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Maturity-onset Diabetes of the Young v1.21 BLK Zornitza Stark Deleted their review
Maturity-onset Diabetes of the Young v1.21 BLK Zornitza Stark Marked gene: BLK as ready
Maturity-onset Diabetes of the Young v1.21 BLK Zornitza Stark Gene: blk has been classified as Red List (Low Evidence).
Maturity-onset Diabetes of the Young v1.21 BLK Zornitza Stark Phenotypes for gene: BLK were changed from Maturity Onset Diabetes of the Young; Maturity-onset diabetes of the young, type 11, 613375 to Maturity-onset diabetes of the young, type 11 MIM#613375
Maturity-onset Diabetes of the Young v1.20 BLK Zornitza Stark Publications for gene: BLK were set to
Maturity-onset Diabetes of the Young v1.19 BLK Zornitza Stark Tag refuted tag was added to gene: BLK.
Maturity-onset Diabetes of the Young v1.19 INS Zornitza Stark Phenotypes for gene: INS were changed from Maturity Onset Diabetes of the Young (Dominant); Maturity Onset Diabetes of the Young; Transient Neonatal Diabetes, Dominant/Recessive; Hyperproinsulinemia, familial, with or without diabetes to monogenic diabetes MONDO:0015967; Diabetes mellitus, insulin-dependent, 2, MIM# 125852; Diabetes mellitus, permanent neonatal 4, MIM# 618858; Maturity-onset diabetes of the young, type 10, MIM# 613370
Maturity-onset Diabetes of the Young v1.18 INS Zornitza Stark Publications for gene: INS were set to 18162506
Maturity-onset Diabetes of the Young v1.17 INS Sangavi Sivagnanasundram reviewed gene: INS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9884331; Phenotypes: monogenic diabetes MONDO:0015967; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Maturity-onset Diabetes of the Young v1.17 BLK Sangavi Sivagnanasundram reviewed gene: BLK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: monogenic diabetes MONDO:0015967; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Maturity-onset Diabetes of the Young v1.17 RFX6 Bryony Thompson changed review comment from: At least 3 unrelated cases with heterozygous variants and a suspected diagnosis of MODY. Null mouse model demonstrates abnormal pancreatic islet cells.
Sources: Expert list; to: At least 3 unrelated cases with heterozygous variants and a suspected diagnosis of MODY. Expected to have reduced penetrance. Null mouse model demonstrates abnormal pancreatic islet cells.
Sources: Expert list
Maturity-onset Diabetes of the Young v1.17 RFX6 Bryony Thompson edited their review of gene: RFX6: Changed rating: GREEN
Maturity-onset Diabetes of the Young v1.17 RFX6 Bryony Thompson Classified gene: RFX6 as Green List (high evidence)
Maturity-onset Diabetes of the Young v1.17 RFX6 Bryony Thompson Gene: rfx6 has been classified as Green List (High Evidence).
Maturity-onset Diabetes of the Young v1.16 RFX6 Bryony Thompson Phenotypes for gene: RFX6 were changed from Maturity-onset diabetes of the young to maturity-onset diabetes of the young MONDO:0018911
Maturity-onset Diabetes of the Young v1.15 WFS1 Bryony Thompson Publications for gene: WFS1 were set to 27185633
Maturity-onset Diabetes of the Young v1.14 RFX6 Bryony Thompson Publications for gene: RFX6 were set to 20148032; 25048417; 27185633; 29026101; 31001871
Maturity-onset Diabetes of the Young v1.13 RFX6 Bryony Thompson Classified gene: RFX6 as Amber List (moderate evidence)
Maturity-onset Diabetes of the Young v1.13 RFX6 Bryony Thompson Gene: rfx6 has been classified as Amber List (Moderate Evidence).
Maturity-onset Diabetes of the Young v1.12 RFX6 Bryony Thompson edited their review of gene: RFX6: Added comment: PMID: 36208030 - a study using the UK Biobank comparing individuals with and without diabetes found heterozygous variants (mainly LoF) in RFX6 were ‘Inconclusive’ with being highly penetrant for diabetes (met one of two statistical criteria - met enrichment criteria & failed comparison to maximum credible allele frequency); Changed rating: AMBER; Changed publications: 20148032, 25048417, 27185633, 29026101, 31001871, 36208030
Maturity-onset Diabetes of the Young v1.12 WFS1 Bryony Thompson Marked gene: WFS1 as ready
Maturity-onset Diabetes of the Young v1.12 WFS1 Bryony Thompson Gene: wfs1 has been classified as Red List (Low Evidence).
Maturity-onset Diabetes of the Young v1.12 WFS1 Bryony Thompson Classified gene: WFS1 as Red List (low evidence)
Maturity-onset Diabetes of the Young v1.12 WFS1 Bryony Thompson Gene: wfs1 has been classified as Red List (Low Evidence).
Maturity-onset Diabetes of the Young v1.11 WFS1 Bryony Thompson reviewed gene: WFS1: Rating: RED; Mode of pathogenicity: None; Publications: 30014265, 36208030; Phenotypes: maturity-onset diabetes of the young MONDO:0018911; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Maturity-onset Diabetes of the Young v1.11 GATA6 Bryony Thompson Marked gene: GATA6 as ready
Maturity-onset Diabetes of the Young v1.11 GATA6 Bryony Thompson Gene: gata6 has been classified as Red List (Low Evidence).
Maturity-onset Diabetes of the Young v1.11 GATA6 Bryony Thompson Classified gene: GATA6 as Red List (low evidence)
Maturity-onset Diabetes of the Young v1.11 GATA6 Bryony Thompson Gene: gata6 has been classified as Red List (Low Evidence).
Maturity-onset Diabetes of the Young v1.10 APPL1 Bryony Thompson Deleted their comment
Maturity-onset Diabetes of the Young v1.10 APPL1 Bryony Thompson Marked gene: APPL1 as ready
Maturity-onset Diabetes of the Young v1.10 APPL1 Bryony Thompson Gene: appl1 has been classified as Red List (Low Evidence).
Maturity-onset Diabetes of the Young v1.10 APPL1 Bryony Thompson Publications for gene: APPL1 were set to 26073777
Maturity-onset Diabetes of the Young v1.9 APPL1 Bryony Thompson Classified gene: APPL1 as Red List (low evidence)
Maturity-onset Diabetes of the Young v1.9 APPL1 Bryony Thompson Gene: appl1 has been classified as Red List (Low Evidence).
Maturity-onset Diabetes of the Young v1.8 APPL1 Bryony Thompson edited their review of gene: APPL1: Added comment: PMID: 36208030 - a study using the UK Biobank comparing individuals with and without diabetes found LoF variants in APPL1 were ‘Inconsistent’ with being high penetrant for diabetes (failed both statistical criteria - enrichment & comparison to maximum credible allele frequency). Refutes previous study.; Changed rating: RED; Changed publications: 26073777, 36208030
Maturity-onset Diabetes of the Young v1.8 KLF11 Bryony Thompson Publications for gene: KLF11 were set to
Maturity-onset Diabetes of the Young v1.7 KLF11 Bryony Thompson Classified gene: KLF11 as Red List (low evidence)
Maturity-onset Diabetes of the Young v1.7 KLF11 Bryony Thompson Added comment: Comment on list classification: Association with monogenic diabetes now Refuted Classification - 02/08/2023. ClinGen Monogenic Diabetes GCEP - https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b1e38a49-7c12-4514-a2a1-109e04da146f-2023-02-08T170000.000Z?page=1&size=25&search=
Maturity-onset Diabetes of the Young v1.7 KLF11 Bryony Thompson Gene: klf11 has been classified as Red List (Low Evidence).
Maturity-onset Diabetes of the Young v1.6 SLC19A2 Bryony Thompson Marked gene: SLC19A2 as ready
Maturity-onset Diabetes of the Young v1.6 SLC19A2 Bryony Thompson Gene: slc19a2 has been classified as Red List (Low Evidence).
Maturity-onset Diabetes of the Young v1.6 SLC19A2 Bryony Thompson Classified gene: SLC19A2 as Red List (low evidence)
Maturity-onset Diabetes of the Young v1.6 SLC19A2 Bryony Thompson Gene: slc19a2 has been classified as Red List (Low Evidence).
Maturity-onset Diabetes of the Young v1.5 GATA6 Hali Van Niel gene: GATA6 was added
gene: GATA6 was added to Maturity-onset Diabetes of the Young. Sources: Other
Mode of inheritance for gene: GATA6 was set to Unknown
Publications for gene: GATA6 were set to 27185633
Review for gene: GATA6 was set to RED
Added comment: 1 patient with clinically diagnosed MODY with GATA6 variant
Sources: Other
Maturity-onset Diabetes of the Young v1.5 WFS1 Hali Van Niel gene: WFS1 was added
gene: WFS1 was added to Maturity-onset Diabetes of the Young. Sources: Other
Mode of inheritance for gene: WFS1 was set to Unknown
Publications for gene: WFS1 were set to 27185633
Phenotypes for gene: WFS1 were set to maturity-onset diabetes of the young MONDO:0018911
Review for gene: WFS1 was set to RED
Added comment: 1 patient with clinically established MODY with WFS1 variant
Sources: Other
Maturity-onset Diabetes of the Young v1.5 SLC19A2 Hali Van Niel gene: SLC19A2 was added
gene: SLC19A2 was added to Maturity-onset Diabetes of the Young. Sources: Other
Mode of inheritance for gene: SLC19A2 was set to Unknown
Publications for gene: SLC19A2 were set to 27185633
Phenotypes for gene: SLC19A2 were set to maturity-onset diabetes of the young MONDO:0018911
Review for gene: SLC19A2 was set to RED
Added comment: 1 patient with clinically established MODY with SLC19A2 variant
Sources: Other
Maturity-onset Diabetes of the Young v1.5 CEL Chirag Patel Classified gene: CEL as Green List (high evidence)
Maturity-onset Diabetes of the Young v1.5 CEL Chirag Patel Gene: cel has been classified as Green List (High Evidence).
Maturity-onset Diabetes of the Young v1.4 CEL Chirag Patel Classified gene: CEL as Green List (high evidence)
Maturity-onset Diabetes of the Young v1.4 CEL Chirag Patel Gene: cel has been classified as Green List (High Evidence).
Maturity-onset Diabetes of the Young v1.3 CEL Chirag Patel reviewed gene: CEL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Maturity-onset Diabetes of the Young v1.3 Zornitza Stark HPO terms changed from to Diabetes mellitus, HP:0000819
List of related panels changed from to Diabetes mellitus; HP:0000819
Maturity-onset Diabetes of the Young v1.2 PAX4 Zornitza Stark Mode of inheritance for gene: PAX4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Maturity-onset Diabetes of the Young v1.1 PAX4 Zornitza Stark Classified gene: PAX4 as Red List (low evidence)
Maturity-onset Diabetes of the Young v1.1 PAX4 Zornitza Stark Gene: pax4 has been classified as Red List (Low Evidence).
Maturity-onset Diabetes of the Young v1.0 PAX4 Zornitza Stark Tag refuted tag was added to gene: PAX4.
Maturity-onset Diabetes of the Young v1.0 PAX4 Krithika Murali reviewed gene: PAX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Maturity-onset diabetes of the young, type IX - MIM#612225; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Maturity-onset Diabetes of the Young v1.0 Bryony Thompson promoted panel to version 1.0
Maturity-onset Diabetes of the Young v0.22 CEL Bryony Thompson Publications for gene: CEL were set to
Maturity-onset Diabetes of the Young v0.21 PDX1 Bryony Thompson Marked gene: PDX1 as ready
Maturity-onset Diabetes of the Young v0.21 PDX1 Bryony Thompson Gene: pdx1 has been classified as Green List (High Evidence).
Maturity-onset Diabetes of the Young v0.21 PDX1 Bryony Thompson Phenotypes for gene: PDX1 were changed from Pancreatic agenesis 1 to Pancreatic agenesis 1 - MIM#260370 (AR); MODY, type IV - MIM#606392(AD)
Maturity-onset Diabetes of the Young v0.20 PDX1 Bryony Thompson Publications for gene: PDX1 were set to
Maturity-onset Diabetes of the Young v0.19 PCBD1 Bryony Thompson Marked gene: PCBD1 as ready
Maturity-onset Diabetes of the Young v0.19 PCBD1 Bryony Thompson Gene: pcbd1 has been classified as Green List (High Evidence).
Maturity-onset Diabetes of the Young v0.19 PAX4 Bryony Thompson Marked gene: PAX4 as ready
Maturity-onset Diabetes of the Young v0.19 PAX4 Bryony Thompson Gene: pax4 has been classified as Green List (High Evidence).
Maturity-onset Diabetes of the Young v0.19 PAX4 Bryony Thompson Publications for gene: PAX4 were set to
Maturity-onset Diabetes of the Young v0.18 NEUROD1 Bryony Thompson Marked gene: NEUROD1 as ready
Maturity-onset Diabetes of the Young v0.18 NEUROD1 Bryony Thompson Gene: neurod1 has been classified as Green List (High Evidence).
Maturity-onset Diabetes of the Young v0.18 NEUROD1 Bryony Thompson Publications for gene: NEUROD1 were set to
Maturity-onset Diabetes of the Young v0.17 INS Bryony Thompson Marked gene: INS as ready
Maturity-onset Diabetes of the Young v0.17 INS Bryony Thompson Gene: ins has been classified as Green List (High Evidence).
Maturity-onset Diabetes of the Young v0.17 INS Bryony Thompson Publications for gene: INS were set to
Maturity-onset Diabetes of the Young v0.16 HNF4A Bryony Thompson Marked gene: HNF4A as ready
Maturity-onset Diabetes of the Young v0.16 HNF4A Bryony Thompson Gene: hnf4a has been classified as Green List (High Evidence).
Maturity-onset Diabetes of the Young v0.16 HNF4A Bryony Thompson Publications for gene: HNF4A were set to
Maturity-onset Diabetes of the Young v0.15 HNF1B Bryony Thompson Marked gene: HNF1B as ready
Maturity-onset Diabetes of the Young v0.15 HNF1B Bryony Thompson Gene: hnf1b has been classified as Green List (High Evidence).
Maturity-onset Diabetes of the Young v0.15 HNF1B Bryony Thompson Tag cnv tag was added to gene: HNF1B.
Maturity-onset Diabetes of the Young v0.15 HNF1A Bryony Thompson Marked gene: HNF1A as ready
Maturity-onset Diabetes of the Young v0.15 HNF1A Bryony Thompson Gene: hnf1a has been classified as Green List (High Evidence).
Maturity-onset Diabetes of the Young v0.15 HNF1A Bryony Thompson Publications for gene: HNF1A were set to
Maturity-onset Diabetes of the Young v0.14 ABCC8 Bryony Thompson Marked gene: ABCC8 as ready
Maturity-onset Diabetes of the Young v0.14 ABCC8 Bryony Thompson Gene: abcc8 has been classified as Green List (High Evidence).
Maturity-onset Diabetes of the Young v0.14 ABCC8 Bryony Thompson Publications for gene: ABCC8 were set to
Maturity-onset Diabetes of the Young v0.12 GCK Zornitza Stark Marked gene: GCK as ready
Maturity-onset Diabetes of the Young v0.12 GCK Zornitza Stark Gene: gck has been classified as Green List (High Evidence).
Maturity-onset Diabetes of the Young v0.12 GCK Zornitza Stark Phenotypes for gene: GCK were changed from MODY, type II, 125851; Maturity-onset diabetes of the young (MODY); Transient Neonatal Diabetes, Recessive; Maturity Onset Diabetes of the Young; Maturity Onset Diabetes of the Young (Dominant); Permanent Neonatal Diabetes Mellitus (recessive) to Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853); Diabetes mellitus, permanent neonatal 1, AR (MIM#606176); Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485); MODY, type II, AD (MIM#125851)
Maturity-onset Diabetes of the Young v0.11 GCK Zornitza Stark Publications for gene: GCK were set to
Maturity-onset Diabetes of the Young v0.10 GCK Michelle Torres reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: None; Publications: 19790256; Phenotypes: Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853), Diabetes mellitus, permanent neonatal 1, AR (MIM#606176), Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485), MODY, type II, AD (MIM#125851); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Maturity-onset Diabetes of the Young v0.10 PCBD1 Alison Yeung Classified gene: PCBD1 as Green List (high evidence)
Maturity-onset Diabetes of the Young v0.10 PCBD1 Alison Yeung Gene: pcbd1 has been classified as Green List (High Evidence).
Maturity-onset Diabetes of the Young v0.9 PCBD1 Michelle Torres gene: PCBD1 was added
gene: PCBD1 was added to Maturity-onset Diabetes of the Young. Sources: Literature
Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCBD1 were set to 24848070; 24204001
Phenotypes for gene: PCBD1 were set to MODY
Review for gene: PCBD1 was set to GREEN
Added comment: PMID: 24848070: one consanguineous family with early-onset nonautoimmune diabetes. The individual with early onset is biallelic, and 3 other carriers had later onset diabetes. In addition, 3 other patients with mild neonatal hyperphenylalaninemia with features similar to dominantly inherited HNF1A-diabetes.

PMID: 24204001: 2 out 3 patients with hypomagnesemia and renal magnesium wasting associated to biallelic PCBD1 variants developed MODY
Sources: Literature
Maturity-onset Diabetes of the Young v0.9 Bryony Thompson Panel types changed to Royal Melbourne Hospital; Rare Disease
Maturity-onset Diabetes of the Young v0.8 CEL Bryony Thompson Marked gene: CEL as ready
Maturity-onset Diabetes of the Young v0.8 CEL Bryony Thompson Gene: cel has been classified as Amber List (Moderate Evidence).
Maturity-onset Diabetes of the Young v0.8 CEL Bryony Thompson Classified gene: CEL as Amber List (moderate evidence)
Maturity-onset Diabetes of the Young v0.8 CEL Bryony Thompson Gene: cel has been classified as Amber List (Moderate Evidence).
Maturity-onset Diabetes of the Young v0.7 RFX6 Bryony Thompson Marked gene: RFX6 as ready
Maturity-onset Diabetes of the Young v0.7 RFX6 Bryony Thompson Gene: rfx6 has been classified as Green List (High Evidence).
Maturity-onset Diabetes of the Young v0.7 RFX6 Bryony Thompson Classified gene: RFX6 as Green List (high evidence)
Maturity-onset Diabetes of the Young v0.7 RFX6 Bryony Thompson Gene: rfx6 has been classified as Green List (High Evidence).
Maturity-onset Diabetes of the Young v0.6 RFX6 Bryony Thompson gene: RFX6 was added
gene: RFX6 was added to Maturity-onset Diabetes of the Young. Sources: Expert list
Mode of inheritance for gene: RFX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RFX6 were set to 20148032; 25048417; 27185633; 29026101; 31001871
Phenotypes for gene: RFX6 were set to Maturity-onset diabetes of the young
Review for gene: RFX6 was set to GREEN
Added comment: At least 3 unrelated cases with heterozygous variants and a suspected diagnosis of MODY. Null mouse model demonstrates abnormal pancreatic islet cells.
Sources: Expert list
Maturity-onset Diabetes of the Young v0.5 CEL Zornitza Stark reviewed gene: CEL: Rating: AMBER; Mode of pathogenicity: None; Publications: 24062244, 21784842, 19760265, 18544793, 17989309, 16369531, 29233499, 27650499; Phenotypes: Maturity-onset diabetes of the young, type VIII; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Maturity-onset Diabetes of the Young v0.4 PAX4 Bryony Thompson reviewed gene: PAX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17426099, 14561778, 25951767, 21263211; Phenotypes: Maturity-onset diabetes of the young, type IX MIM#612225; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Maturity-onset Diabetes of the Young v0.4 KLF11 Bryony Thompson Marked gene: KLF11 as ready
Maturity-onset Diabetes of the Young v0.4 KLF11 Bryony Thompson Gene: klf11 has been classified as Amber List (Moderate Evidence).
Maturity-onset Diabetes of the Young v0.4 KLF11 Bryony Thompson Classified gene: KLF11 as Amber List (moderate evidence)
Maturity-onset Diabetes of the Young v0.4 KLF11 Bryony Thompson Gene: klf11 has been classified as Amber List (Moderate Evidence).
Maturity-onset Diabetes of the Young v0.3 KLF11 Bryony Thompson reviewed gene: KLF11: Rating: AMBER; Mode of pathogenicity: None; Publications: 15774581, 26248217, 23589285, 31124255; Phenotypes: Maturity-onset diabetes of the young, type VII MIM#610508; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Maturity-onset Diabetes of the Young v0.3 BLK Bryony Thompson Classified gene: BLK as Red List (low evidence)
Maturity-onset Diabetes of the Young v0.3 BLK Bryony Thompson Gene: blk has been classified as Red List (Low Evidence).
Maturity-onset Diabetes of the Young v0.2 BLK Bryony Thompson reviewed gene: BLK: Rating: RED; Mode of pathogenicity: None; Publications: 19667185, 23224494, 28095440; Phenotypes: Maturity-onset diabetes of the young, type 11 MIM#613375; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Maturity-onset Diabetes of the Young v0.2 APPL1 Bryony Thompson Classified gene: APPL1 as Amber List (moderate evidence)
Maturity-onset Diabetes of the Young v0.2 APPL1 Bryony Thompson Added comment: Comment on list classification: A gene to watch
Maturity-onset Diabetes of the Young v0.2 APPL1 Bryony Thompson Gene: appl1 has been classified as Amber List (Moderate Evidence).
Maturity-onset Diabetes of the Young v0.1 APPL1 Bryony Thompson edited their review of gene: APPL1: Changed rating: AMBER
Maturity-onset Diabetes of the Young v0.1 APPL1 Bryony Thompson reviewed gene: APPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26073777; Phenotypes: Maturity-onset diabetes of the young, type 14 MIM#616511; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Maturity-onset Diabetes of the Young v0.1 Bryony Thompson Panel name changed from Maturity-onset Diabetes of the Young_RMH to Maturity-onset Diabetes of the Young
Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital
Maturity-onset Diabetes of the Young v0.0 PDX1 Bryony Thompson gene: PDX1 was added
gene: PDX1 was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDX1 were set to Pancreatic agenesis 1
Maturity-onset Diabetes of the Young v0.0 PAX4 Bryony Thompson gene: PAX4 was added
gene: PAX4 was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
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; Maturity-onset diabetes of the young, type IX, 612225
Maturity-onset Diabetes of the Young v0.0 NEUROD1 Bryony Thompson gene: NEUROD1 was added
gene: NEUROD1 was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NEUROD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: NEUROD1 were set to Maturity Onset Diabetes of the Young; {Diabetes mellitus, noninsulin-dependent}, 125853
Maturity-onset Diabetes of the Young v0.0 KLF11 Bryony Thompson gene: KLF11 was added
gene: KLF11 was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
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; Maturity-onset diabetes of the young, type VII, 610508
Maturity-onset Diabetes of the Young v0.0 KCNJ11 Bryony Thompson gene: KCNJ11 was added
gene: KCNJ11 was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
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
Maturity-onset Diabetes of the Young v0.0 INS Bryony Thompson gene: INS was added
gene: INS was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: INS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: INS were set to Maturity Onset Diabetes of the Young (Dominant); Maturity Onset Diabetes of the Young; Transient Neonatal Diabetes, Dominant/Recessive; Hyperproinsulinemia, familial, with or without diabetes
Maturity-onset Diabetes of the Young v0.0 HNF4A Bryony Thompson gene: HNF4A was added
gene: HNF4A was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF4A were set to Maturity Onset Diabetes of the Young; MODY, type I, 125850; OMIM 616026
Maturity-onset Diabetes of the Young v0.0 HNF1B Bryony Thompson gene: HNF1B was added
gene: HNF1B was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
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
Maturity-onset Diabetes of the Young v0.0 HNF1A Bryony Thompson gene: HNF1A was added
gene: HNF1A was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF1A were set to Maturity Onset Diabetes of the Young; 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 v0.0 GCK Bryony Thompson gene: GCK was added
gene: GCK was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
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 MODY, type II, 125851; Maturity-onset diabetes of the young (MODY); Transient Neonatal Diabetes, Recessive; Maturity Onset Diabetes of the Young; Maturity Onset Diabetes of the Young (Dominant); Permanent Neonatal Diabetes Mellitus (recessive)
Maturity-onset Diabetes of the Young v0.0 CEL Bryony Thompson gene: CEL was added
gene: CEL was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CEL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CEL were set to Maturity-onset diabetes of the young, type VIII, 609812
Maturity-onset Diabetes of the Young v0.0 BLK Bryony Thompson gene: BLK was added
gene: BLK was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
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; Maturity-onset diabetes of the young, type 11, 613375
Maturity-onset Diabetes of the Young v0.0 APPL1 Bryony Thompson gene: APPL1 was added
gene: APPL1 was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: APPL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: APPL1 were set to 26073777
Phenotypes for gene: APPL1 were set to {Maturity-onset diabetes of the young, type 14}, 616511
Maturity-onset Diabetes of the Young v0.0 ABCC8 Bryony Thompson gene: ABCC8 was added
gene: ABCC8 was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ABCC8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ABCC8 were set to Diabetes mellitus, permanent neonatal, 6; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Transient Neonatal Diabetes, Dominant; Hypoglycemia of infancy, leucine-sensitive, 240800; Permanent Neonatal Diabetes Mellitus (recessive); Diabetes mellitus, transient neonatal 2, 610374; Diabetes mellitus, noninsulin-dependent, 125853; Permanent Neonatal Diabetes Mellitus
Maturity-onset Diabetes of the Young v0.0 Bryony Thompson Added panel Maturity-onset Diabetes of the Young_RMH