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| 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 v2.40 | 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. |
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| 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 v2.18 | 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 |
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| 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 |
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| 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 |
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| 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 v2.13 | 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 |
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| 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 v2.11 | 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 |
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| 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 v2.8 | 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 v2.5 | 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 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 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 v1.35 | 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 v1.28 | 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 v1.13 | 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 | 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 v1.12 | INSR |
Ivone Leong Source NHS GMS was added to INSR. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| 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) |
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| Neonatal diabetes | INSR | Rebecca Foulger marked INSR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes | INSR | Rebecca Foulger classified INSR as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes | INSR | Rebecca Foulger added INSR to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes | INSR | Rebecca Foulger reviewed INSR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||