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: MIDD;DIABETES AND DEAFNESS, MATERNALLY INHERITED;Diabetes-Deafness Syndrome, Maternally Transmitted;MELAS syndrome;Maternally inherited diabetes |
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| Monogenic diabetes v2.24 | 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; Maternally inherited diabetes to maternally-inherited diabetes and deafness, MONDO:0010785 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.23 | LMNA |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: 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 |
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| Monogenic diabetes v2.23 | 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; Severe insulin resistance, partial lipodystrophy and diabetes to Lipodystrophy, familial partial, type 2, OMIM:151660; Severe insulin resistance, partial lipodystrophy and diabetes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.22 | KCNJ11 | Ivone Leong Phenotypes for gene: KCNJ11 were changed from Diabetes mellitus, transient neonatal, 3, OMIM:610582; Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856; Hyperinsulinemic hypoglycemia, familial, 2, OMIM:601820 to Diabetes mellitus, transient neonatal, 3, OMIM:610582; Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856; Hyperinsulinemic hypoglycemia, familial, 2, OMIM:601820; Maturity-onset diabetes of the young, type 13, OMIM:616329 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.21 | KCNJ11 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Transient Neonatal diabetes mellitus (Dominant);Transient Neonatal Diabetes, Dominant;Diabetes mellitus, transient neonatal, 3, 610582;Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive);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, permanent neonatal, 606176;Diabetes mellitus, permanent neonatal, with neurologic features, 606176;Maturity Onset Diabetes of the Young;{Diabetes mellitus, type 2, susceptibility to}, 125853;Hyperinsulinemic hypoglycemia, familial, 2, 601820;Transient Neonatal, 3;Maturity Onset Diabetes of the Young (Dominant);Diabetes Mellitus, Permanent Neonatal;Diabetes mellitus, trans;Diabetes Mellitus, Transient Neonatal, 3 |
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| Monogenic diabetes v2.21 | KCNJ11 | Ivone Leong Phenotypes for gene: KCNJ11 were changed from Transient Neonatal diabetes mellitus (Dominant); Transient Neonatal Diabetes, Dominant; Diabetes mellitus, transient neonatal, 3, 610582; Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive); 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, permanent neonatal, 606176; Diabetes mellitus, permanent neonatal, with neurologic features, 606176; Maturity Onset Diabetes of the Young; {Diabetes mellitus, type 2, susceptibility to}, 125853; Hyperinsulinemic hypoglycemia, familial, 2, 601820; Transient Neonatal, 3; Maturity Onset Diabetes of the Young (Dominant); Diabetes Mellitus, Permanent Neonatal; Diabetes mellitus, trans; Diabetes Mellitus, Transient Neonatal, 3 to Diabetes mellitus, transient neonatal, 3, OMIM:610582; Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856; Hyperinsulinemic hypoglycemia, familial, 2, OMIM:601820 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.20 | INSR |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: 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 |
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| Monogenic diabetes v2.20 | INSR | Ivone Leong Phenotypes for gene: INSR were changed from 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 to Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans, OMIM:610549; Hyperinsulinemic hypoglycemia, familial, 5, OMIM:609968; Leprechaunism, OMIM:246200; Rabson-Mendenhall syndrome, OMIM:262190 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.19 | INS |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: MODY10;Maturity-onset diabetes of the young, type 10, 613370;Transient Neonatal Diabetes, Dominant/Recessive;Diabetes mellitus, permanent neonatal, 606176;Diabetes mellitus, insulin-dependent, 2, 125852;MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10;Maturity Onset Diabetes of the Young;Permanent Neonatal diabetes mellitus;Hyperproinsulinemia, familial, with or without diabetes;Maturity Onset Diabetes of the Young (Dominant);Diabetes mellitus, type 1, 125852 |
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| Monogenic diabetes v2.19 | INS | Ivone Leong Phenotypes for gene: INS were changed from MODY10; Maturity-onset diabetes of the young, type 10, 613370; Transient Neonatal Diabetes, Dominant/Recessive; Diabetes mellitus, permanent neonatal, 606176; Diabetes mellitus, insulin-dependent, 2, 125852; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; Maturity Onset Diabetes of the Young; Permanent Neonatal diabetes mellitus; Hyperproinsulinemia, familial, with or without diabetes; Maturity Onset Diabetes of the Young (Dominant); Diabetes mellitus, type 1, 125852 to Maturity-onset diabetes of the young, type 10, OMIM:613370; Diabetes mellitus, permanent neonatal 4, OMIM:618858; Diabetes mellitus, insulin-dependent, 2, OMIM:125852; Hyperproinsulinemia, OMIM:616214 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.18 | HNF4A | Ivone Leong Phenotypes for gene: HNF4A were changed from {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 to {Diabetes mellitus, noninsulin-dependent}, OMIM:125853; MODY, type I , OMIM:125850; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.17 | HNF1B |
Ivone Leong Added comment: Comment on phenotypes: Previous 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 |
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| Monogenic diabetes v2.17 | HNF1B | Ivone Leong Phenotypes for gene: HNF1B were changed from 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 to transient neonatal diabetes mellitus (disease), MONDO:0020525; Type 2 diabetes mellitus, OMIM:125853; maturity-onset diabetes of the young (disease), MONDO:0018911 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.16 | GCK |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: 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 |
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| Monogenic diabetes v2.16 | 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; Neonatal diabetes; Fasting hyperglycaemia to Hyperinsulinemic hypoglycemia, familial, 3, OMIM:602485; Diabetes mellitus, noninsulin-dependent, late onset, OMIM:125853; MODY, type II, OMIM:125851; Diabetes mellitus, permanent neonatal 1, OMIM:606176 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.15 | HNF1A |
Ivone Leong Added comment: Comment on phenotypes: Phenotypes were previous: Hepatic adenoma, somatic, 142330;Maturity-Onset Diabetes Of The Young;{Diabetes mellitus, insulin-dependent}, 222100;Renal cell carcinoma, 144700;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, 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 |
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| Monogenic diabetes v2.15 | HNF1A | Ivone Leong Phenotypes for gene: HNF1A were changed from Hepatic adenoma, somatic, 142330; Maturity-Onset Diabetes Of The Young; {Diabetes mellitus, insulin-dependent}, 222100; Renal cell carcinoma, 144700; 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, 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 to Diabetes mellitus, insulin-dependent, 20, OMIM:612520; {Diabetes mellitus, noninsulin-dependent, 2}, OMIM:125853; MODY, type III, OMIM:600496 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.14 | POLD1 | Arina Puzriakova 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; multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.13 | GATA6 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Pancreatic agenesis and congenital heart defects;PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS;Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes) |
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| Monogenic diabetes v2.13 | GATA6 | Ivone Leong Phenotypes for gene: GATA6 were changed from Pancreatic agenesis and congenital heart defects; PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes) to PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OMIM:600001; Metabolic syndrome, MONDO:0004955 (coronary artery disease, hypertension, central obesity and diabetes) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.12 | GATA4 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Neonatal diabetes;Pancreatic agenesis and/or congenital heart defects;Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes) |
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| Monogenic diabetes v2.12 | GATA4 | Ivone Leong Phenotypes for gene: GATA4 were changed from Neonatal diabetes; Pancreatic agenesis and/or congenital heart defects; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes) to NEONATAL DIABETES MELLITUS, MONDO:0016391; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, MONDO:0010802; Metabolic syndrome, MONDO:0004955 (coronary artery disease, hypertension, central obesity and diabetes) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.11 | DYRK1B |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Abdominal obesity-metabolic syndrome 3, 615812; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes) |
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| Monogenic diabetes v2.11 | DYRK1B | Ivone Leong Phenotypes for gene: DYRK1B were changed from Abdominal obesity-metabolic syndrome 3, 615812; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes) to Abdominal obesity-metabolic syndrome 3, OMIM:615812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.10 | DNAJC3 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192;Autosomal recessive juvenile-onset diabetes with central and peripheral neurodegeneration |
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| Monogenic diabetes v2.10 | DNAJC3 | Ivone Leong Phenotypes for gene: DNAJC3 were changed from ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192; Autosomal recessive juvenile-onset diabetes with central and peripheral neurodegeneration to ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, OMIM:616192; juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, MONDO:0014523 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.9 | DCAF17 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Woodhouse-Sakati syndrome, 241080;Woodhouse-Sakati syndrome (hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness) |
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| Monogenic diabetes v2.9 | DCAF17 | Ivone Leong Phenotypes for gene: DCAF17 were changed from Woodhouse-Sakati syndrome, 241080; Woodhouse-Sakati syndrome (hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness) to Woodhouse-Sakati syndrome, OMIM:241080 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.8 | CISD2 | Ivone Leong Phenotypes for gene: CISD2 were changed from Wolfram syndrome 2604928 to Wolfram syndrome 2, OMIM:604928 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.7 | CEL | Ivone Leong Phenotypes for gene: CEL were changed from Maturity-onset diabetes of the young, type VIII, 609812; Diabetes and pancreatic exocrine dysfunction to Maturity-onset diabetes of the young, type VIII, OMIM:609812; Diabetes and pancreatic exocrine dysfunction | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.6 | APPL1 | Ivone Leong Phenotypes for gene: APPL1 were changed from {Maturity-onset diabetes of the young, type 14}, 616511; Diabetes to {Maturity-onset diabetes of the young, type 14}, OMIM:616511 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.5 | ABCC8 |
Ivone Leong Added comment: Comment on phenotypes: Previous 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 (recessive);Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6;Permanent Neonatal Diabetes Mellitus |
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| Monogenic diabetes v2.5 | ABCC8 | Ivone Leong Phenotypes for gene: ABCC8 were changed from 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 (recessive); Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6; Permanent Neonatal Diabetes Mellitus to Transient Neonatal Diabetes Mellitus, MONDO:0020525 (dominant); Diabetes mellitus, noninsulin-dependent, OMIM:125853; Diabetes mellitus, transient neonatal 2, OMIM:610374; Hyperinsulinemic hypoglycemia, familial, 1, OMIM:256450; Hypoglycemia of infancy, leucine-sensitive, OMIM:240800; Permanent Neonatal Diabetes Mellitus, MONDO:0100164(recessive) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | ISCA-37432-Loss | Arina Puzriakova Tag curated_removed tag was added to Region: ISCA-37432-Loss. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | WRN | Arina Puzriakova Tag curated_removed tag was added to gene: WRN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | TFR2 | Arina Puzriakova Tag curated_removed tag was added to gene: TFR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | STAT3 | Arina Puzriakova Tag curated_removed tag was added to gene: STAT3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | STAT1 | Arina Puzriakova Tag curated_removed tag was added to gene: STAT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | SLC40A1 | Arina Puzriakova Tag curated_removed tag was added to gene: SLC40A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | SLC2A2 | Arina Puzriakova Tag curated_removed tag was added to gene: SLC2A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | SLC19A2 | Arina Puzriakova Tag curated_removed tag was added to gene: SLC19A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | PTF1A | Arina Puzriakova Tag curated_removed tag was added to gene: PTF1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | PSMB8 | Arina Puzriakova Tag curated_removed tag was added to gene: PSMB8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | PPP1R3A | Arina Puzriakova Tag curated_removed tag was added to gene: PPP1R3A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | POC1A | Arina Puzriakova Tag curated_removed tag was added to gene: POC1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | PCYT1A | Arina Puzriakova Tag curated_removed tag was added to gene: PCYT1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | PCNT | Arina Puzriakova Tag curated_removed tag was added to gene: PCNT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | PAX4 | Arina Puzriakova Tag curated_removed tag was added to gene: PAX4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | NSMCE2 | Arina Puzriakova Tag curated_removed tag was added to gene: NSMCE2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | NKX2-2 | Arina Puzriakova Tag curated_removed tag was added to gene: NKX2-2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | NEUROG3 | Arina Puzriakova Tag curated_removed tag was added to gene: NEUROG3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | MNX1 | Arina Puzriakova Tag curated_removed tag was added to gene: MNX1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | LRBA | Arina Puzriakova Tag curated_removed tag was added to gene: LRBA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | LIPC | Arina Puzriakova Tag curated_removed tag was added to gene: LIPC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | KLF11 | Arina Puzriakova Tag curated_removed tag was added to gene: KLF11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | IL2RA | Arina Puzriakova Tag curated_removed tag was added to gene: IL2RA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | IER3IP1 | Arina Puzriakova Tag curated_removed tag was added to gene: IER3IP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | HFE2 | Arina Puzriakova Tag curated_removed tag was added to gene: HFE2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | HFE | Arina Puzriakova Tag curated_removed tag was added to gene: HFE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | HAMP | Arina Puzriakova Tag curated_removed tag was added to gene: HAMP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | GLIS3 | Arina Puzriakova Tag curated_removed tag was added to gene: GLIS3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | FOXP3 | Arina Puzriakova Tag curated_removed tag was added to gene: FOXP3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | FOXC2 | Arina Puzriakova Tag curated_removed tag was added to gene: FOXC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | FGFR3 | Arina Puzriakova Tag curated_removed tag was added to gene: FGFR3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | ENPP1 | Arina Puzriakova Tag curated_removed tag was added to gene: ENPP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | EIF2AK3 | Arina Puzriakova Tag curated_removed tag was added to gene: EIF2AK3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | DMXL2 | Arina Puzriakova Tag curated_removed tag was added to gene: DMXL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | CAVIN1 | Arina Puzriakova Tag curated_removed tag was added to gene: CAVIN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | BSCL2 | Arina Puzriakova Tag curated_removed tag was added to gene: BSCL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | BLM | Arina Puzriakova Tag curated_removed tag was added to gene: BLM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | BLK | Arina Puzriakova Tag curated_removed tag was added to gene: BLK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | ALMS1 | Arina Puzriakova Tag curated_removed tag was added to gene: ALMS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | AGPAT2 | Arina Puzriakova Tag curated_removed tag was added to gene: AGPAT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | AKT2 | Arina Puzriakova Phenotypes for gene: AKT2 were changed from Diabetes mellitus, type II, 125853; Severe insulin resistance, partial lipodystrophy and diabetes to Diabetes mellitus, type II, OMIM:125853; Type 2 diabetes mellitus, MONDO:0005148 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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) |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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) |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| Monogenic diabetes v0.0 |
Ellen McDonagh Added Panel Monogenic diabetes Set panel types to: GMS Rare Disease Virtual |
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