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Severe Paediatric Disorders v1.174 SLC12A3 Achchuthan Shanmugasundram Tag monogenic - polygenic was removed from gene: SLC12A3.
Tag monogenic-polygenic tag was added to gene: SLC12A3.
Severe Paediatric Disorders v1.171 SLC12A3 Sarah Leigh Tag monogenic-polygenic was removed from gene: SLC12A3.
Tag monogenic - polygenic tag was added to gene: SLC12A3.
Severe Paediatric Disorders v1.170 SLC12A3 Sarah Leigh Tag monogenic-polygenic tag was added to gene: SLC12A3.
Severe Paediatric Disorders v1.170 SLC12A1 Sarah Leigh Tag monogenic-polygenic tag was added to gene: SLC12A1.
Severe Paediatric Disorders v1.42 KIF14 Arina Puzriakova Phenotypes for gene: KIF14 were changed from Microcephaly 20, primary, autosomal recessive, 617914; ?Meckel syndrome 12, 616258 to Microcephaly 20, primary, autosomal recessive, OMIM:617914; Microcephaly 20, primary, autosomal recessive, MONDO:0054761; Meckel syndrome 12, OMIM:616258; Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552
Severe Paediatric Disorders v0.12 NOG Louise Daugherty reviewed gene: NOG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 NOG Louise Daugherty Publications for gene NOG were updated from to 30847515
Severe Paediatric Disorders v0.11 NOG Louise Daugherty Mode of inheritance for gene NOG was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.10 TPO Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 2A, 274500 for gene: TPO
Severe Paediatric Disorders v0.10 TNFRSF13B Louise Daugherty Added phenotypes Immunoglobulin A deficiency 2, 609529; Immunodeficiency, common variable, 2, 240500 for gene: TNFRSF13B
Severe Paediatric Disorders v0.10 TG Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 3, 274700 for gene: TG
Severe Paediatric Disorders v0.10 SLC6A20 Louise Daugherty Added phenotypes Iminoglycinuria, digenic, 242600; Hyperglycinuria, 138500 for gene: SLC6A20
Severe Paediatric Disorders v0.10 SLC6A19 Louise Daugherty Added phenotypes Iminoglycinuria, digenic, 242600; Hyperglycinuria, 138500; Hartnup disorder, 234500 for gene: SLC6A19
Severe Paediatric Disorders v0.10 SLC5A5 Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 1, 274400 for gene: SLC5A5
Severe Paediatric Disorders v0.10 SERPINE1 Louise Daugherty Added phenotypes Plasminogen activator inhibitor-1 deficiency, 613329 for gene: SERPINE1
Severe Paediatric Disorders v0.10 PLG Louise Daugherty Added phenotypes Plasminogen deficiency, type I, 217090; Dysplasminogenemia, 217090 for gene: PLG
Severe Paediatric Disorders v0.10 NOG Louise Daugherty Added phenotypes Tarsal-carpal coalition syndrome, 186570; Symphalangism, proximal, 1A, 185800; Brachydactyly, type B2, 611377; Stapes ankylosis with broad thumbs and toes, 184460; Multiple synostoses syndrome 1, 186500 for gene: NOG
Severe Paediatric Disorders v0.10 MT-RNR1 Louise Daugherty Added phenotypes DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; CARDIOMYOPATHY, RESTRICTIVE; DEAFNESS, AMINOGLYCOSIDE-INDUCED; AUDITORY NEUROPATHY for gene: MT-RNR1
Severe Paediatric Disorders v0.10 KNG1 Louise Daugherty Added phenotypes Kininogen deficiency, 228960 for gene: KNG1
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 DUOX2 Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 6, 607200 for gene: DUOX2
Severe Paediatric Disorders v0.10 DSPP Louise Daugherty Added phenotypes Dentinogenesis imperfecta, Shields type II, 125490; Dentinogenesis imperfecta, Shields type III, 125500; Deafness, autosomal dominant 39, with dentinogenesis, 605594; Dentin dysplasia, type II, 125420 for gene: DSPP
Severe Paediatric Disorders v0.9 TPO Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 2A, 274500 for gene: TPO
Severe Paediatric Disorders v0.9 TNFRSF13B Louise Daugherty Added phenotypes Immunoglobulin A deficiency 2, 609529; Immunodeficiency, common variable, 2, 240500 for gene: TNFRSF13B
Severe Paediatric Disorders v0.9 TG Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 3, 274700 for gene: TG
Severe Paediatric Disorders v0.9 SLC6A20 Louise Daugherty Added phenotypes Iminoglycinuria, digenic, 242600; Hyperglycinuria, 138500 for gene: SLC6A20
Severe Paediatric Disorders v0.9 SLC6A19 Louise Daugherty Added phenotypes Iminoglycinuria, digenic, 242600; Hyperglycinuria, 138500; Hartnup disorder, 234500 for gene: SLC6A19
Severe Paediatric Disorders v0.9 SLC5A5 Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 1, 274400 for gene: SLC5A5
Severe Paediatric Disorders v0.9 SERPINE1 Louise Daugherty Added phenotypes Plasminogen activator inhibitor-1 deficiency, 613329 for gene: SERPINE1
Severe Paediatric Disorders v0.9 PLG Louise Daugherty Added phenotypes Plasminogen deficiency, type I, 217090; Dysplasminogenemia, 217090 for gene: PLG
Severe Paediatric Disorders v0.9 NOG Louise Daugherty Added phenotypes Tarsal-carpal coalition syndrome, 186570; Symphalangism, proximal, 1A, 185800; Brachydactyly, type B2, 611377; Stapes ankylosis with broad thumbs and toes, 184460; Multiple synostoses syndrome 1, 186500 for gene: NOG
Severe Paediatric Disorders v0.9 MT-RNR1 Louise Daugherty Added phenotypes DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; CARDIOMYOPATHY, RESTRICTIVE; DEAFNESS, AMINOGLYCOSIDE-INDUCED; AUDITORY NEUROPATHY for gene: MT-RNR1
Severe Paediatric Disorders v0.9 KNG1 Louise Daugherty Added phenotypes Kininogen deficiency, 228960 for gene: KNG1
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 DUOX2 Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 6, 607200 for gene: DUOX2
Severe Paediatric Disorders v0.9 DSPP Louise Daugherty Added phenotypes Dentinogenesis imperfecta, Shields type II, 125490; Dentinogenesis imperfecta, Shields type III, 125500; Deafness, autosomal dominant 39, with dentinogenesis, 605594; Dentin dysplasia, type II, 125420 for gene: DSPP
Severe Paediatric Disorders v0.9 TPO Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 2A, 274500 for gene: TPO
Severe Paediatric Disorders v0.9 TNFRSF13B Louise Daugherty Added phenotypes Immunoglobulin A deficiency 2, 609529; Immunodeficiency, common variable, 2, 240500 for gene: TNFRSF13B
Severe Paediatric Disorders v0.9 TG Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 3, 274700 for gene: TG
Severe Paediatric Disorders v0.9 SLC6A20 Louise Daugherty Added phenotypes Iminoglycinuria, digenic, 242600; Hyperglycinuria, 138500 for gene: SLC6A20
Severe Paediatric Disorders v0.9 SLC6A19 Louise Daugherty Added phenotypes Iminoglycinuria, digenic, 242600; Hyperglycinuria, 138500; Hartnup disorder, 234500 for gene: SLC6A19
Severe Paediatric Disorders v0.9 SLC5A5 Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 1, 274400 for gene: SLC5A5
Severe Paediatric Disorders v0.9 SERPINE1 Louise Daugherty Added phenotypes Plasminogen activator inhibitor-1 deficiency, 613329 for gene: SERPINE1
Severe Paediatric Disorders v0.9 PLG Louise Daugherty Added phenotypes Plasminogen deficiency, type I, 217090; Dysplasminogenemia, 217090 for gene: PLG
Severe Paediatric Disorders v0.9 NOG Louise Daugherty Added phenotypes Tarsal-carpal coalition syndrome, 186570; Symphalangism, proximal, 1A, 185800; Brachydactyly, type B2, 611377; Stapes ankylosis with broad thumbs and toes, 184460; Multiple synostoses syndrome 1, 186500 for gene: NOG
Severe Paediatric Disorders v0.9 MT-RNR1 Louise Daugherty Added phenotypes DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; CARDIOMYOPATHY, RESTRICTIVE; DEAFNESS, AMINOGLYCOSIDE-INDUCED; AUDITORY NEUROPATHY for gene: MT-RNR1
Severe Paediatric Disorders v0.9 KNG1 Louise Daugherty Added phenotypes Kininogen deficiency, 228960 for gene: KNG1
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 DUOX2 Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 6, 607200 for gene: DUOX2
Severe Paediatric Disorders v0.9 DSPP Louise Daugherty Added phenotypes Dentinogenesis imperfecta, Shields type II, 125490; Dentinogenesis imperfecta, Shields type III, 125500; Deafness, autosomal dominant 39, with dentinogenesis, 605594; Dentin dysplasia, type II, 125420 for gene: DSPP
Severe Paediatric Disorders v0.8 TPO Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 2A, 274500 for gene: TPO
Severe Paediatric Disorders v0.8 TNFRSF13B Louise Daugherty Added phenotypes Immunodeficiency, common variable, 2, 240500; Immunoglobulin A deficiency 2, 609529 for gene: TNFRSF13B
Severe Paediatric Disorders v0.8 TG Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 3, 274700 for gene: TG
Severe Paediatric Disorders v0.8 SLC6A20 Louise Daugherty Added phenotypes Hyperglycinuria, 138500; Iminoglycinuria, digenic, 242600 for gene: SLC6A20
Severe Paediatric Disorders v0.8 SLC6A19 Louise Daugherty Added phenotypes Hyperglycinuria, 138500; Iminoglycinuria, digenic, 242600; Hartnup disorder, 234500 for gene: SLC6A19
Severe Paediatric Disorders v0.8 SLC5A5 Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 1, 274400 for gene: SLC5A5
Severe Paediatric Disorders v0.8 SERPINE1 Louise Daugherty Added phenotypes Plasminogen activator inhibitor-1 deficiency, 613329 for gene: SERPINE1
Severe Paediatric Disorders v0.8 PLG Louise Daugherty Added phenotypes Plasminogen deficiency, type I, 217090; Dysplasminogenemia, 217090 for gene: PLG
Severe Paediatric Disorders v0.8 NOG Louise Daugherty Added phenotypes Symphalangism, proximal, 1A, 185800; Stapes ankylosis with broad thumbs and toes, 184460; Multiple synostoses syndrome 1, 186500; Tarsal-carpal coalition syndrome, 186570; Brachydactyly, type B2, 611377 for gene: NOG
Severe Paediatric Disorders v0.8 MT-RNR1 Louise Daugherty Added phenotypes CARDIOMYOPATHY, RESTRICTIVE; DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; AUDITORY NEUROPATHY; DEAFNESS, AMINOGLYCOSIDE-INDUCED for gene: MT-RNR1
Severe Paediatric Disorders v0.8 KNG1 Louise Daugherty Added phenotypes Kininogen deficiency, 228960 for gene: KNG1
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 DUOX2 Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 6, 607200 for gene: DUOX2
Severe Paediatric Disorders v0.8 DSPP Louise Daugherty Added phenotypes Dentin dysplasia, type II, 125420; Deafness, autosomal dominant 39, with dentinogenesis, 605594; Dentinogenesis imperfecta, Shields type II, 125490; Dentinogenesis imperfecta, Shields type III, 125500 for gene: DSPP
Severe Paediatric Disorders v0.8 TPO Louise Daugherty Mode of inheritance for gene TPO was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Thyroid dyshormonogenesis 2A, 274500 for gene: TPO
Severe Paediatric Disorders v0.8 TNFRSF13B Louise Daugherty Mode of inheritance for gene TNFRSF13B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Immunoglobulin A deficiency 2, 609529; Immunodeficiency, common variable, 2, 240500 for gene: TNFRSF13B
Severe Paediatric Disorders v0.8 TG Louise Daugherty Mode of inheritance for gene TG was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Thyroid dyshormonogenesis 3, 274700 for gene: TG
Severe Paediatric Disorders v0.8 SLC6A20 Louise Daugherty Mode of inheritance for gene SLC6A20 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Iminoglycinuria, digenic, 242600; Hyperglycinuria, 138500 for gene: SLC6A20
Severe Paediatric Disorders v0.8 SLC6A19 Louise Daugherty Mode of inheritance for gene SLC6A19 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Iminoglycinuria, digenic, 242600; Hyperglycinuria, 138500; Hartnup disorder, 234500 for gene: SLC6A19
Severe Paediatric Disorders v0.8 SLC5A5 Louise Daugherty Mode of inheritance for gene SLC5A5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Thyroid dyshormonogenesis 1, 274400 for gene: SLC5A5
Severe Paediatric Disorders v0.8 SERPINE1 Louise Daugherty Mode of inheritance for gene SERPINE1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Plasminogen activator inhibitor-1 deficiency, 613329 for gene: SERPINE1
Severe Paediatric Disorders v0.7 NOG Louise Daugherty Source Next Generation Children Project was added to NOG.
Severe Paediatric Disorders v0.5 NOG Louise Daugherty Source Expert Review Green was added to NOG.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 NOG Louise Daugherty gene: NOG was added
gene: NOG was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: NOG was set to