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Severe Paediatric Disorders v1.150 NFASC Sarah Leigh Phenotypes for gene: NFASC were changed from Neurodevelopmental disorder with central and peripheral motor dysfunction, 618356 to Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356; neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:003269
Severe Paediatric Disorders v0.17 DYSF Louise Daugherty Mode of inheritance for gene DYSF was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 DYSF Louise Daugherty reviewed gene: DYSF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 DYSF Louise Daugherty Publications for gene DYSF were updated from to 30847515
Severe Paediatric Disorders v0.10 XRCC4 Louise Daugherty Added phenotypes Short stature, microcephaly, and endocrine dysfunction, 616541 for gene: XRCC4
Severe Paediatric Disorders v0.10 VPS33B Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 for gene: VPS33B
Severe Paediatric Disorders v0.10 VIPAS39 Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 for gene: VIPAS39
Severe Paediatric Disorders v0.10 TPK1 Louise Daugherty Added phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 for gene: TPK1
Severe Paediatric Disorders v0.10 SLC25A19 Louise Daugherty Added phenotypes Microcephaly, Amish type, 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 for gene: SLC25A19
Severe Paediatric Disorders v0.10 SLC19A3 Louise Daugherty Added phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 for gene: SLC19A3
Severe Paediatric Disorders v0.10 SFTPB Louise Daugherty Added phenotypes Surfactant metabolism dysfunction, pulmonary, 1, 265120 for gene: SFTPB
Severe Paediatric Disorders v0.10 PMPCB Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 6, 617954 for gene: PMPCB
Severe Paediatric Disorders v0.10 PLA2G4A Louise Daugherty Added phenotypes Gastrointestinal ulceration, recurrent, with dysfunctional platelets, 618372 for gene: PLA2G4A
Severe Paediatric Disorders v0.10 OTX2 Louise Daugherty Added phenotypes Microphthalmia, syndromic 5, 610125; Pituitary hormone deficiency, combined, 6, 613986; Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125 for gene: OTX2
Severe Paediatric Disorders v0.10 NFU1 Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 1, 605711 for gene: NFU1
Severe Paediatric Disorders v0.10 NFASC Louise Daugherty Added phenotypes Neurodevelopmental disorder with central and peripheral motor dysfunction, 618356 for gene: NFASC
Severe Paediatric Disorders v0.10 ISCA2 Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 4, 616370 for gene: ISCA2
Severe Paediatric Disorders v0.10 ISCA1 Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 5, 617613 for gene: ISCA1
Severe Paediatric Disorders v0.10 IBA57 Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 3, 615330; ?Spastic paraplegia 74, autosomal recessive, 616451 for gene: IBA57
Severe Paediatric Disorders v0.10 FGG Louise Daugherty Added phenotypes Dysfibrinogenemia, congenital, 616004; Hypodysfibrinogenemia, 616004; Afibrinogenemia, congenital, 202400; Hypofibrinogenemia, congenital, 202400 for gene: FGG
Severe Paediatric Disorders v0.10 FGB Louise Daugherty Added phenotypes Dysfibrinogenemia, congenital, 616004; Afibrinogenemia, congenital, 202400; Hypofibrinogenemia, congenital, 202400 for gene: FGB
Severe Paediatric Disorders v0.10 FGA Louise Daugherty Added phenotypes Dysfibrinogenemia, congenital, 616004; Hypodysfibrinogenemia, congenital, 616004; Afibrinogenemia, congenital, 202400; Amyloidosis, familial visceral, 105200 for gene: FGA
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 DYSF Louise Daugherty Added phenotypes Myopathy, distal, with anterior tibial onset, 606768; Muscular dystrophy, limb-girdle, autosomal recessive 2, 253601; Miyoshi muscular dystrophy 1, 254130 for gene: DYSF
Severe Paediatric Disorders v0.10 CSF2RB Louise Daugherty Added phenotypes Surfactant metabolism dysfunction, pulmonary, 5, 614370 for gene: CSF2RB
Severe Paediatric Disorders v0.10 CSF2RA Louise Daugherty Added phenotypes Surfactant metabolism dysfunction, pulmonary, 4, 300770 for gene: CSF2RA
Severe Paediatric Disorders v0.10 CACNA1D Louise Daugherty Added phenotypes Primary aldosteronism, seizures, and neurologic abnormalities, 615474; Sinoatrial node dysfunction and deafness, 614896 for gene: CACNA1D
Severe Paediatric Disorders v0.10 BSND Louise Daugherty Added phenotypes Sensorineural deafness with mild renal dysfunction, 602522; Bartter syndrome, type 4a, 602522 for gene: BSND
Severe Paediatric Disorders v0.10 BOLA3 Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, 614299 for gene: BOLA3
Severe Paediatric Disorders v0.10 ACTA2 Louise Daugherty Added phenotypes Multisystemic smooth muscle dysfunction syndrome, 613834; Moyamoya disease 5, 614042; Aortic aneurysm, familial thoracic 6, 611788 for gene: ACTA2
Severe Paediatric Disorders v0.10 ABCA3 Louise Daugherty Added phenotypes Surfactant metabolism dysfunction, pulmonary, 3, 610921 for gene: ABCA3
Severe Paediatric Disorders v0.9 XRCC4 Louise Daugherty Added phenotypes Short stature, microcephaly, and endocrine dysfunction, 616541 for gene: XRCC4
Severe Paediatric Disorders v0.9 VPS33B Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 for gene: VPS33B
Severe Paediatric Disorders v0.9 VIPAS39 Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 for gene: VIPAS39
Severe Paediatric Disorders v0.9 TPK1 Louise Daugherty Added phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 for gene: TPK1
Severe Paediatric Disorders v0.9 SLC25A19 Louise Daugherty Added phenotypes Microcephaly, Amish type, 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 for gene: SLC25A19
Severe Paediatric Disorders v0.9 SLC19A3 Louise Daugherty Added phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 for gene: SLC19A3
Severe Paediatric Disorders v0.9 SFTPB Louise Daugherty Added phenotypes Surfactant metabolism dysfunction, pulmonary, 1, 265120 for gene: SFTPB
Severe Paediatric Disorders v0.9 PMPCB Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 6, 617954 for gene: PMPCB
Severe Paediatric Disorders v0.9 PLA2G4A Louise Daugherty Added phenotypes Gastrointestinal ulceration, recurrent, with dysfunctional platelets, 618372 for gene: PLA2G4A
Severe Paediatric Disorders v0.9 OTX2 Louise Daugherty Added phenotypes Microphthalmia, syndromic 5, 610125; Pituitary hormone deficiency, combined, 6, 613986; Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125 for gene: OTX2
Severe Paediatric Disorders v0.9 NFU1 Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 1, 605711 for gene: NFU1
Severe Paediatric Disorders v0.9 NFASC Louise Daugherty Added phenotypes Neurodevelopmental disorder with central and peripheral motor dysfunction, 618356 for gene: NFASC
Severe Paediatric Disorders v0.9 ISCA2 Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 4, 616370 for gene: ISCA2
Severe Paediatric Disorders v0.9 ISCA1 Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 5, 617613 for gene: ISCA1
Severe Paediatric Disorders v0.9 IBA57 Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 3, 615330; ?Spastic paraplegia 74, autosomal recessive, 616451 for gene: IBA57
Severe Paediatric Disorders v0.9 FGG Louise Daugherty Added phenotypes Dysfibrinogenemia, congenital, 616004; Hypodysfibrinogenemia, 616004; Afibrinogenemia, congenital, 202400; Hypofibrinogenemia, congenital, 202400 for gene: FGG
Severe Paediatric Disorders v0.9 FGB Louise Daugherty Added phenotypes Dysfibrinogenemia, congenital, 616004; Afibrinogenemia, congenital, 202400; Hypofibrinogenemia, congenital, 202400 for gene: FGB
Severe Paediatric Disorders v0.9 FGA Louise Daugherty Added phenotypes Dysfibrinogenemia, congenital, 616004; Hypodysfibrinogenemia, congenital, 616004; Afibrinogenemia, congenital, 202400; Amyloidosis, familial visceral, 105200 for gene: FGA
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 DYSF Louise Daugherty Added phenotypes Myopathy, distal, with anterior tibial onset, 606768; Muscular dystrophy, limb-girdle, autosomal recessive 2, 253601; Miyoshi muscular dystrophy 1, 254130 for gene: DYSF
Severe Paediatric Disorders v0.9 CSF2RB Louise Daugherty Added phenotypes Surfactant metabolism dysfunction, pulmonary, 5, 614370 for gene: CSF2RB
Severe Paediatric Disorders v0.9 CSF2RA Louise Daugherty Added phenotypes Surfactant metabolism dysfunction, pulmonary, 4, 300770 for gene: CSF2RA
Severe Paediatric Disorders v0.9 CACNA1D Louise Daugherty Added phenotypes Primary aldosteronism, seizures, and neurologic abnormalities, 615474; Sinoatrial node dysfunction and deafness, 614896 for gene: CACNA1D
Severe Paediatric Disorders v0.9 BSND Louise Daugherty Added phenotypes Sensorineural deafness with mild renal dysfunction, 602522; Bartter syndrome, type 4a, 602522 for gene: BSND
Severe Paediatric Disorders v0.9 BOLA3 Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, 614299 for gene: BOLA3
Severe Paediatric Disorders v0.9 ACTA2 Louise Daugherty Added phenotypes Multisystemic smooth muscle dysfunction syndrome, 613834; Moyamoya disease 5, 614042; Aortic aneurysm, familial thoracic 6, 611788 for gene: ACTA2
Severe Paediatric Disorders v0.9 ABCA3 Louise Daugherty Added phenotypes Surfactant metabolism dysfunction, pulmonary, 3, 610921 for gene: ABCA3
Severe Paediatric Disorders v0.9 XRCC4 Louise Daugherty Added phenotypes Short stature, microcephaly, and endocrine dysfunction, 616541 for gene: XRCC4
Severe Paediatric Disorders v0.9 VPS33B Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 for gene: VPS33B
Severe Paediatric Disorders v0.9 VIPAS39 Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 for gene: VIPAS39
Severe Paediatric Disorders v0.9 TPK1 Louise Daugherty Added phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 for gene: TPK1
Severe Paediatric Disorders v0.9 SLC25A19 Louise Daugherty Added phenotypes Microcephaly, Amish type, 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 for gene: SLC25A19
Severe Paediatric Disorders v0.9 SLC19A3 Louise Daugherty Added phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 for gene: SLC19A3
Severe Paediatric Disorders v0.9 SFTPB Louise Daugherty Added phenotypes Surfactant metabolism dysfunction, pulmonary, 1, 265120 for gene: SFTPB
Severe Paediatric Disorders v0.9 PMPCB Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 6, 617954 for gene: PMPCB
Severe Paediatric Disorders v0.9 PLA2G4A Louise Daugherty Added phenotypes Gastrointestinal ulceration, recurrent, with dysfunctional platelets, 618372 for gene: PLA2G4A
Severe Paediatric Disorders v0.9 OTX2 Louise Daugherty Added phenotypes Microphthalmia, syndromic 5, 610125; Pituitary hormone deficiency, combined, 6, 613986; Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125 for gene: OTX2
Severe Paediatric Disorders v0.9 NFU1 Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 1, 605711 for gene: NFU1
Severe Paediatric Disorders v0.9 NFASC Louise Daugherty Added phenotypes Neurodevelopmental disorder with central and peripheral motor dysfunction, 618356 for gene: NFASC
Severe Paediatric Disorders v0.9 ISCA2 Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 4, 616370 for gene: ISCA2
Severe Paediatric Disorders v0.9 ISCA1 Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 5, 617613 for gene: ISCA1
Severe Paediatric Disorders v0.9 IBA57 Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 3, 615330; ?Spastic paraplegia 74, autosomal recessive, 616451 for gene: IBA57
Severe Paediatric Disorders v0.9 FGG Louise Daugherty Added phenotypes Dysfibrinogenemia, congenital, 616004; Hypodysfibrinogenemia, 616004; Afibrinogenemia, congenital, 202400; Hypofibrinogenemia, congenital, 202400 for gene: FGG
Severe Paediatric Disorders v0.9 FGB Louise Daugherty Added phenotypes Dysfibrinogenemia, congenital, 616004; Afibrinogenemia, congenital, 202400; Hypofibrinogenemia, congenital, 202400 for gene: FGB
Severe Paediatric Disorders v0.9 FGA Louise Daugherty Added phenotypes Dysfibrinogenemia, congenital, 616004; Hypodysfibrinogenemia, congenital, 616004; Afibrinogenemia, congenital, 202400; Amyloidosis, familial visceral, 105200 for gene: FGA
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 DYSF Louise Daugherty Added phenotypes Myopathy, distal, with anterior tibial onset, 606768; Muscular dystrophy, limb-girdle, autosomal recessive 2, 253601; Miyoshi muscular dystrophy 1, 254130 for gene: DYSF
Severe Paediatric Disorders v0.9 CSF2RB Louise Daugherty Added phenotypes Surfactant metabolism dysfunction, pulmonary, 5, 614370 for gene: CSF2RB
Severe Paediatric Disorders v0.9 CSF2RA Louise Daugherty Added phenotypes Surfactant metabolism dysfunction, pulmonary, 4, 300770 for gene: CSF2RA
Severe Paediatric Disorders v0.9 CACNA1D Louise Daugherty Added phenotypes Primary aldosteronism, seizures, and neurologic abnormalities, 615474; Sinoatrial node dysfunction and deafness, 614896 for gene: CACNA1D
Severe Paediatric Disorders v0.9 BSND Louise Daugherty Added phenotypes Sensorineural deafness with mild renal dysfunction, 602522; Bartter syndrome, type 4a, 602522 for gene: BSND
Severe Paediatric Disorders v0.9 BOLA3 Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, 614299 for gene: BOLA3
Severe Paediatric Disorders v0.9 ACTA2 Louise Daugherty Added phenotypes Multisystemic smooth muscle dysfunction syndrome, 613834; Moyamoya disease 5, 614042; Aortic aneurysm, familial thoracic 6, 611788 for gene: ACTA2
Severe Paediatric Disorders v0.9 ABCA3 Louise Daugherty Added phenotypes Surfactant metabolism dysfunction, pulmonary, 3, 610921 for gene: ABCA3
Severe Paediatric Disorders v0.8 XRCC4 Louise Daugherty Added phenotypes Short stature, microcephaly, and endocrine dysfunction, 616541 for gene: XRCC4
Severe Paediatric Disorders v0.8 VPS33B Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 for gene: VPS33B
Severe Paediatric Disorders v0.8 VIPAS39 Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 for gene: VIPAS39
Severe Paediatric Disorders v0.8 TPK1 Louise Daugherty Added phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 for gene: TPK1
Severe Paediatric Disorders v0.8 SLC25A19 Louise Daugherty Added phenotypes Microcephaly, Amish type, 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 for gene: SLC25A19
Severe Paediatric Disorders v0.8 SLC19A3 Louise Daugherty Added phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 for gene: SLC19A3
Severe Paediatric Disorders v0.8 SFTPB Louise Daugherty Added phenotypes Surfactant metabolism dysfunction, pulmonary, 1, 265120 for gene: SFTPB
Severe Paediatric Disorders v0.8 PMPCB Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 6, 617954 for gene: PMPCB
Severe Paediatric Disorders v0.8 PLA2G4A Louise Daugherty Added phenotypes Gastrointestinal ulceration, recurrent, with dysfunctional platelets, 618372 for gene: PLA2G4A
Severe Paediatric Disorders v0.8 OTX2 Louise Daugherty Added phenotypes Pituitary hormone deficiency, combined, 6, 613986; Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125; Microphthalmia, syndromic 5, 610125 for gene: OTX2
Severe Paediatric Disorders v0.8 NFU1 Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 1, 605711 for gene: NFU1
Severe Paediatric Disorders v0.8 NFASC Louise Daugherty Added phenotypes Neurodevelopmental disorder with central and peripheral motor dysfunction, 618356 for gene: NFASC
Severe Paediatric Disorders v0.8 ISCA2 Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 4, 616370 for gene: ISCA2
Severe Paediatric Disorders v0.8 ISCA1 Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 5, 617613 for gene: ISCA1
Severe Paediatric Disorders v0.8 IBA57 Louise Daugherty Added phenotypes ?Spastic paraplegia 74, autosomal recessive, 616451; Multiple mitochondrial dysfunctions syndrome 3, 615330 for gene: IBA57
Severe Paediatric Disorders v0.8 FGG Louise Daugherty Added phenotypes Hypofibrinogenemia, congenital, 202400; Dysfibrinogenemia, congenital, 616004; Hypodysfibrinogenemia, 616004; Afibrinogenemia, congenital, 202400 for gene: FGG
Severe Paediatric Disorders v0.8 FGB Louise Daugherty Added phenotypes Hypofibrinogenemia, congenital, 202400; Dysfibrinogenemia, congenital, 616004; Afibrinogenemia, congenital, 202400 for gene: FGB
Severe Paediatric Disorders v0.8 FGA Louise Daugherty Added phenotypes Dysfibrinogenemia, congenital, 616004; Hypodysfibrinogenemia, congenital, 616004; Amyloidosis, familial visceral, 105200; Afibrinogenemia, congenital, 202400 for gene: FGA
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 DYSF Louise Daugherty Added phenotypes Miyoshi muscular dystrophy 1, 254130; Muscular dystrophy, limb-girdle, autosomal recessive 2, 253601; Myopathy, distal, with anterior tibial onset, 606768 for gene: DYSF
Severe Paediatric Disorders v0.8 CSF2RB Louise Daugherty Added phenotypes Surfactant metabolism dysfunction, pulmonary, 5, 614370 for gene: CSF2RB
Severe Paediatric Disorders v0.8 CSF2RA Louise Daugherty Added phenotypes Surfactant metabolism dysfunction, pulmonary, 4, 300770 for gene: CSF2RA
Severe Paediatric Disorders v0.8 CACNA1D Louise Daugherty Added phenotypes Primary aldosteronism, seizures, and neurologic abnormalities, 615474; Sinoatrial node dysfunction and deafness, 614896 for gene: CACNA1D
Severe Paediatric Disorders v0.8 BSND Louise Daugherty Added phenotypes Sensorineural deafness with mild renal dysfunction, 602522; Bartter syndrome, type 4a, 602522 for gene: BSND
Severe Paediatric Disorders v0.8 BOLA3 Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, 614299 for gene: BOLA3
Severe Paediatric Disorders v0.8 ACTA2 Louise Daugherty Added phenotypes Aortic aneurysm, familial thoracic 6, 611788; Moyamoya disease 5, 614042; Multisystemic smooth muscle dysfunction syndrome, 613834 for gene: ACTA2
Severe Paediatric Disorders v0.8 ABCA3 Louise Daugherty Added phenotypes Surfactant metabolism dysfunction, pulmonary, 3, 610921 for gene: ABCA3
Severe Paediatric Disorders v0.8 XRCC4 Louise Daugherty Mode of inheritance for gene XRCC4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Short stature, microcephaly, and endocrine dysfunction, 616541 for gene: XRCC4
Severe Paediatric Disorders v0.8 VPS33B Louise Daugherty Mode of inheritance for gene VPS33B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 for gene: VPS33B
Severe Paediatric Disorders v0.8 VIPAS39 Louise Daugherty Mode of inheritance for gene VIPAS39 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 for gene: VIPAS39
Severe Paediatric Disorders v0.8 TPK1 Louise Daugherty Mode of inheritance for gene TPK1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 for gene: TPK1
Severe Paediatric Disorders v0.8 SLC25A19 Louise Daugherty Mode of inheritance for gene SLC25A19 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Microcephaly, Amish type, 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 for gene: SLC25A19
Severe Paediatric Disorders v0.8 SLC19A3 Louise Daugherty Mode of inheritance for gene SLC19A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 for gene: SLC19A3
Severe Paediatric Disorders v0.8 SFTPB Louise Daugherty Mode of inheritance for gene SFTPB was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Surfactant metabolism dysfunction, pulmonary, 1, 265120 for gene: SFTPB
Severe Paediatric Disorders v0.7 DYSF Louise Daugherty Source Next Generation Children Project was added to DYSF.
Severe Paediatric Disorders v0.5 DYSF Louise Daugherty Source Expert Review Green was added to DYSF.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 DYSF Louise Daugherty gene: DYSF was added
gene: DYSF was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: DYSF was set to