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Severe Paediatric Disorders v1.141 STXBP1 Sarah Leigh edited their review of gene: STXBP1: Added comment: PMID: 31855252 reports a homozygous STXBP1 variant (NM_001032221.6(STXBP1):c.1336C>T (p.Leu446Phe)) in two sisters with developmental and epileptic encephalopathy 4 (OMIM:612164). Their mother and unaffected sister were heterozygous for NM_001032221.6(STXBP1):c.1336C>T (p.Leu446Phe)(the father was deceased). Functional studies showed that this variant had a lesser effect on protein stability in comparison with the heterozygous variants previously reported. However, patch clamp recordings demonstrated that p.Leu446Phe causes a 2-fold increase in evoked synaptic transmission, leading to the conclusion that this variant was having a gain-of-function effect. Although the majority of STXBP1 variants are heterozygous, with a loss-of -function effect, the results published in PMID: 31855252, suggest that there maybe further complexity to mechanisms involved in the development of developmental and epileptic encephalopathy 4. PMID: 35190816 used a computational approach, together with biomedical ontologies, to characterize phenotypic features in STXBP1-related disorders, such that groups of HPO terms could be associated with certain STXBP1 variants.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v1.134 DCLRE1B Achchuthan Shanmugasundram Phenotypes for gene: DCLRE1B were changed from HoyeraalHreidarsson syndrome to Dyskeratosis congenita, autosomal recessive 8, OMIM:620133
Severe Paediatric Disorders v1.22 AAAS Arina Puzriakova Phenotypes for gene: AAAS were changed from Achalasia-addisonianism-alacrimia syndrome, 231550 to Achalasia-addisonianism-alacrimia syndrome, OMIM:231550; Triple-A syndrome, MONDO:0009279
Severe Paediatric Disorders v0.17 DONSON Louise Daugherty Mode of inheritance for gene DONSON was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 SON Louise Daugherty reviewed gene: SON: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DONSON Louise Daugherty reviewed gene: DONSON: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 SON Louise Daugherty Publications for gene SON were updated from to 30847515
Severe Paediatric Disorders v0.11 DONSON Louise Daugherty Publications for gene DONSON were updated from to 30847515
Severe Paediatric Disorders v0.10 SLC25A32 Louise Daugherty Added phenotypes ?Parkinsonism-dystonia, infantile, 2, 618049 for gene: SLC25A32
Severe Paediatric Disorders v0.10 ZEB2 Louise Daugherty Added phenotypes Mowat-Wilson syndrome, 235730 for gene: ZEB2
Severe Paediatric Disorders v0.10 UBR1 Louise Daugherty Added phenotypes Johanson-Blizzard syndrome, 243800 for gene: UBR1
Severe Paediatric Disorders v0.10 TBX22 Louise Daugherty Added phenotypes ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400 for gene: TBX22
Severe Paediatric Disorders v0.10 TAF1 Louise Daugherty Added phenotypes Mental retardation, X-linked, syndromic 33, 300966; Dystonia-Parkinsonism, X-linked, 314250 for gene: TAF1
Severe Paediatric Disorders v0.10 SYNJ1 Louise Daugherty Added phenotypes Parkinson disease 20, early-onset, 615530; Epileptic encephalopathy, early infantile, 53, 617389 for gene: SYNJ1
Severe Paediatric Disorders v0.10 SON Louise Daugherty Added phenotypes ZTTK syndrome, 617140 for gene: SON
Severe Paediatric Disorders v0.10 SNCA Louise Daugherty Added phenotypes Parkinson disease 1, 168601; Dementia, Lewy body, 127750; Parkinson disease 4, 605543 for gene: SNCA
Severe Paediatric Disorders v0.10 SMS Louise Daugherty Added phenotypes Mental retardation, X-linked, Snyder-Robinson type, 309583 for gene: SMS
Severe Paediatric Disorders v0.10 SLC9A6 Louise Daugherty Added phenotypes Mental retardation, X-linked syndromic, Christianson type, 300243 for gene: SLC9A6
Severe Paediatric Disorders v0.10 SLC6A3 Louise Daugherty Added phenotypes Parkinsonism-dystonia, infantile, 1, 613135 for gene: SLC6A3
Severe Paediatric Disorders v0.10 RECQL4 Louise Daugherty Added phenotypes RAPADILINO syndrome, 266280; Rothmund-Thomson syndrome, type 2,, 268400; Baller-Gerold syndrome, 218600 for gene: RECQL4
Severe Paediatric Disorders v0.10 PRKN Louise Daugherty Added phenotypes Parkinson disease, juvenile, type 2, 600116 for gene: PRKN
Severe Paediatric Disorders v0.10 PRKAG2 Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic 6, 600858; Wolff-Parkinson-White syndrome, 194200; Glycogen storage disease of heart, lethal congenital, 261740 for gene: PRKAG2
Severe Paediatric Disorders v0.10 PLA2G6 Louise Daugherty Added phenotypes Infantile neuroaxonal dystrophy 1, 256600; Parkinson disease 14, autosomal recessive, 612953; Neurodegeneration with brain iron accumulation 2B, 610217 for gene: PLA2G6
Severe Paediatric Disorders v0.10 PINK1 Louise Daugherty Added phenotypes Parkinson disease 6, early onset, 605909 for gene: PINK1
Severe Paediatric Disorders v0.10 PHF6 Louise Daugherty Added phenotypes Borjeson-Forssman-Lehmann syndrome, 301900 for gene: PHF6
Severe Paediatric Disorders v0.10 PARK7 Louise Daugherty Added phenotypes Parkinson disease 7, autosomal recessive early-onset, 606324 for gene: PARK7
Severe Paediatric Disorders v0.10 OFD1 Louise Daugherty Added phenotypes Joubert syndrome 10, 300804; ?Retinitis pigmentosa 23, 300424; Simpson-Golabi-Behmel syndrome, type 2, 300209; Orofaciodigital syndrome I, 311200 for gene: OFD1
Severe Paediatric Disorders v0.10 NF1 Louise Daugherty Added phenotypes Watson syndrome, 193520; Neurofibromatosis-Noonan syndrome, 601321; Neurofibromatosis, type 1, 162200; Neurofibromatosis, familial spinal, 162210; Leukemia, juvenile myelomonocytic, 607785 for gene: NF1
Severe Paediatric Disorders v0.10 MT-CYB Louise Daugherty Added phenotypes PARKINSONISM/MELAS OVERLAP SYNDROME; CARDIOMYOPATHY, INFANTILE HISTIOCYTOID; LEBER OPTIC ATROPHY; EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA; EXERCISE INTOLERANCE; ENCEPHALOMYOPATHY, MITOCHONDRIAL; MULTISYSTEM DISORDER for gene: MT-CYB
Severe Paediatric Disorders v0.10 MAPT Louise Daugherty Added phenotypes Pick disease, 172700; Supranuclear palsy, progressive, 601104; Supranuclear palsy, progressive atypical, 260540; Dementia, frontotemporal, with or without parkinsonism, 600274 for gene: MAPT
Severe Paediatric Disorders v0.10 LRRK2 Louise Daugherty Added phenotypes Parkinson disease 8, Autosomal Dominant, 607060 for gene: LRRK2
Severe Paediatric Disorders v0.10 LMNA Louise Daugherty Added phenotypes Hutchinson-Gilford progeria, 176670; Lipodystrophy, familial partial, type 2, 151660; Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516; Heart-hand syndrome, Slovenian type, 610140; Cardiomyopathy, dilated, 1A, 115200; Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350; Mandibuloacral dysplasia, 248370; Muscular dystrophy, congenital, 613205; Restrictive dermopathy, lethal, 275210; Charcot-Marie-Tooth disease, type 2B1, 605588; Malouf syndrome, 212112 for gene: LMNA
Severe Paediatric Disorders v0.10 LAMB2 Louise Daugherty Added phenotypes Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199; Pierson syndrome, 609049 for gene: LAMB2
Severe Paediatric Disorders v0.10 INSR Louise Daugherty Added phenotypes Leprechaunism, 246200; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Rabson-Mendenhall syndrome, 262190; Hyperinsulinemic hypoglycemia, familial, 5, 609968 for gene: INSR
Severe Paediatric Disorders v0.10 GPC3 Louise Daugherty Added phenotypes Simpson-Golabi-Behmel syndrome, type 1, 312870 for gene: GPC3
Severe Paediatric Disorders v0.10 GDF5 Louise Daugherty Added phenotypes Du Pan syndrome, 228900; Chondrodysplasia, Grebe type, 200700; Symphalangism, proximal, 1B, 615298; Brachydactyly, type A1, C, 615072; ?Acromesomelic dysplasia, Hunter-Thompson type, 201250; Multiple synostoses syndrome 2, 610017; Brachydactyly, type A2, 112600; Brachydactyly, type C, 113100 for gene: GDF5
Severe Paediatric Disorders v0.10 FGFR2 Louise Daugherty Added phenotypes Apert syndrome, 101200; Saethre-Chotzen syndrome, 101400; Beare-Stevenson cutis gyrata syndrome, 123790; Pfeiffer syndrome, 101600; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410; Crouzon syndrome, 123500; Scaphocephaly and Axenfeld-Rieger anomaly; Craniofacial-skeletal-dermatologic dysplasia, 101600; Bent bone dysplasia syndrome, 614592; Craniosynostosis, nonspecific; LADD syndrome, 149730; Scaphocephaly, maxillary retrusion, and mental retardation, 609579; Jackson-Weiss syndrome, 123150 for gene: FGFR2
Severe Paediatric Disorders v0.10 FGFR1 Louise Daugherty Added phenotypes Pfeiffer syndrome, 101600; Osteoglophonic dysplasia, 166250; Hypogonadotropic hypogonadism 2 with or without anosmia, 147950; Hartsfield syndrome, 615465; Jackson-Weiss syndrome, 123150; Trigonocephaly 1, 190440 for gene: FGFR1
Severe Paediatric Disorders v0.10 FBXO7 Louise Daugherty Added phenotypes Parkinson disease 15, autosomal recessive, 260300 for gene: FBXO7
Severe Paediatric Disorders v0.10 EIF2AK3 Louise Daugherty Added phenotypes Wolcott-Rallison syndrome, 226980 for gene: EIF2AK3
Severe Paediatric Disorders v0.10 EED Louise Daugherty Added phenotypes Cohen-Gibson syndrome, 617561 for gene: EED
Severe Paediatric Disorders v0.10 DONSON Louise Daugherty Added phenotypes Microcephaly, short stature, and limb abnormalities, 617604; Microcephaly-micromelia syndrome, 251230 for gene: DONSON
Severe Paediatric Disorders v0.10 DCLRE1B Louise Daugherty Added phenotypes HoyeraalHreidarsson syndrome for gene: DCLRE1B
Severe Paediatric Disorders v0.10 COG4 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIj, 613489; Saul-Wilson syndrome, 618150 for gene: COG4
Severe Paediatric Disorders v0.10 ATP7B Louise Daugherty Added phenotypes Wilson disease, 277900 for gene: ATP7B
Severe Paediatric Disorders v0.10 ALDH3A2 Louise Daugherty Added phenotypes Sjogren-Larsson syndrome, 270200 for gene: ALDH3A2
Severe Paediatric Disorders v0.10 ABCC2 Louise Daugherty Added phenotypes Dubin-Johnson syndrome, 237500 for gene: ABCC2
Severe Paediatric Disorders v0.10 AAAS Louise Daugherty Added phenotypes Achalasia-addisonianism-alacrimia syndrome, 231550 for gene: AAAS
Severe Paediatric Disorders v0.9 SLC25A32 Louise Daugherty Added phenotypes ?Parkinsonism-dystonia, infantile, 2, 618049 for gene: SLC25A32
Severe Paediatric Disorders v0.9 ZEB2 Louise Daugherty Added phenotypes Mowat-Wilson syndrome, 235730 for gene: ZEB2
Severe Paediatric Disorders v0.9 UBR1 Louise Daugherty Added phenotypes Johanson-Blizzard syndrome, 243800 for gene: UBR1
Severe Paediatric Disorders v0.9 TBX22 Louise Daugherty Added phenotypes ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400 for gene: TBX22
Severe Paediatric Disorders v0.9 TAF1 Louise Daugherty Added phenotypes Mental retardation, X-linked, syndromic 33, 300966; Dystonia-Parkinsonism, X-linked, 314250 for gene: TAF1
Severe Paediatric Disorders v0.9 SYNJ1 Louise Daugherty Added phenotypes Parkinson disease 20, early-onset, 615530; Epileptic encephalopathy, early infantile, 53, 617389 for gene: SYNJ1
Severe Paediatric Disorders v0.9 SON Louise Daugherty Added phenotypes ZTTK syndrome, 617140 for gene: SON
Severe Paediatric Disorders v0.9 SNCA Louise Daugherty Added phenotypes Parkinson disease 1, 168601; Dementia, Lewy body, 127750; Parkinson disease 4, 605543 for gene: SNCA
Severe Paediatric Disorders v0.9 SMS Louise Daugherty Added phenotypes Mental retardation, X-linked, Snyder-Robinson type, 309583 for gene: SMS
Severe Paediatric Disorders v0.9 SLC9A6 Louise Daugherty Added phenotypes Mental retardation, X-linked syndromic, Christianson type, 300243 for gene: SLC9A6
Severe Paediatric Disorders v0.9 SLC6A3 Louise Daugherty Added phenotypes Parkinsonism-dystonia, infantile, 1, 613135 for gene: SLC6A3
Severe Paediatric Disorders v0.9 RECQL4 Louise Daugherty Added phenotypes RAPADILINO syndrome, 266280; Rothmund-Thomson syndrome, type 2,, 268400; Baller-Gerold syndrome, 218600 for gene: RECQL4
Severe Paediatric Disorders v0.9 PRKN Louise Daugherty Added phenotypes Parkinson disease, juvenile, type 2, 600116 for gene: PRKN
Severe Paediatric Disorders v0.9 PRKAG2 Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic 6, 600858; Wolff-Parkinson-White syndrome, 194200; Glycogen storage disease of heart, lethal congenital, 261740 for gene: PRKAG2
Severe Paediatric Disorders v0.9 PLA2G6 Louise Daugherty Added phenotypes Infantile neuroaxonal dystrophy 1, 256600; Parkinson disease 14, autosomal recessive, 612953; Neurodegeneration with brain iron accumulation 2B, 610217 for gene: PLA2G6
Severe Paediatric Disorders v0.9 PINK1 Louise Daugherty Added phenotypes Parkinson disease 6, early onset, 605909 for gene: PINK1
Severe Paediatric Disorders v0.9 PHF6 Louise Daugherty Added phenotypes Borjeson-Forssman-Lehmann syndrome, 301900 for gene: PHF6
Severe Paediatric Disorders v0.9 PARK7 Louise Daugherty Added phenotypes Parkinson disease 7, autosomal recessive early-onset, 606324 for gene: PARK7
Severe Paediatric Disorders v0.9 OFD1 Louise Daugherty Added phenotypes Joubert syndrome 10, 300804; ?Retinitis pigmentosa 23, 300424; Simpson-Golabi-Behmel syndrome, type 2, 300209; Orofaciodigital syndrome I, 311200 for gene: OFD1
Severe Paediatric Disorders v0.9 NF1 Louise Daugherty Added phenotypes Watson syndrome, 193520; Neurofibromatosis-Noonan syndrome, 601321; Neurofibromatosis, type 1, 162200; Neurofibromatosis, familial spinal, 162210; Leukemia, juvenile myelomonocytic, 607785 for gene: NF1
Severe Paediatric Disorders v0.9 MT-CYB Louise Daugherty Added phenotypes PARKINSONISM/MELAS OVERLAP SYNDROME; CARDIOMYOPATHY, INFANTILE HISTIOCYTOID; LEBER OPTIC ATROPHY; EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA; EXERCISE INTOLERANCE; ENCEPHALOMYOPATHY, MITOCHONDRIAL; MULTISYSTEM DISORDER for gene: MT-CYB
Severe Paediatric Disorders v0.9 MAPT Louise Daugherty Added phenotypes Pick disease, 172700; Supranuclear palsy, progressive, 601104; Supranuclear palsy, progressive atypical, 260540; Dementia, frontotemporal, with or without parkinsonism, 600274 for gene: MAPT
Severe Paediatric Disorders v0.9 LRRK2 Louise Daugherty Added phenotypes Parkinson disease 8, Autosomal Dominant, 607060 for gene: LRRK2
Severe Paediatric Disorders v0.9 LMNA Louise Daugherty Added phenotypes Hutchinson-Gilford progeria, 176670; Lipodystrophy, familial partial, type 2, 151660; Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516; Heart-hand syndrome, Slovenian type, 610140; Cardiomyopathy, dilated, 1A, 115200; Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350; Mandibuloacral dysplasia, 248370; Muscular dystrophy, congenital, 613205; Restrictive dermopathy, lethal, 275210; Charcot-Marie-Tooth disease, type 2B1, 605588; Malouf syndrome, 212112 for gene: LMNA
Severe Paediatric Disorders v0.9 LAMB2 Louise Daugherty Added phenotypes Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199; Pierson syndrome, 609049 for gene: LAMB2
Severe Paediatric Disorders v0.9 INSR Louise Daugherty Added phenotypes Leprechaunism, 246200; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Rabson-Mendenhall syndrome, 262190; Hyperinsulinemic hypoglycemia, familial, 5, 609968 for gene: INSR
Severe Paediatric Disorders v0.9 GPC3 Louise Daugherty Added phenotypes Simpson-Golabi-Behmel syndrome, type 1, 312870 for gene: GPC3
Severe Paediatric Disorders v0.9 GDF5 Louise Daugherty Added phenotypes Du Pan syndrome, 228900; Chondrodysplasia, Grebe type, 200700; Symphalangism, proximal, 1B, 615298; Brachydactyly, type A1, C, 615072; ?Acromesomelic dysplasia, Hunter-Thompson type, 201250; Multiple synostoses syndrome 2, 610017; Brachydactyly, type A2, 112600; Brachydactyly, type C, 113100 for gene: GDF5
Severe Paediatric Disorders v0.9 FGFR2 Louise Daugherty Added phenotypes Apert syndrome, 101200; Saethre-Chotzen syndrome, 101400; Beare-Stevenson cutis gyrata syndrome, 123790; Pfeiffer syndrome, 101600; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410; Crouzon syndrome, 123500; Scaphocephaly and Axenfeld-Rieger anomaly; Craniofacial-skeletal-dermatologic dysplasia, 101600; Bent bone dysplasia syndrome, 614592; Craniosynostosis, nonspecific; LADD syndrome, 149730; Scaphocephaly, maxillary retrusion, and mental retardation, 609579; Jackson-Weiss syndrome, 123150 for gene: FGFR2
Severe Paediatric Disorders v0.9 FGFR1 Louise Daugherty Added phenotypes Pfeiffer syndrome, 101600; Osteoglophonic dysplasia, 166250; Hypogonadotropic hypogonadism 2 with or without anosmia, 147950; Hartsfield syndrome, 615465; Jackson-Weiss syndrome, 123150; Trigonocephaly 1, 190440 for gene: FGFR1
Severe Paediatric Disorders v0.9 FBXO7 Louise Daugherty Added phenotypes Parkinson disease 15, autosomal recessive, 260300 for gene: FBXO7
Severe Paediatric Disorders v0.9 EIF2AK3 Louise Daugherty Added phenotypes Wolcott-Rallison syndrome, 226980 for gene: EIF2AK3
Severe Paediatric Disorders v0.9 EED Louise Daugherty Added phenotypes Cohen-Gibson syndrome, 617561 for gene: EED
Severe Paediatric Disorders v0.9 DONSON Louise Daugherty Added phenotypes Microcephaly, short stature, and limb abnormalities, 617604; Microcephaly-micromelia syndrome, 251230 for gene: DONSON
Severe Paediatric Disorders v0.9 DCLRE1B Louise Daugherty Added phenotypes HoyeraalHreidarsson syndrome for gene: DCLRE1B
Severe Paediatric Disorders v0.9 COG4 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIj, 613489; Saul-Wilson syndrome, 618150 for gene: COG4
Severe Paediatric Disorders v0.9 ATP7B Louise Daugherty Added phenotypes Wilson disease, 277900 for gene: ATP7B
Severe Paediatric Disorders v0.9 ALDH3A2 Louise Daugherty Added phenotypes Sjogren-Larsson syndrome, 270200 for gene: ALDH3A2
Severe Paediatric Disorders v0.9 ABCC2 Louise Daugherty Added phenotypes Dubin-Johnson syndrome, 237500 for gene: ABCC2
Severe Paediatric Disorders v0.9 AAAS Louise Daugherty Added phenotypes Achalasia-addisonianism-alacrimia syndrome, 231550 for gene: AAAS
Severe Paediatric Disorders v0.9 SLC25A32 Louise Daugherty Added phenotypes ?Parkinsonism-dystonia, infantile, 2, 618049 for gene: SLC25A32
Severe Paediatric Disorders v0.9 ZEB2 Louise Daugherty Added phenotypes Mowat-Wilson syndrome, 235730 for gene: ZEB2
Severe Paediatric Disorders v0.9 UBR1 Louise Daugherty Added phenotypes Johanson-Blizzard syndrome, 243800 for gene: UBR1
Severe Paediatric Disorders v0.9 TBX22 Louise Daugherty Added phenotypes ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400 for gene: TBX22
Severe Paediatric Disorders v0.9 TAF1 Louise Daugherty Added phenotypes Mental retardation, X-linked, syndromic 33, 300966; Dystonia-Parkinsonism, X-linked, 314250 for gene: TAF1
Severe Paediatric Disorders v0.9 SYNJ1 Louise Daugherty Added phenotypes Parkinson disease 20, early-onset, 615530; Epileptic encephalopathy, early infantile, 53, 617389 for gene: SYNJ1
Severe Paediatric Disorders v0.9 SON Louise Daugherty Added phenotypes ZTTK syndrome, 617140 for gene: SON
Severe Paediatric Disorders v0.9 SNCA Louise Daugherty Added phenotypes Parkinson disease 1, 168601; Dementia, Lewy body, 127750; Parkinson disease 4, 605543 for gene: SNCA
Severe Paediatric Disorders v0.9 SMS Louise Daugherty Added phenotypes Mental retardation, X-linked, Snyder-Robinson type, 309583 for gene: SMS
Severe Paediatric Disorders v0.9 SLC9A6 Louise Daugherty Added phenotypes Mental retardation, X-linked syndromic, Christianson type, 300243 for gene: SLC9A6
Severe Paediatric Disorders v0.9 SLC6A3 Louise Daugherty Added phenotypes Parkinsonism-dystonia, infantile, 1, 613135 for gene: SLC6A3
Severe Paediatric Disorders v0.9 RECQL4 Louise Daugherty Added phenotypes RAPADILINO syndrome, 266280; Rothmund-Thomson syndrome, type 2,, 268400; Baller-Gerold syndrome, 218600 for gene: RECQL4
Severe Paediatric Disorders v0.9 PRKN Louise Daugherty Added phenotypes Parkinson disease, juvenile, type 2, 600116 for gene: PRKN
Severe Paediatric Disorders v0.9 PRKAG2 Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic 6, 600858; Wolff-Parkinson-White syndrome, 194200; Glycogen storage disease of heart, lethal congenital, 261740 for gene: PRKAG2
Severe Paediatric Disorders v0.9 PLA2G6 Louise Daugherty Added phenotypes Infantile neuroaxonal dystrophy 1, 256600; Parkinson disease 14, autosomal recessive, 612953; Neurodegeneration with brain iron accumulation 2B, 610217 for gene: PLA2G6
Severe Paediatric Disorders v0.9 PINK1 Louise Daugherty Added phenotypes Parkinson disease 6, early onset, 605909 for gene: PINK1
Severe Paediatric Disorders v0.9 PHF6 Louise Daugherty Added phenotypes Borjeson-Forssman-Lehmann syndrome, 301900 for gene: PHF6
Severe Paediatric Disorders v0.9 PARK7 Louise Daugherty Added phenotypes Parkinson disease 7, autosomal recessive early-onset, 606324 for gene: PARK7
Severe Paediatric Disorders v0.9 OFD1 Louise Daugherty Added phenotypes Joubert syndrome 10, 300804; ?Retinitis pigmentosa 23, 300424; Simpson-Golabi-Behmel syndrome, type 2, 300209; Orofaciodigital syndrome I, 311200 for gene: OFD1
Severe Paediatric Disorders v0.9 NF1 Louise Daugherty Added phenotypes Watson syndrome, 193520; Neurofibromatosis-Noonan syndrome, 601321; Neurofibromatosis, type 1, 162200; Neurofibromatosis, familial spinal, 162210; Leukemia, juvenile myelomonocytic, 607785 for gene: NF1
Severe Paediatric Disorders v0.9 MT-CYB Louise Daugherty Added phenotypes PARKINSONISM/MELAS OVERLAP SYNDROME; CARDIOMYOPATHY, INFANTILE HISTIOCYTOID; LEBER OPTIC ATROPHY; EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA; EXERCISE INTOLERANCE; ENCEPHALOMYOPATHY, MITOCHONDRIAL; MULTISYSTEM DISORDER for gene: MT-CYB
Severe Paediatric Disorders v0.9 MAPT Louise Daugherty Added phenotypes Pick disease, 172700; Supranuclear palsy, progressive, 601104; Supranuclear palsy, progressive atypical, 260540; Dementia, frontotemporal, with or without parkinsonism, 600274 for gene: MAPT
Severe Paediatric Disorders v0.9 LRRK2 Louise Daugherty Added phenotypes Parkinson disease 8, Autosomal Dominant, 607060 for gene: LRRK2
Severe Paediatric Disorders v0.9 LMNA Louise Daugherty Added phenotypes Hutchinson-Gilford progeria, 176670; Lipodystrophy, familial partial, type 2, 151660; Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516; Heart-hand syndrome, Slovenian type, 610140; Cardiomyopathy, dilated, 1A, 115200; Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350; Mandibuloacral dysplasia, 248370; Muscular dystrophy, congenital, 613205; Restrictive dermopathy, lethal, 275210; Charcot-Marie-Tooth disease, type 2B1, 605588; Malouf syndrome, 212112 for gene: LMNA
Severe Paediatric Disorders v0.9 LAMB2 Louise Daugherty Added phenotypes Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199; Pierson syndrome, 609049 for gene: LAMB2
Severe Paediatric Disorders v0.9 INSR Louise Daugherty Added phenotypes Leprechaunism, 246200; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Rabson-Mendenhall syndrome, 262190; Hyperinsulinemic hypoglycemia, familial, 5, 609968 for gene: INSR
Severe Paediatric Disorders v0.9 GPC3 Louise Daugherty Added phenotypes Simpson-Golabi-Behmel syndrome, type 1, 312870 for gene: GPC3
Severe Paediatric Disorders v0.9 GDF5 Louise Daugherty Added phenotypes Du Pan syndrome, 228900; Chondrodysplasia, Grebe type, 200700; Symphalangism, proximal, 1B, 615298; Brachydactyly, type A1, C, 615072; ?Acromesomelic dysplasia, Hunter-Thompson type, 201250; Multiple synostoses syndrome 2, 610017; Brachydactyly, type A2, 112600; Brachydactyly, type C, 113100 for gene: GDF5
Severe Paediatric Disorders v0.9 FGFR2 Louise Daugherty Added phenotypes Apert syndrome, 101200; Saethre-Chotzen syndrome, 101400; Beare-Stevenson cutis gyrata syndrome, 123790; Pfeiffer syndrome, 101600; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410; Crouzon syndrome, 123500; Scaphocephaly and Axenfeld-Rieger anomaly; Craniofacial-skeletal-dermatologic dysplasia, 101600; Bent bone dysplasia syndrome, 614592; Craniosynostosis, nonspecific; LADD syndrome, 149730; Scaphocephaly, maxillary retrusion, and mental retardation, 609579; Jackson-Weiss syndrome, 123150 for gene: FGFR2
Severe Paediatric Disorders v0.9 FGFR1 Louise Daugherty Added phenotypes Pfeiffer syndrome, 101600; Osteoglophonic dysplasia, 166250; Hypogonadotropic hypogonadism 2 with or without anosmia, 147950; Hartsfield syndrome, 615465; Jackson-Weiss syndrome, 123150; Trigonocephaly 1, 190440 for gene: FGFR1
Severe Paediatric Disorders v0.9 FBXO7 Louise Daugherty Added phenotypes Parkinson disease 15, autosomal recessive, 260300 for gene: FBXO7
Severe Paediatric Disorders v0.9 EIF2AK3 Louise Daugherty Added phenotypes Wolcott-Rallison syndrome, 226980 for gene: EIF2AK3
Severe Paediatric Disorders v0.9 EED Louise Daugherty Added phenotypes Cohen-Gibson syndrome, 617561 for gene: EED
Severe Paediatric Disorders v0.9 DONSON Louise Daugherty Added phenotypes Microcephaly, short stature, and limb abnormalities, 617604; Microcephaly-micromelia syndrome, 251230 for gene: DONSON
Severe Paediatric Disorders v0.9 DCLRE1B Louise Daugherty Added phenotypes HoyeraalHreidarsson syndrome for gene: DCLRE1B
Severe Paediatric Disorders v0.9 COG4 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIj, 613489; Saul-Wilson syndrome, 618150 for gene: COG4
Severe Paediatric Disorders v0.9 ATP7B Louise Daugherty Added phenotypes Wilson disease, 277900 for gene: ATP7B
Severe Paediatric Disorders v0.9 ALDH3A2 Louise Daugherty Added phenotypes Sjogren-Larsson syndrome, 270200 for gene: ALDH3A2
Severe Paediatric Disorders v0.9 ABCC2 Louise Daugherty Added phenotypes Dubin-Johnson syndrome, 237500 for gene: ABCC2
Severe Paediatric Disorders v0.9 AAAS Louise Daugherty Added phenotypes Achalasia-addisonianism-alacrimia syndrome, 231550 for gene: AAAS
Severe Paediatric Disorders v0.8 SLC25A32 Louise Daugherty Added phenotypes ?Parkinsonism-dystonia, infantile, 2, 618049 for gene: SLC25A32
Severe Paediatric Disorders v0.8 ZEB2 Louise Daugherty Added phenotypes Mowat-Wilson syndrome, 235730 for gene: ZEB2
Severe Paediatric Disorders v0.8 UBR1 Louise Daugherty Added phenotypes Johanson-Blizzard syndrome, 243800 for gene: UBR1
Severe Paediatric Disorders v0.8 TBX22 Louise Daugherty Added phenotypes ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400 for gene: TBX22
Severe Paediatric Disorders v0.8 TAF1 Louise Daugherty Added phenotypes Mental retardation, X-linked, syndromic 33, 300966; Dystonia-Parkinsonism, X-linked, 314250 for gene: TAF1
Severe Paediatric Disorders v0.8 SYNJ1 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 53, 617389; Parkinson disease 20, early-onset, 615530 for gene: SYNJ1
Severe Paediatric Disorders v0.8 SON Louise Daugherty Added phenotypes ZTTK syndrome, 617140 for gene: SON
Severe Paediatric Disorders v0.8 SNCA Louise Daugherty Added phenotypes Parkinson disease 4, 605543; Dementia, Lewy body, 127750; Parkinson disease 1, 168601 for gene: SNCA
Severe Paediatric Disorders v0.8 SMS Louise Daugherty Added phenotypes Mental retardation, X-linked, Snyder-Robinson type, 309583 for gene: SMS
Severe Paediatric Disorders v0.8 SLC9A6 Louise Daugherty Added phenotypes Mental retardation, X-linked syndromic, Christianson type, 300243 for gene: SLC9A6
Severe Paediatric Disorders v0.8 SLC6A3 Louise Daugherty Added phenotypes Parkinsonism-dystonia, infantile, 1, 613135 for gene: SLC6A3
Severe Paediatric Disorders v0.8 RECQL4 Louise Daugherty Added phenotypes Baller-Gerold syndrome, 218600; Rothmund-Thomson syndrome, type 2,, 268400; RAPADILINO syndrome, 266280 for gene: RECQL4
Severe Paediatric Disorders v0.8 PRKN Louise Daugherty Added phenotypes Parkinson disease, juvenile, type 2, 600116 for gene: PRKN
Severe Paediatric Disorders v0.8 PRKAG2 Louise Daugherty Added phenotypes Glycogen storage disease of heart, lethal congenital, 261740; Cardiomyopathy, hypertrophic 6, 600858; Wolff-Parkinson-White syndrome, 194200 for gene: PRKAG2
Severe Paediatric Disorders v0.8 PLA2G6 Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 2B, 610217; Infantile neuroaxonal dystrophy 1, 256600; Parkinson disease 14, autosomal recessive, 612953 for gene: PLA2G6
Severe Paediatric Disorders v0.8 PINK1 Louise Daugherty Added phenotypes Parkinson disease 6, early onset, 605909 for gene: PINK1
Severe Paediatric Disorders v0.8 PHF6 Louise Daugherty Added phenotypes Borjeson-Forssman-Lehmann syndrome, 301900 for gene: PHF6
Severe Paediatric Disorders v0.8 PARK7 Louise Daugherty Added phenotypes Parkinson disease 7, autosomal recessive early-onset, 606324 for gene: PARK7
Severe Paediatric Disorders v0.8 OFD1 Louise Daugherty Added phenotypes Joubert syndrome 10, 300804; Simpson-Golabi-Behmel syndrome, type 2, 300209; Orofaciodigital syndrome I, 311200; ?Retinitis pigmentosa 23, 300424 for gene: OFD1
Severe Paediatric Disorders v0.8 NF1 Louise Daugherty Added phenotypes Neurofibromatosis, type 1, 162200; Neurofibromatosis-Noonan syndrome, 601321; Watson syndrome, 193520; Neurofibromatosis, familial spinal, 162210; Leukemia, juvenile myelomonocytic, 607785 for gene: NF1
Severe Paediatric Disorders v0.8 MT-CYB Louise Daugherty Added phenotypes EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA; ENCEPHALOMYOPATHY, MITOCHONDRIAL; PARKINSONISM/MELAS OVERLAP SYNDROME; CARDIOMYOPATHY, INFANTILE HISTIOCYTOID; EXERCISE INTOLERANCE; LEBER OPTIC ATROPHY; MULTISYSTEM DISORDER for gene: MT-CYB
Severe Paediatric Disorders v0.8 MAPT Louise Daugherty Added phenotypes Dementia, frontotemporal, with or without parkinsonism, 600274; Supranuclear palsy, progressive atypical, 260540; Supranuclear palsy, progressive, 601104; Pick disease, 172700 for gene: MAPT
Severe Paediatric Disorders v0.8 LRRK2 Louise Daugherty Added phenotypes Parkinson disease 8, Autosomal Dominant, 607060 for gene: LRRK2
Severe Paediatric Disorders v0.8 LMNA Louise Daugherty Added phenotypes Lipodystrophy, familial partial, type 2, 151660; Cardiomyopathy, dilated, 1A, 115200; Hutchinson-Gilford progeria, 176670; Restrictive dermopathy, lethal, 275210; Heart-hand syndrome, Slovenian type, 610140; Malouf syndrome, 212112; Mandibuloacral dysplasia, 248370; Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516; Charcot-Marie-Tooth disease, type 2B1, 605588; Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350; Muscular dystrophy, congenital, 613205 for gene: LMNA
Severe Paediatric Disorders v0.8 LAMB2 Louise Daugherty Added phenotypes Pierson syndrome, 609049; Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 for gene: LAMB2
Severe Paediatric Disorders v0.8 INSR Louise Daugherty Added phenotypes Hyperinsulinemic hypoglycemia, familial, 5, 609968; Leprechaunism, 246200; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Rabson-Mendenhall syndrome, 262190 for gene: INSR
Severe Paediatric Disorders v0.8 GPC3 Louise Daugherty Added phenotypes Simpson-Golabi-Behmel syndrome, type 1, 312870 for gene: GPC3
Severe Paediatric Disorders v0.8 GDF5 Louise Daugherty Added phenotypes Brachydactyly, type C, 113100; Du Pan syndrome, 228900; Symphalangism, proximal, 1B, 615298; ?Acromesomelic dysplasia, Hunter-Thompson type, 201250; Multiple synostoses syndrome 2, 610017; Chondrodysplasia, Grebe type, 200700; Brachydactyly, type A1, C, 615072; Brachydactyly, type A2, 112600 for gene: GDF5
Severe Paediatric Disorders v0.8 FGFR2 Louise Daugherty Added phenotypes Jackson-Weiss syndrome, 123150; Beare-Stevenson cutis gyrata syndrome, 123790; Craniosynostosis, nonspecific; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410; Saethre-Chotzen syndrome, 101400; Crouzon syndrome, 123500; LADD syndrome, 149730; Bent bone dysplasia syndrome, 614592; Scaphocephaly, maxillary retrusion, and mental retardation, 609579; Pfeiffer syndrome, 101600; Apert syndrome, 101200; Craniofacial-skeletal-dermatologic dysplasia, 101600; Scaphocephaly and Axenfeld-Rieger anomaly for gene: FGFR2
Severe Paediatric Disorders v0.8 FGFR1 Louise Daugherty Added phenotypes Jackson-Weiss syndrome, 123150; Trigonocephaly 1, 190440; Hypogonadotropic hypogonadism 2 with or without anosmia, 147950; Osteoglophonic dysplasia, 166250; Pfeiffer syndrome, 101600; Hartsfield syndrome, 615465 for gene: FGFR1
Severe Paediatric Disorders v0.8 FBXO7 Louise Daugherty Added phenotypes Parkinson disease 15, autosomal recessive, 260300 for gene: FBXO7
Severe Paediatric Disorders v0.8 EIF2AK3 Louise Daugherty Added phenotypes Wolcott-Rallison syndrome, 226980 for gene: EIF2AK3
Severe Paediatric Disorders v0.8 EED Louise Daugherty Added phenotypes Cohen-Gibson syndrome, 617561 for gene: EED
Severe Paediatric Disorders v0.8 DONSON Louise Daugherty Added phenotypes Microcephaly-micromelia syndrome, 251230; Microcephaly, short stature, and limb abnormalities, 617604 for gene: DONSON
Severe Paediatric Disorders v0.8 DCLRE1B Louise Daugherty Added phenotypes HoyeraalHreidarsson syndrome for gene: DCLRE1B
Severe Paediatric Disorders v0.8 COG4 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIj, 613489; Saul-Wilson syndrome, 618150 for gene: COG4
Severe Paediatric Disorders v0.8 ATP7B Louise Daugherty Added phenotypes Wilson disease, 277900 for gene: ATP7B
Severe Paediatric Disorders v0.8 ALDH3A2 Louise Daugherty Added phenotypes Sjogren-Larsson syndrome, 270200 for gene: ALDH3A2
Severe Paediatric Disorders v0.8 ABCC2 Louise Daugherty Added phenotypes Dubin-Johnson syndrome, 237500 for gene: ABCC2
Severe Paediatric Disorders v0.8 AAAS Louise Daugherty Added phenotypes Achalasia-addisonianism-alacrimia syndrome, 231550 for gene: AAAS
Severe Paediatric Disorders v0.8 SLC25A32 Louise Daugherty Mode of inheritance for gene SLC25A32 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Parkinsonism-dystonia, infantile, 2, 618049 for gene: SLC25A32
Severe Paediatric Disorders v0.8 ZEB2 Louise Daugherty Mode of inheritance for gene ZEB2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Mowat-Wilson syndrome, 235730 for gene: ZEB2
Severe Paediatric Disorders v0.8 UBR1 Louise Daugherty Mode of inheritance for gene UBR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Johanson-Blizzard syndrome, 243800 for gene: UBR1
Severe Paediatric Disorders v0.8 TBX22 Louise Daugherty Mode of inheritance for gene TBX22 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 ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400 for gene: TBX22
Severe Paediatric Disorders v0.8 TAF1 Louise Daugherty Mode of inheritance for gene TAF1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Mental retardation, X-linked, syndromic 33, 300966; Dystonia-Parkinsonism, X-linked, 314250 for gene: TAF1
Severe Paediatric Disorders v0.8 SYNJ1 Louise Daugherty Mode of inheritance for gene SYNJ1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Parkinson disease 20, early-onset, 615530; Epileptic encephalopathy, early infantile, 53, 617389 for gene: SYNJ1
Severe Paediatric Disorders v0.8 SON Louise Daugherty Mode of inheritance for gene SON was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes ZTTK syndrome, 617140 for gene: SON
Severe Paediatric Disorders v0.8 SNCA Louise Daugherty Mode of inheritance for gene SNCA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Parkinson disease 1, 168601; Dementia, Lewy body, 127750; Parkinson disease 4, 605543 for gene: SNCA
Severe Paediatric Disorders v0.8 SMS Louise Daugherty Mode of inheritance for gene SMS was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Mental retardation, X-linked, Snyder-Robinson type, 309583 for gene: SMS
Severe Paediatric Disorders v0.8 SLC9A6 Louise Daugherty Mode of inheritance for gene SLC9A6 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 Mental retardation, X-linked syndromic, Christianson type, 300243 for gene: SLC9A6
Severe Paediatric Disorders v0.8 SLC6A3 Louise Daugherty Mode of inheritance for gene SLC6A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Parkinsonism-dystonia, infantile, 1, 613135 for gene: SLC6A3
Severe Paediatric Disorders v0.7 SON Louise Daugherty Source Next Generation Children Project was added to SON.
Severe Paediatric Disorders v0.7 DONSON Louise Daugherty Source Next Generation Children Project was added to DONSON.
Severe Paediatric Disorders v0.5 SON Louise Daugherty Source Expert Review Green was added to SON.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 DONSON Louise Daugherty Source Expert Review Green was added to DONSON.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 SON Louise Daugherty gene: SON was added
gene: SON was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SON was set to
Severe Paediatric Disorders v0.4 DONSON Louise Daugherty gene: DONSON was added
gene: DONSON was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: DONSON was set to