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Severe Paediatric Disorders v1.127 SKIV2L Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for SKIV2L is SKIC2.; to: Added new-gene-name tag, new approved HGNC gene symbol for SKIV2L is SKIC2.
Severe Paediatric Disorders v1.127 TTC37 Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for TTC37 is SKIC3.; to: Added new-gene-name tag, new approved HGNC gene symbol for TTC37 is SKIC3.
Severe Paediatric Disorders v1.127 SKIV2L Sarah Leigh Tag new-gene-name tag was added to gene: SKIV2L.
Severe Paediatric Disorders v1.127 SKIV2L Sarah Leigh commented on gene: SKIV2L
Severe Paediatric Disorders v1.33 TRIP4 Arina Puzriakova Phenotypes for gene: TRIP4 were changed from ?Muscular dystrophy, congenital, Davignon-Chauveau type, 617066; Spinal muscular atrophy with congenital bone fractures 1, 616866 to Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866; Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209; Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806; ?Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome, MONDO:0014896
Severe Paediatric Disorders v1.26 KCNMA1 Arina Puzriakova Phenotypes for gene: KCNMA1 were changed from Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446; Cerebellar atrophy, developmental delay, and seizures, 617643 to Cerebellar atrophy, developmental delay, and seizures, OMIM:617643; Cerebellar atrophy, developmental delay, and seizures, MONDO:0060551; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446; Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276; Liang-Wang syndrome, OMIM:618729; Liang-Wang syndrome, MONDO:0032886
Severe Paediatric Disorders v0.12 SKIV2L Louise Daugherty reviewed gene: SKIV2L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 SKI Louise Daugherty reviewed gene: SKI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C11orf70 Louise Daugherty edited their review of gene: C11orf70: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CFAP300; Recommended initial gene rating: Green List (high evidence); Phenotypes: Ciliary dyskinesia, primary, 38, 618063 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.11 SKIV2L Louise Daugherty Publications for gene SKIV2L were updated from to 30847515
Severe Paediatric Disorders v0.11 SKI Louise Daugherty Publications for gene SKI were updated from to 30847515
Severe Paediatric Disorders v0.10 ADAM17 Louise Daugherty Added phenotypes ?Inflammatory skin and bowel disease, neonatal, 1, 614328 for gene: ADAM17
Severe Paediatric Disorders v0.10 TUBB Louise Daugherty Added phenotypes Symmetric circumferential skin creases, congenital, 1, 156610; Cortical dysplasia, complex, with other brain malformations 6, 615771 for gene: TUBB
Severe Paediatric Disorders v0.10 TRPV4 Louise Daugherty Added phenotypes Digital arthropathy-brachydactyly, familial, 606835; Metatropic dysplasia, 156530; [Sodium serum level QTL 1], 613508; Brachyolmia type 3, 113500; Hereditary motor and sensory neuropathy, type IIc, 606071; Scapuloperoneal spinal muscular atrophy, 181405; Spinal muscular atrophy, distal, congenital nonprogressive, 600175; Spondylometaphyseal dysplasia, Kozlowski type, 184252; SED, Maroteaux type, 184095; ?Avascular necrosis of femoral head, primary, 2, 617383; Parastremmatic dwarfism, 168400 for gene: TRPV4
Severe Paediatric Disorders v0.10 TGM5 Louise Daugherty Added phenotypes Peeling skin syndrome 2, 609796 for gene: TGM5
Severe Paediatric Disorders v0.10 SPAG1 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 28, 615505 for gene: SPAG1
Severe Paediatric Disorders v0.10 SKIV2L Louise Daugherty Added phenotypes Trichohepatoenteric syndrome 2, 614602 for gene: SKIV2L
Severe Paediatric Disorders v0.10 SKI Louise Daugherty Added phenotypes Shprintzen-Goldberg syndrome, 182212 for gene: SKI
Severe Paediatric Disorders v0.10 RSPH9 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 12, 612650 for gene: RSPH9
Severe Paediatric Disorders v0.10 RSPH4A Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 11, 612649 for gene: RSPH4A
Severe Paediatric Disorders v0.10 RSPH3 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 32, 616481 for gene: RSPH3
Severe Paediatric Disorders v0.10 RSPH1 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 24, 615481 for gene: RSPH1
Severe Paediatric Disorders v0.10 PTDSS1 Louise Daugherty Added phenotypes Lenz-Majewski hyperostotic dwarfism, 151050 for gene: PTDSS1
Severe Paediatric Disorders v0.10 PRRT2 Louise Daugherty Added phenotypes Episodic kinesigenic dyskinesia 1, 128200; Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Seizures, benign familial infantile, 2, 605751 for gene: PRRT2
Severe Paediatric Disorders v0.10 PNKD Louise Daugherty Added phenotypes Paroxysmal nonkinesigenic dyskinesia 1, 118800 for gene: PNKD
Severe Paediatric Disorders v0.10 PDE10A Louise Daugherty Added phenotypes Dyskinesia, limb and orofacial, infantile-onset, 616921; Striatal degeneration, autosomal dominant, 616922 for gene: PDE10A
Severe Paediatric Disorders v0.10 NDUFB11 Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 3, 300952; ?Mitochondrial complex I deficiency, nuclear type 30, 301021 for gene: NDUFB11
Severe Paediatric Disorders v0.10 MAPRE2 Louise Daugherty Added phenotypes Symmetric circumferential skin creases, congenital, 2, 616734 for gene: MAPRE2
Severe Paediatric Disorders v0.10 LRRC6 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 19, 614935 for gene: LRRC6
Severe Paediatric Disorders v0.10 KCNMA1 Louise Daugherty Added phenotypes Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446; Cerebellar atrophy, developmental delay, and seizures, 617643 for gene: KCNMA1
Severe Paediatric Disorders v0.10 HYDIN Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 5, 608647 for gene: HYDIN
Severe Paediatric Disorders v0.10 HCCS Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 1, 309801 for gene: HCCS
Severe Paediatric Disorders v0.10 GH1 Louise Daugherty Added phenotypes Growth hormone deficiency, isolated, type IA, 262400; Kowarski syndrome, 262650; Growth hormone deficiency, isolated, type IB, 612781; Growth hormone deficiency, isolated, type II, 173100 for gene: GH1
Severe Paediatric Disorders v0.10 GAS8 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 33, 616726 for gene: GAS8
Severe Paediatric Disorders v0.10 GABBR2 Louise Daugherty Added phenotypes Neurodevelopmental disorder with poor language and loss of hand skills, 617903; Epileptic encephalopathy, early infantile, 59, 617904 for gene: GABBR2
Severe Paediatric Disorders v0.10 FBN1 Louise Daugherty Added phenotypes Weill-Marchesani syndrome 2, dominant, 608328; Ectopia lentis, familial, 129600; Marfan lipodystrophy syndrome, 616914; Geleophysic dysplasia 2, 614185; Stiff skin syndrome, 184900; Marfan syndrome, 154700; MASS syndrome, 604308; Acromicric dysplasia, 102370 for gene: FBN1
Severe Paediatric Disorders v0.10 DSP Louise Daugherty Added phenotypes Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821; Skin fragility-woolly hair syndrome, 607655; Arrhythmogenic right ventricular dysplasia 8, 607450; Keratosis palmoplantaris striata II, 612908; Epidermolysis bullosa, lethal acantholytic, 609638 for gene: DSP
Severe Paediatric Disorders v0.10 DNAI1 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 for gene: DNAI1
Severe Paediatric Disorders v0.10 DNAH9 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 40, 618300 for gene: DNAH9
Severe Paediatric Disorders v0.10 DNAH5 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 for gene: DNAH5
Severe Paediatric Disorders v0.10 DNAH11 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 for gene: DNAH11
Severe Paediatric Disorders v0.10 DNAAF4 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 25, 615482 for gene: DNAAF4
Severe Paediatric Disorders v0.10 DNAAF3 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 2, 606763 for gene: DNAAF3
Severe Paediatric Disorders v0.10 DNAAF1 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 13, 613193 for gene: DNAAF1
Severe Paediatric Disorders v0.10 DEAF1 Louise Daugherty Added phenotypes ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828 for gene: DEAF1
Severe Paediatric Disorders v0.10 COX7B Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 2, 300887 for gene: COX7B
Severe Paediatric Disorders v0.10 C11orf70 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 38, 618063 for gene: C11orf70
Severe Paediatric Disorders v0.10 CDSN Louise Daugherty Added phenotypes Peeling skin syndrome 1, 270300; Hypotrichosis 2, 146520 for gene: CDSN
Severe Paediatric Disorders v0.10 CCNO Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 29, 615872 for gene: CCNO
Severe Paediatric Disorders v0.10 CCDC65 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 27, 615504 for gene: CCDC65
Severe Paediatric Disorders v0.10 CCDC40 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 15, 613808 for gene: CCDC40
Severe Paediatric Disorders v0.10 CCDC39 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 14, 613807 for gene: CCDC39
Severe Paediatric Disorders v0.10 CCDC114 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 20, 615067 for gene: CCDC114
Severe Paediatric Disorders v0.10 CCDC103 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 17, 614679 for gene: CCDC103
Severe Paediatric Disorders v0.10 ATP6V0A2 Louise Daugherty Added phenotypes Cutis laxa, autosomal recessive, type IIA, 219200; Wrinkly skin syndrome, 278250 for gene: ATP6V0A2
Severe Paediatric Disorders v0.10 ARMC4 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 23, 615451 for gene: ARMC4
Severe Paediatric Disorders v0.10 ADCY5 Louise Daugherty Added phenotypes Dyskinesia, familial, with facial myokymia, 606703 for gene: ADCY5
Severe Paediatric Disorders v0.9 ADAM17 Louise Daugherty Added phenotypes ?Inflammatory skin and bowel disease, neonatal, 1, 614328 for gene: ADAM17
Severe Paediatric Disorders v0.9 TUBB Louise Daugherty Added phenotypes Symmetric circumferential skin creases, congenital, 1, 156610; Cortical dysplasia, complex, with other brain malformations 6, 615771 for gene: TUBB
Severe Paediatric Disorders v0.9 TRPV4 Louise Daugherty Added phenotypes Digital arthropathy-brachydactyly, familial, 606835; Metatropic dysplasia, 156530; [Sodium serum level QTL 1], 613508; Brachyolmia type 3, 113500; Hereditary motor and sensory neuropathy, type IIc, 606071; Scapuloperoneal spinal muscular atrophy, 181405; Spinal muscular atrophy, distal, congenital nonprogressive, 600175; Spondylometaphyseal dysplasia, Kozlowski type, 184252; SED, Maroteaux type, 184095; ?Avascular necrosis of femoral head, primary, 2, 617383; Parastremmatic dwarfism, 168400 for gene: TRPV4
Severe Paediatric Disorders v0.9 TGM5 Louise Daugherty Added phenotypes Peeling skin syndrome 2, 609796 for gene: TGM5
Severe Paediatric Disorders v0.9 SPAG1 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 28, 615505 for gene: SPAG1
Severe Paediatric Disorders v0.9 SKIV2L Louise Daugherty Added phenotypes Trichohepatoenteric syndrome 2, 614602 for gene: SKIV2L
Severe Paediatric Disorders v0.9 SKI Louise Daugherty Added phenotypes Shprintzen-Goldberg syndrome, 182212 for gene: SKI
Severe Paediatric Disorders v0.9 RSPH9 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 12, 612650 for gene: RSPH9
Severe Paediatric Disorders v0.9 RSPH4A Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 11, 612649 for gene: RSPH4A
Severe Paediatric Disorders v0.9 RSPH3 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 32, 616481 for gene: RSPH3
Severe Paediatric Disorders v0.9 RSPH1 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 24, 615481 for gene: RSPH1
Severe Paediatric Disorders v0.9 PTDSS1 Louise Daugherty Added phenotypes Lenz-Majewski hyperostotic dwarfism, 151050 for gene: PTDSS1
Severe Paediatric Disorders v0.9 PRRT2 Louise Daugherty Added phenotypes Episodic kinesigenic dyskinesia 1, 128200; Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Seizures, benign familial infantile, 2, 605751 for gene: PRRT2
Severe Paediatric Disorders v0.9 PNKD Louise Daugherty Added phenotypes Paroxysmal nonkinesigenic dyskinesia 1, 118800 for gene: PNKD
Severe Paediatric Disorders v0.9 PDE10A Louise Daugherty Added phenotypes Dyskinesia, limb and orofacial, infantile-onset, 616921; Striatal degeneration, autosomal dominant, 616922 for gene: PDE10A
Severe Paediatric Disorders v0.9 NDUFB11 Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 3, 300952; ?Mitochondrial complex I deficiency, nuclear type 30, 301021 for gene: NDUFB11
Severe Paediatric Disorders v0.9 MAPRE2 Louise Daugherty Added phenotypes Symmetric circumferential skin creases, congenital, 2, 616734 for gene: MAPRE2
Severe Paediatric Disorders v0.9 LRRC6 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 19, 614935 for gene: LRRC6
Severe Paediatric Disorders v0.9 KCNMA1 Louise Daugherty Added phenotypes Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446; Cerebellar atrophy, developmental delay, and seizures, 617643 for gene: KCNMA1
Severe Paediatric Disorders v0.9 HYDIN Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 5, 608647 for gene: HYDIN
Severe Paediatric Disorders v0.9 HCCS Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 1, 309801 for gene: HCCS
Severe Paediatric Disorders v0.9 GH1 Louise Daugherty Added phenotypes Growth hormone deficiency, isolated, type IA, 262400; Kowarski syndrome, 262650; Growth hormone deficiency, isolated, type IB, 612781; Growth hormone deficiency, isolated, type II, 173100 for gene: GH1
Severe Paediatric Disorders v0.9 GAS8 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 33, 616726 for gene: GAS8
Severe Paediatric Disorders v0.9 GABBR2 Louise Daugherty Added phenotypes Neurodevelopmental disorder with poor language and loss of hand skills, 617903; Epileptic encephalopathy, early infantile, 59, 617904 for gene: GABBR2
Severe Paediatric Disorders v0.9 FBN1 Louise Daugherty Added phenotypes Weill-Marchesani syndrome 2, dominant, 608328; Ectopia lentis, familial, 129600; Marfan lipodystrophy syndrome, 616914; Geleophysic dysplasia 2, 614185; Stiff skin syndrome, 184900; Marfan syndrome, 154700; MASS syndrome, 604308; Acromicric dysplasia, 102370 for gene: FBN1
Severe Paediatric Disorders v0.9 DSP Louise Daugherty Added phenotypes Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821; Skin fragility-woolly hair syndrome, 607655; Arrhythmogenic right ventricular dysplasia 8, 607450; Keratosis palmoplantaris striata II, 612908; Epidermolysis bullosa, lethal acantholytic, 609638 for gene: DSP
Severe Paediatric Disorders v0.9 DNAI1 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 for gene: DNAI1
Severe Paediatric Disorders v0.9 DNAH9 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 40, 618300 for gene: DNAH9
Severe Paediatric Disorders v0.9 DNAH5 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 for gene: DNAH5
Severe Paediatric Disorders v0.9 DNAH11 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 for gene: DNAH11
Severe Paediatric Disorders v0.9 DNAAF4 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 25, 615482 for gene: DNAAF4
Severe Paediatric Disorders v0.9 DNAAF3 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 2, 606763 for gene: DNAAF3
Severe Paediatric Disorders v0.9 DNAAF1 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 13, 613193 for gene: DNAAF1
Severe Paediatric Disorders v0.9 DEAF1 Louise Daugherty Added phenotypes ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828 for gene: DEAF1
Severe Paediatric Disorders v0.9 COX7B Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 2, 300887 for gene: COX7B
Severe Paediatric Disorders v0.9 C11orf70 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 38, 618063 for gene: C11orf70
Severe Paediatric Disorders v0.9 CDSN Louise Daugherty Added phenotypes Peeling skin syndrome 1, 270300; Hypotrichosis 2, 146520 for gene: CDSN
Severe Paediatric Disorders v0.9 CCNO Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 29, 615872 for gene: CCNO
Severe Paediatric Disorders v0.9 CCDC65 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 27, 615504 for gene: CCDC65
Severe Paediatric Disorders v0.9 CCDC40 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 15, 613808 for gene: CCDC40
Severe Paediatric Disorders v0.9 CCDC39 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 14, 613807 for gene: CCDC39
Severe Paediatric Disorders v0.9 CCDC114 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 20, 615067 for gene: CCDC114
Severe Paediatric Disorders v0.9 CCDC103 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 17, 614679 for gene: CCDC103
Severe Paediatric Disorders v0.9 ATP6V0A2 Louise Daugherty Added phenotypes Cutis laxa, autosomal recessive, type IIA, 219200; Wrinkly skin syndrome, 278250 for gene: ATP6V0A2
Severe Paediatric Disorders v0.9 ARMC4 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 23, 615451 for gene: ARMC4
Severe Paediatric Disorders v0.9 ADCY5 Louise Daugherty Added phenotypes Dyskinesia, familial, with facial myokymia, 606703 for gene: ADCY5
Severe Paediatric Disorders v0.9 ADAM17 Louise Daugherty Added phenotypes ?Inflammatory skin and bowel disease, neonatal, 1, 614328 for gene: ADAM17
Severe Paediatric Disorders v0.9 TUBB Louise Daugherty Added phenotypes Symmetric circumferential skin creases, congenital, 1, 156610; Cortical dysplasia, complex, with other brain malformations 6, 615771 for gene: TUBB
Severe Paediatric Disorders v0.9 TRPV4 Louise Daugherty Added phenotypes Digital arthropathy-brachydactyly, familial, 606835; Metatropic dysplasia, 156530; [Sodium serum level QTL 1], 613508; Brachyolmia type 3, 113500; Hereditary motor and sensory neuropathy, type IIc, 606071; Scapuloperoneal spinal muscular atrophy, 181405; Spinal muscular atrophy, distal, congenital nonprogressive, 600175; Spondylometaphyseal dysplasia, Kozlowski type, 184252; SED, Maroteaux type, 184095; ?Avascular necrosis of femoral head, primary, 2, 617383; Parastremmatic dwarfism, 168400 for gene: TRPV4
Severe Paediatric Disorders v0.9 TGM5 Louise Daugherty Added phenotypes Peeling skin syndrome 2, 609796 for gene: TGM5
Severe Paediatric Disorders v0.9 SPAG1 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 28, 615505 for gene: SPAG1
Severe Paediatric Disorders v0.9 SKIV2L Louise Daugherty Added phenotypes Trichohepatoenteric syndrome 2, 614602 for gene: SKIV2L
Severe Paediatric Disorders v0.9 SKI Louise Daugherty Added phenotypes Shprintzen-Goldberg syndrome, 182212 for gene: SKI
Severe Paediatric Disorders v0.9 RSPH9 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 12, 612650 for gene: RSPH9
Severe Paediatric Disorders v0.9 RSPH4A Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 11, 612649 for gene: RSPH4A
Severe Paediatric Disorders v0.9 RSPH3 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 32, 616481 for gene: RSPH3
Severe Paediatric Disorders v0.9 RSPH1 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 24, 615481 for gene: RSPH1
Severe Paediatric Disorders v0.9 PTDSS1 Louise Daugherty Added phenotypes Lenz-Majewski hyperostotic dwarfism, 151050 for gene: PTDSS1
Severe Paediatric Disorders v0.9 PRRT2 Louise Daugherty Added phenotypes Episodic kinesigenic dyskinesia 1, 128200; Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Seizures, benign familial infantile, 2, 605751 for gene: PRRT2
Severe Paediatric Disorders v0.9 PNKD Louise Daugherty Added phenotypes Paroxysmal nonkinesigenic dyskinesia 1, 118800 for gene: PNKD
Severe Paediatric Disorders v0.9 PDE10A Louise Daugherty Added phenotypes Dyskinesia, limb and orofacial, infantile-onset, 616921; Striatal degeneration, autosomal dominant, 616922 for gene: PDE10A
Severe Paediatric Disorders v0.9 NDUFB11 Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 3, 300952; ?Mitochondrial complex I deficiency, nuclear type 30, 301021 for gene: NDUFB11
Severe Paediatric Disorders v0.9 MAPRE2 Louise Daugherty Added phenotypes Symmetric circumferential skin creases, congenital, 2, 616734 for gene: MAPRE2
Severe Paediatric Disorders v0.9 LRRC6 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 19, 614935 for gene: LRRC6
Severe Paediatric Disorders v0.9 KCNMA1 Louise Daugherty Added phenotypes Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446; Cerebellar atrophy, developmental delay, and seizures, 617643 for gene: KCNMA1
Severe Paediatric Disorders v0.9 HYDIN Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 5, 608647 for gene: HYDIN
Severe Paediatric Disorders v0.9 HCCS Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 1, 309801 for gene: HCCS
Severe Paediatric Disorders v0.9 GH1 Louise Daugherty Added phenotypes Growth hormone deficiency, isolated, type IA, 262400; Kowarski syndrome, 262650; Growth hormone deficiency, isolated, type IB, 612781; Growth hormone deficiency, isolated, type II, 173100 for gene: GH1
Severe Paediatric Disorders v0.9 GAS8 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 33, 616726 for gene: GAS8
Severe Paediatric Disorders v0.9 GABBR2 Louise Daugherty Added phenotypes Neurodevelopmental disorder with poor language and loss of hand skills, 617903; Epileptic encephalopathy, early infantile, 59, 617904 for gene: GABBR2
Severe Paediatric Disorders v0.9 FBN1 Louise Daugherty Added phenotypes Weill-Marchesani syndrome 2, dominant, 608328; Ectopia lentis, familial, 129600; Marfan lipodystrophy syndrome, 616914; Geleophysic dysplasia 2, 614185; Stiff skin syndrome, 184900; Marfan syndrome, 154700; MASS syndrome, 604308; Acromicric dysplasia, 102370 for gene: FBN1
Severe Paediatric Disorders v0.9 DSP Louise Daugherty Added phenotypes Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821; Skin fragility-woolly hair syndrome, 607655; Arrhythmogenic right ventricular dysplasia 8, 607450; Keratosis palmoplantaris striata II, 612908; Epidermolysis bullosa, lethal acantholytic, 609638 for gene: DSP
Severe Paediatric Disorders v0.9 DNAI1 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 for gene: DNAI1
Severe Paediatric Disorders v0.9 DNAH9 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 40, 618300 for gene: DNAH9
Severe Paediatric Disorders v0.9 DNAH5 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 for gene: DNAH5
Severe Paediatric Disorders v0.9 DNAH11 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 for gene: DNAH11
Severe Paediatric Disorders v0.9 DNAAF4 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 25, 615482 for gene: DNAAF4
Severe Paediatric Disorders v0.9 DNAAF3 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 2, 606763 for gene: DNAAF3
Severe Paediatric Disorders v0.9 DNAAF1 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 13, 613193 for gene: DNAAF1
Severe Paediatric Disorders v0.9 DEAF1 Louise Daugherty Added phenotypes ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828 for gene: DEAF1
Severe Paediatric Disorders v0.9 COX7B Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 2, 300887 for gene: COX7B
Severe Paediatric Disorders v0.9 C11orf70 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 38, 618063 for gene: C11orf70
Severe Paediatric Disorders v0.9 CDSN Louise Daugherty Added phenotypes Peeling skin syndrome 1, 270300; Hypotrichosis 2, 146520 for gene: CDSN
Severe Paediatric Disorders v0.9 CCNO Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 29, 615872 for gene: CCNO
Severe Paediatric Disorders v0.9 CCDC65 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 27, 615504 for gene: CCDC65
Severe Paediatric Disorders v0.9 CCDC40 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 15, 613808 for gene: CCDC40
Severe Paediatric Disorders v0.9 CCDC39 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 14, 613807 for gene: CCDC39
Severe Paediatric Disorders v0.9 CCDC114 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 20, 615067 for gene: CCDC114
Severe Paediatric Disorders v0.9 CCDC103 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 17, 614679 for gene: CCDC103
Severe Paediatric Disorders v0.9 ATP6V0A2 Louise Daugherty Added phenotypes Cutis laxa, autosomal recessive, type IIA, 219200; Wrinkly skin syndrome, 278250 for gene: ATP6V0A2
Severe Paediatric Disorders v0.9 ARMC4 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 23, 615451 for gene: ARMC4
Severe Paediatric Disorders v0.9 ADCY5 Louise Daugherty Added phenotypes Dyskinesia, familial, with facial myokymia, 606703 for gene: ADCY5
Severe Paediatric Disorders v0.8 ADAM17 Louise Daugherty Added phenotypes ?Inflammatory skin and bowel disease, neonatal, 1, 614328 for gene: ADAM17
Severe Paediatric Disorders v0.8 TUBB Louise Daugherty Added phenotypes Symmetric circumferential skin creases, congenital, 1, 156610; Cortical dysplasia, complex, with other brain malformations 6, 615771 for gene: TUBB
Severe Paediatric Disorders v0.8 TRPV4 Louise Daugherty Added phenotypes ?Avascular necrosis of femoral head, primary, 2, 617383; Digital arthropathy-brachydactyly, familial, 606835; Brachyolmia type 3, 113500; Spinal muscular atrophy, distal, congenital nonprogressive, 600175; SED, Maroteaux type, 184095; Scapuloperoneal spinal muscular atrophy, 181405; Parastremmatic dwarfism, 168400; Hereditary motor and sensory neuropathy, type IIc, 606071; [Sodium serum level QTL 1], 613508; Metatropic dysplasia, 156530; Spondylometaphyseal dysplasia, Kozlowski type, 184252 for gene: TRPV4
Severe Paediatric Disorders v0.8 TGM5 Louise Daugherty Added phenotypes Peeling skin syndrome 2, 609796 for gene: TGM5
Severe Paediatric Disorders v0.8 SPAG1 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 28, 615505 for gene: SPAG1
Severe Paediatric Disorders v0.8 SKIV2L Louise Daugherty Added phenotypes Trichohepatoenteric syndrome 2, 614602 for gene: SKIV2L
Severe Paediatric Disorders v0.8 SKI Louise Daugherty Added phenotypes Shprintzen-Goldberg syndrome, 182212 for gene: SKI
Severe Paediatric Disorders v0.8 RSPH9 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 12, 612650 for gene: RSPH9
Severe Paediatric Disorders v0.8 RSPH4A Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 11, 612649 for gene: RSPH4A
Severe Paediatric Disorders v0.8 RSPH3 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 32, 616481 for gene: RSPH3
Severe Paediatric Disorders v0.8 RSPH1 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 24, 615481 for gene: RSPH1
Severe Paediatric Disorders v0.8 PTDSS1 Louise Daugherty Added phenotypes Lenz-Majewski hyperostotic dwarfism, 151050 for gene: PTDSS1
Severe Paediatric Disorders v0.8 PRRT2 Louise Daugherty Added phenotypes Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Seizures, benign familial infantile, 2, 605751; Episodic kinesigenic dyskinesia 1, 128200 for gene: PRRT2
Severe Paediatric Disorders v0.8 PNKD Louise Daugherty Added phenotypes Paroxysmal nonkinesigenic dyskinesia 1, 118800 for gene: PNKD
Severe Paediatric Disorders v0.8 PDE10A Louise Daugherty Added phenotypes Striatal degeneration, autosomal dominant, 616922; Dyskinesia, limb and orofacial, infantile-onset, 616921 for gene: PDE10A
Severe Paediatric Disorders v0.8 NDUFB11 Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 3, 300952; ?Mitochondrial complex I deficiency, nuclear type 30, 301021 for gene: NDUFB11
Severe Paediatric Disorders v0.8 MAPRE2 Louise Daugherty Added phenotypes Symmetric circumferential skin creases, congenital, 2, 616734 for gene: MAPRE2
Severe Paediatric Disorders v0.8 LRRC6 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 19, 614935 for gene: LRRC6
Severe Paediatric Disorders v0.8 KCNMA1 Louise Daugherty Added phenotypes Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446; Cerebellar atrophy, developmental delay, and seizures, 617643 for gene: KCNMA1
Severe Paediatric Disorders v0.8 HYDIN Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 5, 608647 for gene: HYDIN
Severe Paediatric Disorders v0.8 HCCS Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 1, 309801 for gene: HCCS
Severe Paediatric Disorders v0.8 GH1 Louise Daugherty Added phenotypes Kowarski syndrome, 262650; Growth hormone deficiency, isolated, type II, 173100; Growth hormone deficiency, isolated, type IA, 262400; Growth hormone deficiency, isolated, type IB, 612781 for gene: GH1
Severe Paediatric Disorders v0.8 GAS8 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 33, 616726 for gene: GAS8
Severe Paediatric Disorders v0.8 GABBR2 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 59, 617904; Neurodevelopmental disorder with poor language and loss of hand skills, 617903 for gene: GABBR2
Severe Paediatric Disorders v0.8 FBN1 Louise Daugherty Added phenotypes Marfan syndrome, 154700; Weill-Marchesani syndrome 2, dominant, 608328; Geleophysic dysplasia 2, 614185; Stiff skin syndrome, 184900; MASS syndrome, 604308; Marfan lipodystrophy syndrome, 616914; Acromicric dysplasia, 102370; Ectopia lentis, familial, 129600 for gene: FBN1
Severe Paediatric Disorders v0.8 DSP Louise Daugherty Added phenotypes Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676; Keratosis palmoplantaris striata II, 612908; Skin fragility-woolly hair syndrome, 607655; Epidermolysis bullosa, lethal acantholytic, 609638; Arrhythmogenic right ventricular dysplasia 8, 607450; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 for gene: DSP
Severe Paediatric Disorders v0.8 DNAI1 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 for gene: DNAI1
Severe Paediatric Disorders v0.8 DNAH9 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 40, 618300 for gene: DNAH9
Severe Paediatric Disorders v0.8 DNAH5 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 for gene: DNAH5
Severe Paediatric Disorders v0.8 DNAH11 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 for gene: DNAH11
Severe Paediatric Disorders v0.8 DNAAF4 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 25, 615482 for gene: DNAAF4
Severe Paediatric Disorders v0.8 DNAAF3 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 2, 606763 for gene: DNAAF3
Severe Paediatric Disorders v0.8 DNAAF1 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 13, 613193 for gene: DNAAF1
Severe Paediatric Disorders v0.8 DEAF1 Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 24, 615828; ?Dyskinesia, seizures, and intellectual developmental disorder, 617171 for gene: DEAF1
Severe Paediatric Disorders v0.8 COX7B Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 2, 300887 for gene: COX7B
Severe Paediatric Disorders v0.8 C11orf70 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 38, 618063 for gene: C11orf70
Severe Paediatric Disorders v0.8 CDSN Louise Daugherty Added phenotypes Hypotrichosis 2, 146520; Peeling skin syndrome 1, 270300 for gene: CDSN
Severe Paediatric Disorders v0.8 CCNO Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 29, 615872 for gene: CCNO
Severe Paediatric Disorders v0.8 CCDC65 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 27, 615504 for gene: CCDC65
Severe Paediatric Disorders v0.8 CCDC40 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 15, 613808 for gene: CCDC40
Severe Paediatric Disorders v0.8 CCDC39 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 14, 613807 for gene: CCDC39
Severe Paediatric Disorders v0.8 CCDC114 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 20, 615067 for gene: CCDC114
Severe Paediatric Disorders v0.8 CCDC103 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 17, 614679 for gene: CCDC103
Severe Paediatric Disorders v0.8 ATP6V0A2 Louise Daugherty Added phenotypes Wrinkly skin syndrome, 278250; Cutis laxa, autosomal recessive, type IIA, 219200 for gene: ATP6V0A2
Severe Paediatric Disorders v0.8 ARMC4 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 23, 615451 for gene: ARMC4
Severe Paediatric Disorders v0.8 ADCY5 Louise Daugherty Added phenotypes Dyskinesia, familial, with facial myokymia, 606703 for gene: ADCY5
Severe Paediatric Disorders v0.8 ADAM17 Louise Daugherty Mode of inheritance for gene ADAM17 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Inflammatory skin and bowel disease, neonatal, 1, 614328 for gene: ADAM17
Severe Paediatric Disorders v0.8 TUBB Louise Daugherty Mode of inheritance for gene TUBB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Symmetric circumferential skin creases, congenital, 1, 156610; Cortical dysplasia, complex, with other brain malformations 6, 615771 for gene: TUBB
Severe Paediatric Disorders v0.8 TRPV4 Louise Daugherty Mode of inheritance for gene TRPV4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Digital arthropathy-brachydactyly, familial, 606835; Metatropic dysplasia, 156530; [Sodium serum level QTL 1], 613508; Brachyolmia type 3, 113500; Hereditary motor and sensory neuropathy, type IIc, 606071; Scapuloperoneal spinal muscular atrophy, 181405; Spinal muscular atrophy, distal, congenital nonprogressive, 600175; Spondylometaphyseal dysplasia, Kozlowski type, 184252; SED, Maroteaux type, 184095; ?Avascular necrosis of femoral head, primary, 2, 617383; Parastremmatic dwarfism, 168400 for gene: TRPV4
Severe Paediatric Disorders v0.8 TGM5 Louise Daugherty Mode of inheritance for gene TGM5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peeling skin syndrome 2, 609796 for gene: TGM5
Severe Paediatric Disorders v0.8 SPAG1 Louise Daugherty Mode of inheritance for gene SPAG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 28, 615505 for gene: SPAG1
Severe Paediatric Disorders v0.8 SKIV2L Louise Daugherty Mode of inheritance for gene SKIV2L was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Trichohepatoenteric syndrome 2, 614602 for gene: SKIV2L
Severe Paediatric Disorders v0.8 SKI Louise Daugherty Mode of inheritance for gene SKI was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Shprintzen-Goldberg syndrome, 182212 for gene: SKI
Severe Paediatric Disorders v0.8 RSPH9 Louise Daugherty Mode of inheritance for gene RSPH9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 12, 612650 for gene: RSPH9
Severe Paediatric Disorders v0.8 RSPH4A Louise Daugherty Mode of inheritance for gene RSPH4A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 11, 612649 for gene: RSPH4A
Severe Paediatric Disorders v0.8 RSPH3 Louise Daugherty Mode of inheritance for gene RSPH3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 32, 616481 for gene: RSPH3
Severe Paediatric Disorders v0.8 RSPH1 Louise Daugherty Mode of inheritance for gene RSPH1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ciliary dyskinesia, primary, 24, 615481 for gene: RSPH1
Severe Paediatric Disorders v0.7 SKIV2L Louise Daugherty Source Next Generation Children Project was added to SKIV2L.
Severe Paediatric Disorders v0.7 SKI Louise Daugherty Source Next Generation Children Project was added to SKI.
Severe Paediatric Disorders v0.5 SKIV2L Louise Daugherty Source Expert Review Green was added to SKIV2L.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 SKI Louise Daugherty Source Expert Review Green was added to SKI.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 SKIV2L Louise Daugherty gene: SKIV2L was added
gene: SKIV2L was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SKIV2L was set to
Severe Paediatric Disorders v0.4 SKI Louise Daugherty gene: SKI was added
gene: SKI was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SKI was set to