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Hyperinsulinism v1.16 EP300 Chirag Patel Classified gene: EP300 as Green List (high evidence)
Hyperinsulinism v1.16 EP300 Chirag Patel Gene: ep300 has been classified as Green List (High Evidence).
Hyperinsulinism v1.15 CREBBP Chirag Patel Classified gene: CREBBP as Green List (high evidence)
Hyperinsulinism v1.15 CREBBP Chirag Patel Gene: crebbp has been classified as Green List (High Evidence).
Hyperinsulinism v1.14 CREBBP Chirag Patel gene: CREBBP was added
gene: CREBBP was added to Hyperinsulinism. Sources: Literature
Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CREBBP were set to PMID: 31137009, 33442921, 2240025, 31414570, 33043588
Phenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome 1, OMIM #180849
Review for gene: CREBBP was set to GREEN
gene: CREBBP was marked as current diagnostic
Added comment: Established gene-disease association.
Hyperinsulinaemic hypoglycaemia reported in less than 5%.
Sources: Literature
Hyperinsulinism v1.14 EP300 Chirag Patel gene: EP300 was added
gene: EP300 was added to Hyperinsulinism. Sources: Literature
Mode of inheritance for gene: EP300 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EP300 were set to PMID: 31137009, 33442921, 2240025, 31414570, 33043588
Phenotypes for gene: EP300 were set to Rubinstein-Taybi syndrome 2, OMIM #613684
Review for gene: EP300 was set to GREEN
gene: EP300 was marked as current diagnostic
Added comment: Established gene-disease association.
Hyperinsulinaemic hypoglycaemia reported in less than 5%.
Sources: Literature
Hyperinsulinism v1.13 Chirag Patel Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Royal Melbourne Hospital; Rare Disease
Hyperinsulinism v1.12 CACNA1D Chirag Patel Classified gene: CACNA1D as Amber List (moderate evidence)
Hyperinsulinism v1.12 CACNA1D Chirag Patel Gene: cacna1d has been classified as Amber List (Moderate Evidence).
Hyperinsulinism v1.11 CACNA1D Chirag Patel reviewed gene: CACNA1D: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32336187; Phenotypes: congenital hyperinsulinism, primary hyperaldosteronism, and neurologic abnormalities; Mode of inheritance: None
Hyperinsulinism v1.11 UCP2 Chirag Patel reviewed gene: UCP2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 27967291, 23275527, 19065272, 28681398; Phenotypes: congenital hyperinsulinism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hyperinsulinism v1.11 PGM1 Chirag Patel Classified gene: PGM1 as Green List (high evidence)
Hyperinsulinism v1.11 PGM1 Chirag Patel Gene: pgm1 has been classified as Green List (High Evidence).
Hyperinsulinism v1.10 PGM1 Chirag Patel gene: PGM1 was added
gene: PGM1 was added to Hyperinsulinism. Sources: Literature
Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGM1 were set to PMID: 24499211, 27206562
Phenotypes for gene: PGM1 were set to Congenital disorder of glycosylation, type It, OMIM# 614921
Review for gene: PGM1 was set to GREEN
gene: PGM1 was marked as current diagnostic
Added comment: Well established gene-disease association. Individuals can present with hypoglycaemia (+/- hyperinsulinism) and may not have all the syndromic features at presentation.
Sources: Literature
Hyperinsulinism v1.9 GLUD1 Zornitza Stark Mode of inheritance for gene: GLUD1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hyperinsulinism v1.8 GLUD1 Zornitza Stark edited their review of gene: GLUD1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hyperinsulinism v1.8 SLC25A36 Zornitza Stark Marked gene: SLC25A36 as ready
Hyperinsulinism v1.8 SLC25A36 Zornitza Stark Gene: slc25a36 has been classified as Green List (High Evidence).
Hyperinsulinism v1.8 SLC25A36 Zornitza Stark Classified gene: SLC25A36 as Green List (high evidence)
Hyperinsulinism v1.8 SLC25A36 Zornitza Stark Gene: slc25a36 has been classified as Green List (High Evidence).
Hyperinsulinism v1.7 SLC25A36 Krithika Murali gene: SLC25A36 was added
gene: SLC25A36 was added to Hyperinsulinism. Sources: Literature
Mode of inheritance for gene: SLC25A36 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A36 were set to 34971397; 34576089; 31036718
Phenotypes for gene: SLC25A36 were set to Hyperinsulinemic hypoglycemia, familial, 8 - MIM#620211
Review for gene: SLC25A36 was set to GREEN
Added comment: Solute carrier family 25 members 33 (SLC25A33) and 36 (SLC25A36) are the only known mitochondrial pyrimidine nucleotide carriers in humans

PMID: 34971397 Sharoor et al 2022 report 2 siblings with hyperinsulinism, hypoglycemia and hyperammonemia from early infancy with homozygous SLC25A36 c.284 + 3 A > T variant identified through WES. Functional studies support LoF.

PMID: 34576089 report a 12-year-old patient with hypothyroidism, hyperinsulinism, hyperammonemia, chronical obstipation, short stature, along with language and general developmental delay. WES identified SLC25A36 gene homozygous c.803dupT, p.Ser269llefs*35 variant. Functional analysis of mutant SLC25A36 protein in proteoliposomes showed a virtually abolished transport activity. Immunoblotting results suggest that the mutant SLC25A36 protein in the patient undergoes fast degradation. Supplementation with uridine lead to some improvement in clinical course.

PMID: 31036718 deficiencies in SLC25A36 in mouse embryonic stem cells have been associated with mtDNA depletion as well as mitochondrial dysfunction
Sources: Literature
Hyperinsulinism v1.7 Zornitza Stark HPO terms changed from to Hyperinsulinaemia, HP:0000842;Hypoglycemia, HP:0001943
List of related panels changed from to Hyperinsulinaemia; HP:0000842;Hypoglycemia; HP:0001943
Hyperinsulinism v1.6 MPI Zornitza Stark Publications for gene: MPI were set to PMID: 29531722; 0980531
Hyperinsulinism v1.5 MPI Zornitza Stark Classified gene: MPI as Green List (high evidence)
Hyperinsulinism v1.5 MPI Zornitza Stark Gene: mpi has been classified as Green List (High Evidence).
Hyperinsulinism v1.3 HK1 Zornitza Stark Tag deep intronic tag was added to gene: HK1.
Hyperinsulinism v1.3 HK1 Zornitza Stark Phenotypes for gene: HK1 were changed from Hyperinsulinaemia to Hyperinsulinism MONDO:0002177, HK1-related
Hyperinsulinism v1.2 HK1 Zornitza Stark Publications for gene: HK1 were set to 23859901
Hyperinsulinism v1.1 HK1 Zornitza Stark Classified gene: HK1 as Green List (high evidence)
Hyperinsulinism v1.1 HK1 Zornitza Stark Gene: hk1 has been classified as Green List (High Evidence).
Hyperinsulinism v1.0 HK1 Zornitza Stark changed review comment from: 14 non-coding de novo variants affecting a 42-bp conserved region encompassed by a regulatory element in intron 2 of the hexokinase 1 gene (HK1) identified.; to: 14 non-coding de novo variants affecting a 42-bp conserved region encompassed by a regulatory element in intron 2 of the hexokinase 1 gene (HK1) identified in individuals with hyperinsulinism.
Hyperinsulinism v1.0 HK1 Zornitza Stark edited their review of gene: HK1: Added comment: 14 non-coding de novo variants affecting a 42-bp conserved region encompassed by a regulatory element in intron 2 of the hexokinase 1 gene (HK1) identified.; Changed publications: 36333503; Changed phenotypes: Hyperinsulinism MONDO:0002177, HK1-related; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hyperinsulinism v1.0 Bryony Thompson promoted panel to version 1.0
Hyperinsulinism v0.53 SLC16A1 Bryony Thompson Marked gene: SLC16A1 as ready
Hyperinsulinism v0.53 SLC16A1 Bryony Thompson Gene: slc16a1 has been classified as Green List (High Evidence).
Hyperinsulinism v0.53 SLC16A1 Bryony Thompson Phenotypes for gene: SLC16A1 were changed from to Erythrocyte lactate transporter defect, MIM# 245340; Hyperinsulinemic hypoglycaemia, familial, 7, MIM# 610021; Monocarboxylate transporter 1 deficiency, MIM# 616095
Hyperinsulinism v0.52 SLC16A1 Bryony Thompson Publications for gene: SLC16A1 were set to
Hyperinsulinism v0.51 SLC16A1 Bryony Thompson Mode of inheritance for gene: SLC16A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hyperinsulinism v0.50 KCNJ11 Bryony Thompson Marked gene: KCNJ11 as ready
Hyperinsulinism v0.50 KCNJ11 Bryony Thompson Gene: kcnj11 has been classified as Green List (High Evidence).
Hyperinsulinism v0.50 KCNJ11 Bryony Thompson Phenotypes for gene: KCNJ11 were changed from to {Diabetes mellitus, type 2, susceptibility to} 125853; Diabetes mellitus, transient neonatal, 3 610582; Diabetes, permanent neonatal, with or without neurologic features 606176; Hyperinsulinemic hypoglycemia, familial, 2 601820; Maturity-onset diabetes of the young, type 13 616329 AD
Hyperinsulinism v0.49 KCNJ11 Bryony Thompson Publications for gene: KCNJ11 were set to
Hyperinsulinism v0.48 KCNJ11 Bryony Thompson Mode of inheritance for gene: KCNJ11 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hyperinsulinism v0.47 HNF4A Bryony Thompson Marked gene: HNF4A as ready
Hyperinsulinism v0.47 HNF4A Bryony Thompson Gene: hnf4a has been classified as Green List (High Evidence).
Hyperinsulinism v0.47 HNF4A Bryony Thompson Phenotypes for gene: HNF4A were changed from to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026; MODY, type I, OMIM # 125850
Hyperinsulinism v0.46 HNF4A Bryony Thompson Publications for gene: HNF4A were set to
Hyperinsulinism v0.45 HNF4A Bryony Thompson Mode of inheritance for gene: HNF4A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hyperinsulinism v0.44 HNF1A Bryony Thompson Marked gene: HNF1A as ready
Hyperinsulinism v0.44 HNF1A Bryony Thompson Gene: hnf1a has been classified as Green List (High Evidence).
Hyperinsulinism v0.44 HNF1A Bryony Thompson Phenotypes for gene: HNF1A were changed from to Diabetes mellitus, insulin-dependent, 20, MIM# 612520; MODY, type III , MIM#600496
Hyperinsulinism v0.43 HNF1A Bryony Thompson Publications for gene: HNF1A were set to
Hyperinsulinism v0.42 HNF1A Bryony Thompson Mode of inheritance for gene: HNF1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hyperinsulinism v0.41 HADH Bryony Thompson Marked gene: HADH as ready
Hyperinsulinism v0.41 HADH Bryony Thompson Gene: hadh has been classified as Green List (High Evidence).
Hyperinsulinism v0.41 HADH Bryony Thompson Phenotypes for gene: HADH were changed from to 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530; Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975
Hyperinsulinism v0.40 HADH Bryony Thompson Mode of inheritance for gene: HADH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hyperinsulinism v0.39 GLUD1 Bryony Thompson Marked gene: GLUD1 as ready
Hyperinsulinism v0.39 GLUD1 Bryony Thompson Gene: glud1 has been classified as Green List (High Evidence).
Hyperinsulinism v0.39 GLUD1 Bryony Thompson Phenotypes for gene: GLUD1 were changed from to Hyperinsulinism-hyperammonemia syndrome, MIM# 606762
Hyperinsulinism v0.38 GLUD1 Bryony Thompson Publications for gene: GLUD1 were set to
Hyperinsulinism v0.37 GLUD1 Bryony Thompson Mode of inheritance for gene: GLUD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hyperinsulinism v0.36 ABCC8 Bryony Thompson Marked gene: ABCC8 as ready
Hyperinsulinism v0.36 ABCC8 Bryony Thompson Gene: abcc8 has been classified as Green List (High Evidence).
Hyperinsulinism v0.36 ABCC8 Bryony Thompson Phenotypes for gene: ABCC8 were changed from to Diabetes mellitus, noninsulin-dependent MIM#125853; Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857; Diabetes mellitus, transient neonatal 2 MIM#610374; Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450; Hypoglycemia of infancy, leucine-sensitive MIM#240800
Hyperinsulinism v0.35 ABCC8 Bryony Thompson Publications for gene: ABCC8 were set to
Hyperinsulinism v0.34 ABCC8 Bryony Thompson Mode of inheritance for gene: ABCC8 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hyperinsulinism v0.32 PMM2 Zornitza Stark edited their review of gene: PMM2: Added comment: Cabezas et al (2017) reported co-occurrence of hyperinsulinaemic hypoglycaemia and polycystic kidney disease (HIPKD in 17 children from 11 unrelated families. Patients presented with hyperinsulinaemic hypoglycaemia in infancy and enlarged kidneys with multiple kidney cysts. Some progressed to ESKD and some had liver cysts. Whole-genome linkage analysis in 5 informative families identified a single significant locus on chromosome 16p13.2. Sequencing of the coding regions of all linked genes failed to identify biallelic mutations. Instead, they found in all patients a promoter mutation (c.-167G>T) in PMM2, either homozygous or in trans with PMM2 coding mutations. They found deglycosylation in cultured pancreatic β cells altered insulin secretion. In vitro, the PMM2 promoter mutation associated with decreased transcriptional activity in patient kidney cells and impaired binding of the transcription factor ZNF143. In silico analysis suggested an important role of ZNF143 for the formation of a chromatin loop including PMM2. They proposed that the PMM2 promoter mutation alters tissue-specific chromatin loop formation, with consequent organ-specific deficiency of PMM2 leading to the restricted phenotype of HIPKD.

None of the patients exhibited the typical clinical or diagnostic features of CDG1A. Serum transferrin glycosylation was normal in 11 patients who had assessment.; Changed phenotypes: Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease (HIPKD), MONDO:0020642, PMM2-related; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperinsulinism v0.32 PMM2 Zornitza Stark reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hyperinsulinism v0.32 GCK Zornitza Stark Marked gene: GCK as ready
Hyperinsulinism v0.32 GCK Zornitza Stark Gene: gck has been classified as Green List (High Evidence).
Hyperinsulinism v0.32 GCK Zornitza Stark Phenotypes for gene: GCK were changed from 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)
Hyperinsulinism v0.31 GCK Zornitza Stark Publications for gene: GCK were set to
Hyperinsulinism v0.30 GCK Zornitza Stark Mode of inheritance for gene: GCK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hyperinsulinism v0.29 GCK Chirag Patel reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19790256; Phenotypes: Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853), Diabetes mellitus, permanent neonatal 1, AR (MIM#606176), Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485), MODY, type II, AD (MIM#125851); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hyperinsulinism v0.29 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Hyperinsulinism v0.28 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital
Hyperinsulinism v0.27 TRMT10A Zornitza Stark Classified gene: TRMT10A as Amber List (moderate evidence)
Hyperinsulinism v0.27 TRMT10A Zornitza Stark Gene: trmt10a has been classified as Amber List (Moderate Evidence).
Hyperinsulinism v0.26 TRMT10A Zornitza Stark changed review comment from: Hyperinsulinaemia reported in some individuals with this condition.
Sources: Expert list; to: Hyperinsulinaemia reported in some individuals with this condition ?one family.
Sources: Expert list
Hyperinsulinism v0.26 TRMT10A Zornitza Stark edited their review of gene: TRMT10A: Changed rating: AMBER
Hyperinsulinism v0.26 TRMT10A Zornitza Stark edited their review of gene: TRMT10A: Changed publications: 25053765; Changed phenotypes: Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033
Hyperinsulinism v0.26 MEN1 Zornitza Stark Phenotypes for gene: MEN1 were changed from Insulinoma to Insulinoma; Multiple endocrine neoplasia 1, MIM# 131100
Hyperinsulinism v0.25 MEN1 Zornitza Stark reviewed gene: MEN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple endocrine neoplasia 1, MIM# 131100; Mode of inheritance: None
Hyperinsulinism v0.25 EIF2S3 Zornitza Stark Marked gene: EIF2S3 as ready
Hyperinsulinism v0.25 EIF2S3 Zornitza Stark Gene: eif2s3 has been classified as Red List (Low Evidence).
Hyperinsulinism v0.25 EIF2S3 Zornitza Stark Phenotypes for gene: EIF2S3 were changed from to MEHMO syndrome, MIM# 300148
Hyperinsulinism v0.24 EIF2S3 Zornitza Stark Mode of inheritance for gene: EIF2S3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hyperinsulinism v0.23 EIF2S3 Zornitza Stark Classified gene: EIF2S3 as Red List (low evidence)
Hyperinsulinism v0.23 EIF2S3 Zornitza Stark Gene: eif2s3 has been classified as Red List (Low Evidence).
Hyperinsulinism v0.22 EIF2S3 Zornitza Stark reviewed gene: EIF2S3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: MEHMO syndrome, MIM# 300148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hyperinsulinism v0.22 CACNA1D Zornitza Stark Marked gene: CACNA1D as ready
Hyperinsulinism v0.22 CACNA1D Zornitza Stark Gene: cacna1d has been classified as Red List (Low Evidence).
Hyperinsulinism v0.22 CACNA1D Zornitza Stark gene: CACNA1D was added
gene: CACNA1D was added to Hyperinsulinism. Sources: Expert list
Mode of inheritance for gene: CACNA1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1D were set to 28318089; 23913001
Phenotypes for gene: CACNA1D were set to Hyperinsulinism; heart defect; hypotonia
Mode of pathogenicity for gene: CACNA1D was set to Other
Review for gene: CACNA1D was set to RED
Added comment: GoF de novo variant reported in infant with persistent hyperinsulinaemia, congenital heart disease and hypotonia. Same variant reported in another individual with some overlapping features and transient hypoglycaemia in the newborn period; however, hyperinsulinaemia not confirmed in this other individual.
Sources: Expert list
Hyperinsulinism v0.21 MPI Zornitza Stark Marked gene: MPI as ready
Hyperinsulinism v0.21 MPI Zornitza Stark Gene: mpi has been classified as Red List (Low Evidence).
Hyperinsulinism v0.21 MPI Zornitza Stark Classified gene: MPI as Red List (low evidence)
Hyperinsulinism v0.21 MPI Zornitza Stark Gene: mpi has been classified as Red List (Low Evidence).
Hyperinsulinism v0.20 MPI Michelle de Silva gene: MPI was added
gene: MPI was added to Hyperinsulinism. Sources: Expert Review
Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPI were set to PMID: 29531722; 0980531
Phenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib, MIM# 602579
Review for gene: MPI was set to AMBER
Added comment: There seems to be only one reported case of an infant with hyperinsulinaemic hypoglycaemia where there is molecular association with the MPI gene (PMID: 29531722).
Variants in MPI are shown to cause MPI-CDG (CDG-Ib; PMID: 0980531) and hypoglycaemia is a feature of MPI-CDG.
Sources: Expert Review
Hyperinsulinism v0.20 MEN1 Zornitza Stark Marked gene: MEN1 as ready
Hyperinsulinism v0.20 MEN1 Zornitza Stark Gene: men1 has been classified as Green List (High Evidence).
Hyperinsulinism v0.20 MEN1 Zornitza Stark Classified gene: MEN1 as Green List (high evidence)
Hyperinsulinism v0.20 MEN1 Zornitza Stark Gene: men1 has been classified as Green List (High Evidence).
Hyperinsulinism v0.19 MEN1 Chloe Stutterd gene: MEN1 was added
gene: MEN1 was added to Hyperinsulinism. Sources: Expert Review
Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MEN1 were set to 20301710
Phenotypes for gene: MEN1 were set to Insulinoma
Review for gene: MEN1 was set to GREEN
Added comment: Sources: Expert Review
Hyperinsulinism v0.19 PMM2 Zornitza Stark Marked gene: PMM2 as ready
Hyperinsulinism v0.19 PMM2 Zornitza Stark Gene: pmm2 has been classified as Green List (High Evidence).
Hyperinsulinism v0.19 PMM2 Zornitza Stark Tag 5'UTR tag was added to gene: PMM2.
Hyperinsulinism v0.19 PMM2 Zornitza Stark Classified gene: PMM2 as Green List (high evidence)
Hyperinsulinism v0.19 PMM2 Zornitza Stark Gene: pmm2 has been classified as Green List (High Evidence).
Hyperinsulinism v0.18 UCP2 Zornitza Stark Marked gene: UCP2 as ready
Hyperinsulinism v0.18 UCP2 Zornitza Stark Gene: ucp2 has been classified as Amber List (Moderate Evidence).
Hyperinsulinism v0.18 UCP2 Zornitza Stark Phenotypes for gene: UCP2 were changed from to Hyperinsulinism
Hyperinsulinism v0.17 UCP2 Zornitza Stark Publications for gene: UCP2 were set to
Hyperinsulinism v0.16 UCP2 Zornitza Stark Mode of inheritance for gene: UCP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hyperinsulinism v0.15 UCP2 Zornitza Stark Classified gene: UCP2 as Amber List (moderate evidence)
Hyperinsulinism v0.15 UCP2 Zornitza Stark Gene: ucp2 has been classified as Amber List (Moderate Evidence).
Hyperinsulinism v0.14 UCP2 Zornitza Stark reviewed gene: UCP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 19065272; Phenotypes: Hyperinsulinism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hyperinsulinism v0.14 PMM2 Anna Le Fevre gene: PMM2 was added
gene: PMM2 was added to Hyperinsulinism. Sources: Expert Review
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMM2 were set to PMID: 28373276
Phenotypes for gene: PMM2 were set to Polycystic Kidney Disease; Hyperinsulinemic Hypoglycemia
Penetrance for gene: PMM2 were set to unknown
Mode of pathogenicity for gene: PMM2 was set to Other
Added comment: All patients had a promoter mutation (c.-167G>T) in the phosphomannomutase 2 gene (PMM2), either homozygous or in trans with PMM2 coding mutations.
Sources: Expert Review
Hyperinsulinism v0.14 TRMT10A Zornitza Stark Marked gene: TRMT10A as ready
Hyperinsulinism v0.14 TRMT10A Zornitza Stark Gene: trmt10a has been classified as Green List (High Evidence).
Hyperinsulinism v0.14 TRMT10A Zornitza Stark Classified gene: TRMT10A as Green List (high evidence)
Hyperinsulinism v0.14 TRMT10A Zornitza Stark Gene: trmt10a has been classified as Green List (High Evidence).
Hyperinsulinism v0.13 TRMT10A Zornitza Stark gene: TRMT10A was added
gene: TRMT10A was added to Hyperinsulinism. Sources: Expert list
Mode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMT10A were set to Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033
Review for gene: TRMT10A was set to GREEN
Added comment: Hyperinsulinaemia reported in some individuals with this condition.
Sources: Expert list
Hyperinsulinism v0.12 NSD1 Zornitza Stark Marked gene: NSD1 as ready
Hyperinsulinism v0.12 NSD1 Zornitza Stark Gene: nsd1 has been classified as Green List (High Evidence).
Hyperinsulinism v0.12 NSD1 Zornitza Stark Classified gene: NSD1 as Green List (high evidence)
Hyperinsulinism v0.12 NSD1 Zornitza Stark Gene: nsd1 has been classified as Green List (High Evidence).
Hyperinsulinism v0.11 FOXA2 Zornitza Stark Marked gene: FOXA2 as ready
Hyperinsulinism v0.11 FOXA2 Zornitza Stark Gene: foxa2 has been classified as Green List (High Evidence).
Hyperinsulinism v0.11 FOXA2 Zornitza Stark Classified gene: FOXA2 as Green List (high evidence)
Hyperinsulinism v0.11 FOXA2 Zornitza Stark Gene: foxa2 has been classified as Green List (High Evidence).
Hyperinsulinism v0.10 FOXA2 Zornitza Stark gene: FOXA2 was added
gene: FOXA2 was added to Hyperinsulinism. Sources: Expert list
Mode of inheritance for gene: FOXA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXA2 were set to 29329447; 28973288; 11445544
Phenotypes for gene: FOXA2 were set to Hyperinsulinaemia
Review for gene: FOXA2 was set to GREEN
Added comment: At least two families reported and functional data.
Sources: Expert list
Hyperinsulinism v0.9 NSD1 Chloe Stutterd gene: NSD1 was added
gene: NSD1 was added to Hyperinsulinism. Sources: Literature
Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NSD1 were set to 30719864
Phenotypes for gene: NSD1 were set to Sotos syndrome (OMIM#117550)
Review for gene: NSD1 was set to GREEN
Added comment: Cohort of nine patients with hyperinsulinism, persistent in 3 of 9.
Sources: Literature
Hyperinsulinism v0.9 KMT2D Zornitza Stark Marked gene: KMT2D as ready
Hyperinsulinism v0.9 KMT2D Zornitza Stark Gene: kmt2d has been classified as Green List (High Evidence).
Hyperinsulinism v0.9 KMT2D Zornitza Stark Phenotypes for gene: KMT2D were changed from to Kabuki syndrome 1, MIM# 147920
Hyperinsulinism v0.8 KMT2D Zornitza Stark Classified gene: KMT2D as Green List (high evidence)
Hyperinsulinism v0.8 KMT2D Zornitza Stark Gene: kmt2d has been classified as Green List (High Evidence).
Hyperinsulinism v0.7 KMT2D Chloe Stutterd gene: KMT2D was added
gene: KMT2D was added to Hyperinsulinism. Sources: Expert Review
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2D were set to 29907798
Review for gene: KMT2D was set to GREEN
Added comment: Hyperinsulinism is a presenting feature of Kabuki syndrome in the neonatal period.
Sources: Expert Review
Hyperinsulinism v0.7 HK1 Zornitza Stark Marked gene: HK1 as ready
Hyperinsulinism v0.7 HK1 Zornitza Stark Gene: hk1 has been classified as Red List (Low Evidence).
Hyperinsulinism v0.7 HK1 Zornitza Stark Phenotypes for gene: HK1 were changed from to Hyperinsulinaemia
Hyperinsulinism v0.6 HK1 Zornitza Stark Classified gene: HK1 as Red List (low evidence)
Hyperinsulinism v0.6 HK1 Zornitza Stark Gene: hk1 has been classified as Red List (Low Evidence).
Hyperinsulinism v0.5 KDM6A Zornitza Stark Marked gene: KDM6A as ready
Hyperinsulinism v0.5 KDM6A Zornitza Stark Gene: kdm6a has been classified as Green List (High Evidence).
Hyperinsulinism v0.5 KDM6A Zornitza Stark Classified gene: KDM6A as Green List (high evidence)
Hyperinsulinism v0.5 KDM6A Zornitza Stark Gene: kdm6a has been classified as Green List (High Evidence).
Hyperinsulinism v0.4 KDM6A Zornitza Stark gene: KDM6A was added
gene: KDM6A was added to Hyperinsulinism. Sources: Expert list
Mode of inheritance for gene: KDM6A was set to Other
Phenotypes for gene: KDM6A were set to Kabuki syndrome 2, MIM# 300867
Review for gene: KDM6A was set to GREEN
Added comment: Hyperinsulinism is a presenting feature of Kabuki syndrome in the neonatal period.
Sources: Expert list
Hyperinsulinism v0.3 HK1 Chloe Stutterd gene: HK1 was added
gene: HK1 was added to Hyperinsulinism. Sources: Expert Review
Mode of inheritance for gene: HK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HK1 were set to 23859901
Review for gene: HK1 was set to RED
Added comment: Single family with hyperinsulinism.
Bi-allelic variants cause haemolytic anaemia, motor and sensory neuropathy.
Mono-allelic variants cause retinitis pigmentosa and neurodevelopmental syndrome.
Sources: Expert Review
Hyperinsulinism v0.3 INSR Zornitza Stark Marked gene: INSR as ready
Hyperinsulinism v0.3 INSR Zornitza Stark Gene: insr has been classified as Green List (High Evidence).
Hyperinsulinism v0.3 INSR Zornitza Stark Classified gene: INSR as Green List (high evidence)
Hyperinsulinism v0.3 INSR Zornitza Stark Gene: insr has been classified as Green List (High Evidence).
Hyperinsulinism v0.2 INSR Zornitza Stark gene: INSR was added
gene: INSR was added to Hyperinsulinism. Sources: Expert Review
Mode of inheritance for gene: INSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: INSR were set to 15161766; 26691667; 31989990
Phenotypes for gene: INSR were set to Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968
Review for gene: INSR was set to GREEN
Added comment: Monoallelic variants cause hyperinsulinaemic hypoglycaemia; only one family reported with bi-allelic variants and atypical presentation of Rabson-Mendenhall syndrome.
Sources: Expert Review
Hyperinsulinism v0.1 Zornitza Stark Panel name changed from Hyperinsulinism_VCGS to Hyperinsulinism
Panel types changed to Victorian Clinical Genetics Services
Hyperinsulinism v0.0 UCP2 Zornitza Stark gene: UCP2 was added
gene: UCP2 was added to Hyperinsulinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UCP2 was set to Unknown
Hyperinsulinism v0.0 SLC16A1 Zornitza Stark gene: SLC16A1 was added
gene: SLC16A1 was added to Hyperinsulinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC16A1 was set to Unknown
Hyperinsulinism v0.0 KCNJ11 Zornitza Stark gene: KCNJ11 was added
gene: KCNJ11 was added to Hyperinsulinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCNJ11 was set to Unknown
Hyperinsulinism v0.0 HNF4A Zornitza Stark gene: HNF4A was added
gene: HNF4A was added to Hyperinsulinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HNF4A was set to Unknown
Hyperinsulinism v0.0 HNF1A Zornitza Stark gene: HNF1A was added
gene: HNF1A was added to Hyperinsulinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HNF1A was set to Unknown
Hyperinsulinism v0.0 HADH Zornitza Stark gene: HADH was added
gene: HADH was added to Hyperinsulinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HADH was set to Unknown
Hyperinsulinism v0.0 GLUD1 Zornitza Stark gene: GLUD1 was added
gene: GLUD1 was added to Hyperinsulinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLUD1 was set to Unknown
Hyperinsulinism v0.0 GCK Zornitza Stark gene: GCK was added
gene: GCK was added to Hyperinsulinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GCK was set to Unknown
Hyperinsulinism v0.0 EIF2S3 Zornitza Stark gene: EIF2S3 was added
gene: EIF2S3 was added to Hyperinsulinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EIF2S3 was set to Unknown
Hyperinsulinism v0.0 ABCC8 Zornitza Stark gene: ABCC8 was added
gene: ABCC8 was added to Hyperinsulinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ABCC8 was set to Unknown
Hyperinsulinism v0.0 Zornitza Stark Added panel Hyperinsulinism_VCGS