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Severe Paediatric Disorders v1.50 HMGA2 Arina Puzriakova Phenotypes for gene: HMGA2 were changed from Sturge-Weber syndrome, somatic, mosaic, 185300; Capillary malformations, congenital, 1, somatic, mosaic, 163000 to Silver-Russell syndrome 5, OMIM:618908; Silver-Russell syndrome 5, MONDO:0020795
Severe Paediatric Disorders v1.19 DDC Arina Puzriakova Phenotypes for gene: DDC were changed from Aromatic L-amino acid decarboxylase deficiency, 608643 to Aromatic L-amino acid decarboxylase deficiency, OMIM:608643; Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
Severe Paediatric Disorders v0.17 ATIC Louise Daugherty Mode of inheritance for gene ATIC was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 ATIC Louise Daugherty reviewed gene: ATIC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 ATIC Louise Daugherty Publications for gene ATIC were updated from to 30847515
Severe Paediatric Disorders v0.10 TNFRSF4 Louise Daugherty Added phenotypes Basal cell carcinoma, somatic, 605462; Curry-Jones syndrome, somatic mosaic, 601707 for gene: TNFRSF4
Severe Paediatric Disorders v0.10 NFAT5 Louise Daugherty Added phenotypes Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600; Adenomas, multiple colorectal, 608456; Gastric cancer, somatic, 613659 for gene: NFAT5
Severe Paediatric Disorders v0.10 MUTYH Louise Daugherty Added phenotypes Angiofibroma, somatic; Carcinoid tumor of lung; Multiple endocrine neoplasia 1, 131100; Lipoma, somatic; Adrenal adenoma, somatic; Parathyroid adenoma, somatic for gene: MUTYH
Severe Paediatric Disorders v0.10 IL10 Louise Daugherty Added phenotypes {Glioma, susceptibility to, somatic}, 137800 for gene: IL10
Severe Paediatric Disorders v0.10 IDH1 Louise Daugherty Added phenotypes Leiomyoma, uterine, somatic, 150699 for gene: IDH1
Severe Paediatric Disorders v0.10 HMGA2 Louise Daugherty Added phenotypes Sturge-Weber syndrome, somatic, mosaic, 185300; Capillary malformations, congenital, 1, somatic, mosaic, 163000 for gene: HMGA2
Severe Paediatric Disorders v0.10 REEP2 Louise Daugherty Added phenotypes Small cell cancer of the lung, somatic, 182280; Osteosarcoma, somatic, 259500; Retinoblastoma, trilateral, 180200; Retinoblastoma, 180200; Bladder cancer, somatic, 109800 for gene: REEP2
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 TJP2 Louise Daugherty Added phenotypes Hypercholanemia, familial, 607748; Cholestasis, progressive familial intrahepatic 4, 615878 for gene: TJP2
Severe Paediatric Disorders v0.10 STRADA Louise Daugherty Added phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 for gene: STRADA
Severe Paediatric Disorders v0.10 SRC Louise Daugherty Added phenotypes Colon cancer, advanced, somatic, 114500; ?Thrombocytopenia 6, 616937 for gene: SRC
Severe Paediatric Disorders v0.10 SP110 Louise Daugherty Added phenotypes Hepatic venoocclusive disease with immunodeficiency, 235550 for gene: SP110
Severe Paediatric Disorders v0.10 SMARCB1 Louise Daugherty Added phenotypes Coffin-Siris syndrome 3, 614608; Rhabdoid tumors, somatic, 609322 for gene: SMARCB1
Severe Paediatric Disorders v0.10 RBBP8 Louise Daugherty Added phenotypes Pancreatic carcinoma, somatic; Jawad syndrome, 251255; Seckel syndrome 2, 606744 for gene: RBBP8
Severe Paediatric Disorders v0.10 PTF1A Louise Daugherty Added phenotypes Pancreatic agenesis 2, 615935; Pancreatic and cerebellar agenesis, 609069 for gene: PTF1A
Severe Paediatric Disorders v0.10 PSAP Louise Daugherty Added phenotypes Combined SAP deficiency, 611721; Metachromatic leukodystrophy due to SAP-b deficiency, 249900; Gaucher disease, atypical, 610539; Krabbe disease, atypical, 611722 for gene: PSAP
Severe Paediatric Disorders v0.10 POLG2 Louise Daugherty Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131; Mitochondrial DNA depletion syndrome 16 (hepatic type), 618528 for gene: POLG2
Severe Paediatric Disorders v0.10 PKHD1 Louise Daugherty Added phenotypes Polycystic kidney disease 4, with or without hepatic disease, 263200 for gene: PKHD1
Severe Paediatric Disorders v0.10 PIEZO1 Louise Daugherty Added phenotypes Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Lymphatic malformation 6, 616843 for gene: PIEZO1
Severe Paediatric Disorders v0.10 NR1H4 Louise Daugherty Added phenotypes Cholestasis, progressive familial intrahepatic, 5, 617049 for gene: NR1H4
Severe Paediatric Disorders v0.10 NPHP3 Louise Daugherty Added phenotypes Meckel syndrome 7, 267010; Nephronophthisis 3, 604387; Renal-hepatic-pancreatic dysplasia 1, 208540 for gene: NPHP3
Severe Paediatric Disorders v0.10 NEK8 Louise Daugherty Added phenotypes Renal-hepatic-pancreatic dysplasia 2, 615415; ?Nephronophthisis 9, 613824 for gene: NEK8
Severe Paediatric Disorders v0.10 MT-TY Louise Daugherty Added phenotypes FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND DILATED CARDIOMYOPATHY; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOPATHY, SOMATIC; EXERCISE INTOLERANCE AND COMPLEX III DEFICIENCY, SOMATIC for gene: MT-TY
Severe Paediatric Disorders v0.10 GJC2 Louise Daugherty Added phenotypes Spastic paraplegia 44, autosomal recessive, 613206; Lymphatic malformation 3, 613480; Leukodystrophy, hypomyelinating, 2, 608804 for gene: GJC2
Severe Paediatric Disorders v0.10 GATA6 Louise Daugherty Added phenotypes Persistent truncus arteriosus, 217095; Tetralogy of Fallot, 187500; Atrioventricular septal defect 5, 614474; Pancreatic agenesis and congenital heart defects, 600001; Atrial septal defect 9, 614475 for gene: GATA6
Severe Paediatric Disorders v0.10 FLT4 Louise Daugherty Added phenotypes Lymphatic malformation 1, 153100 for gene: FLT4
Severe Paediatric Disorders v0.10 FADD Louise Daugherty Added phenotypes Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations, 613759 for gene: FADD
Severe Paediatric Disorders v0.10 EPHB4 Louise Daugherty Added phenotypes Capillary malformation-arteriovenous malformation 2, 618196; Lymphatic malformation 7, 617300 for gene: EPHB4
Severe Paediatric Disorders v0.10 DDC Louise Daugherty Added phenotypes Aromatic L-amino acid decarboxylase deficiency, 608643 for gene: DDC
Severe Paediatric Disorders v0.10 DBH Louise Daugherty Added phenotypes Orthostatic hypotension 1, due to DBH deficiency, 223360 for gene: DBH
Severe Paediatric Disorders v0.10 CPT1A Louise Daugherty Added phenotypes CPT deficiency, hepatic, type IA, 255120 for gene: CPT1A
Severe Paediatric Disorders v0.10 CNOT1 Louise Daugherty Added phenotypes Holoprosencephaly 12, with or without pancreatic agenesis, 618500 for gene: CNOT1
Severe Paediatric Disorders v0.10 ATP8B1 Louise Daugherty Added phenotypes Cholestasis, progressive familial intrahepatic 1, 211600; Cholestasis, benign recurrent intrahepatic, 243300 for gene: ATP8B1
Severe Paediatric Disorders v0.10 ATIC Louise Daugherty Added phenotypes AICA-ribosiduria due to ATIC deficiency, 608688 for gene: ATIC
Severe Paediatric Disorders v0.10 ARSA Louise Daugherty Added phenotypes Metachromatic leukodystrophy, 250100 for gene: ARSA
Severe Paediatric Disorders v0.10 ALAD Louise Daugherty Added phenotypes Porphyria, acute hepatic, 612740 for gene: ALAD
Severe Paediatric Disorders v0.10 ABCB4 Louise Daugherty Added phenotypes Gallbladder disease 1, 600803; Cholestasis, progressive familial intrahepatic 3, 602347; Cholestasis, intrahepatic, of pregnancy, 3, 614972 for gene: ABCB4
Severe Paediatric Disorders v0.10 ABCB11 Louise Daugherty Added phenotypes Cholestasis, progressive familial intrahepatic 2, 601847; Cholestasis, benign recurrent intrahepatic, 2, 605479 for gene: ABCB11
Severe Paediatric Disorders v0.9 TNFRSF4 Louise Daugherty Added phenotypes Basal cell carcinoma, somatic, 605462; Curry-Jones syndrome, somatic mosaic, 601707 for gene: TNFRSF4
Severe Paediatric Disorders v0.9 NFAT5 Louise Daugherty Added phenotypes Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600; Adenomas, multiple colorectal, 608456; Gastric cancer, somatic, 613659 for gene: NFAT5
Severe Paediatric Disorders v0.9 MUTYH Louise Daugherty Added phenotypes Angiofibroma, somatic; Carcinoid tumor of lung; Multiple endocrine neoplasia 1, 131100; Lipoma, somatic; Adrenal adenoma, somatic; Parathyroid adenoma, somatic for gene: MUTYH
Severe Paediatric Disorders v0.9 IL10 Louise Daugherty Added phenotypes {Glioma, susceptibility to, somatic}, 137800 for gene: IL10
Severe Paediatric Disorders v0.9 IDH1 Louise Daugherty Added phenotypes Leiomyoma, uterine, somatic, 150699 for gene: IDH1
Severe Paediatric Disorders v0.9 HMGA2 Louise Daugherty Added phenotypes Sturge-Weber syndrome, somatic, mosaic, 185300; Capillary malformations, congenital, 1, somatic, mosaic, 163000 for gene: HMGA2
Severe Paediatric Disorders v0.9 REEP2 Louise Daugherty Added phenotypes Small cell cancer of the lung, somatic, 182280; Osteosarcoma, somatic, 259500; Retinoblastoma, trilateral, 180200; Retinoblastoma, 180200; Bladder cancer, somatic, 109800 for gene: REEP2
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 TJP2 Louise Daugherty Added phenotypes Hypercholanemia, familial, 607748; Cholestasis, progressive familial intrahepatic 4, 615878 for gene: TJP2
Severe Paediatric Disorders v0.9 STRADA Louise Daugherty Added phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 for gene: STRADA
Severe Paediatric Disorders v0.9 SRC Louise Daugherty Added phenotypes Colon cancer, advanced, somatic, 114500; ?Thrombocytopenia 6, 616937 for gene: SRC
Severe Paediatric Disorders v0.9 SP110 Louise Daugherty Added phenotypes Hepatic venoocclusive disease with immunodeficiency, 235550 for gene: SP110
Severe Paediatric Disorders v0.9 SMARCB1 Louise Daugherty Added phenotypes Coffin-Siris syndrome 3, 614608; Rhabdoid tumors, somatic, 609322 for gene: SMARCB1
Severe Paediatric Disorders v0.9 RBBP8 Louise Daugherty Added phenotypes Pancreatic carcinoma, somatic; Jawad syndrome, 251255; Seckel syndrome 2, 606744 for gene: RBBP8
Severe Paediatric Disorders v0.9 PTF1A Louise Daugherty Added phenotypes Pancreatic agenesis 2, 615935; Pancreatic and cerebellar agenesis, 609069 for gene: PTF1A
Severe Paediatric Disorders v0.9 PSAP Louise Daugherty Added phenotypes Combined SAP deficiency, 611721; Metachromatic leukodystrophy due to SAP-b deficiency, 249900; Gaucher disease, atypical, 610539; Krabbe disease, atypical, 611722 for gene: PSAP
Severe Paediatric Disorders v0.9 POLG2 Louise Daugherty Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131; Mitochondrial DNA depletion syndrome 16 (hepatic type), 618528 for gene: POLG2
Severe Paediatric Disorders v0.9 PKHD1 Louise Daugherty Added phenotypes Polycystic kidney disease 4, with or without hepatic disease, 263200 for gene: PKHD1
Severe Paediatric Disorders v0.9 PIEZO1 Louise Daugherty Added phenotypes Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Lymphatic malformation 6, 616843 for gene: PIEZO1
Severe Paediatric Disorders v0.9 NR1H4 Louise Daugherty Added phenotypes Cholestasis, progressive familial intrahepatic, 5, 617049 for gene: NR1H4
Severe Paediatric Disorders v0.9 NPHP3 Louise Daugherty Added phenotypes Meckel syndrome 7, 267010; Nephronophthisis 3, 604387; Renal-hepatic-pancreatic dysplasia 1, 208540 for gene: NPHP3
Severe Paediatric Disorders v0.9 NEK8 Louise Daugherty Added phenotypes Renal-hepatic-pancreatic dysplasia 2, 615415; ?Nephronophthisis 9, 613824 for gene: NEK8
Severe Paediatric Disorders v0.9 MT-TY Louise Daugherty Added phenotypes FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND DILATED CARDIOMYOPATHY; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOPATHY, SOMATIC; EXERCISE INTOLERANCE AND COMPLEX III DEFICIENCY, SOMATIC for gene: MT-TY
Severe Paediatric Disorders v0.9 GJC2 Louise Daugherty Added phenotypes Spastic paraplegia 44, autosomal recessive, 613206; Lymphatic malformation 3, 613480; Leukodystrophy, hypomyelinating, 2, 608804 for gene: GJC2
Severe Paediatric Disorders v0.9 GATA6 Louise Daugherty Added phenotypes Persistent truncus arteriosus, 217095; Tetralogy of Fallot, 187500; Atrioventricular septal defect 5, 614474; Pancreatic agenesis and congenital heart defects, 600001; Atrial septal defect 9, 614475 for gene: GATA6
Severe Paediatric Disorders v0.9 FLT4 Louise Daugherty Added phenotypes Lymphatic malformation 1, 153100 for gene: FLT4
Severe Paediatric Disorders v0.9 FADD Louise Daugherty Added phenotypes Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations, 613759 for gene: FADD
Severe Paediatric Disorders v0.9 EPHB4 Louise Daugherty Added phenotypes Capillary malformation-arteriovenous malformation 2, 618196; Lymphatic malformation 7, 617300 for gene: EPHB4
Severe Paediatric Disorders v0.9 DDC Louise Daugherty Added phenotypes Aromatic L-amino acid decarboxylase deficiency, 608643 for gene: DDC
Severe Paediatric Disorders v0.9 DBH Louise Daugherty Added phenotypes Orthostatic hypotension 1, due to DBH deficiency, 223360 for gene: DBH
Severe Paediatric Disorders v0.9 CPT1A Louise Daugherty Added phenotypes CPT deficiency, hepatic, type IA, 255120 for gene: CPT1A
Severe Paediatric Disorders v0.9 CNOT1 Louise Daugherty Added phenotypes Holoprosencephaly 12, with or without pancreatic agenesis, 618500 for gene: CNOT1
Severe Paediatric Disorders v0.9 ATP8B1 Louise Daugherty Added phenotypes Cholestasis, progressive familial intrahepatic 1, 211600; Cholestasis, benign recurrent intrahepatic, 243300 for gene: ATP8B1
Severe Paediatric Disorders v0.9 ATIC Louise Daugherty Added phenotypes AICA-ribosiduria due to ATIC deficiency, 608688 for gene: ATIC
Severe Paediatric Disorders v0.9 ARSA Louise Daugherty Added phenotypes Metachromatic leukodystrophy, 250100 for gene: ARSA
Severe Paediatric Disorders v0.9 ALAD Louise Daugherty Added phenotypes Porphyria, acute hepatic, 612740 for gene: ALAD
Severe Paediatric Disorders v0.9 ABCB4 Louise Daugherty Added phenotypes Gallbladder disease 1, 600803; Cholestasis, progressive familial intrahepatic 3, 602347; Cholestasis, intrahepatic, of pregnancy, 3, 614972 for gene: ABCB4
Severe Paediatric Disorders v0.9 ABCB11 Louise Daugherty Added phenotypes Cholestasis, progressive familial intrahepatic 2, 601847; Cholestasis, benign recurrent intrahepatic, 2, 605479 for gene: ABCB11
Severe Paediatric Disorders v0.9 TNFRSF4 Louise Daugherty Added phenotypes Basal cell carcinoma, somatic, 605462; Curry-Jones syndrome, somatic mosaic, 601707 for gene: TNFRSF4
Severe Paediatric Disorders v0.9 NFAT5 Louise Daugherty Added phenotypes Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600; Adenomas, multiple colorectal, 608456; Gastric cancer, somatic, 613659 for gene: NFAT5
Severe Paediatric Disorders v0.9 MUTYH Louise Daugherty Added phenotypes Angiofibroma, somatic; Carcinoid tumor of lung; Multiple endocrine neoplasia 1, 131100; Lipoma, somatic; Adrenal adenoma, somatic; Parathyroid adenoma, somatic for gene: MUTYH
Severe Paediatric Disorders v0.9 IL10 Louise Daugherty Added phenotypes {Glioma, susceptibility to, somatic}, 137800 for gene: IL10
Severe Paediatric Disorders v0.9 IDH1 Louise Daugherty Added phenotypes Leiomyoma, uterine, somatic, 150699 for gene: IDH1
Severe Paediatric Disorders v0.9 HMGA2 Louise Daugherty Added phenotypes Sturge-Weber syndrome, somatic, mosaic, 185300; Capillary malformations, congenital, 1, somatic, mosaic, 163000 for gene: HMGA2
Severe Paediatric Disorders v0.9 REEP2 Louise Daugherty Added phenotypes Small cell cancer of the lung, somatic, 182280; Osteosarcoma, somatic, 259500; Retinoblastoma, trilateral, 180200; Retinoblastoma, 180200; Bladder cancer, somatic, 109800 for gene: REEP2
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 TJP2 Louise Daugherty Added phenotypes Hypercholanemia, familial, 607748; Cholestasis, progressive familial intrahepatic 4, 615878 for gene: TJP2
Severe Paediatric Disorders v0.9 STRADA Louise Daugherty Added phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 for gene: STRADA
Severe Paediatric Disorders v0.9 SRC Louise Daugherty Added phenotypes Colon cancer, advanced, somatic, 114500; ?Thrombocytopenia 6, 616937 for gene: SRC
Severe Paediatric Disorders v0.9 SP110 Louise Daugherty Added phenotypes Hepatic venoocclusive disease with immunodeficiency, 235550 for gene: SP110
Severe Paediatric Disorders v0.9 SMARCB1 Louise Daugherty Added phenotypes Coffin-Siris syndrome 3, 614608; Rhabdoid tumors, somatic, 609322 for gene: SMARCB1
Severe Paediatric Disorders v0.9 RBBP8 Louise Daugherty Added phenotypes Pancreatic carcinoma, somatic; Jawad syndrome, 251255; Seckel syndrome 2, 606744 for gene: RBBP8
Severe Paediatric Disorders v0.9 PTF1A Louise Daugherty Added phenotypes Pancreatic agenesis 2, 615935; Pancreatic and cerebellar agenesis, 609069 for gene: PTF1A
Severe Paediatric Disorders v0.9 PSAP Louise Daugherty Added phenotypes Combined SAP deficiency, 611721; Metachromatic leukodystrophy due to SAP-b deficiency, 249900; Gaucher disease, atypical, 610539; Krabbe disease, atypical, 611722 for gene: PSAP
Severe Paediatric Disorders v0.9 POLG2 Louise Daugherty Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131; Mitochondrial DNA depletion syndrome 16 (hepatic type), 618528 for gene: POLG2
Severe Paediatric Disorders v0.9 PKHD1 Louise Daugherty Added phenotypes Polycystic kidney disease 4, with or without hepatic disease, 263200 for gene: PKHD1
Severe Paediatric Disorders v0.9 PIEZO1 Louise Daugherty Added phenotypes Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Lymphatic malformation 6, 616843 for gene: PIEZO1
Severe Paediatric Disorders v0.9 NR1H4 Louise Daugherty Added phenotypes Cholestasis, progressive familial intrahepatic, 5, 617049 for gene: NR1H4
Severe Paediatric Disorders v0.9 NPHP3 Louise Daugherty Added phenotypes Meckel syndrome 7, 267010; Nephronophthisis 3, 604387; Renal-hepatic-pancreatic dysplasia 1, 208540 for gene: NPHP3
Severe Paediatric Disorders v0.9 NEK8 Louise Daugherty Added phenotypes Renal-hepatic-pancreatic dysplasia 2, 615415; ?Nephronophthisis 9, 613824 for gene: NEK8
Severe Paediatric Disorders v0.9 MT-TY Louise Daugherty Added phenotypes FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND DILATED CARDIOMYOPATHY; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOPATHY, SOMATIC; EXERCISE INTOLERANCE AND COMPLEX III DEFICIENCY, SOMATIC for gene: MT-TY
Severe Paediatric Disorders v0.9 GJC2 Louise Daugherty Added phenotypes Spastic paraplegia 44, autosomal recessive, 613206; Lymphatic malformation 3, 613480; Leukodystrophy, hypomyelinating, 2, 608804 for gene: GJC2
Severe Paediatric Disorders v0.9 GATA6 Louise Daugherty Added phenotypes Persistent truncus arteriosus, 217095; Tetralogy of Fallot, 187500; Atrioventricular septal defect 5, 614474; Pancreatic agenesis and congenital heart defects, 600001; Atrial septal defect 9, 614475 for gene: GATA6
Severe Paediatric Disorders v0.9 FLT4 Louise Daugherty Added phenotypes Lymphatic malformation 1, 153100 for gene: FLT4
Severe Paediatric Disorders v0.9 FADD Louise Daugherty Added phenotypes Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations, 613759 for gene: FADD
Severe Paediatric Disorders v0.9 EPHB4 Louise Daugherty Added phenotypes Capillary malformation-arteriovenous malformation 2, 618196; Lymphatic malformation 7, 617300 for gene: EPHB4
Severe Paediatric Disorders v0.9 DDC Louise Daugherty Added phenotypes Aromatic L-amino acid decarboxylase deficiency, 608643 for gene: DDC
Severe Paediatric Disorders v0.9 DBH Louise Daugherty Added phenotypes Orthostatic hypotension 1, due to DBH deficiency, 223360 for gene: DBH
Severe Paediatric Disorders v0.9 CPT1A Louise Daugherty Added phenotypes CPT deficiency, hepatic, type IA, 255120 for gene: CPT1A
Severe Paediatric Disorders v0.9 CNOT1 Louise Daugherty Added phenotypes Holoprosencephaly 12, with or without pancreatic agenesis, 618500 for gene: CNOT1
Severe Paediatric Disorders v0.9 ATP8B1 Louise Daugherty Added phenotypes Cholestasis, progressive familial intrahepatic 1, 211600; Cholestasis, benign recurrent intrahepatic, 243300 for gene: ATP8B1
Severe Paediatric Disorders v0.9 ATIC Louise Daugherty Added phenotypes AICA-ribosiduria due to ATIC deficiency, 608688 for gene: ATIC
Severe Paediatric Disorders v0.9 ARSA Louise Daugherty Added phenotypes Metachromatic leukodystrophy, 250100 for gene: ARSA
Severe Paediatric Disorders v0.9 ALAD Louise Daugherty Added phenotypes Porphyria, acute hepatic, 612740 for gene: ALAD
Severe Paediatric Disorders v0.9 ABCB4 Louise Daugherty Added phenotypes Gallbladder disease 1, 600803; Cholestasis, progressive familial intrahepatic 3, 602347; Cholestasis, intrahepatic, of pregnancy, 3, 614972 for gene: ABCB4
Severe Paediatric Disorders v0.9 ABCB11 Louise Daugherty Added phenotypes Cholestasis, progressive familial intrahepatic 2, 601847; Cholestasis, benign recurrent intrahepatic, 2, 605479 for gene: ABCB11
Severe Paediatric Disorders v0.8 TNFRSF4 Louise Daugherty Added phenotypes Basal cell carcinoma, somatic, 605462; Curry-Jones syndrome, somatic mosaic, 601707 for gene: TNFRSF4
Severe Paediatric Disorders v0.8 NFAT5 Louise Daugherty Added phenotypes Adenomas, multiple colorectal, 608456; Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600; Gastric cancer, somatic, 613659 for gene: NFAT5
Severe Paediatric Disorders v0.8 MUTYH Louise Daugherty Added phenotypes Lipoma, somatic; Adrenal adenoma, somatic; Multiple endocrine neoplasia 1, 131100; Parathyroid adenoma, somatic; Carcinoid tumor of lung; Angiofibroma, somatic for gene: MUTYH
Severe Paediatric Disorders v0.8 IL10 Louise Daugherty Added phenotypes {Glioma, susceptibility to, somatic}, 137800 for gene: IL10
Severe Paediatric Disorders v0.8 IDH1 Louise Daugherty Added phenotypes Leiomyoma, uterine, somatic, 150699 for gene: IDH1
Severe Paediatric Disorders v0.8 HMGA2 Louise Daugherty Added phenotypes Capillary malformations, congenital, 1, somatic, mosaic, 163000; Sturge-Weber syndrome, somatic, mosaic, 185300 for gene: HMGA2
Severe Paediatric Disorders v0.8 REEP2 Louise Daugherty Added phenotypes Retinoblastoma, trilateral, 180200; Bladder cancer, somatic, 109800; Osteosarcoma, somatic, 259500; Retinoblastoma, 180200; Small cell cancer of the lung, somatic, 182280 for gene: REEP2
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 TJP2 Louise Daugherty Added phenotypes Cholestasis, progressive familial intrahepatic 4, 615878; Hypercholanemia, familial, 607748 for gene: TJP2
Severe Paediatric Disorders v0.8 STRADA Louise Daugherty Added phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 for gene: STRADA
Severe Paediatric Disorders v0.8 SRC Louise Daugherty Added phenotypes ?Thrombocytopenia 6, 616937; Colon cancer, advanced, somatic, 114500 for gene: SRC
Severe Paediatric Disorders v0.8 SP110 Louise Daugherty Added phenotypes Hepatic venoocclusive disease with immunodeficiency, 235550 for gene: SP110
Severe Paediatric Disorders v0.8 SMARCB1 Louise Daugherty Added phenotypes Coffin-Siris syndrome 3, 614608; Rhabdoid tumors, somatic, 609322 for gene: SMARCB1
Severe Paediatric Disorders v0.8 RBBP8 Louise Daugherty Added phenotypes Jawad syndrome, 251255; Pancreatic carcinoma, somatic; Seckel syndrome 2, 606744 for gene: RBBP8
Severe Paediatric Disorders v0.8 PTF1A Louise Daugherty Added phenotypes Pancreatic and cerebellar agenesis, 609069; Pancreatic agenesis 2, 615935 for gene: PTF1A
Severe Paediatric Disorders v0.8 PSAP Louise Daugherty Added phenotypes Combined SAP deficiency, 611721; Krabbe disease, atypical, 611722; Gaucher disease, atypical, 610539; Metachromatic leukodystrophy due to SAP-b deficiency, 249900 for gene: PSAP
Severe Paediatric Disorders v0.8 POLG2 Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 16 (hepatic type), 618528; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 for gene: POLG2
Severe Paediatric Disorders v0.8 PKHD1 Louise Daugherty Added phenotypes Polycystic kidney disease 4, with or without hepatic disease, 263200 for gene: PKHD1
Severe Paediatric Disorders v0.8 PIEZO1 Louise Daugherty Added phenotypes Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Lymphatic malformation 6, 616843 for gene: PIEZO1
Severe Paediatric Disorders v0.8 NR1H4 Louise Daugherty Added phenotypes Cholestasis, progressive familial intrahepatic, 5, 617049 for gene: NR1H4
Severe Paediatric Disorders v0.8 NPHP3 Louise Daugherty Added phenotypes Meckel syndrome 7, 267010; Renal-hepatic-pancreatic dysplasia 1, 208540; Nephronophthisis 3, 604387 for gene: NPHP3
Severe Paediatric Disorders v0.8 NEK8 Louise Daugherty Added phenotypes Renal-hepatic-pancreatic dysplasia 2, 615415; ?Nephronophthisis 9, 613824 for gene: NEK8
Severe Paediatric Disorders v0.8 MT-TY Louise Daugherty Added phenotypes EXERCISE INTOLERANCE AND COMPLEX III DEFICIENCY, SOMATIC; FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND DILATED CARDIOMYOPATHY; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOPATHY, SOMATIC for gene: MT-TY
Severe Paediatric Disorders v0.8 GJC2 Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 2, 608804; Lymphatic malformation 3, 613480; Spastic paraplegia 44, autosomal recessive, 613206 for gene: GJC2
Severe Paediatric Disorders v0.8 GATA6 Louise Daugherty Added phenotypes Persistent truncus arteriosus, 217095; Atrioventricular septal defect 5, 614474; Tetralogy of Fallot, 187500; Pancreatic agenesis and congenital heart defects, 600001; Atrial septal defect 9, 614475 for gene: GATA6
Severe Paediatric Disorders v0.8 FLT4 Louise Daugherty Added phenotypes Lymphatic malformation 1, 153100 for gene: FLT4
Severe Paediatric Disorders v0.8 FADD Louise Daugherty Added phenotypes Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations, 613759 for gene: FADD
Severe Paediatric Disorders v0.8 EPHB4 Louise Daugherty Added phenotypes Lymphatic malformation 7, 617300; Capillary malformation-arteriovenous malformation 2, 618196 for gene: EPHB4
Severe Paediatric Disorders v0.8 DDC Louise Daugherty Added phenotypes Aromatic L-amino acid decarboxylase deficiency, 608643 for gene: DDC
Severe Paediatric Disorders v0.8 DBH Louise Daugherty Added phenotypes Orthostatic hypotension 1, due to DBH deficiency, 223360 for gene: DBH
Severe Paediatric Disorders v0.8 CPT1A Louise Daugherty Added phenotypes CPT deficiency, hepatic, type IA, 255120 for gene: CPT1A
Severe Paediatric Disorders v0.8 CNOT1 Louise Daugherty Added phenotypes Holoprosencephaly 12, with or without pancreatic agenesis, 618500 for gene: CNOT1
Severe Paediatric Disorders v0.8 ATP8B1 Louise Daugherty Added phenotypes Cholestasis, benign recurrent intrahepatic, 243300; Cholestasis, progressive familial intrahepatic 1, 211600 for gene: ATP8B1
Severe Paediatric Disorders v0.8 ATIC Louise Daugherty Added phenotypes AICA-ribosiduria due to ATIC deficiency, 608688 for gene: ATIC
Severe Paediatric Disorders v0.8 ARSA Louise Daugherty Added phenotypes Metachromatic leukodystrophy, 250100 for gene: ARSA
Severe Paediatric Disorders v0.8 ALAD Louise Daugherty Added phenotypes Porphyria, acute hepatic, 612740 for gene: ALAD
Severe Paediatric Disorders v0.8 ABCB4 Louise Daugherty Added phenotypes Gallbladder disease 1, 600803; Cholestasis, progressive familial intrahepatic 3, 602347; Cholestasis, intrahepatic, of pregnancy, 3, 614972 for gene: ABCB4
Severe Paediatric Disorders v0.8 ABCB11 Louise Daugherty Added phenotypes Cholestasis, benign recurrent intrahepatic, 2, 605479; Cholestasis, progressive familial intrahepatic 2, 601847 for gene: ABCB11
Severe Paediatric Disorders v0.8 TNFRSF4 Louise Daugherty Mode of inheritance for gene TNFRSF4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Basal cell carcinoma, somatic, 605462; Curry-Jones syndrome, somatic mosaic, 601707 for gene: TNFRSF4
Severe Paediatric Disorders v0.8 NFAT5 Louise Daugherty Mode of inheritance for gene NFAT5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600; Adenomas, multiple colorectal, 608456; Gastric cancer, somatic, 613659 for gene: NFAT5
Severe Paediatric Disorders v0.8 MUTYH Louise Daugherty Mode of inheritance for gene MUTYH was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Angiofibroma, somatic; Carcinoid tumor of lung; Multiple endocrine neoplasia 1, 131100; Lipoma, somatic; Adrenal adenoma, somatic; Parathyroid adenoma, somatic for gene: MUTYH
Severe Paediatric Disorders v0.8 IL10 Louise Daugherty Mode of inheritance for gene IL10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes {Glioma, susceptibility to, somatic}, 137800 for gene: IL10
Severe Paediatric Disorders v0.8 IDH1 Louise Daugherty Mode of inheritance for gene IDH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Leiomyoma, uterine, somatic, 150699 for gene: IDH1
Severe Paediatric Disorders v0.8 HMGA2 Louise Daugherty Mode of inheritance for gene HMGA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Sturge-Weber syndrome, somatic, mosaic, 185300; Capillary malformations, congenital, 1, somatic, mosaic, 163000 for gene: HMGA2
Severe Paediatric Disorders v0.8 REEP2 Louise Daugherty Mode of inheritance for gene REEP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Small cell cancer of the lung, somatic, 182280; Osteosarcoma, somatic, 259500; Retinoblastoma, trilateral, 180200; Retinoblastoma, 180200; Bladder cancer, somatic, 109800 for gene: REEP2
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 TJP2 Louise Daugherty Mode of inheritance for gene TJP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hypercholanemia, familial, 607748; Cholestasis, progressive familial intrahepatic 4, 615878 for gene: TJP2
Severe Paediatric Disorders v0.8 STRADA Louise Daugherty Mode of inheritance for gene STRADA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 for gene: STRADA
Severe Paediatric Disorders v0.8 SRC Louise Daugherty Mode of inheritance for gene SRC was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Colon cancer, advanced, somatic, 114500; ?Thrombocytopenia 6, 616937 for gene: SRC
Severe Paediatric Disorders v0.8 SP110 Louise Daugherty Mode of inheritance for gene SP110 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hepatic venoocclusive disease with immunodeficiency, 235550 for gene: SP110
Severe Paediatric Disorders v0.8 SMARCB1 Louise Daugherty Mode of inheritance for gene SMARCB1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Coffin-Siris syndrome 3, 614608; Rhabdoid tumors, somatic, 609322 for gene: SMARCB1
Severe Paediatric Disorders v0.7 ATIC Louise Daugherty Source Next Generation Children Project was added to ATIC.
Severe Paediatric Disorders v0.5 ATIC Louise Daugherty Source Expert Review Green was added to ATIC.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 ATIC Louise Daugherty gene: ATIC was added
gene: ATIC was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ATIC was set to