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Neonatal diabetes v4.4 ONECUT1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: ONECUT1.
Tag Q3_22_NHS_review was removed from gene: ONECUT1.
Tag Q3_22_expert_review was removed from gene: ONECUT1.
Neonatal diabetes v4.4 CNOT1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: CNOT1.
Tag Q3_22_NHS_review was removed from gene: CNOT1.
Tag Q3_22_expert_review was removed from gene: CNOT1.
Neonatal diabetes v4.1 Catherine Snow Panel version 4.0 has been signed off on 2023-03-22
Neonatal diabetes v4.0 Catherine Snow promoted panel to version 4.0
Neonatal diabetes v3.5 Eleanor Williams List of related panels changed from Neonatal diabetes (diagnosed less than 6 months); Neonatal diabetes; Neonatal diabetes diagnosed <6 months; Diabetes - neonatal onset; R143 to Neonatal diabetes (diagnosed less than 6 months); Neonatal diabetes diagnosed <6 months; Diabetes - neonatal onset; R143
Neonatal diabetes v3.4 Catherine Snow Panel name changed from Diabetes - neonatal onset to Neonatal diabetes
List of related panels changed from Neonatal diabetes (diagnosed less than 6 months); Neonatal diabetes; Neonatal diabetes diagnosed <6 months; R143 to Neonatal diabetes (diagnosed less than 6 months); Neonatal diabetes; Neonatal diabetes diagnosed <6 months; Diabetes - neonatal onset; R143
Neonatal diabetes v3.3 ZNF808 Eleanor Williams Tag gene-checked tag was added to gene: ZNF808.
Neonatal diabetes v3.3 KCNJ11 Arina Puzriakova Tag Q1_22_MOI was removed from gene: KCNJ11.
Neonatal diabetes v3.3 ZNF808 Arina Puzriakova Tag Q3_22_rating was removed from gene: ZNF808.
Tag Q3_22_NHS_review was removed from gene: ZNF808.
Neonatal diabetes v3.3 EIF2B1 Arina Puzriakova Tag Q3_22_rating was removed from gene: EIF2B1.
Tag Q3_22_NHS_review was removed from gene: EIF2B1.
Neonatal diabetes v3.3 ONECUT1 Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: ONECUT1.
Neonatal diabetes v3.3 CNOT1 Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: CNOT1.
Neonatal diabetes v3.3 ONECUT1 Arina Puzriakova commented on gene: ONECUT1
Neonatal diabetes v3.3 CNOT1 Arina Puzriakova commented on gene: CNOT1
Neonatal diabetes v3.3 KCNJ11 Arina Puzriakova commented on gene: KCNJ11
Neonatal diabetes v3.3 ZNF808 Arina Puzriakova reviewed gene: ZNF808: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v3.3 EIF2B1 Arina Puzriakova reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v3.2 ZNF808 Arina Puzriakova Source Expert Review Green was added to ZNF808.
Source NHS GMS was added to ZNF808.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neonatal diabetes v3.2 KCNJ11 Arina Puzriakova Mode of inheritance for gene KCNJ11 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neonatal diabetes v3.2 EIF2B1 Arina Puzriakova Source Expert Review Green was added to EIF2B1.
Source NHS GMS was added to EIF2B1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neonatal diabetes v3.1 Catherine Snow Panel version 3.0 has been signed off on 2022-11-30
Neonatal diabetes v3.0 Catherine Snow promoted panel to version 3.0
Neonatal diabetes v2.60 ZNF808 Eleanor Williams Classified gene: ZNF808 as Amber List (moderate evidence)
Neonatal diabetes v2.60 ZNF808 Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber, with a recommendation for GREEN rating following GMs review. Paper not yet published but from GLH source.
Neonatal diabetes v2.60 ZNF808 Eleanor Williams Gene: znf808 has been classified as Amber List (Moderate Evidence).
Neonatal diabetes v2.59 ZNF808 Eleanor Williams Phenotypes for gene: ZNF808 were changed from to neonatal diabetes mellitus, MONDO:0016391; pancreatic agenesis, MONDO:0009832
Neonatal diabetes v2.58 ZNF808 Eleanor Williams Mode of inheritance for gene: ZNF808 was changed from to BIALLELIC, autosomal or pseudoautosomal
Neonatal diabetes v2.57 ZNF808 Eleanor Williams Tag Q3_22_rating tag was added to gene: ZNF808.
Tag Q3_22_NHS_review tag was added to gene: ZNF808.
Neonatal diabetes v2.57 ZNF808 Eleanor Williams changed review comment from: The ZNF808 gene does not appear in OMIM and there is no gene-disease association for this gene in Gene2Phenotype.

As the reviewer describes, De Franco et al 2022 (https://www.medrxiv.org/content/10.1101/2021.08.23.21262262v1) report 12 unrelated cases of probands with neonatal diabetes before the age of 6 months in which homozygous variants in ZNF808 have been identified. These were initially identified in 2 unrelated probands from consanguineous unions and then 232 additional neonatal diabetes patients without and identified cause were screened for variants in ZNF808 and a further 10 cases were identified. A variety of variants were identified including deletions (exons 4 and 5, whole gene deletion), nonsense and frameshift variants. Although this paper is not yet published it is from well respected authors including members of the Exeter Genomic Laboratory Hub.; to: The ZNF808 gene does not appear in OMIM and there is no gene-disease association for this gene in Gene2Phenotype.

As the reviewer describes, De Franco et al 2022 (https://www.medrxiv.org/content/10.1101/2021.08.23.21262262v1) report 12 unrelated cases of probands with neonatal diabetes before the age of 6 months in which homozygous variants in ZNF808 have been identified. These were initially identified in 2 unrelated probands from consanguineous unions and then 232 additional neonatal diabetes patients without an identified cause were screened for variants in ZNF808 and a further 10 cases were identified. A variety of variants were identified including deletions (exons 4 and 5, whole gene deletion), nonsense and frameshift variants. Although this paper is not yet published it is from well respected authors including members of the Exeter Genomic Laboratory Hub.
Neonatal diabetes v2.57 ZNF808 Eleanor Williams changed review comment from: The ZNF808 gene does not appear in OMIM and there is no gene-disease association for this gene in Gene2Phenotype.

As the reviewer describes, De Franco et al 2022 (https://www.medrxiv.org/content/10.1101/2021.08.23.21262262v1) there are 12 unrelated cases of probands with neonatal diabetes before the age of 6 months in which homozygous variants in ZNF808 have been identified. These were initially identified in 2 unrelated probands from consanguineous unions and then 232 additional neonatal diabetes patients without and identified cause were screened for variants in ZNF808 and a further 10 cases were identified. A variety of variants were identified including deletions (exons 4 and 5, whole gene deletion), nonsense and frameshift variants. Although this paper is not yet published it is from well respected authors including members of the Exeter Genomic Laboratory Hub.; to: The ZNF808 gene does not appear in OMIM and there is no gene-disease association for this gene in Gene2Phenotype.

As the reviewer describes, De Franco et al 2022 (https://www.medrxiv.org/content/10.1101/2021.08.23.21262262v1) report 12 unrelated cases of probands with neonatal diabetes before the age of 6 months in which homozygous variants in ZNF808 have been identified. These were initially identified in 2 unrelated probands from consanguineous unions and then 232 additional neonatal diabetes patients without and identified cause were screened for variants in ZNF808 and a further 10 cases were identified. A variety of variants were identified including deletions (exons 4 and 5, whole gene deletion), nonsense and frameshift variants. Although this paper is not yet published it is from well respected authors including members of the Exeter Genomic Laboratory Hub.
Neonatal diabetes v2.57 ZNF808 Eleanor Williams edited their review of gene: ZNF808: Added comment: The ZNF808 gene does not appear in OMIM and there is no gene-disease association for this gene in Gene2Phenotype.

As the reviewer describes, De Franco et al 2022 (https://www.medrxiv.org/content/10.1101/2021.08.23.21262262v1) there are 12 unrelated cases of probands with neonatal diabetes before the age of 6 months in which homozygous variants in ZNF808 have been identified. These were initially identified in 2 unrelated probands from consanguineous unions and then 232 additional neonatal diabetes patients without and identified cause were screened for variants in ZNF808 and a further 10 cases were identified. A variety of variants were identified including deletions (exons 4 and 5, whole gene deletion), nonsense and frameshift variants. Although this paper is not yet published it is from well respected authors including members of the Exeter Genomic Laboratory Hub.; Changed phenotypes to: neonatal diabetes mellitus, MONDO:0016391, pancreatic agenesis, MONDO:0009832
Neonatal diabetes v2.57 FICD Eleanor Williams changed review comment from: Gene does not appear to be in OMIM.

As expert reviewer reports the pre-print by Perera et al 2022 report 5 individuals, from 3 consanguineous families, diagnosed with infancy-onset diabetes mellitus and neurodevelopmental abnormalities (4/5 had severe developmental delay). All were found to have a homozygous variant p.(Arg371Ser) mutation in FICD. Family 1 and Family 3 where found to share a 4.5Mb haplotype that includes FICD which suggests the variant was inherited from a common distant ancestor. Functional studies showed that the variant partially compromises BiP AMPylation in vitro and eliminates all
detectable deAMPylation activity.; to: Gene does not appear to be in OMIM.

As expert reviewer reports the pre-print by Perera et al 2022 report 5 individuals, from 3 consanguineous families, diagnosed with infancy-onset diabetes mellitus and neurodevelopmental abnormalities (4/5 had severe developmental delay). Age of diabetes onset was a mean of 29 weeks (range 12-43). All were found to have a homozygous variant p.(Arg371Ser) mutation in FICD. Family 1 and Family 3 where found to share a 4.5Mb haplotype that includes FICD which suggests the variant was inherited from a common distant ancestor. Functional studies showed that the variant partially compromises BiP AMPylation in vitro and eliminates all
detectable deAMPylation activity.
Neonatal diabetes v2.57 EIF2B1 Eleanor Williams changed review comment from: Associated with Leukoencephalopathy with vanishing white matter, #603896 (AR) in OMIM.

As expert reviewer reports De Franco et al 2020 (PMID:31882561) screened patients with Permanent neonatal diabetes (PNDM) and early onset diabetes using a targeted next generation sequencing assay, including the known monogenic diabetes genes and additional candidate genes, such as EIF2B1. 5 de novo EIF2B1 variants were identified, p.(Gly44Asp), p.(Gly44Val), p.(Ser77Asn), p.(Leu34Trp), p.(*306Thrext*12). The patients do not exhibit severe neurological features seen in cases with homozygous variants in EIF2B1 but two reported cases displayed mild learning disability or attention deficit disorder.; to: Associated with Leukoencephalopathy with vanishing white matter, #603896 (AR) in OMIM.

As expert reviewer reports De Franco et al 2020 (PMID:31882561) screened patients with Permanent neonatal diabetes (PNDM) and early onset diabetes using a targeted next generation sequencing assay, including the known monogenic diabetes genes and additional candidate genes, such as EIF2B1. 5 de novo EIF2B1 variants were identified, p.(Gly44Asp), p.(Gly44Val), p.(Ser77Asn), p.(Leu34Trp), p.(*306Thrext*12). Onset of diabetes was at 21 weeks or less in 4 patients, and at 56 weeks in the 5th. The patients do not exhibit severe neurological features seen in cases with homozygous variants in EIF2B1 but two reported cases displayed mild learning disability or attention deficit disorder.
Neonatal diabetes v2.57 ONECUT1 Eleanor Williams Tag Q3_21_NHS_review was removed from gene: ONECUT1.
Tag Q3_21_expert_review was removed from gene: ONECUT1.
Tag Q3_22_NHS_review tag was added to gene: ONECUT1.
Tag Q3_22_expert_review tag was added to gene: ONECUT1.
Neonatal diabetes v2.57 ONECUT1 Eleanor Williams Tag Q3_21_NHS_review tag was added to gene: ONECUT1.
Tag Q3_21_expert_review tag was added to gene: ONECUT1.
Tag Q3_22_rating tag was added to gene: ONECUT1.
Neonatal diabetes v2.57 ONECUT1 Eleanor Williams Classified gene: ONECUT1 as Amber List (moderate evidence)
Neonatal diabetes v2.57 ONECUT1 Eleanor Williams Added comment: Comment on list classification: Promoting to amber, but with a recommendation for green rating following GMS expert review as to whether the age of onset of the cases indicates this gene-disease association is suitable for this panel. In 1 case the age of onset was 1 day old, in the other 14 months. The age of onset in the 3rd case is not known.
Neonatal diabetes v2.57 ONECUT1 Eleanor Williams Gene: onecut1 has been classified as Amber List (Moderate Evidence).
Neonatal diabetes v2.56 ONECUT1 Eleanor Williams Phenotypes for gene: ONECUT1 were changed from to ONECUT1-associated neonatal diabetes; neonatal diabetes mellitus, MONDO:0016391
Neonatal diabetes v2.55 ONECUT1 Eleanor Williams Publications for gene: ONECUT1 were set to
Neonatal diabetes v2.54 ONECUT1 Eleanor Williams Mode of inheritance for gene: ONECUT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Neonatal diabetes v2.53 ONECUT1 Eleanor Williams commented on gene: ONECUT1: Not associated with a phenotype in OMIM but is associated with ONECUT1-associated neonatal diabetes (strong) in Gene2Phenotype.

As reported by the reviewer Philippi et al 2021 report two unrelated (French and Turkish) patients from consanguineous families with homozgyous variants in OMECUT1 (1 nonsense, 1 missense) and a phenotype characterised by characterized by intrauterine growth retardation, pancreas hypoplasia and gallbladder agenesis/hypoplasia. Diabetes onset was at 1 day and 14 months in the two children respectively. Studies of the heterozygous carriers suggests that they are part of a distinctive subgroup of diabetic patients with early-onset, non-autoimmune diabetes, who respond well to diabetes treatment.

Note the eligibility criteria for this panel indicates that patients should be diagnosed with diabetes at less than 9 months of age.
Neonatal diabetes v2.53 FICD Eleanor Williams Tag watchlist tag was added to gene: FICD.
Neonatal diabetes v2.53 FICD Eleanor Williams Classified gene: FICD as Amber List (moderate evidence)
Neonatal diabetes v2.53 FICD Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber, but with a watchlist tag added.
3 cases reported but all with the same variant and 2 families share a common haplotype. Some functional data. In addition the paper is still at the pre-print stage and so has not yet been peer reviewed.
Neonatal diabetes v2.53 FICD Eleanor Williams Gene: ficd has been classified as Amber List (Moderate Evidence).
Neonatal diabetes v2.52 FICD Eleanor Williams Phenotypes for gene: FICD were changed from to Neonatal diabetes; Neonatal insulin-dependent diabetes mellitus, HP:0000857; severe neurodevelopmental delay, HP:0012758; skeletal abnormalities.
Neonatal diabetes v2.51 FICD Eleanor Williams Mode of inheritance for gene: FICD was changed from to BIALLELIC, autosomal or pseudoautosomal
Neonatal diabetes v2.50 FICD Eleanor Williams commented on gene: FICD: Gene does not appear to be in OMIM.

As expert reviewer reports the pre-print by Perera et al 2022 report 5 individuals, from 3 consanguineous families, diagnosed with infancy-onset diabetes mellitus and neurodevelopmental abnormalities (4/5 had severe developmental delay). All were found to have a homozygous variant p.(Arg371Ser) mutation in FICD. Family 1 and Family 3 where found to share a 4.5Mb haplotype that includes FICD which suggests the variant was inherited from a common distant ancestor. Functional studies showed that the variant partially compromises BiP AMPylation in vitro and eliminates all
detectable deAMPylation activity.
Neonatal diabetes v2.50 CNOT1 Eleanor Williams Tag Q3_22_NHS_review tag was added to gene: CNOT1.
Neonatal diabetes v2.50 EIF2B1 Eleanor Williams Tag Q3_22_rating tag was added to gene: EIF2B1.
Tag Q3_22_NHS_review tag was added to gene: EIF2B1.
Neonatal diabetes v2.50 EIF2B1 Eleanor Williams Classified gene: EIF2B1 as Amber List (moderate evidence)
Neonatal diabetes v2.50 EIF2B1 Eleanor Williams Gene: eif2b1 has been classified as Amber List (Moderate Evidence).
Neonatal diabetes v2.49 EIF2B1 Eleanor Williams Classified gene: EIF2B1 as Red List (low evidence)
Neonatal diabetes v2.49 EIF2B1 Eleanor Williams Added comment: Comment on list classification: Promoting to amber, but with a recommendation for green status.
Neonatal diabetes v2.49 EIF2B1 Eleanor Williams Gene: eif2b1 has been classified as Red List (Low Evidence).
Neonatal diabetes v2.48 EIF2B1 Eleanor Williams Phenotypes for gene: EIF2B1 were changed from to Permanent neonatal/early onset diabetes and transient liver dysfunction
Neonatal diabetes v2.47 EIF2B1 Eleanor Williams Publications for gene: EIF2B1 were set to
Neonatal diabetes v2.46 EIF2B1 Eleanor Williams Mode of inheritance for gene: EIF2B1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neonatal diabetes v2.45 EIF2B1 Eleanor Williams commented on gene: EIF2B1: Associated with Leukoencephalopathy with vanishing white matter, #603896 (AR) in OMIM.

As expert reviewer reports De Franco et al 2020 (PMID:31882561) screened patients with Permanent neonatal diabetes (PNDM) and early onset diabetes using a targeted next generation sequencing assay, including the known monogenic diabetes genes and additional candidate genes, such as EIF2B1. 5 de novo EIF2B1 variants were identified, p.(Gly44Asp), p.(Gly44Val), p.(Ser77Asn), p.(Leu34Trp), p.(*306Thrext*12). The patients do not exhibit severe neurological features seen in cases with homozygous variants in EIF2B1 but two reported cases displayed mild learning disability or attention deficit disorder.
Neonatal diabetes v2.45 CNOT1 Eleanor Williams changed review comment from: Comment on list classification: Promoting from red to amber with a recommendation for consideration of green rating following expert GMS review.; to: Comment on list classification: Promoting from red to amber with a recommendation for consideration of green rating following expert GMS review, however the pancreatic agenesis is associated with one missense variant only.
Neonatal diabetes v2.45 CNOT1 Eleanor Williams Tag Q3_22_rating tag was added to gene: CNOT1.
Tag Q3_22_expert_review tag was added to gene: CNOT1.
Neonatal diabetes v2.45 CNOT1 Eleanor Williams Classified gene: CNOT1 as Amber List (moderate evidence)
Neonatal diabetes v2.45 CNOT1 Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber with a recommendation for consideration of green rating following expert GMS review.
Neonatal diabetes v2.45 CNOT1 Eleanor Williams Gene: cnot1 has been classified as Amber List (Moderate Evidence).
Neonatal diabetes v2.44 CNOT1 Eleanor Williams Phenotypes for gene: CNOT1 were changed from to Holoprosencephaly 12, with or without pancreatic agenesis, OMIM:618500; holoprosencephaly 12 with or without pancreatic agenesis, MONDO:0032787
Neonatal diabetes v2.43 CNOT1 Eleanor Williams Publications for gene: CNOT1 were set to
Neonatal diabetes v2.42 CNOT1 Eleanor Williams Added comment: Comment on mode of pathogenicity: Only one missense variant reported in all cases. All de novo.
Neonatal diabetes v2.42 CNOT1 Eleanor Williams Mode of pathogenicity for gene: CNOT1 was changed from to Other
Neonatal diabetes v2.41 CNOT1 Eleanor Williams Mode of inheritance for gene: CNOT1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neonatal diabetes v2.40 CNOT1 Eleanor Williams commented on gene: CNOT1: Associated with Holoprosencephaly 12, with or without pancreatic agenesis, 618500 (AD) in OMIM and HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (strong) in Gene2Phenotype.

3 publications reporting 6 unrelated probands with the same de novo missense variant in CNOT and a holoprosencephaly phenotype. 5/6 also had pancreatic agenesis.

PMID:35481434 - Cospain et al 2022 - report a foetus with semi-lobar HPE diagnosed at ultrasound and total pancreas agenesis identified at general autopsy. WES found the CNOT1 missense c.1603C>T, p.(Arg535Cys), occurring de novo.

PMID:31006513 - de Franco et al 2019 - looked at an international cohort of 107 individuals diagnosed with pancreatic agenesis and identified 3 unrelated individuals with CNOT1 variant c.1603C>T [p.Arg535Cys]. In 2 patients it was confirmed as de novo (maternal DNA not available for the 3rd). 2 of the patients had definite holoprosencephaly and one had possible holoprosencephaly. They report that the DDD study5 has identified other de novo CNOT1 variants in three individuals with developmental delay (2 missense and 1 nonsense) but none of them had holoprosencephaly or diabetes. Mice heterozygous for p.Arg535Cys variant showed no phenotype, but homozygotes (embryonically lethal) were found to have significant reduction in the size of the pancreas and neurological abnormalities.

PMID:31006510 - Kruszka et al 2019 - 2 unrelated individuals with semilobar holoprosencephaly with de novo variants in CNOT1 (c.1603C>T [p.Arg535Cys]) identified by WES. Both probands also presented with hearing loss and global developmental delay. Proband 1 also had diabetes insipidus, neonatal diabetes mellitus requiring insulin, pancreatic exocrine insufficiency requiring enzyme therapy.
Neonatal diabetes v2.40 ZNF808 Eleanor Williams reviewed gene: ZNF808: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Neonatal diabetes, pancreatic agenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neonatal diabetes v2.40 ONECUT1 Eleanor Williams reviewed gene: ONECUT1: Rating: ; Mode of pathogenicity: ; Publications: 34663987; Phenotypes: Neonatal diabetes, pancreatic agenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neonatal diabetes v2.40 FICD Eleanor Williams reviewed gene: FICD: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Neonatal diabetes, severe neurodevelopmental delay and skeletal abnormalities.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neonatal diabetes v2.40 EIF2B1 Eleanor Williams reviewed gene: EIF2B1: Rating: ; Mode of pathogenicity: ; Publications: 31882561; Phenotypes: Permanent neonatal/early onset diabetes and transient liver dysfunction.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neonatal diabetes v2.40 CNOT1 Eleanor Williams reviewed gene: CNOT1: Rating: ; Mode of pathogenicity: ; Publications: 31006513, 35481434, 31006510; Phenotypes: Neonatal diabetes, pancreatic agenesis and holoprosencephaly.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neonatal diabetes v2.39 ZNF808 Eleanor Williams gene: ZNF808 was added
gene: ZNF808 was added to Diabetes - neonatal onset. Sources: Expert review
Mode of inheritance for gene: ZNF808 was set to
Neonatal diabetes v2.39 ONECUT1 Eleanor Williams gene: ONECUT1 was added
gene: ONECUT1 was added to Diabetes - neonatal onset. Sources: Expert review
Mode of inheritance for gene: ONECUT1 was set to
Neonatal diabetes v2.39 FICD Eleanor Williams gene: FICD was added
gene: FICD was added to Diabetes - neonatal onset. Sources: Expert review
Mode of inheritance for gene: FICD was set to
Neonatal diabetes v2.39 EIF2B1 Eleanor Williams gene: EIF2B1 was added
gene: EIF2B1 was added to Diabetes - neonatal onset. Sources: Expert review
Mode of inheritance for gene: EIF2B1 was set to
Neonatal diabetes v2.39 CNOT1 Eleanor Williams gene: CNOT1 was added
gene: CNOT1 was added to Diabetes - neonatal onset. Sources: Expert review
Mode of inheritance for gene: CNOT1 was set to
Neonatal diabetes v2.38 NKX2-2 Arina Puzriakova Tag gene-checked tag was added to gene: NKX2-2.
Neonatal diabetes v2.38 ISCA-37442-Gain Arina Puzriakova commented on Region: ISCA-37442-Gain
Neonatal diabetes v2.38 ISCA-37442-Gain Arina Puzriakova Required Overlap Percentage for ISCA-37442-Gain was changed from 80 to 60.
Neonatal diabetes v2.37 YIPF5 Ivone Leong Tag Q2_21_rating was removed from gene: YIPF5.
Neonatal diabetes v2.37 YIPF5 Ivone Leong commented on gene: YIPF5
Neonatal diabetes v2.36 YIPF5 Ivone Leong Source Expert Review Green was added to YIPF5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neonatal diabetes v2.35 KCNJ11 Ivone Leong Tag Q1_22_MOI tag was added to gene: KCNJ11.
Neonatal diabetes v2.35 KCNJ11 Ivone Leong edited their review of gene: KCNJ11: Added comment: MOI should be changed from "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" to "Monoallelic" as neonatal diabetes is associated with monoallelic inheritance. Both monoallelic and biallelic inheritance is associated with familial hyperinsulinemic hypoglycaemia.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neonatal diabetes v2.35 PDIA6 Eleanor Williams commented on gene: PDIA6: Added this gene to this panel on advice from Genomics England clinical team. Rating amber as 1 case plus functional data.
Neonatal diabetes v2.35 PDIA6 Eleanor Williams Entity copied from Skeletal ciliopathies v1.15
Neonatal diabetes v2.35 PDIA6 Eleanor Williams gene: PDIA6 was added
gene: PDIA6 was added to Diabetes - neonatal onset. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDIA6 were set to 33495992
Phenotypes for gene: PDIA6 were set to Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes
Neonatal diabetes v2.34 YIPF5 Arina Puzriakova Entity copied from Severe microcephaly v2.170
Neonatal diabetes v2.34 YIPF5 Arina Puzriakova gene: YIPF5 was added
gene: YIPF5 was added to Diabetes - neonatal onset. Sources: Literature,Expert Review Amber
Q2_21_rating tags were added to gene: YIPF5.
Mode of inheritance for gene: YIPF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YIPF5 were set to 33164986
Phenotypes for gene: YIPF5 were set to Microcephaly, epilepsy, and diabetes syndrome 2, OMIM:619278
Neonatal diabetes v2.33 AGPAT2 Ivone Leong Phenotypes for gene: AGPAT2 were changed from neonatal diabetes mellitus to neonatal diabetes mellitus, MONDO:0016391
Neonatal diabetes v2.32 AGPAT2 Ivone Leong Publications for gene: AGPAT2 were set to Poovazhagi et al., Int J Diabetes Dev Ctries (January–March 2013) 33(1):66–68, DOI 10.1007/s13410-012-0099-6
Neonatal diabetes v2.31 ZFP57 Ivone Leong Phenotypes for gene: ZFP57 were changed from Diabetes mellitus, transient neonatal, 1, 601410; Transient Neonatal Diabetes, Recessive; Transient Neonatal Diabetes to Diabetes mellitus, transient neonatal, 1, OMIM:601410
Neonatal diabetes v2.30 WFS1 Ivone Leong Phenotypes for gene: WFS1 were changed from Syndromic neonatal diabetes; Wolfram syndrome, 222300 to Wolfram-like syndrome, autosomal dominant, OMIM:614296
Neonatal diabetes v2.29 STAT3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Neonatal diabetes and additional multi-organ autoimmunity;permanent neonatal diabetes;Neonatal diabetes and early-onset multi-organ autoimmune disease
Neonatal diabetes v2.29 STAT3 Ivone Leong Phenotypes for gene: STAT3 were changed from Neonatal diabetes and additional multi-organ autoimmunity; permanent neonatal diabetes; Neonatal diabetes and early-onset multi-organ autoimmune disease to Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952
Neonatal diabetes v2.28 SLC2A2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Fanconi-Bickel syndrome, 227810;neonatal diabetes mellitus;transient neonatal diabetes mellitus (TNDM);permanent neonatal diabetes (PDNM);Fanconi Bickel Syndrome;neonatal diabetes;short stature;hepatomegaly, RTA and hypophosphatemic rickets
Neonatal diabetes v2.28 SLC2A2 Ivone Leong Phenotypes for gene: SLC2A2 were changed from Fanconi-Bickel syndrome, 227810; neonatal diabetes mellitus; transient neonatal diabetes mellitus (TNDM); permanent neonatal diabetes (PDNM); Fanconi Bickel Syndrome; neonatal diabetes; short stature; hepatomegaly, RTA and hypophosphatemic rickets to Fanconi-Bickel syndrome, OMIM:227810; neonatal diabetes mellitus, MONDO:0016391; transient neonatal diabetes mellitus (disease), MONDO:0020525; permanent neonatal diabetes mellitus, MONDO:0100164
Neonatal diabetes v2.27 SLC19A2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Thiamine-responsive megaloblastic anemia syndrome, 249270;neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia (TRMA);permanent neonatal diabetes (PNDM);Thiamine responsive megaloblastic anaemia;neonatal diabetes
Neonatal diabetes v2.27 SLC19A2 Ivone Leong Phenotypes for gene: SLC19A2 were changed from Thiamine-responsive megaloblastic anemia syndrome, 249270; neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia (TRMA); permanent neonatal diabetes (PNDM); Thiamine responsive megaloblastic anaemia; neonatal diabetes to Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270
Neonatal diabetes v2.26 RFX6 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities;Mitchell-Riley syndrome, 615710 (includes neonatal diabetes);Syndromic Neonatal diabetes;pancreatic hypoplasia, gallbladder aplasia and intestinal atresia;Mitchell-Riley syndrome
Neonatal diabetes v2.26 RFX6 Ivone Leong Phenotypes for gene: RFX6 were changed from Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities; Mitchell-Riley syndrome, 615710 (includes neonatal diabetes); Syndromic Neonatal diabetes; pancreatic hypoplasia, gallbladder aplasia and intestinal atresia; Mitchell-Riley syndrome to Mitchell-Riley syndrome, OMIM:615710 (includes neonatal diabetes)
Neonatal diabetes v2.25 PTF1A Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069;Permanent neonatal diabetes mellitus (PNDM);Permanent neonatal diabetes with cerebellar agenesis
Neonatal diabetes v2.25 PTF1A Ivone Leong Phenotypes for gene: PTF1A were changed from Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069; Permanent neonatal diabetes mellitus (PNDM); Permanent neonatal diabetes with cerebellar agenesis to Pancreatic and cerebellar agenesis, OMIM:609069; Permanent neonatal diabetes mellitus, MONDO:0100164; Pancreatic agenesis 2, OMIM:615935
Neonatal diabetes v2.24 PDX1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Permanent neonatal diabetes;pancreas agenesis;permanent neonatal diabetes mellitus associated with pancreas agenesis;Pancreatic agenesis 1, 260370
Neonatal diabetes v2.24 PDX1 Ivone Leong Phenotypes for gene: PDX1 were changed from Permanent neonatal diabetes; pancreas agenesis; permanent neonatal diabetes mellitus associated with pancreas agenesis; Pancreatic agenesis 1, 260370 to Pancreatic agenesis 1, OMIM:260370; MODY, type IV, OMIM:606392; Permanent neonatal diabetes mellitus, MONDO:0100164; permanent neonatal diabetes mellitus associated with pancreas agenesis
Neonatal diabetes v2.23 NKX2-2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Neonatal diabetes;Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment
Neonatal diabetes v2.23 NKX2-2 Ivone Leong Phenotypes for gene: NKX2-2 were changed from Neonatal diabetes; Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment to Neonatal diabetes mellitus, MONDO:0016391; Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment
Neonatal diabetes v2.22 NEUROG3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Permanent neonatal diabetes and enteric anendocrinosis; congenital malabsorptive diarrhea and neonatal diabetes; Syndromic neonatal diabetes with malabsorptive diarrhea (neurointestinal dysplasia, intrahepatic bilary tract, abnormalities of thyroid gland and CNS)

Permanent neonatal diabetes mellitus, MONDO:0100164;
Diarrhea 4, malabsorptive, congenital, OMIM:610370
Neonatal diabetes v2.22 NEUROG3 Ivone Leong Phenotypes for gene: NEUROG3 were changed from Permanent neonatal diabetes and enteric anendocrinosis; congenital malabsorptive diarrhea and neonatal diabetes; Syndromic neonatal diabetes with malabsorptive diarrhea (neurointestinal dysplasia, intrahepatic bilary tract, abnormalities of thyroid gland and CNS) to Permanent neonatal diabetes mellitus, MONDO:0100164; Diarrhea 4, malabsorptive, congenital, OMIM:610370
Neonatal diabetes v2.21 NEUROD1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Permanent neonatal diabetes and cerebellar agenesis;Neonatal diabetes and cerebellar agenesis, rocker bottom feet, poorly developed renal cortex and medulla, sacral agenesis, high imperforate anus;Maturity-onset diabetes of the young 6, 606394
Neonatal diabetes v2.21 NEUROD1 Ivone Leong Phenotypes for gene: NEUROD1 were changed from Permanent neonatal diabetes and cerebellar agenesis; Neonatal diabetes and cerebellar agenesis, rocker bottom feet, poorly developed renal cortex and medulla, sacral agenesis, high imperforate anus; Maturity-onset diabetes of the young 6, 606394 to permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, MONDO:0012192; Maturity-onset diabetes of the young 6, OMIM:606394; Neonatal diabetes and cerebellar agenesis, rocker bottom feet, poorly developed renal cortex and medulla, sacral agenesis, high imperforate anus
Neonatal diabetes v2.20 MNX1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotype:
Neonatal Diabetes;Permanent neonatal diabetes mellitus (PNDM);Recessive Neonatal diabetes;IUGR;w w/o eatures of Currarrino syndrome and sacral agenesis;Currarino syndrome, 176450
Neonatal diabetes v2.20 MNX1 Ivone Leong Phenotypes for gene: MNX1 were changed from Neonatal Diabetes; Permanent neonatal diabetes mellitus (PNDM); Recessive Neonatal diabetes; IUGR; w w/o eatures of Currarrino syndrome and sacral agenesis; Currarino syndrome, 176450 to Neonatal Diabetes Mellitus, MONDO:0016391; Permanent neonatal diabetes mellitus, MONDO:0100164; Currarino syndrome, OMIM:176450
Neonatal diabetes v2.19 LRBA Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Immunodysregulation and type 1 diabetes;Immunodeficiency, common variable, 8, with autoimmunity, 614700;IPEX-like syndrome;Neonatal diabetes and additional autoimmunity
Neonatal diabetes v2.19 LRBA Ivone Leong Phenotypes for gene: LRBA were changed from Immunodysregulation and type 1 diabetes; Immunodeficiency, common variable, 8, with autoimmunity, 614700; IPEX-like syndrome; Neonatal diabetes and additional autoimmunity to Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700; IPEX-like syndrome; Neonatal diabetes and additional autoimmunity
Neonatal diabetes v2.18 KCNJ11 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Hyperinsulinemic hypoglycemia, familial, 2, 601820;Diabetes, permanent neonatal, 606176;Diabetes mellitus, permanent neonatal, with neurologic features, 606176;{Diabetes mellitus, type 2, susceptibility to}, 125853;Diabetes mellitus, transient neonatal, 3, 610582;Transient Neonatal Diabetes, Dominant;Diabetes Mellitus, PermanentNeonatal;Diabetes Mellitus, Transient Neonatal, 3;Transient Neonatal diabetes mellitus (Dominant);Isolated permanent neonatal diabetes;isolated transient neonatal diabetes, neonatal diabetes and developmental delay
Neonatal diabetes v2.18 KCNJ11 Ivone Leong Phenotypes for gene: KCNJ11 were changed from Hyperinsulinemic hypoglycemia, familial, 2, 601820; Diabetes, permanent neonatal, 606176; Diabetes mellitus, permanent neonatal, with neurologic features, 606176; {Diabetes mellitus, type 2, susceptibility to}, 125853; Diabetes mellitus, transient neonatal, 3, 610582; Transient Neonatal Diabetes, Dominant; Diabetes Mellitus, PermanentNeonatal; Diabetes Mellitus, Transient Neonatal, 3; Transient Neonatal diabetes mellitus (Dominant); Isolated permanent neonatal diabetes; isolated transient neonatal diabetes, neonatal diabetes and developmental delay to Hyperinsulinemic hypoglycemia, familial, 2, 601820; Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856; {Diabetes mellitus, type 2, susceptibility to}, OMIM:125853; Diabetes mellitus, transient neonatal, 3, OMIM:610582; Maturity-onset diabetes of the young, type 13, OMIM:616329
Neonatal diabetes v2.17 INSR Ivone Leong Phenotypes for gene: INSR were changed from neonatal diabetes; Donohue syndrome, 246200 to neonatal diabetes; Donohue syndrome, OMIM:246200, Hyperinsulinemic hypoglycemia, familial, 5, OMIM:609968; Rabson-Mendenhall syndrome, OMIM:262190
Neonatal diabetes v2.16 INS Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Hyperproinsulinemia, familial, with or without diabetes; Maturity-onset diabetes of the young, type 10, 613370; Diabetes mellitus, permanent neonatal, 606176; Diabetes mellitus, type 1, 125852; Diabetes mellitus, insulin-dependent, 2, 125852;Transient Neonatal Diabetes, Dominant/Recessive;Permanent Neonatal diabetes mellitus
Neonatal diabetes v2.16 INS Ivone Leong Phenotypes for gene: INS were changed from Hyperproinsulinemia, familial, with or without diabetes; Maturity-onset diabetes of the young, type 10, 613370; Diabetes mellitus, permanent neonatal, 606176; Diabetes mellitus, type 1, 125852; Diabetes mellitus, insulin-dependent, 2, 125852; Transient Neonatal Diabetes, Dominant/Recessive; Permanent Neonatal diabetes mellitus to Hyperproinsulinemia, OMIM:616214; Maturity-onset diabetes of the young, type 10, 613370; Diabetes mellitus, insulin-dependent, 2, 125852; Transient Neonatal Diabetes Mellitus (disease), MONDO:0020525 (Dominant/Recessive); Permanent Neonatal diabetes mellitus, MONDO:010016
Neonatal diabetes v2.15 IL2RA Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
neonatal diabetes;insulin-dependent diabetes mellitus at 8-weeks;IPEX-like syndrome;{Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942;Neoantal diabetes, congenital hypothyrodism (multiple autoimmune) Recessive
Neonatal diabetes v2.15 IL2RA Ivone Leong Phenotypes for gene: IL2RA were changed from neonatal diabetes; insulin-dependent diabetes mellitus at 8-weeks; IPEX-like syndrome; {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942; Neoantal diabetes, congenital hypothyrodism (multiple autoimmune) Recessive to neonatal diabetes mellitus, MONDO:0016391; insulin-dependent diabetes mellitus at 8-weeks; IPEX-like syndrome; {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, OMIM:601942; neonatal diabetes mellitus with congenital hypothyroidism, MONDO:0012436
Neonatal diabetes v2.14 IER3IP1 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with neonatal diabetes, permanent neonatal diabetes
Neonatal diabetes v2.14 IER3IP1 Ivone Leong Phenotypes for gene: IER3IP1 were changed from Microcephaly, epilepsy and diabetes syndrome, 614231; neonatal diabetes; permanent neonatal diabetes to Microcephaly, epilepsy and diabetes syndrome, OMIM:614231
Neonatal diabetes v2.13 HNF1B Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Transient neonatal diabetes;transient neonatal diabetes mellitus (TNDM);permanent neonatal diabetes mellitus;Diabetes mellitus, noninsulin-dependent, 125853;Transient neonatal diabetes, pancreatic atrophy, mild exocrine insufficiency and low BW
Neonatal diabetes v2.13 HNF1B Ivone Leong Phenotypes for gene: HNF1B were changed from Transient neonatal diabetes; transient neonatal diabetes mellitus (TNDM); permanent neonatal diabetes mellitus; Diabetes mellitus, noninsulin-dependent, 125853; Transient neonatal diabetes, pancreatic atrophy, mild exocrine insufficiency and low BW to Transient neonatal diabetes mellitus (disease), MONDO:0020525; permanent neonatal diabetes mellitus, MONDO:0100164; Type 2 diabetes mellitus, OMIM:125853; transient neonatal diabetes, pancreatic atrophy, mild exocrine insufficiency and low BW
Neonatal diabetes v2.12 GLIS3 Ivone Leong Phenotypes for gene: GLIS3 were changed from Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199; Neonatal Diabetes mellitus with congenital hypothyroidism to Diabetes mellitus, neonatal, with congenital hypothyroidism, OMIM:610199
Neonatal diabetes v2.11 GCK Ivone Leong Added comment: Comment on phenotypes: Previous phenotype:
MODY, type II, 125851;Diabetes mellitus, noninsulin-dependent, late onset, 125853;Diabetes mellitus, gestational, 125851;Hyperinsulinemic hypoglycemia, familial, 3, 602485;Diabetes mellitus, permanent neonatal, 606176;Permanent Neonatal Diabetes Mellitus;Transient Neonatal Diabetes, Recessive;Permanent neonatal diabetes;Fasting hyperglycaemia, permanent neonatal diabetes
Neonatal diabetes v2.11 GCK Ivone Leong Phenotypes for gene: GCK were changed from MODY, type II, 125851; Diabetes mellitus, noninsulin-dependent, late onset, 125853; Diabetes mellitus, gestational, 125851; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Diabetes mellitus, permanent neonatal, 606176; Permanent Neonatal Diabetes Mellitus; Transient Neonatal Diabetes, Recessive; Permanent neonatal diabetes; Fasting hyperglycaemia, permanent neonatal diabetes to MODY, type II, OMIM:125851; Diabetes mellitus, noninsulin-dependent, late onset, OMIM:125853; Hyperinsulinemic hypoglycemia, familial, 3, OMIM:602485; Diabetes mellitus, permanent neonatal 1, OMIM:606176; Transient Neonatal Diabetes Mellitus (disease), MONDO:0020525 (recessive)
Neonatal diabetes v2.10 GATA6 Ivone Leong Phenotypes for gene: GATA6 were changed from Pancreatic agenesis and congenital heart defects, 600001; neonatal diabetes mellitus; Pancreatic agenesis and congenital heart defects to Pancreatic agenesis and congenital heart defects, OMIM:600001; neonatal diabetes mellitus, MONDO:0016391
Neonatal diabetes v2.9 GATA4 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Neonatal diabetes, Pancreatic agenesis and/or congenital heart defects;permanent neonatal diabetes melllitus;transient neonatal diabetes melllitus
Neonatal diabetes v2.9 GATA4 Ivone Leong Phenotypes for gene: GATA4 were changed from Neonatal diabetes, Pancreatic agenesis and/or congenital heart defects; permanent neonatal diabetes melllitus; transient neonatal diabetes melllitus to Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, MONDO:0010802; permanent neonatal diabetes melllitus, MONDO:0100164; Transient neonatal diabetes mellitus (disease), MONDO:0020525
Neonatal diabetes v2.8 FOXP3 Ivone Leong Phenotypes for gene: FOXP3 were changed from Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (includes Insulin-dependent diabetes mellitus (type I)); IPEX syndrome to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, OMIM:304790 (includes Insulin-dependent diabetes mellitus (type I))
Neonatal diabetes v2.7 EIF2S3 Ivone Leong Phenotypes for gene: EIF2S3 were changed from diabetes; intellectual disability; microcephaly; epilepsy; hypogonadism; hypogenitalism; central obesity; MEHMO syndrome (X-linked NDM and microcephaly),300148 to diabetes mellitus (disease), MONDO:0005015; MEHMO syndrome, OMIM:300148
Neonatal diabetes v2.6 EIF2AK3 Ivone Leong Phenotypes for gene: EIF2AK3 were changed from Wolcott-Rallison syndrome, 226980 (includes onset of diabetes in neonatal period/ early infancy) to Wolcott-Rallison syndrome, OMIM:226980 (includes onset of diabetes in neonatal period/ early infancy)
Neonatal diabetes v2.5 BSCL2 Ivone Leong Phenotypes for gene: BSCL2 were changed from Congenital generalised lipodystrophy, severe insulin resistance and diabetes; Neonatal diabetes and generalised lipodystrophy; Lipodystrophy, congenital generalized, type 2, 269700 to Congenital generalised lipodystrophy, severe insulin resistance and diabetes; Neonatal diabetes and generalised lipodystrophy; Lipodystrophy, congenital generalized, type 2, OMIM:269700
Neonatal diabetes v2.4 ABCC8 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Isolated permanent neonatal diabetes; isolated transient neonatal diabetes, neonatal diabetes and developmental delay
Neonatal diabetes v2.4 ABCC8 Ivone Leong Phenotypes for gene: ABCC8 were changed from Hyperinsulinemic hypoglycemia, familial, 1, 256450; Hypoglycemia of infancy, leucine-sensitive, 240800; Diabetes mellitus, transient neonatal 2, 610374; Diabetes mellitus, noninsulin-dependent, 125853; Diabetes mellitus, permanent neonatal, 606176; Permanent Neonatal Diabetes Mellitus; Transient Neonatal Diabetes, Dominant; Permanent neonatal diabetes mellitus; transient neonatal diabetes (Dominant); Isolated permanent neonatal diabetes; isolated transient neonatal diabetes, neonatal diabetes and developmental delay to Hyperinsulinemic hypoglycemia, familial, 1, OMIM:256450; Hypoglycemia of infancy, leucine-sensitive, OMIM:240800; Diabetes mellitus, transient neonatal 2, OMIM:610374; Diabetes mellitus, noninsulin-dependent, OMIM:125853; Diabetes mellitus, permanent neonatal 3, with or without neurologic features, OMIM:618857
Neonatal diabetes v2.3 Sarah Leigh Panel version has been signed off
Neonatal diabetes v2.0 Ivone Leong promoted panel to version 2.0
Neonatal diabetes v1.46 CISD2 Ivone Leong edited their review of gene: CISD2: Added comment: Submitted on hehalf of Jayne Houghton (Royal Devon and Exeter Foundation Trust): "This gene is a known cause of Wolfram-like syndrome. There has been no reported cases of mutations in this gene in patients diagnosed with neonatal diabetes. However it is included in our Exeter panel since we have reported cases of neonatal diabetes in the other Wolfram gene, WFS1."; Changed rating: RED
Neonatal diabetes v1.46 AGPAT2 Ivone Leong edited their review of gene: AGPAT2: Added comment: Submitted on behalf of Jayne Houghton (Royal Devon and Exeter Foundation Trust): "We have identified pathogenic variants in this gene in only two patients with neonatal diabetes from two different families. Therefore there is currently insufficient evidence for this being a neonatal diabetes gene (only 2 unrelated cases) and so this should not currently be changed to green using panelapp guidelines."; Changed rating: RED
Neonatal diabetes v1.45 WFS1 Ivone Leong Phenotypes for gene: WFS1 were changed from Syndromic neonatal diabetes to Syndromic neonatal diabetes; Wolfram syndrome, 222300
Neonatal diabetes v1.44 STAT3 Ivone Leong Phenotypes for gene: STAT3 were changed from Neonatal diabetes and additional multi-organ autoimmunity; permanent neonatal diabetes to Neonatal diabetes and additional multi-organ autoimmunity; permanent neonatal diabetes; Neonatal diabetes and early-onset multi-organ autoimmune disease
Neonatal diabetes v1.43 SLC2A2 Ivone Leong Phenotypes for gene: SLC2A2 were changed from Fanconi-Bickel syndrome, 227810; neonatal diabetes mellitus; transient neonatal diabetes mellitus (TNDM); permanent neonatal diabetes (PDNM) to Fanconi-Bickel syndrome, 227810; neonatal diabetes mellitus; transient neonatal diabetes mellitus (TNDM); permanent neonatal diabetes (PDNM); Fanconi Bickel Syndrome; neonatal diabetes; short stature; hepatomegaly, RTA and hypophosphatemic rickets
Neonatal diabetes v1.42 SLC19A2 Ivone Leong Phenotypes for gene: SLC19A2 were changed from Thiamine-responsive megaloblastic anemia syndrome, 249270; neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia (TRMA); permanent neonatal diabetes (PNDM) to Thiamine-responsive megaloblastic anemia syndrome, 249270; neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia (TRMA); permanent neonatal diabetes (PNDM); Thiamine responsive megaloblastic anaemia; neonatal diabetes
Neonatal diabetes v1.41 RFX6 Ivone Leong Phenotypes for gene: RFX6 were changed from Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities; Mitchell-Riley syndrome, 615710 (includes neonatal diabetes) to Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities; Mitchell-Riley syndrome, 615710 (includes neonatal diabetes); Syndromic Neonatal diabetes; pancreatic hypoplasia, gallbladder aplasia and intestinal atresia; Mitchell-Riley syndrome
Neonatal diabetes v1.40 NKX2-2 Ivone Leong Phenotypes for gene: NKX2-2 were changed from Neonatal diabetes to Neonatal diabetes; Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment
Neonatal diabetes v1.39 NEUROG3 Ivone Leong Phenotypes for gene: NEUROG3 were changed from Permanent neonatal diabetes and enteric anendocrinosis; congenital malabsorptive diarrhea and neonatal diabetes to Permanent neonatal diabetes and enteric anendocrinosis; congenital malabsorptive diarrhea and neonatal diabetes; Syndromic neonatal diabetes with malabsorptive diarrhea (neurointestinal dysplasia, intrahepatic bilary tract, abnormalities of thyroid gland and CNS)
Neonatal diabetes v1.38 NEUROD1 Ivone Leong Phenotypes for gene: NEUROD1 were changed from Permanent neonatal diabetes and cerebellar agenesis to Permanent neonatal diabetes and cerebellar agenesis; Neonatal diabetes and cerebellar agenesis, rocker bottom feet, poorly developed renal cortex and medulla, sacral agenesis, high imperforate anus; Maturity-onset diabetes of the young 6, 606394
Neonatal diabetes v1.37 MNX1 Ivone Leong Phenotypes for gene: MNX1 were changed from Neonatal Diabetes; Permanent neonatal diabetes mellitus (PNDM) to Neonatal Diabetes; Permanent neonatal diabetes mellitus (PNDM); Recessive Neonatal diabetes; IUGR; w w/o eatures of Currarrino syndrome and sacral agenesis; Currarino syndrome, 176450
Neonatal diabetes v1.36 LRBA Ivone Leong Phenotypes for gene: LRBA were changed from Immunodysregulation and type 1 diabetes; Immunodeficiency, common variable, 8, with autoimmunity, 614700; IPEX-like syndrome to Immunodysregulation and type 1 diabetes; Immunodeficiency, common variable, 8, with autoimmunity, 614700; IPEX-like syndrome; Neonatal diabetes and additional autoimmunity
Neonatal diabetes v1.35 KCNJ11 Ivone Leong Phenotypes for gene: KCNJ11 were changed from Hyperinsulinemic hypoglycemia, familial, 2, 601820; Diabetes, permanent neonatal, 606176; Diabetes mellitus, permanent neonatal, with neurologic features, 606176; {Diabetes mellitus, type 2, susceptibility to}, 125853; Diabetes mellitus, transient neonatal, 3, 610582; Transient Neonatal Diabetes, Dominant; Diabetes Mellitus, PermanentNeonatal; Diabetes Mellitus, Transient Neonatal, 3; Transient Neonatal diabetes mellitus (Dominant) to Hyperinsulinemic hypoglycemia, familial, 2, 601820; Diabetes, permanent neonatal, 606176; Diabetes mellitus, permanent neonatal, with neurologic features, 606176; {Diabetes mellitus, type 2, susceptibility to}, 125853; Diabetes mellitus, transient neonatal, 3, 610582; Transient Neonatal Diabetes, Dominant; Diabetes Mellitus, PermanentNeonatal; Diabetes Mellitus, Transient Neonatal, 3; Transient Neonatal diabetes mellitus (Dominant); Isolated permanent neonatal diabetes; isolated transient neonatal diabetes, neonatal diabetes and developmental delay
Neonatal diabetes v1.34 INSR Ivone Leong Phenotypes for gene: INSR were changed from neonatal diabetes to neonatal diabetes; Donohue syndrome, 246200
Neonatal diabetes v1.33 IL2RA Ivone Leong Phenotypes for gene: IL2RA were changed from neonatal diabetes; insulin-dependent diabetes mellitus at 8-weeks; IPEX-like syndrome; {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942 to neonatal diabetes; insulin-dependent diabetes mellitus at 8-weeks; IPEX-like syndrome; {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942; Neoantal diabetes, congenital hypothyrodism (multiple autoimmune) Recessive
Neonatal diabetes v1.32 HNF1B Ivone Leong Phenotypes for gene: HNF1B were changed from Transient neonatal diabetes; transient neonatal diabetes mellitus (TNDM); permanent neonatal diabetes mellitus; Diabetes mellitus, noninsulin-dependent, 125853 to Transient neonatal diabetes; transient neonatal diabetes mellitus (TNDM); permanent neonatal diabetes mellitus; Diabetes mellitus, noninsulin-dependent, 125853; Transient neonatal diabetes, pancreatic atrophy, mild exocrine insufficiency and low BW
Neonatal diabetes v1.31 GCK Ivone Leong Phenotypes for gene: GCK were changed from MODY, type II, 125851; Diabetes mellitus, noninsulin-dependent, late onset, 125853; Diabetes mellitus, gestational, 125851; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Diabetes mellitus, permanent neonatal, 606176; Permanent Neonatal Diabetes Mellitus; Transient Neonatal Diabetes, Recessive; Permanent neonatal diabetes to MODY, type II, 125851; Diabetes mellitus, noninsulin-dependent, late onset, 125853; Diabetes mellitus, gestational, 125851; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Diabetes mellitus, permanent neonatal, 606176; Permanent Neonatal Diabetes Mellitus; Transient Neonatal Diabetes, Recessive; Permanent neonatal diabetes; Fasting hyperglycaemia, permanent neonatal diabetes
Neonatal diabetes v1.30 GATA6 Ivone Leong Phenotypes for gene: GATA6 were changed from Pancreatic agenesis and congenital heart defects, 600001; neonatal diabetes mellitus to Pancreatic agenesis and congenital heart defects, 600001; neonatal diabetes mellitus; Pancreatic agenesis and congenital heart defects
Neonatal diabetes v1.29 EIF2S3 Ivone Leong Phenotypes for gene: EIF2S3 were changed from diabetes; intellectual disability; microcephaly; epilepsy; hypogonadism; hypogenitalism; central obesity to diabetes; intellectual disability; microcephaly; epilepsy; hypogonadism; hypogenitalism; central obesity; MEHMO syndrome (X-linked NDM and microcephaly),300148
Neonatal diabetes v1.28 BSCL2 Ivone Leong Phenotypes for gene: BSCL2 were changed from Congenital generalised lipodystrophy, severe insulin resistance and diabetes to Congenital generalised lipodystrophy, severe insulin resistance and diabetes; Neonatal diabetes and generalised lipodystrophy; Lipodystrophy, congenital generalized, type 2, 269700
Neonatal diabetes v1.27 ABCC8 Ivone Leong Phenotypes for gene: ABCC8 were changed from Hyperinsulinemic hypoglycemia, familial, 1, 256450; Hypoglycemia of infancy, leucine-sensitive, 240800; Diabetes mellitus, transient neonatal 2, 610374; Diabetes mellitus, noninsulin-dependent, 125853; Diabetes mellitus, permanent neonatal, 606176; Permanent Neonatal Diabetes Mellitus; Transient Neonatal Diabetes, Dominant; Permanent neonatal diabetes mellitus; transient neonatal diabetes (Dominant) to Hyperinsulinemic hypoglycemia, familial, 1, 256450; Hypoglycemia of infancy, leucine-sensitive, 240800; Diabetes mellitus, transient neonatal 2, 610374; Diabetes mellitus, noninsulin-dependent, 125853; Diabetes mellitus, permanent neonatal, 606176; Permanent Neonatal Diabetes Mellitus; Transient Neonatal Diabetes, Dominant; Permanent neonatal diabetes mellitus; transient neonatal diabetes (Dominant); Isolated permanent neonatal diabetes; isolated transient neonatal diabetes, neonatal diabetes and developmental delay
Neonatal diabetes v1.26 Ivone Leong List of related panels changed from Neonatal diabetes (diagnosed less than 6 months); Neonatal diabetes; Neonatal diabetes diagnosed <6 months to Neonatal diabetes (diagnosed less than 6 months); Neonatal diabetes; Neonatal diabetes diagnosed <6 months; R143
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off
Neonatal diabetes v1.24 EIF2S3 Ivone Leong Classified gene: EIF2S3 as Green List (high evidence)
Neonatal diabetes v1.24 EIF2S3 Ivone Leong Added comment: Comment on list classification: Promoted from red to green as recommended by Jayne Houghton (South West GLH).
Neonatal diabetes v1.24 EIF2S3 Ivone Leong Gene: eif2s3 has been classified as Green List (High Evidence).
Neonatal diabetes v1.23 EIF2S3 Ivone Leong Phenotypes for gene: EIF2S3 were changed from to diabetes; intellectual disability; microcephaly; epilepsy; hypogonadism; hypogenitalism; central obesity
Neonatal diabetes v1.22 EIF2S3 Ivone Leong Publications for gene: EIF2S3 were set to
Neonatal diabetes v1.21 EIF2S3 Ivone Leong Mode of inheritance for gene: EIF2S3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Neonatal diabetes v1.20 COQ9 Ivone Leong Phenotypes for gene: COQ9 were changed from to neonatal hyperglycaemia; Primary Coenzyme Q10 Deficiency
Neonatal diabetes v1.19 COQ9 Ivone Leong Mode of inheritance for gene: COQ9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Neonatal diabetes v1.18 COQ2 Ivone Leong Phenotypes for gene: COQ2 were changed from to neonatal hyperglycaemia, Primary Coenzyme Q10 Deficiency
Neonatal diabetes v1.17 COQ2 Ivone Leong Mode of inheritance for gene: COQ2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Neonatal diabetes v1.16 LPL Ivone Leong Mode of inheritance for gene: LPL was changed from to BIALLELIC, autosomal or pseudoautosomal
Neonatal diabetes v1.15 LPL Ivone Leong Publications for gene: LPL were set to
Neonatal diabetes v1.14 LPL Ivone Leong Phenotypes for gene: LPL were changed from to lipoprotein lipase deficiency; transient neonatal diabetes
Neonatal diabetes v1.13 COQ9 Jayne Houghton reviewed gene: COQ9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: neonatal hyperglycaemia, Primary Coenzyme Q10 Deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neonatal diabetes v1.13 COQ2 Jayne Houghton reviewed gene: COQ2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: neonatal hyperglycaemia, Primary Coenzyme Q10 Deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neonatal diabetes v1.13 EIF2S3 Jayne Houghton reviewed gene: EIF2S3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28055140; Phenotypes: diabetes, intellectual disability, microcephaly, epilepsy, hypogonadism, hypogenitalism, central obesity; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Neonatal diabetes v1.13 LPL Jayne Houghton reviewed gene: LPL: Rating: RED; Mode of pathogenicity: None; Publications: 12408192; Phenotypes: lipoprotein lipase deficiency, transient neonatal diabetes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neonatal diabetes v1.13 LPL Jayne Houghton Deleted their review
Neonatal diabetes v1.13 LPL Jayne Houghton reviewed gene: LPL: Rating: RED; Mode of pathogenicity: None; Publications: 12408192; Phenotypes: lipoprotein lipase deficiency, transient neonatal diabetes; Mode of inheritance: Unknown; Current diagnostic: yes
Neonatal diabetes v1.13 COQ9 Jayne Houghton Deleted their review
Neonatal diabetes v1.13 AGPAT2 Jayne Houghton Deleted their review
Neonatal diabetes v1.13 COQ2 Jayne Houghton Deleted their review
Neonatal diabetes v1.13 COQ2 Jayne Houghton reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: neonatal hyperglycaemia, Primary Coenzyme Q10 Deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neonatal diabetes v1.13 COQ9 Jayne Houghton reviewed gene: COQ9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: neonatal hyperglycaemia, Primary Coenzyme Q10 Deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neonatal diabetes v1.13 AGPAT2 Jayne Houghton reviewed gene: AGPAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22831748; Phenotypes: Diabetes, insulin resistance, hepatomegaly, skeletal muscle hypertrophy, hypertrophic cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neonatal diabetes v1.13 ZFP57 Ivone Leong reviewed gene: ZFP57: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 WFS1 Ivone Leong reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 STAT3 Ivone Leong reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 SLC2A2 Ivone Leong reviewed gene: SLC2A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 SLC19A2 Ivone Leong reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 RFX6 Ivone Leong reviewed gene: RFX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 PTF1A Ivone Leong reviewed gene: PTF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 PDX1 Ivone Leong reviewed gene: PDX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 NKX2-2 Ivone Leong reviewed gene: NKX2-2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 NEUROG3 Ivone Leong reviewed gene: NEUROG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 NEUROD1 Ivone Leong reviewed gene: NEUROD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 MNX1 Ivone Leong reviewed gene: MNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 LRBA Ivone Leong reviewed gene: LRBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 LPL Ivone Leong reviewed gene: LPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 KCNJ11 Ivone Leong reviewed gene: KCNJ11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 INSR Ivone Leong reviewed gene: INSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 INS Ivone Leong reviewed gene: INS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 IL2RA Ivone Leong reviewed gene: IL2RA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 IER3IP1 Ivone Leong reviewed gene: IER3IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 HNF1B Ivone Leong reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 GLIS3 Ivone Leong reviewed gene: GLIS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 GCK Ivone Leong reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 GATA6 Ivone Leong reviewed gene: GATA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 GATA4 Ivone Leong reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 FOXP3 Ivone Leong reviewed gene: FOXP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 EIF2S3 Ivone Leong reviewed gene: EIF2S3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 EIF2AK3 Ivone Leong reviewed gene: EIF2AK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 COQ9 Ivone Leong reviewed gene: COQ9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 COQ2 Ivone Leong reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 CISD2 Ivone Leong reviewed gene: CISD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 BSCL2 Ivone Leong reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 AGPAT2 Ivone Leong reviewed gene: AGPAT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 ABCC8 Ivone Leong reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.12 ZFP57 Ivone Leong Source NHS GMS was added to ZFP57.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 WFS1 Ivone Leong Source NHS GMS was added to WFS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 STAT3 Ivone Leong Source NHS GMS was added to STAT3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 SLC2A2 Ivone Leong Source NHS GMS was added to SLC2A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 SLC19A2 Ivone Leong Source NHS GMS was added to SLC19A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 RFX6 Ivone Leong Source NHS GMS was added to RFX6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 PTF1A Ivone Leong Source NHS GMS was added to PTF1A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 PDX1 Ivone Leong Source NHS GMS was added to PDX1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 NKX2-2 Ivone Leong Source NHS GMS was added to NKX2-2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 NEUROG3 Ivone Leong Source NHS GMS was added to NEUROG3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 NEUROD1 Ivone Leong Source NHS GMS was added to NEUROD1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 MNX1 Ivone Leong Source NHS GMS was added to MNX1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 LRBA Ivone Leong Source NHS GMS was added to LRBA.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 LPL Ivone Leong gene: LPL was added
gene: LPL was added to Diabetes - neonatal onset. Sources: NHS GMS
Mode of inheritance for gene: LPL was set to
Neonatal diabetes v1.12 KCNJ11 Ivone Leong Source NHS GMS was added to KCNJ11.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 INSR Ivone Leong Source NHS GMS was added to INSR.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 INS Ivone Leong Source NHS GMS was added to INS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 IL2RA Ivone Leong Source NHS GMS was added to IL2RA.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 IER3IP1 Ivone Leong Source NHS GMS was added to IER3IP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 HNF1B Ivone Leong Source NHS GMS was added to HNF1B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 GLIS3 Ivone Leong Source NHS GMS was added to GLIS3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 GCK Ivone Leong Source NHS GMS was added to GCK.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 GATA6 Ivone Leong Source NHS GMS was added to GATA6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 GATA4 Ivone Leong Source NHS GMS was added to GATA4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 FOXP3 Ivone Leong Source NHS GMS was added to FOXP3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 EIF2S3 Ivone Leong gene: EIF2S3 was added
gene: EIF2S3 was added to Diabetes - neonatal onset. Sources: NHS GMS
Mode of inheritance for gene: EIF2S3 was set to
Neonatal diabetes v1.12 EIF2AK3 Ivone Leong Source NHS GMS was added to EIF2AK3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 COQ9 Ivone Leong gene: COQ9 was added
gene: COQ9 was added to Diabetes - neonatal onset. Sources: NHS GMS
Mode of inheritance for gene: COQ9 was set to
Neonatal diabetes v1.12 COQ2 Ivone Leong gene: COQ2 was added
gene: COQ2 was added to Diabetes - neonatal onset. Sources: NHS GMS
Mode of inheritance for gene: COQ2 was set to
Neonatal diabetes v1.12 CISD2 Ivone Leong Source NHS GMS was added to CISD2.
Neonatal diabetes v1.12 BSCL2 Ivone Leong Source NHS GMS was added to BSCL2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 AGPAT2 Ivone Leong Source NHS GMS was added to AGPAT2.
Neonatal diabetes v1.12 ABCC8 Ivone Leong Source NHS GMS was added to ABCC8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.11 Louise Daugherty List of related panels changed from Neonatal diabetes (diagnosed less than 6 months); Neonatal diabetes; Neonatal diabetes diagnosed <6 months; GMS R143 to Neonatal diabetes (diagnosed less than 6 months); Neonatal diabetes; Neonatal diabetes diagnosed <6 months
Neonatal diabetes v1.9 Ellen McDonagh List of related panels changed from Neonatal diabetes (diagnosed less than 6 months);Neonatal diabetes;Neonatal diabetes diagnosed <6 months to Neonatal diabetes (diagnosed less than 6 months); Neonatal diabetes; Neonatal diabetes diagnosed <6 months; GMS R143
Neonatal diabetes v1.8 Ellen McDonagh Panel name changed from Neonatal diabetes diagnosed <6 months to Diabetes - neonatal onset
List of related panels changed from Neonatal diabetes (diagnosed less than 6 months);Neonatal diabetes to Neonatal diabetes (diagnosed less than 6 months);Neonatal diabetes;Neonatal diabetes diagnosed <6 months
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Neonatal diabetes v1.7 ISCA-37442-Gain Louise Daugherty Region: ISCA-37442-Gain was added
Region: ISCA-37442-Gain was added to Neonatal diabetes diagnosed <6 months. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37442-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37442-Gain were set to 10923638; 8842729; 10615957
Phenotypes for Region: ISCA-37442-Gain were set to 601410; Transient neonatal diabetes mellitus; Transient neonatal diabetes
Neonatal diabetes Rebecca Foulger promoted panel to version 1
Neonatal diabetes AGPAT2 Louise Daugherty reviewed AGPAT2
Neonatal diabetes NKX2-2 Rebecca Foulger marked NKX2-2 as ready
Neonatal diabetes NKX2-2 Rebecca Foulger classified NKX2-2 as green
Neonatal diabetes BSCL2 Rebecca Foulger marked BSCL2 as ready
Neonatal diabetes BSCL2 Rebecca Foulger classified BSCL2 as green
Neonatal diabetes INSR Rebecca Foulger marked INSR as ready
Neonatal diabetes INSR Rebecca Foulger classified INSR as green
Neonatal diabetes GATA4 Rebecca Foulger marked GATA4 as ready
Neonatal diabetes GATA4 Rebecca Foulger classified GATA4 as green
Neonatal diabetes STAT3 Rebecca Foulger marked STAT3 as ready
Neonatal diabetes STAT3 Rebecca Foulger classified STAT3 as green
Neonatal diabetes NEUROG3 Rebecca Foulger marked NEUROG3 as ready
Neonatal diabetes NEUROG3 Rebecca Foulger classified NEUROG3 as green
Neonatal diabetes NEUROD1 Rebecca Foulger marked NEUROD1 as ready
Neonatal diabetes NEUROD1 Rebecca Foulger classified NEUROD1 as green
Neonatal diabetes MNX1 Rebecca Foulger marked MNX1 as ready
Neonatal diabetes MNX1 Rebecca Foulger classified MNX1 as green
Neonatal diabetes HNF1B Rebecca Foulger marked HNF1B as ready
Neonatal diabetes HNF1B Rebecca Foulger classified HNF1B as green
Neonatal diabetes STAT3 Elisa De Franco commented on STAT3
Neonatal diabetes NKX2-2 Elisa De Franco commented on NKX2-2
Neonatal diabetes NEUROG3 Elisa De Franco reviewed NEUROG3
Neonatal diabetes NEUROD1 Elisa De Franco commented on NEUROD1
Neonatal diabetes MNX1 Elisa De Franco commented on MNX1
Neonatal diabetes HNF1B Elisa De Franco commented on HNF1B
Neonatal diabetes GATA4 Elisa De Franco commented on GATA4
Neonatal diabetes CISD2 Elisa De Franco reviewed CISD2
Neonatal diabetes AGPAT2 Elisa De Franco reviewed AGPAT2
Neonatal diabetes WFS1 Elisa De Franco reviewed WFS1
Neonatal diabetes LRBA Elisa De Franco reviewed LRBA
Neonatal diabetes IL2RA Elisa De Franco reviewed IL2RA
Neonatal diabetes GCK Elisa De Franco reviewed GCK
Neonatal diabetes IL2RA Rebecca Foulger marked IL2RA as ready
Neonatal diabetes IL2RA Rebecca Foulger classified IL2RA as green
Neonatal diabetes GATA6 Rebecca Foulger edited their review of GATA6
Neonatal diabetes LRBA Rebecca Foulger classified LRBA as green
Neonatal diabetes CISD2 Rebecca Foulger marked CISD2 as ready
Neonatal diabetes CISD2 Rebecca Foulger classified CISD2 as red
Neonatal diabetes CISD2 Rebecca Foulger added CISD2 to panel
Neonatal diabetes CISD2 Rebecca Foulger reviewed CISD2
Neonatal diabetes GCK Rebecca Foulger marked GCK as ready
Neonatal diabetes GCK Rebecca Foulger classified GCK as green
Neonatal diabetes GCK Rebecca Foulger commented on GCK
Neonatal diabetes WFS1 Rebecca Foulger marked WFS1 as ready
Neonatal diabetes WFS1 Rebecca Foulger classified WFS1 as green
Neonatal diabetes WFS1 Rebecca Foulger added WFS1 to panel
Neonatal diabetes WFS1 Rebecca Foulger reviewed WFS1
Neonatal diabetes INSR Rebecca Foulger added INSR to panel
Neonatal diabetes INSR Rebecca Foulger reviewed INSR
Neonatal diabetes BSCL2 Rebecca Foulger commented on BSCL2
Neonatal diabetes BSCL2 Rebecca Foulger commented on BSCL2
Neonatal diabetes LRBA Rebecca Foulger marked LRBA as ready
Neonatal diabetes LRBA Rebecca Foulger classified LRBA as red
Neonatal diabetes LRBA Rebecca Foulger commented on LRBA
Neonatal diabetes AGPAT2 Rebecca Foulger marked AGPAT2 as ready
Neonatal diabetes AGPAT2 Rebecca Foulger classified AGPAT2 as red
Neonatal diabetes IL2RA Rebecca Foulger commented on IL2RA
Neonatal diabetes NEUROG3 Rebecca Foulger commented on NEUROG3
Neonatal diabetes AGPAT2 Rebecca Foulger edited their review of AGPAT2
Neonatal diabetes AGPAT2 Rebecca Foulger commented on AGPAT2
Neonatal diabetes LRBA Rebecca Foulger commented on LRBA
Neonatal diabetes LRBA Rebecca Foulger edited their review of LRBA
Neonatal diabetes LRBA Rebecca Foulger commented on LRBA
Neonatal diabetes STAT3 Rebecca Foulger commented on STAT3
Neonatal diabetes SLC19A2 Rebecca Foulger marked SLC19A2 as ready
Neonatal diabetes RFX6 Rebecca Foulger marked RFX6 as ready
Neonatal diabetes PDX1 Rebecca Foulger marked PDX1 as ready
Neonatal diabetes SLC2A2 Rebecca Foulger marked SLC2A2 as ready
Neonatal diabetes SLC2A2 Rebecca Foulger classified SLC2A2 as green
Neonatal diabetes SLC2A2 Rebecca Foulger commented on SLC2A2
Neonatal diabetes SLC19A2 Rebecca Foulger commented on SLC19A2
Neonatal diabetes SLC19A2 Rebecca Foulger edited their review of SLC19A2
Neonatal diabetes SLC19A2 Rebecca Foulger classified SLC19A2 as green
Neonatal diabetes SLC19A2 Rebecca Foulger commented on SLC19A2
Neonatal diabetes RFX6 Rebecca Foulger classified RFX6 as green
Neonatal diabetes RFX6 Rebecca Foulger commented on RFX6
Neonatal diabetes RFX6 Rebecca Foulger commented on RFX6
Neonatal diabetes PDX1 Rebecca Foulger classified PDX1 as green
Neonatal diabetes PDX1 Rebecca Foulger commented on PDX1
Neonatal diabetes PDX1 Rebecca Foulger commented on PDX1
Neonatal diabetes PDX1 Rebecca Foulger commented on PDX1
Neonatal diabetes PDX1 Rebecca Foulger edited their review of PDX1
Neonatal diabetes PDX1 Rebecca Foulger commented on PDX1
Neonatal diabetes NEUROG3 Rebecca Foulger commented on NEUROG3
Neonatal diabetes NEUROG3 Rebecca Foulger commented on NEUROG3
Neonatal diabetes NEUROD1 Rebecca Foulger edited their review of NEUROD1
Neonatal diabetes NEUROD1 Rebecca Foulger commented on NEUROD1
Neonatal diabetes NKX2-2 Rebecca Foulger commented on NKX2-2
Neonatal diabetes MNX1 Rebecca Foulger commented on MNX1
Neonatal diabetes IER3IP1 Rebecca Foulger marked IER3IP1 as ready
Neonatal diabetes IER3IP1 Rebecca Foulger classified IER3IP1 as green
Neonatal diabetes IER3IP1 Rebecca Foulger classified IER3IP1 as red
Neonatal diabetes IER3IP1 Rebecca Foulger commented on IER3IP1
Neonatal diabetes HNF1B Rebecca Foulger commented on HNF1B
Neonatal diabetes HNF1B Rebecca Foulger commented on HNF1B
Neonatal diabetes HNF1B Rebecca Foulger commented on HNF1B
Neonatal diabetes GATA6 Rebecca Foulger marked GATA6 as ready
Neonatal diabetes GATA6 Rebecca Foulger classified GATA6 as green
Neonatal diabetes GATA6 Rebecca Foulger commented on GATA6
Neonatal diabetes GATA4 Rebecca Foulger commented on GATA4
Neonatal diabetes FOXP3 Rebecca Foulger marked FOXP3 as ready
Neonatal diabetes GATA4 Rebecca Foulger commented on GATA4
Neonatal diabetes GATA4 Rebecca Foulger commented on GATA4
Neonatal diabetes FOXP3 Rebecca Foulger classified FOXP3 as green
Neonatal diabetes FOXP3 Rebecca Foulger commented on FOXP3
Neonatal diabetes EIF2AK3 Rebecca Foulger marked EIF2AK3 as ready
Neonatal diabetes EIF2AK3 Rebecca Foulger classified EIF2AK3 as green
Neonatal diabetes EIF2AK3 Rebecca Foulger commented on EIF2AK3
Neonatal diabetes ZFP57 Rebecca Foulger marked ZFP57 as ready
Neonatal diabetes ZFP57 Rebecca Foulger classified ZFP57 as green
Neonatal diabetes ZFP57 Rebecca Foulger commented on ZFP57
Neonatal diabetes PTF1A Rebecca Foulger marked PTF1A as ready
Neonatal diabetes PTF1A Rebecca Foulger classified PTF1A as green
Neonatal diabetes PTF1A Rebecca Foulger commented on PTF1A
Neonatal diabetes KCNJ11 Rebecca Foulger marked KCNJ11 as ready
Neonatal diabetes KCNJ11 Rebecca Foulger classified KCNJ11 as green
Neonatal diabetes KCNJ11 Rebecca Foulger commented on KCNJ11
Neonatal diabetes INS Rebecca Foulger marked INS as ready
Neonatal diabetes INS Rebecca Foulger classified INS as green
Neonatal diabetes INS Rebecca Foulger commented on INS
Neonatal diabetes GLIS3 Rebecca Foulger marked GLIS3 as ready
Neonatal diabetes GLIS3 Rebecca Foulger classified GLIS3 as green
Neonatal diabetes GLIS3 Rebecca Foulger commented on GLIS3
Neonatal diabetes ABCC8 Rebecca Foulger marked ABCC8 as ready
Neonatal diabetes ABCC8 Rebecca Foulger classified ABCC8 as green
Neonatal diabetes ABCC8 Rebecca Foulger commented on ABCC8