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Severe Paediatric Disorders v1.125 ACO2 Sarah Leigh Added comment: Comment on mode of inheritance: PMID: 34056600 reports 61 cases of genetically unsolved inherited optic neuropathies who were harbouring variants in ACO2, of which 50 carried dominant variants (the remaining 11 cases were biallelic). The authors state that this is the first report of monoallelic pathogenic ACO2 variants resulting in dominant optic atrophy.
Severe Paediatric Disorders v1.116 ALB Arina Puzriakova Phenotypes for gene: ALB were changed from Analbuminemia, 616000; [Dysalbuminemic hyperthyroxinemia], 615999 to Analbuminemia, OMIM:616000; [Dysalbuminemic hyperthyroxinemia], OMIM:615999; ?[Dysalbuminemic hypertriiodothyroninemia], OMIM:615999
Severe Paediatric Disorders v0.12 NIN Louise Daugherty reviewed gene: NIN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 NIN Louise Daugherty Publications for gene NIN were updated from to 30847515
Severe Paediatric Disorders v0.10 NIN Louise Daugherty Added phenotypes ?Seckel syndrome 7, 614851 for gene: NIN
Severe Paediatric Disorders v0.10 SYN1 Louise Daugherty Added phenotypes Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 for gene: SYN1
Severe Paediatric Disorders v0.10 QDPR Louise Daugherty Added phenotypes Hyperphenylalaninemia, BH4-deficient, C, 261630 for gene: QDPR
Severe Paediatric Disorders v0.10 PTS Louise Daugherty Added phenotypes Hyperphenylalaninemia, BH4-deficient, A, 261640 for gene: PTS
Severe Paediatric Disorders v0.10 PQBP1 Louise Daugherty Added phenotypes Renpenning syndrome, 309500 for gene: PQBP1
Severe Paediatric Disorders v0.10 PDGFB Louise Daugherty Added phenotypes Meningioma, SIS-related, 607174; Basal ganglia calcification, idiopathic, 5, 615483; Dermatofibrosarcoma protuberans, 607907 for gene: PDGFB
Severe Paediatric Disorders v0.10 PCBD1 Louise Daugherty Added phenotypes Hyperphenylalaninemia, BH4-deficient, D, 264070 for gene: PCBD1
Severe Paediatric Disorders v0.10 PAX6 Louise Daugherty Added phenotypes Anterior segment dysgenesis 5, multiple subtypes, 604229; Keratitis, 148190; Cataract with late-onset corneal dystrophy, 106210; ?Coloboma, ocular, 120200; Optic nerve hypoplasia, 165550; ?Coloboma of optic nerve, 120430; Foveal hypoplasia 1, 136520; Aniridia, 106210; ?Morning glory disc anomaly, 120430 for gene: PAX6
Severe Paediatric Disorders v0.10 NOTCH3 Louise Daugherty Added phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310; Lateral meningocele syndrome, 130720; ?Myofibromatosis, infantile 2, 615293 for gene: NOTCH3
Severe Paediatric Disorders v0.10 MAT1A Louise Daugherty Added phenotypes Methionine adenosyltransferase deficiency, autosomal recessive, 250850; Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 for gene: MAT1A
Severe Paediatric Disorders v0.10 KYNU Louise Daugherty Added phenotypes ?Hydroxykynureninuria, 236800; Vertebral, cardiac, renal, and limb defects syndrome 2, 617661 for gene: KYNU
Severe Paediatric Disorders v0.10 KNG1 Louise Daugherty Added phenotypes Kininogen deficiency, 228960 for gene: KNG1
Severe Paediatric Disorders v0.10 HNF1B Louise Daugherty Added phenotypes Diabetes mellitus, noninsulin-dependent, 125853; Renal cysts and diabetes syndrome, 137920 for gene: HNF1B
Severe Paediatric Disorders v0.10 GCK Louise Daugherty Added phenotypes Diabetes mellitus, permanent neonatal, 606176; MODY, type II, 125851; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Diabetes mellitus, noninsulin-dependent, late onset, 125853 for gene: GCK
Severe Paediatric Disorders v0.10 GCH1 Louise Daugherty Added phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Hyperphenylalaninemia, BH4-deficient, B, 233910 for gene: GCH1
Severe Paediatric Disorders v0.10 FLAD1 Louise Daugherty Added phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 for gene: FLAD1
Severe Paediatric Disorders v0.10 DNAJC12 Louise Daugherty Added phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 for gene: DNAJC12
Severe Paediatric Disorders v0.10 CTH Louise Daugherty Added phenotypes Homocysteine, total plasma, elevated; Cystathioninuria, 219500 for gene: CTH
Severe Paediatric Disorders v0.10 ASL Louise Daugherty Added phenotypes Argininosuccinic aciduria, 207900 for gene: ASL
Severe Paediatric Disorders v0.10 ARG1 Louise Daugherty Added phenotypes Argininemia, 207800 for gene: ARG1
Severe Paediatric Disorders v0.10 APRT Louise Daugherty Added phenotypes Adenine phosphoribosyltransferase deficiency, 614723 for gene: APRT
Severe Paediatric Disorders v0.10 ADK Louise Daugherty Added phenotypes Hypermethioninemia due to adenosine kinase deficiency, 614300 for gene: ADK
Severe Paediatric Disorders v0.10 ABCC8 Louise Daugherty Added phenotypes Diabetes mellitus, transient neonatal 2, 610374; Hypoglycemia of infancy, leucine-sensitive, 240800; Diabetes mellitus, permanent neonatal, 606176; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Diabetes mellitus, noninsulin-dependent, 125853 for gene: ABCC8
Severe Paediatric Disorders v0.9 NIN Louise Daugherty Added phenotypes ?Seckel syndrome 7, 614851 for gene: NIN
Severe Paediatric Disorders v0.9 SYN1 Louise Daugherty Added phenotypes Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 for gene: SYN1
Severe Paediatric Disorders v0.9 QDPR Louise Daugherty Added phenotypes Hyperphenylalaninemia, BH4-deficient, C, 261630 for gene: QDPR
Severe Paediatric Disorders v0.9 PTS Louise Daugherty Added phenotypes Hyperphenylalaninemia, BH4-deficient, A, 261640 for gene: PTS
Severe Paediatric Disorders v0.9 PQBP1 Louise Daugherty Added phenotypes Renpenning syndrome, 309500 for gene: PQBP1
Severe Paediatric Disorders v0.9 PDGFB Louise Daugherty Added phenotypes Meningioma, SIS-related, 607174; Basal ganglia calcification, idiopathic, 5, 615483; Dermatofibrosarcoma protuberans, 607907 for gene: PDGFB
Severe Paediatric Disorders v0.9 PCBD1 Louise Daugherty Added phenotypes Hyperphenylalaninemia, BH4-deficient, D, 264070 for gene: PCBD1
Severe Paediatric Disorders v0.9 PAX6 Louise Daugherty Added phenotypes Anterior segment dysgenesis 5, multiple subtypes, 604229; Keratitis, 148190; Cataract with late-onset corneal dystrophy, 106210; ?Coloboma, ocular, 120200; Optic nerve hypoplasia, 165550; ?Coloboma of optic nerve, 120430; Foveal hypoplasia 1, 136520; Aniridia, 106210; ?Morning glory disc anomaly, 120430 for gene: PAX6
Severe Paediatric Disorders v0.9 NOTCH3 Louise Daugherty Added phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310; Lateral meningocele syndrome, 130720; ?Myofibromatosis, infantile 2, 615293 for gene: NOTCH3
Severe Paediatric Disorders v0.9 MAT1A Louise Daugherty Added phenotypes Methionine adenosyltransferase deficiency, autosomal recessive, 250850; Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 for gene: MAT1A
Severe Paediatric Disorders v0.9 KYNU Louise Daugherty Added phenotypes ?Hydroxykynureninuria, 236800; Vertebral, cardiac, renal, and limb defects syndrome 2, 617661 for gene: KYNU
Severe Paediatric Disorders v0.9 KNG1 Louise Daugherty Added phenotypes Kininogen deficiency, 228960 for gene: KNG1
Severe Paediatric Disorders v0.9 HNF1B Louise Daugherty Added phenotypes Diabetes mellitus, noninsulin-dependent, 125853; Renal cysts and diabetes syndrome, 137920 for gene: HNF1B
Severe Paediatric Disorders v0.9 GCK Louise Daugherty Added phenotypes Diabetes mellitus, permanent neonatal, 606176; MODY, type II, 125851; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Diabetes mellitus, noninsulin-dependent, late onset, 125853 for gene: GCK
Severe Paediatric Disorders v0.9 GCH1 Louise Daugherty Added phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Hyperphenylalaninemia, BH4-deficient, B, 233910 for gene: GCH1
Severe Paediatric Disorders v0.9 FLAD1 Louise Daugherty Added phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 for gene: FLAD1
Severe Paediatric Disorders v0.9 DNAJC12 Louise Daugherty Added phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 for gene: DNAJC12
Severe Paediatric Disorders v0.9 CTH Louise Daugherty Added phenotypes Homocysteine, total plasma, elevated; Cystathioninuria, 219500 for gene: CTH
Severe Paediatric Disorders v0.9 ASL Louise Daugherty Added phenotypes Argininosuccinic aciduria, 207900 for gene: ASL
Severe Paediatric Disorders v0.9 ARG1 Louise Daugherty Added phenotypes Argininemia, 207800 for gene: ARG1
Severe Paediatric Disorders v0.9 APRT Louise Daugherty Added phenotypes Adenine phosphoribosyltransferase deficiency, 614723 for gene: APRT
Severe Paediatric Disorders v0.9 ADK Louise Daugherty Added phenotypes Hypermethioninemia due to adenosine kinase deficiency, 614300 for gene: ADK
Severe Paediatric Disorders v0.9 ABCC8 Louise Daugherty Added phenotypes Diabetes mellitus, transient neonatal 2, 610374; Hypoglycemia of infancy, leucine-sensitive, 240800; Diabetes mellitus, permanent neonatal, 606176; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Diabetes mellitus, noninsulin-dependent, 125853 for gene: ABCC8
Severe Paediatric Disorders v0.9 NIN Louise Daugherty Added phenotypes ?Seckel syndrome 7, 614851 for gene: NIN
Severe Paediatric Disorders v0.9 SYN1 Louise Daugherty Added phenotypes Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 for gene: SYN1
Severe Paediatric Disorders v0.9 QDPR Louise Daugherty Added phenotypes Hyperphenylalaninemia, BH4-deficient, C, 261630 for gene: QDPR
Severe Paediatric Disorders v0.9 PTS Louise Daugherty Added phenotypes Hyperphenylalaninemia, BH4-deficient, A, 261640 for gene: PTS
Severe Paediatric Disorders v0.9 PQBP1 Louise Daugherty Added phenotypes Renpenning syndrome, 309500 for gene: PQBP1
Severe Paediatric Disorders v0.9 PDGFB Louise Daugherty Added phenotypes Meningioma, SIS-related, 607174; Basal ganglia calcification, idiopathic, 5, 615483; Dermatofibrosarcoma protuberans, 607907 for gene: PDGFB
Severe Paediatric Disorders v0.9 PCBD1 Louise Daugherty Added phenotypes Hyperphenylalaninemia, BH4-deficient, D, 264070 for gene: PCBD1
Severe Paediatric Disorders v0.9 PAX6 Louise Daugherty Added phenotypes Anterior segment dysgenesis 5, multiple subtypes, 604229; Keratitis, 148190; Cataract with late-onset corneal dystrophy, 106210; ?Coloboma, ocular, 120200; Optic nerve hypoplasia, 165550; ?Coloboma of optic nerve, 120430; Foveal hypoplasia 1, 136520; Aniridia, 106210; ?Morning glory disc anomaly, 120430 for gene: PAX6
Severe Paediatric Disorders v0.9 NOTCH3 Louise Daugherty Added phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310; Lateral meningocele syndrome, 130720; ?Myofibromatosis, infantile 2, 615293 for gene: NOTCH3
Severe Paediatric Disorders v0.9 MAT1A Louise Daugherty Added phenotypes Methionine adenosyltransferase deficiency, autosomal recessive, 250850; Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 for gene: MAT1A
Severe Paediatric Disorders v0.9 KYNU Louise Daugherty Added phenotypes ?Hydroxykynureninuria, 236800; Vertebral, cardiac, renal, and limb defects syndrome 2, 617661 for gene: KYNU
Severe Paediatric Disorders v0.9 KNG1 Louise Daugherty Added phenotypes Kininogen deficiency, 228960 for gene: KNG1
Severe Paediatric Disorders v0.9 HNF1B Louise Daugherty Added phenotypes Diabetes mellitus, noninsulin-dependent, 125853; Renal cysts and diabetes syndrome, 137920 for gene: HNF1B
Severe Paediatric Disorders v0.9 GCK Louise Daugherty Added phenotypes Diabetes mellitus, permanent neonatal, 606176; MODY, type II, 125851; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Diabetes mellitus, noninsulin-dependent, late onset, 125853 for gene: GCK
Severe Paediatric Disorders v0.9 GCH1 Louise Daugherty Added phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Hyperphenylalaninemia, BH4-deficient, B, 233910 for gene: GCH1
Severe Paediatric Disorders v0.9 FLAD1 Louise Daugherty Added phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 for gene: FLAD1
Severe Paediatric Disorders v0.9 DNAJC12 Louise Daugherty Added phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 for gene: DNAJC12
Severe Paediatric Disorders v0.9 CTH Louise Daugherty Added phenotypes Homocysteine, total plasma, elevated; Cystathioninuria, 219500 for gene: CTH
Severe Paediatric Disorders v0.9 ASL Louise Daugherty Added phenotypes Argininosuccinic aciduria, 207900 for gene: ASL
Severe Paediatric Disorders v0.9 ARG1 Louise Daugherty Added phenotypes Argininemia, 207800 for gene: ARG1
Severe Paediatric Disorders v0.9 APRT Louise Daugherty Added phenotypes Adenine phosphoribosyltransferase deficiency, 614723 for gene: APRT
Severe Paediatric Disorders v0.9 ADK Louise Daugherty Added phenotypes Hypermethioninemia due to adenosine kinase deficiency, 614300 for gene: ADK
Severe Paediatric Disorders v0.9 ABCC8 Louise Daugherty Added phenotypes Diabetes mellitus, transient neonatal 2, 610374; Hypoglycemia of infancy, leucine-sensitive, 240800; Diabetes mellitus, permanent neonatal, 606176; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Diabetes mellitus, noninsulin-dependent, 125853 for gene: ABCC8
Severe Paediatric Disorders v0.8 NIN Louise Daugherty Added phenotypes ?Seckel syndrome 7, 614851 for gene: NIN
Severe Paediatric Disorders v0.8 SYN1 Louise Daugherty Added phenotypes Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 for gene: SYN1
Severe Paediatric Disorders v0.8 QDPR Louise Daugherty Added phenotypes Hyperphenylalaninemia, BH4-deficient, C, 261630 for gene: QDPR
Severe Paediatric Disorders v0.8 PTS Louise Daugherty Added phenotypes Hyperphenylalaninemia, BH4-deficient, A, 261640 for gene: PTS
Severe Paediatric Disorders v0.8 PQBP1 Louise Daugherty Added phenotypes Renpenning syndrome, 309500 for gene: PQBP1
Severe Paediatric Disorders v0.8 PDGFB Louise Daugherty Added phenotypes Meningioma, SIS-related, 607174; Dermatofibrosarcoma protuberans, 607907; Basal ganglia calcification, idiopathic, 5, 615483 for gene: PDGFB
Severe Paediatric Disorders v0.8 PCBD1 Louise Daugherty Added phenotypes Hyperphenylalaninemia, BH4-deficient, D, 264070 for gene: PCBD1
Severe Paediatric Disorders v0.8 PAX6 Louise Daugherty Added phenotypes Keratitis, 148190; Anterior segment dysgenesis 5, multiple subtypes, 604229; ?Coloboma of optic nerve, 120430; ?Coloboma, ocular, 120200; Foveal hypoplasia 1, 136520; ?Morning glory disc anomaly, 120430; Aniridia, 106210; Optic nerve hypoplasia, 165550; Cataract with late-onset corneal dystrophy, 106210 for gene: PAX6
Severe Paediatric Disorders v0.8 NOTCH3 Louise Daugherty Added phenotypes ?Myofibromatosis, infantile 2, 615293; Lateral meningocele syndrome, 130720; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 for gene: NOTCH3
Severe Paediatric Disorders v0.8 MAT1A Louise Daugherty Added phenotypes Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850; Methionine adenosyltransferase deficiency, autosomal recessive, 250850 for gene: MAT1A
Severe Paediatric Disorders v0.8 KYNU Louise Daugherty Added phenotypes Vertebral, cardiac, renal, and limb defects syndrome 2, 617661; ?Hydroxykynureninuria, 236800 for gene: KYNU
Severe Paediatric Disorders v0.8 KNG1 Louise Daugherty Added phenotypes Kininogen deficiency, 228960 for gene: KNG1
Severe Paediatric Disorders v0.8 HNF1B Louise Daugherty Added phenotypes Renal cysts and diabetes syndrome, 137920; Diabetes mellitus, noninsulin-dependent, 125853 for gene: HNF1B
Severe Paediatric Disorders v0.8 GCK Louise Daugherty Added phenotypes Hyperinsulinemic hypoglycemia, familial, 3, 602485; MODY, type II, 125851; Diabetes mellitus, noninsulin-dependent, late onset, 125853; Diabetes mellitus, permanent neonatal, 606176 for gene: GCK
Severe Paediatric Disorders v0.8 GCH1 Louise Daugherty Added phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Hyperphenylalaninemia, BH4-deficient, B, 233910 for gene: GCH1
Severe Paediatric Disorders v0.8 FLAD1 Louise Daugherty Added phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 for gene: FLAD1
Severe Paediatric Disorders v0.8 DNAJC12 Louise Daugherty Added phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 for gene: DNAJC12
Severe Paediatric Disorders v0.8 CTH Louise Daugherty Added phenotypes Cystathioninuria, 219500; Homocysteine, total plasma, elevated for gene: CTH
Severe Paediatric Disorders v0.8 ASL Louise Daugherty Added phenotypes Argininosuccinic aciduria, 207900 for gene: ASL
Severe Paediatric Disorders v0.8 ARG1 Louise Daugherty Added phenotypes Argininemia, 207800 for gene: ARG1
Severe Paediatric Disorders v0.8 APRT Louise Daugherty Added phenotypes Adenine phosphoribosyltransferase deficiency, 614723 for gene: APRT
Severe Paediatric Disorders v0.8 ADK Louise Daugherty Added phenotypes Hypermethioninemia due to adenosine kinase deficiency, 614300 for gene: ADK
Severe Paediatric Disorders v0.8 ABCC8 Louise Daugherty Added phenotypes Hypoglycemia of infancy, leucine-sensitive, 240800; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Diabetes mellitus, noninsulin-dependent, 125853; Diabetes mellitus, permanent neonatal, 606176; Diabetes mellitus, transient neonatal 2, 610374 for gene: ABCC8
Severe Paediatric Disorders v0.8 NIN Louise Daugherty Mode of inheritance for gene NIN was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Seckel syndrome 7, 614851 for gene: NIN
Severe Paediatric Disorders v0.8 SYN1 Louise Daugherty Mode of inheritance for gene SYN1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 for gene: SYN1
Severe Paediatric Disorders v0.7 NIN Louise Daugherty Source Next Generation Children Project was added to NIN.
Severe Paediatric Disorders v0.5 NIN Louise Daugherty Source Expert Review Amber was added to NIN.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Severe Paediatric Disorders v0.4 NIN Louise Daugherty gene: NIN was added
gene: NIN was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: NIN was set to