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Severe Paediatric Disorders v1.180 CNBP_CCTG Sarah Leigh Tag NGS Not Validated was removed from STR: CNBP_CCTG.
Severe Paediatric Disorders v1.180 CNBP_CCTG Sarah Leigh Classified STR: CNBP_CCTG as Green List (high evidence)
Severe Paediatric Disorders v1.180 CNBP_CCTG Sarah Leigh Str: cnbp_cctg has been classified as Green List (High Evidence).
Severe Paediatric Disorders v1.179 CNBP_CCTG Sarah Leigh reviewed STR: CNBP_CCTG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Severe Paediatric Disorders v1.179 CNBP_CCTG Sarah Leigh STR: CNBP_CCTG was added
STR: CNBP_CCTG was added to Severe Paediatric Disorders. Sources: Expert list,NHS GMS,Expert Review Red
STR, NGS Not Validated tags were added to STR: CNBP_CCTG.
Mode of inheritance for STR: CNBP_CCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: CNBP_CCTG were set to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266
Severe Paediatric Disorders v1.86 DMPK Arina Puzriakova changed review comment from: Comment on list classification: Demoted from Green to Red due to the disease-causing mechanism - genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene. Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1.; to: Comment on list classification: Genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene. Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1. Should be demoted to Red due to disease mechanism however as this is a research panel based on a publication the Green rating will be maintained.
Severe Paediatric Disorders v1.81 DMPK Arina Puzriakova Added comment: Comment on list classification: Demoted from Green to Red due to the disease-causing mechanism - genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene. Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1.
Severe Paediatric Disorders v0.17 ITGB4 Louise Daugherty Mode of inheritance for gene ITGB4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ITGB3 Louise Daugherty Mode of inheritance for gene ITGB3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ITGB2 Louise Daugherty Mode of inheritance for gene ITGB2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ITGA8 Louise Daugherty Mode of inheritance for gene ITGA8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ITGA7 Louise Daugherty Mode of inheritance for gene ITGA7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ITGA6 Louise Daugherty Mode of inheritance for gene ITGA6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ITGA3 Louise Daugherty Mode of inheritance for gene ITGA3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ITGA2B Louise Daugherty Mode of inheritance for gene ITGA2B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GNPTG Louise Daugherty Mode of inheritance for gene GNPTG was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ACTG2 Louise Daugherty Mode of inheritance for gene ACTG2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 ACTG1 Louise Daugherty Mode of inheritance for gene ACTG1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.12 ITGAM Louise Daugherty reviewed gene: ITGAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ATG16L1 Louise Daugherty reviewed gene: ATG16L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TGM6 Louise Daugherty reviewed gene: TGM6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TGM5 Louise Daugherty reviewed gene: TGM5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TGM1 Louise Daugherty reviewed gene: TGM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TGIF1 Louise Daugherty reviewed gene: TGIF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TGFBR2 Louise Daugherty reviewed gene: TGFBR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TGFBR1 Louise Daugherty reviewed gene: TGFBR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TGFB3 Louise Daugherty reviewed gene: TGFB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TGFB2 Louise Daugherty reviewed gene: TGFB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TGFB1 Louise Daugherty reviewed gene: TGFB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TGDS Louise Daugherty reviewed gene: TGDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TG Louise Daugherty reviewed gene: TG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MT-TG Louise Daugherty reviewed gene: MT-TG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ITGB4 Louise Daugherty reviewed gene: ITGB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ITGB3 Louise Daugherty reviewed gene: ITGB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ITGB2 Louise Daugherty reviewed gene: ITGB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ITGA8 Louise Daugherty reviewed gene: ITGA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ITGA7 Louise Daugherty reviewed gene: ITGA7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ITGA6 Louise Daugherty reviewed gene: ITGA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ITGA3 Louise Daugherty reviewed gene: ITGA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ITGA2B Louise Daugherty reviewed gene: ITGA2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GNPTG Louise Daugherty reviewed gene: GNPTG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACTG2 Louise Daugherty reviewed gene: ACTG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACTG1 Louise Daugherty reviewed gene: ACTG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 ITGAM Louise Daugherty Publications for gene ITGAM were updated from to 30847515
Severe Paediatric Disorders v0.11 ATG16L1 Louise Daugherty Publications for gene ATG16L1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TGM6 Louise Daugherty Publications for gene TGM6 were updated from to 30847515
Severe Paediatric Disorders v0.11 TGM5 Louise Daugherty Publications for gene TGM5 were updated from to 30847515
Severe Paediatric Disorders v0.11 TGM1 Louise Daugherty Publications for gene TGM1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TGIF1 Louise Daugherty Publications for gene TGIF1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TGFBR2 Louise Daugherty Publications for gene TGFBR2 were updated from to 30847515
Severe Paediatric Disorders v0.11 TGFBR1 Louise Daugherty Publications for gene TGFBR1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TGFB3 Louise Daugherty Publications for gene TGFB3 were updated from to 30847515
Severe Paediatric Disorders v0.11 TGFB2 Louise Daugherty Publications for gene TGFB2 were updated from to 30847515
Severe Paediatric Disorders v0.11 TGFB1 Louise Daugherty Publications for gene TGFB1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TGDS Louise Daugherty Publications for gene TGDS were updated from to 30847515
Severe Paediatric Disorders v0.11 TG Louise Daugherty Publications for gene TG were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-TG Louise Daugherty Publications for gene MT-TG were updated from to 30847515
Severe Paediatric Disorders v0.11 ITGB4 Louise Daugherty Publications for gene ITGB4 were updated from to 30847515
Severe Paediatric Disorders v0.11 ITGB3 Louise Daugherty Publications for gene ITGB3 were updated from to 30847515
Severe Paediatric Disorders v0.11 ITGB2 Louise Daugherty Publications for gene ITGB2 were updated from to 30847515
Severe Paediatric Disorders v0.11 ITGA8 Louise Daugherty Publications for gene ITGA8 were updated from to 30847515
Severe Paediatric Disorders v0.11 ITGA7 Louise Daugherty Publications for gene ITGA7 were updated from to 30847515
Severe Paediatric Disorders v0.11 ITGA6 Louise Daugherty Publications for gene ITGA6 were updated from to 30847515
Severe Paediatric Disorders v0.11 ITGA3 Louise Daugherty Publications for gene ITGA3 were updated from to 30847515
Severe Paediatric Disorders v0.11 ITGA2B Louise Daugherty Publications for gene ITGA2B were updated from to 30847515
Severe Paediatric Disorders v0.11 GNPTG Louise Daugherty Publications for gene GNPTG were updated from to 30847515
Severe Paediatric Disorders v0.11 ACTG2 Louise Daugherty Publications for gene ACTG2 were updated from to 30847515
Severe Paediatric Disorders v0.11 ACTG1 Louise Daugherty Publications for gene ACTG1 were updated from to 30847515
Severe Paediatric Disorders v0.10 ITGAM Louise Daugherty Added phenotypes AutoAb Chronic Mucocutaneous Candidiasis. for gene: ITGAM
Severe Paediatric Disorders v0.10 TGM6 Louise Daugherty Added phenotypes Spinocerebellar ataxia 35, 613908 for gene: TGM6
Severe Paediatric Disorders v0.10 TGM5 Louise Daugherty Added phenotypes Peeling skin syndrome 2, 609796 for gene: TGM5
Severe Paediatric Disorders v0.10 TGM1 Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 1, 242300 for gene: TGM1
Severe Paediatric Disorders v0.10 TGIF1 Louise Daugherty Added phenotypes Holoprosencephaly 4, 142946 for gene: TGIF1
Severe Paediatric Disorders v0.10 TGFBR2 Louise Daugherty Added phenotypes Loeys-Dietz syndrome 2, 610168 for gene: TGFBR2
Severe Paediatric Disorders v0.10 TGFBR1 Louise Daugherty Added phenotypes Loeys-Dietz syndrome 1, 609192 for gene: TGFBR1
Severe Paediatric Disorders v0.10 TGFB3 Louise Daugherty Added phenotypes Loeys-Dietz syndrome 5, 615582; Arrhythmogenic right ventricular dysplasia 1, 107970 for gene: TGFB3
Severe Paediatric Disorders v0.10 TGFB2 Louise Daugherty Added phenotypes Loeys-Dietz syndrome 4, 614816 for gene: TGFB2
Severe Paediatric Disorders v0.10 TGFB1 Louise Daugherty Added phenotypes Camurati-Engelmann disease, 131300; Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213 for gene: TGFB1
Severe Paediatric Disorders v0.10 TGDS Louise Daugherty Added phenotypes Catel-Manzke syndrome, 616145 for gene: TGDS
Severe Paediatric Disorders v0.10 TG Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 3, 274700 for gene: TG
Severe Paediatric Disorders v0.10 MT-TG Louise Daugherty Added phenotypes EXERCISE INTOLERANCE; CARDIOMYOPATHY, HYPERTROPHIC; SUDDEN DEATH for gene: MT-TG
Severe Paediatric Disorders v0.10 ITGB4 Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, with pyloric atresia, 226730; Epidermolysis bullosa of hands and feet, 131800; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 for gene: ITGB4
Severe Paediatric Disorders v0.10 ITGB3 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Thrombocytopenia, neonatal alloimmune; Purpura, posttransfusion; Glanzmann thrombasthenia, 273800 for gene: ITGB3
Severe Paediatric Disorders v0.10 ITGB2 Louise Daugherty Added phenotypes Leukocyte adhesion deficiency, 116920 for gene: ITGB2
Severe Paediatric Disorders v0.10 ITGA8 Louise Daugherty Added phenotypes Renal hypodysplasia/aplasia 1, 191830 for gene: ITGA8
Severe Paediatric Disorders v0.10 ITGA7 Louise Daugherty Added phenotypes Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 for gene: ITGA7
Severe Paediatric Disorders v0.10 ITGA6 Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 for gene: ITGA6
Severe Paediatric Disorders v0.10 ITGA3 Louise Daugherty Added phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 for gene: ITGA3
Severe Paediatric Disorders v0.10 ITGA2B Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Thrombocytopenia, neonatal alloimmune, BAK antigen related; Glanzmann thrombasthenia, 273800 for gene: ITGA2B
Severe Paediatric Disorders v0.10 GNPTG Louise Daugherty Added phenotypes Mucolipidosis III gamma, 252605 for gene: GNPTG
Severe Paediatric Disorders v0.10 ACTG2 Louise Daugherty Added phenotypes Visceral myopathy, 155310 for gene: ACTG2
Severe Paediatric Disorders v0.10 ACTG1 Louise Daugherty Added phenotypes Baraitser-Winter syndrome 2, 614583; Deafness, autosomal dominant 20/26, 604717 for gene: ACTG1
Severe Paediatric Disorders v0.9 ITGAM Louise Daugherty Added phenotypes AutoAb Chronic Mucocutaneous Candidiasis. for gene: ITGAM
Severe Paediatric Disorders v0.9 TGM6 Louise Daugherty Added phenotypes Spinocerebellar ataxia 35, 613908 for gene: TGM6
Severe Paediatric Disorders v0.9 TGM5 Louise Daugherty Added phenotypes Peeling skin syndrome 2, 609796 for gene: TGM5
Severe Paediatric Disorders v0.9 TGM1 Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 1, 242300 for gene: TGM1
Severe Paediatric Disorders v0.9 TGIF1 Louise Daugherty Added phenotypes Holoprosencephaly 4, 142946 for gene: TGIF1
Severe Paediatric Disorders v0.9 TGFBR2 Louise Daugherty Added phenotypes Loeys-Dietz syndrome 2, 610168 for gene: TGFBR2
Severe Paediatric Disorders v0.9 TGFBR1 Louise Daugherty Added phenotypes Loeys-Dietz syndrome 1, 609192 for gene: TGFBR1
Severe Paediatric Disorders v0.9 TGFB3 Louise Daugherty Added phenotypes Loeys-Dietz syndrome 5, 615582; Arrhythmogenic right ventricular dysplasia 1, 107970 for gene: TGFB3
Severe Paediatric Disorders v0.9 TGFB2 Louise Daugherty Added phenotypes Loeys-Dietz syndrome 4, 614816 for gene: TGFB2
Severe Paediatric Disorders v0.9 TGFB1 Louise Daugherty Added phenotypes Camurati-Engelmann disease, 131300; Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213 for gene: TGFB1
Severe Paediatric Disorders v0.9 TGDS Louise Daugherty Added phenotypes Catel-Manzke syndrome, 616145 for gene: TGDS
Severe Paediatric Disorders v0.9 TG Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 3, 274700 for gene: TG
Severe Paediatric Disorders v0.9 MT-TG Louise Daugherty Added phenotypes EXERCISE INTOLERANCE; CARDIOMYOPATHY, HYPERTROPHIC; SUDDEN DEATH for gene: MT-TG
Severe Paediatric Disorders v0.9 ITGB4 Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, with pyloric atresia, 226730; Epidermolysis bullosa of hands and feet, 131800; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 for gene: ITGB4
Severe Paediatric Disorders v0.9 ITGB3 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Thrombocytopenia, neonatal alloimmune; Purpura, posttransfusion; Glanzmann thrombasthenia, 273800 for gene: ITGB3
Severe Paediatric Disorders v0.9 ITGB2 Louise Daugherty Added phenotypes Leukocyte adhesion deficiency, 116920 for gene: ITGB2
Severe Paediatric Disorders v0.9 ITGA8 Louise Daugherty Added phenotypes Renal hypodysplasia/aplasia 1, 191830 for gene: ITGA8
Severe Paediatric Disorders v0.9 ITGA7 Louise Daugherty Added phenotypes Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 for gene: ITGA7
Severe Paediatric Disorders v0.9 ITGA6 Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 for gene: ITGA6
Severe Paediatric Disorders v0.9 ITGA3 Louise Daugherty Added phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 for gene: ITGA3
Severe Paediatric Disorders v0.9 ITGA2B Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Thrombocytopenia, neonatal alloimmune, BAK antigen related; Glanzmann thrombasthenia, 273800 for gene: ITGA2B
Severe Paediatric Disorders v0.9 GNPTG Louise Daugherty Added phenotypes Mucolipidosis III gamma, 252605 for gene: GNPTG
Severe Paediatric Disorders v0.9 ACTG2 Louise Daugherty Added phenotypes Visceral myopathy, 155310 for gene: ACTG2
Severe Paediatric Disorders v0.9 ACTG1 Louise Daugherty Added phenotypes Baraitser-Winter syndrome 2, 614583; Deafness, autosomal dominant 20/26, 604717 for gene: ACTG1
Severe Paediatric Disorders v0.9 ITGAM Louise Daugherty Added phenotypes AutoAb Chronic Mucocutaneous Candidiasis. for gene: ITGAM
Severe Paediatric Disorders v0.9 TGM6 Louise Daugherty Added phenotypes Spinocerebellar ataxia 35, 613908 for gene: TGM6
Severe Paediatric Disorders v0.9 TGM5 Louise Daugherty Added phenotypes Peeling skin syndrome 2, 609796 for gene: TGM5
Severe Paediatric Disorders v0.9 TGM1 Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 1, 242300 for gene: TGM1
Severe Paediatric Disorders v0.9 TGIF1 Louise Daugherty Added phenotypes Holoprosencephaly 4, 142946 for gene: TGIF1
Severe Paediatric Disorders v0.9 TGFBR2 Louise Daugherty Added phenotypes Loeys-Dietz syndrome 2, 610168 for gene: TGFBR2
Severe Paediatric Disorders v0.9 TGFBR1 Louise Daugherty Added phenotypes Loeys-Dietz syndrome 1, 609192 for gene: TGFBR1
Severe Paediatric Disorders v0.9 TGFB3 Louise Daugherty Added phenotypes Loeys-Dietz syndrome 5, 615582; Arrhythmogenic right ventricular dysplasia 1, 107970 for gene: TGFB3
Severe Paediatric Disorders v0.9 TGFB2 Louise Daugherty Added phenotypes Loeys-Dietz syndrome 4, 614816 for gene: TGFB2
Severe Paediatric Disorders v0.9 TGFB1 Louise Daugherty Added phenotypes Camurati-Engelmann disease, 131300; Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213 for gene: TGFB1
Severe Paediatric Disorders v0.9 TGDS Louise Daugherty Added phenotypes Catel-Manzke syndrome, 616145 for gene: TGDS
Severe Paediatric Disorders v0.9 TG Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 3, 274700 for gene: TG
Severe Paediatric Disorders v0.9 MT-TG Louise Daugherty Added phenotypes EXERCISE INTOLERANCE; CARDIOMYOPATHY, HYPERTROPHIC; SUDDEN DEATH for gene: MT-TG
Severe Paediatric Disorders v0.9 ITGB4 Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, with pyloric atresia, 226730; Epidermolysis bullosa of hands and feet, 131800; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 for gene: ITGB4
Severe Paediatric Disorders v0.9 ITGB3 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Thrombocytopenia, neonatal alloimmune; Purpura, posttransfusion; Glanzmann thrombasthenia, 273800 for gene: ITGB3
Severe Paediatric Disorders v0.9 ITGB2 Louise Daugherty Added phenotypes Leukocyte adhesion deficiency, 116920 for gene: ITGB2
Severe Paediatric Disorders v0.9 ITGA8 Louise Daugherty Added phenotypes Renal hypodysplasia/aplasia 1, 191830 for gene: ITGA8
Severe Paediatric Disorders v0.9 ITGA7 Louise Daugherty Added phenotypes Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 for gene: ITGA7
Severe Paediatric Disorders v0.9 ITGA6 Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 for gene: ITGA6
Severe Paediatric Disorders v0.9 ITGA3 Louise Daugherty Added phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 for gene: ITGA3
Severe Paediatric Disorders v0.9 ITGA2B Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Thrombocytopenia, neonatal alloimmune, BAK antigen related; Glanzmann thrombasthenia, 273800 for gene: ITGA2B
Severe Paediatric Disorders v0.9 GNPTG Louise Daugherty Added phenotypes Mucolipidosis III gamma, 252605 for gene: GNPTG
Severe Paediatric Disorders v0.9 ACTG2 Louise Daugherty Added phenotypes Visceral myopathy, 155310 for gene: ACTG2
Severe Paediatric Disorders v0.9 ACTG1 Louise Daugherty Added phenotypes Baraitser-Winter syndrome 2, 614583; Deafness, autosomal dominant 20/26, 604717 for gene: ACTG1
Severe Paediatric Disorders v0.8 ITGAM Louise Daugherty Added phenotypes AutoAb Chronic Mucocutaneous Candidiasis. for gene: ITGAM
Severe Paediatric Disorders v0.8 TGM6 Louise Daugherty Added phenotypes Spinocerebellar ataxia 35, 613908 for gene: TGM6
Severe Paediatric Disorders v0.8 TGM5 Louise Daugherty Added phenotypes Peeling skin syndrome 2, 609796 for gene: TGM5
Severe Paediatric Disorders v0.8 TGM1 Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 1, 242300 for gene: TGM1
Severe Paediatric Disorders v0.8 TGIF1 Louise Daugherty Added phenotypes Holoprosencephaly 4, 142946 for gene: TGIF1
Severe Paediatric Disorders v0.8 TGFBR2 Louise Daugherty Added phenotypes Loeys-Dietz syndrome 2, 610168 for gene: TGFBR2
Severe Paediatric Disorders v0.8 TGFBR1 Louise Daugherty Added phenotypes Loeys-Dietz syndrome 1, 609192 for gene: TGFBR1
Severe Paediatric Disorders v0.8 TGFB3 Louise Daugherty Added phenotypes Arrhythmogenic right ventricular dysplasia 1, 107970; Loeys-Dietz syndrome 5, 615582 for gene: TGFB3
Severe Paediatric Disorders v0.8 TGFB2 Louise Daugherty Added phenotypes Loeys-Dietz syndrome 4, 614816 for gene: TGFB2
Severe Paediatric Disorders v0.8 TGFB1 Louise Daugherty Added phenotypes Camurati-Engelmann disease, 131300; Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213 for gene: TGFB1
Severe Paediatric Disorders v0.8 TGDS Louise Daugherty Added phenotypes Catel-Manzke syndrome, 616145 for gene: TGDS
Severe Paediatric Disorders v0.8 TG Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 3, 274700 for gene: TG
Severe Paediatric Disorders v0.8 MT-TG Louise Daugherty Added phenotypes SUDDEN DEATH; EXERCISE INTOLERANCE; CARDIOMYOPATHY, HYPERTROPHIC for gene: MT-TG
Severe Paediatric Disorders v0.8 ITGB4 Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, with pyloric atresia, 226730; Epidermolysis bullosa of hands and feet, 131800; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 for gene: ITGB4
Severe Paediatric Disorders v0.8 ITGB3 Louise Daugherty Added phenotypes Purpura, posttransfusion; Thrombocytopenia, neonatal alloimmune; Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Glanzmann thrombasthenia, 273800 for gene: ITGB3
Severe Paediatric Disorders v0.8 ITGB2 Louise Daugherty Added phenotypes Leukocyte adhesion deficiency, 116920 for gene: ITGB2
Severe Paediatric Disorders v0.8 ITGA8 Louise Daugherty Added phenotypes Renal hypodysplasia/aplasia 1, 191830 for gene: ITGA8
Severe Paediatric Disorders v0.8 ITGA7 Louise Daugherty Added phenotypes Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 for gene: ITGA7
Severe Paediatric Disorders v0.8 ITGA6 Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 for gene: ITGA6
Severe Paediatric Disorders v0.8 ITGA3 Louise Daugherty Added phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 for gene: ITGA3
Severe Paediatric Disorders v0.8 ITGA2B Louise Daugherty Added phenotypes Thrombocytopenia, neonatal alloimmune, BAK antigen related; Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Glanzmann thrombasthenia, 273800 for gene: ITGA2B
Severe Paediatric Disorders v0.8 GNPTG Louise Daugherty Added phenotypes Mucolipidosis III gamma, 252605 for gene: GNPTG
Severe Paediatric Disorders v0.8 ACTG2 Louise Daugherty Added phenotypes Visceral myopathy, 155310 for gene: ACTG2
Severe Paediatric Disorders v0.8 ACTG1 Louise Daugherty Added phenotypes Deafness, autosomal dominant 20/26, 604717; Baraitser-Winter syndrome 2, 614583 for gene: ACTG1
Severe Paediatric Disorders v0.8 ITGAM Louise Daugherty Mode of inheritance for gene ITGAM was changed from to Unknown
Added phenotypes AutoAb Chronic Mucocutaneous Candidiasis. for gene: ITGAM
Severe Paediatric Disorders v0.8 ATG16L1 Louise Daugherty Mode of inheritance for gene ATG16L1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.8 TGM6 Louise Daugherty Mode of inheritance for gene TGM6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Spinocerebellar ataxia 35, 613908 for gene: TGM6
Severe Paediatric Disorders v0.8 TGM5 Louise Daugherty Mode of inheritance for gene TGM5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peeling skin syndrome 2, 609796 for gene: TGM5
Severe Paediatric Disorders v0.8 TGM1 Louise Daugherty Mode of inheritance for gene TGM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ichthyosis, congenital, autosomal recessive 1, 242300 for gene: TGM1
Severe Paediatric Disorders v0.8 TGIF1 Louise Daugherty Mode of inheritance for gene TGIF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Holoprosencephaly 4, 142946 for gene: TGIF1
Severe Paediatric Disorders v0.8 TGFBR2 Louise Daugherty Mode of inheritance for gene TGFBR2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Loeys-Dietz syndrome 2, 610168 for gene: TGFBR2
Severe Paediatric Disorders v0.8 TGFBR1 Louise Daugherty Mode of inheritance for gene TGFBR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Loeys-Dietz syndrome 1, 609192 for gene: TGFBR1
Severe Paediatric Disorders v0.8 TGFB3 Louise Daugherty Mode of inheritance for gene TGFB3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Loeys-Dietz syndrome 5, 615582; Arrhythmogenic right ventricular dysplasia 1, 107970 for gene: TGFB3
Severe Paediatric Disorders v0.8 TGFB2 Louise Daugherty Mode of inheritance for gene TGFB2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Loeys-Dietz syndrome 4, 614816 for gene: TGFB2
Severe Paediatric Disorders v0.8 TGFB1 Louise Daugherty Mode of inheritance for gene TGFB1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Camurati-Engelmann disease, 131300; Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213 for gene: TGFB1
Severe Paediatric Disorders v0.8 TGDS Louise Daugherty Mode of inheritance for gene TGDS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Catel-Manzke syndrome, 616145 for gene: TGDS
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 v0.7 ITGAM Louise Daugherty Source Next Generation Children Project was added to ITGAM.
Severe Paediatric Disorders v0.7 ATG16L1 Louise Daugherty Source Next Generation Children Project was added to ATG16L1.
Severe Paediatric Disorders v0.7 TGM6 Louise Daugherty Source Next Generation Children Project was added to TGM6.
Severe Paediatric Disorders v0.7 TGM5 Louise Daugherty Source Next Generation Children Project was added to TGM5.
Severe Paediatric Disorders v0.7 TGM1 Louise Daugherty Source Next Generation Children Project was added to TGM1.
Severe Paediatric Disorders v0.7 TGIF1 Louise Daugherty Source Next Generation Children Project was added to TGIF1.
Severe Paediatric Disorders v0.7 TGFBR2 Louise Daugherty Source Next Generation Children Project was added to TGFBR2.
Severe Paediatric Disorders v0.7 TGFBR1 Louise Daugherty Source Next Generation Children Project was added to TGFBR1.
Severe Paediatric Disorders v0.7 TGFB3 Louise Daugherty Source Next Generation Children Project was added to TGFB3.
Severe Paediatric Disorders v0.7 TGFB2 Louise Daugherty Source Next Generation Children Project was added to TGFB2.
Severe Paediatric Disorders v0.7 TGFB1 Louise Daugherty Source Next Generation Children Project was added to TGFB1.
Severe Paediatric Disorders v0.7 TGDS Louise Daugherty Source Next Generation Children Project was added to TGDS.
Severe Paediatric Disorders v0.7 TG Louise Daugherty Source Next Generation Children Project was added to TG.
Severe Paediatric Disorders v0.7 MT-TG Louise Daugherty Source Next Generation Children Project was added to MT-TG.
Severe Paediatric Disorders v0.7 ITGB4 Louise Daugherty Source Next Generation Children Project was added to ITGB4.
Severe Paediatric Disorders v0.7 ITGB3 Louise Daugherty Source Next Generation Children Project was added to ITGB3.
Severe Paediatric Disorders v0.7 ITGB2 Louise Daugherty Source Next Generation Children Project was added to ITGB2.
Severe Paediatric Disorders v0.7 ITGA8 Louise Daugherty Source Next Generation Children Project was added to ITGA8.
Severe Paediatric Disorders v0.7 ITGA7 Louise Daugherty Source Next Generation Children Project was added to ITGA7.
Severe Paediatric Disorders v0.7 ITGA6 Louise Daugherty Source Next Generation Children Project was added to ITGA6.
Severe Paediatric Disorders v0.7 ITGA3 Louise Daugherty Source Next Generation Children Project was added to ITGA3.
Severe Paediatric Disorders v0.7 ITGA2B Louise Daugherty Source Next Generation Children Project was added to ITGA2B.
Severe Paediatric Disorders v0.7 GNPTG Louise Daugherty Source Next Generation Children Project was added to GNPTG.
Severe Paediatric Disorders v0.7 ACTG2 Louise Daugherty Source Next Generation Children Project was added to ACTG2.
Severe Paediatric Disorders v0.7 ACTG1 Louise Daugherty Source Next Generation Children Project was added to ACTG1.
Severe Paediatric Disorders v0.5 ITGAM Louise Daugherty Source Expert Review Red was added to ITGAM.
Severe Paediatric Disorders v0.5 ATG16L1 Louise Daugherty Source Expert Review Red was added to ATG16L1.
Severe Paediatric Disorders v0.5 TGM6 Louise Daugherty Source Expert Review Green was added to TGM6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 TGM5 Louise Daugherty Source Expert Review Green was added to TGM5.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 TGM1 Louise Daugherty Source Expert Review Green was added to TGM1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 TGIF1 Louise Daugherty Source Expert Review Green was added to TGIF1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 TGFBR2 Louise Daugherty Source Expert Review Green was added to TGFBR2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 TGFBR1 Louise Daugherty Source Expert Review Green was added to TGFBR1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 TGFB3 Louise Daugherty Source Expert Review Green was added to TGFB3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 TGFB2 Louise Daugherty Source Expert Review Green was added to TGFB2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 TGFB1 Louise Daugherty Source Expert Review Green was added to TGFB1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 TGDS Louise Daugherty Source Expert Review Green was added to TGDS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 TG Louise Daugherty Source Expert Review Green was added to TG.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 MT-TG Louise Daugherty Source Expert Review Green was added to MT-TG.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ITGB4 Louise Daugherty Source Expert Review Green was added to ITGB4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ITGB3 Louise Daugherty Source Expert Review Green was added to ITGB3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ITGB2 Louise Daugherty Source Expert Review Green was added to ITGB2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ITGA8 Louise Daugherty Source Expert Review Green was added to ITGA8.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ITGA7 Louise Daugherty Source Expert Review Green was added to ITGA7.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ITGA6 Louise Daugherty Source Expert Review Green was added to ITGA6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ITGA3 Louise Daugherty Source Expert Review Green was added to ITGA3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ITGA2B Louise Daugherty Source Expert Review Green was added to ITGA2B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 GNPTG Louise Daugherty Source Expert Review Green was added to GNPTG.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ACTG2 Louise Daugherty Source Expert Review Green was added to ACTG2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ACTG1 Louise Daugherty Source Expert Review Green was added to ACTG1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 ITGAM Louise Daugherty gene: ITGAM was added
gene: ITGAM was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ITGAM was set to
Severe Paediatric Disorders v0.4 ATG16L1 Louise Daugherty gene: ATG16L1 was added
gene: ATG16L1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ATG16L1 was set to
Severe Paediatric Disorders v0.4 TGM6 Louise Daugherty gene: TGM6 was added
gene: TGM6 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TGM6 was set to
Severe Paediatric Disorders v0.4 TGM5 Louise Daugherty gene: TGM5 was added
gene: TGM5 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TGM5 was set to
Severe Paediatric Disorders v0.4 TGM1 Louise Daugherty gene: TGM1 was added
gene: TGM1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TGM1 was set to
Severe Paediatric Disorders v0.4 TGIF1 Louise Daugherty gene: TGIF1 was added
gene: TGIF1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TGIF1 was set to
Severe Paediatric Disorders v0.4 TGFBR2 Louise Daugherty gene: TGFBR2 was added
gene: TGFBR2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TGFBR2 was set to
Severe Paediatric Disorders v0.4 TGFBR1 Louise Daugherty gene: TGFBR1 was added
gene: TGFBR1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TGFBR1 was set to
Severe Paediatric Disorders v0.4 TGFB3 Louise Daugherty gene: TGFB3 was added
gene: TGFB3 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TGFB3 was set to
Severe Paediatric Disorders v0.4 TGFB2 Louise Daugherty gene: TGFB2 was added
gene: TGFB2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TGFB2 was set to
Severe Paediatric Disorders v0.4 TGFB1 Louise Daugherty gene: TGFB1 was added
gene: TGFB1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TGFB1 was set to
Severe Paediatric Disorders v0.4 TGDS Louise Daugherty gene: TGDS was added
gene: TGDS was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TGDS was set to
Severe Paediatric Disorders v0.4 TG Louise Daugherty gene: TG was added
gene: TG was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TG was set to
Severe Paediatric Disorders v0.4 MT-TG Louise Daugherty gene: MT-TG was added
gene: MT-TG was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene gene: MT-TG was set to MITOCHONDRIAL
Severe Paediatric Disorders v0.4 ITGB4 Louise Daugherty gene: ITGB4 was added
gene: ITGB4 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ITGB4 was set to
Severe Paediatric Disorders v0.4 ITGB3 Louise Daugherty gene: ITGB3 was added
gene: ITGB3 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ITGB3 was set to
Severe Paediatric Disorders v0.4 ITGB2 Louise Daugherty gene: ITGB2 was added
gene: ITGB2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ITGB2 was set to
Severe Paediatric Disorders v0.4 ITGA8 Louise Daugherty gene: ITGA8 was added
gene: ITGA8 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ITGA8 was set to
Severe Paediatric Disorders v0.4 ITGA7 Louise Daugherty gene: ITGA7 was added
gene: ITGA7 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ITGA7 was set to
Severe Paediatric Disorders v0.4 ITGA6 Louise Daugherty gene: ITGA6 was added
gene: ITGA6 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ITGA6 was set to
Severe Paediatric Disorders v0.4 ITGA3 Louise Daugherty gene: ITGA3 was added
gene: ITGA3 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ITGA3 was set to
Severe Paediatric Disorders v0.4 ITGA2B Louise Daugherty gene: ITGA2B was added
gene: ITGA2B was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ITGA2B was set to
Severe Paediatric Disorders v0.4 GNPTG Louise Daugherty gene: GNPTG was added
gene: GNPTG was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: GNPTG was set to
Severe Paediatric Disorders v0.4 ACTG2 Louise Daugherty gene: ACTG2 was added
gene: ACTG2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ACTG2 was set to
Severe Paediatric Disorders v0.4 ACTG1 Louise Daugherty gene: ACTG1 was added
gene: ACTG1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ACTG1 was set to