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Severe Paediatric Disorders v1.159 DCC Ataf Sabir changed review comment from: could we consider upgrading this gene to green and add to gms available genes in light of emerging literature

https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61952
https://www.biorxiv.org/content/10.1101/2022.10.13.511954v1.abstract; to: could we consider upgrading this gene to green and add to gms available genes in light of emerging literature

https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61952
https://www.biorxiv.org/content/10.1101/2022.10.13.511954v1.abstract

in relation to the condition HGPPS2 (See OMIM)
there was only 1 report before, but evidence building now
Severe Paediatric Disorders v0.12 TRAC Louise Daugherty reviewed gene: TRAC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 TRAC Louise Daugherty Publications for gene TRAC were updated from to 30847515
Severe Paediatric Disorders v0.10 TRAC Louise Daugherty Added phenotypes Immunodeficiency 7, TCR-alpha/beta deficient, 615387 for gene: TRAC
Severe Paediatric Disorders v0.10 TBX18 Louise Daugherty Added phenotypes Congenital anomalies of kidney and urinary tract 2, 143400 for gene: TBX18
Severe Paediatric Disorders v0.10 SETBP1 Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 29, 616078; Schinzel-Giedion midface retraction syndrome, 269150 for gene: SETBP1
Severe Paediatric Disorders v0.10 PRNP Louise Daugherty Added phenotypes Creutzfeldt-Jakob disease, 123400; Huntington disease-like 1, 603218; Insomnia, fatal familial, 600072; Prion disease with protracted course, 606688; Cerebral amyloid angiopathy, PRNP-related, 137440; Gerstmann-Straussler disease, 137440 for gene: PRNP
Severe Paediatric Disorders v0.10 PRKAR1A Louise Daugherty Added phenotypes Pigmented nodular adrenocortical disease, primary, 1, 610489; Carney complex, type 1, 160980; Acrodysostosis 1, with or without hormone resistance, 101800; Myxoma, intracardiac, 255960 for gene: PRKAR1A
Severe Paediatric Disorders v0.10 PBX1 Louise Daugherty Added phenotypes Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, 617641 for gene: PBX1
Severe Paediatric Disorders v0.10 NFIA Louise Daugherty Added phenotypes Brain malformations with or without urinary tract defects, 613735 for gene: NFIA
Severe Paediatric Disorders v0.10 NALCN Louise Daugherty Added phenotypes Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 for gene: NALCN
Severe Paediatric Disorders v0.10 MYH3 Louise Daugherty Added phenotypes Contractures, pterygia, and variable skeletal fusions syndrome 1B, 618469; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436; Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700; Contractures, pterygia, and variable skeletal fusions syndrome 1A, 178110 for gene: MYH3
Severe Paediatric Disorders v0.10 MYBPC1 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 1B, 614335; Lethal congenital contracture syndrome 4, 614915; Myopathy, congenital, with tremor, 618524 for gene: MYBPC1
Severe Paediatric Disorders v0.10 MAFB Louise Daugherty Added phenotypes Multicentric carpotarsal osteolysis syndrome, 166300; Duane retraction syndrome 3, 617041 for gene: MAFB
Severe Paediatric Disorders v0.10 KIF5A Louise Daugherty Added phenotypes Spastic paraplegia 10, autosomal dominant, 604187; Myoclonus, intractable, neonatal, 617235 for gene: KIF5A
Severe Paediatric Disorders v0.10 KCTD7 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 for gene: KCTD7
Severe Paediatric Disorders v0.10 GLE1 Louise Daugherty Added phenotypes Congenital arthrogryposis with anterior horn cell disease, 611890; Lethal congenital contracture syndrome 1, 253310 for gene: GLE1
Severe Paediatric Disorders v0.10 GLDN Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 11, 617194 for gene: GLDN
Severe Paediatric Disorders v0.10 FBN2 Louise Daugherty Added phenotypes Macular degeneration, early-onset, 616118; Contractural arachnodactyly, congenital, 121050 for gene: FBN2
Severe Paediatric Disorders v0.10 FAM111B Louise Daugherty Added phenotypes Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 for gene: FAM111B
Severe Paediatric Disorders v0.10 DSTYK Louise Daugherty Added phenotypes Spastic paraplegia 23, 270750; Congenital anomalies of kidney and urinary tract 1, 610805 for gene: DSTYK
Severe Paediatric Disorders v0.10 DNM2 Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 5, 615368; Charcot-Marie-Tooth disease, dominant intermediate B, 606482; Charcot-Marie-Tooth disease, axonal type 2M, 606482; Centronuclear myopathy 1, 160150 for gene: DNM2
Severe Paediatric Disorders v0.10 CNTNAP1 Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 7, 616286; Hypomyelinating neuropathy, congenital, 3, 618186 for gene: CNTNAP1
Severe Paediatric Disorders v0.10 CHST14 Louise Daugherty Added phenotypes Ehlers-Danlos syndrome, musculocontractural type 1, 601776 for gene: CHST14
Severe Paediatric Disorders v0.10 BNC2 Louise Daugherty Added phenotypes Lower urinary tract obstruction, congenital, 618612 for gene: BNC2
Severe Paediatric Disorders v0.10 ADGRG6 Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 9, 616503 for gene: ADGRG6
Severe Paediatric Disorders v0.9 TRAC Louise Daugherty Added phenotypes Immunodeficiency 7, TCR-alpha/beta deficient, 615387 for gene: TRAC
Severe Paediatric Disorders v0.9 TBX18 Louise Daugherty Added phenotypes Congenital anomalies of kidney and urinary tract 2, 143400 for gene: TBX18
Severe Paediatric Disorders v0.9 SETBP1 Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 29, 616078; Schinzel-Giedion midface retraction syndrome, 269150 for gene: SETBP1
Severe Paediatric Disorders v0.9 PRNP Louise Daugherty Added phenotypes Creutzfeldt-Jakob disease, 123400; Huntington disease-like 1, 603218; Insomnia, fatal familial, 600072; Prion disease with protracted course, 606688; Cerebral amyloid angiopathy, PRNP-related, 137440; Gerstmann-Straussler disease, 137440 for gene: PRNP
Severe Paediatric Disorders v0.9 PRKAR1A Louise Daugherty Added phenotypes Pigmented nodular adrenocortical disease, primary, 1, 610489; Carney complex, type 1, 160980; Acrodysostosis 1, with or without hormone resistance, 101800; Myxoma, intracardiac, 255960 for gene: PRKAR1A
Severe Paediatric Disorders v0.9 PBX1 Louise Daugherty Added phenotypes Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, 617641 for gene: PBX1
Severe Paediatric Disorders v0.9 NFIA Louise Daugherty Added phenotypes Brain malformations with or without urinary tract defects, 613735 for gene: NFIA
Severe Paediatric Disorders v0.9 NALCN Louise Daugherty Added phenotypes Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 for gene: NALCN
Severe Paediatric Disorders v0.9 MYH3 Louise Daugherty Added phenotypes Contractures, pterygia, and variable skeletal fusions syndrome 1B, 618469; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436; Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700; Contractures, pterygia, and variable skeletal fusions syndrome 1A, 178110 for gene: MYH3
Severe Paediatric Disorders v0.9 MYBPC1 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 1B, 614335; Lethal congenital contracture syndrome 4, 614915; Myopathy, congenital, with tremor, 618524 for gene: MYBPC1
Severe Paediatric Disorders v0.9 MAFB Louise Daugherty Added phenotypes Multicentric carpotarsal osteolysis syndrome, 166300; Duane retraction syndrome 3, 617041 for gene: MAFB
Severe Paediatric Disorders v0.9 KIF5A Louise Daugherty Added phenotypes Spastic paraplegia 10, autosomal dominant, 604187; Myoclonus, intractable, neonatal, 617235 for gene: KIF5A
Severe Paediatric Disorders v0.9 KCTD7 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 for gene: KCTD7
Severe Paediatric Disorders v0.9 GLE1 Louise Daugherty Added phenotypes Congenital arthrogryposis with anterior horn cell disease, 611890; Lethal congenital contracture syndrome 1, 253310 for gene: GLE1
Severe Paediatric Disorders v0.9 GLDN Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 11, 617194 for gene: GLDN
Severe Paediatric Disorders v0.9 FBN2 Louise Daugherty Added phenotypes Macular degeneration, early-onset, 616118; Contractural arachnodactyly, congenital, 121050 for gene: FBN2
Severe Paediatric Disorders v0.9 FAM111B Louise Daugherty Added phenotypes Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 for gene: FAM111B
Severe Paediatric Disorders v0.9 DSTYK Louise Daugherty Added phenotypes Spastic paraplegia 23, 270750; Congenital anomalies of kidney and urinary tract 1, 610805 for gene: DSTYK
Severe Paediatric Disorders v0.9 DNM2 Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 5, 615368; Charcot-Marie-Tooth disease, dominant intermediate B, 606482; Charcot-Marie-Tooth disease, axonal type 2M, 606482; Centronuclear myopathy 1, 160150 for gene: DNM2
Severe Paediatric Disorders v0.9 CNTNAP1 Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 7, 616286; Hypomyelinating neuropathy, congenital, 3, 618186 for gene: CNTNAP1
Severe Paediatric Disorders v0.9 CHST14 Louise Daugherty Added phenotypes Ehlers-Danlos syndrome, musculocontractural type 1, 601776 for gene: CHST14
Severe Paediatric Disorders v0.9 BNC2 Louise Daugherty Added phenotypes Lower urinary tract obstruction, congenital, 618612 for gene: BNC2
Severe Paediatric Disorders v0.9 ADGRG6 Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 9, 616503 for gene: ADGRG6
Severe Paediatric Disorders v0.9 TRAC Louise Daugherty Added phenotypes Immunodeficiency 7, TCR-alpha/beta deficient, 615387 for gene: TRAC
Severe Paediatric Disorders v0.9 TBX18 Louise Daugherty Added phenotypes Congenital anomalies of kidney and urinary tract 2, 143400 for gene: TBX18
Severe Paediatric Disorders v0.9 SETBP1 Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 29, 616078; Schinzel-Giedion midface retraction syndrome, 269150 for gene: SETBP1
Severe Paediatric Disorders v0.9 PRNP Louise Daugherty Added phenotypes Creutzfeldt-Jakob disease, 123400; Huntington disease-like 1, 603218; Insomnia, fatal familial, 600072; Prion disease with protracted course, 606688; Cerebral amyloid angiopathy, PRNP-related, 137440; Gerstmann-Straussler disease, 137440 for gene: PRNP
Severe Paediatric Disorders v0.9 PRKAR1A Louise Daugherty Added phenotypes Pigmented nodular adrenocortical disease, primary, 1, 610489; Carney complex, type 1, 160980; Acrodysostosis 1, with or without hormone resistance, 101800; Myxoma, intracardiac, 255960 for gene: PRKAR1A
Severe Paediatric Disorders v0.9 PBX1 Louise Daugherty Added phenotypes Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, 617641 for gene: PBX1
Severe Paediatric Disorders v0.9 NFIA Louise Daugherty Added phenotypes Brain malformations with or without urinary tract defects, 613735 for gene: NFIA
Severe Paediatric Disorders v0.9 NALCN Louise Daugherty Added phenotypes Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 for gene: NALCN
Severe Paediatric Disorders v0.9 MYH3 Louise Daugherty Added phenotypes Contractures, pterygia, and variable skeletal fusions syndrome 1B, 618469; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436; Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700; Contractures, pterygia, and variable skeletal fusions syndrome 1A, 178110 for gene: MYH3
Severe Paediatric Disorders v0.9 MYBPC1 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 1B, 614335; Lethal congenital contracture syndrome 4, 614915; Myopathy, congenital, with tremor, 618524 for gene: MYBPC1
Severe Paediatric Disorders v0.9 MAFB Louise Daugherty Added phenotypes Multicentric carpotarsal osteolysis syndrome, 166300; Duane retraction syndrome 3, 617041 for gene: MAFB
Severe Paediatric Disorders v0.9 KIF5A Louise Daugherty Added phenotypes Spastic paraplegia 10, autosomal dominant, 604187; Myoclonus, intractable, neonatal, 617235 for gene: KIF5A
Severe Paediatric Disorders v0.9 KCTD7 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 for gene: KCTD7
Severe Paediatric Disorders v0.9 GLE1 Louise Daugherty Added phenotypes Congenital arthrogryposis with anterior horn cell disease, 611890; Lethal congenital contracture syndrome 1, 253310 for gene: GLE1
Severe Paediatric Disorders v0.9 GLDN Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 11, 617194 for gene: GLDN
Severe Paediatric Disorders v0.9 FBN2 Louise Daugherty Added phenotypes Macular degeneration, early-onset, 616118; Contractural arachnodactyly, congenital, 121050 for gene: FBN2
Severe Paediatric Disorders v0.9 FAM111B Louise Daugherty Added phenotypes Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 for gene: FAM111B
Severe Paediatric Disorders v0.9 DSTYK Louise Daugherty Added phenotypes Spastic paraplegia 23, 270750; Congenital anomalies of kidney and urinary tract 1, 610805 for gene: DSTYK
Severe Paediatric Disorders v0.9 DNM2 Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 5, 615368; Charcot-Marie-Tooth disease, dominant intermediate B, 606482; Charcot-Marie-Tooth disease, axonal type 2M, 606482; Centronuclear myopathy 1, 160150 for gene: DNM2
Severe Paediatric Disorders v0.9 CNTNAP1 Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 7, 616286; Hypomyelinating neuropathy, congenital, 3, 618186 for gene: CNTNAP1
Severe Paediatric Disorders v0.9 CHST14 Louise Daugherty Added phenotypes Ehlers-Danlos syndrome, musculocontractural type 1, 601776 for gene: CHST14
Severe Paediatric Disorders v0.9 BNC2 Louise Daugherty Added phenotypes Lower urinary tract obstruction, congenital, 618612 for gene: BNC2
Severe Paediatric Disorders v0.9 ADGRG6 Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 9, 616503 for gene: ADGRG6
Severe Paediatric Disorders v0.8 TRAC Louise Daugherty Added phenotypes Immunodeficiency 7, TCR-alpha/beta deficient, 615387 for gene: TRAC
Severe Paediatric Disorders v0.8 TBX18 Louise Daugherty Added phenotypes Congenital anomalies of kidney and urinary tract 2, 143400 for gene: TBX18
Severe Paediatric Disorders v0.8 SETBP1 Louise Daugherty Added phenotypes Schinzel-Giedion midface retraction syndrome, 269150; Mental retardation, autosomal dominant 29, 616078 for gene: SETBP1
Severe Paediatric Disorders v0.8 PRNP Louise Daugherty Added phenotypes Cerebral amyloid angiopathy, PRNP-related, 137440; Prion disease with protracted course, 606688; Insomnia, fatal familial, 600072; Creutzfeldt-Jakob disease, 123400; Huntington disease-like 1, 603218; Gerstmann-Straussler disease, 137440 for gene: PRNP
Severe Paediatric Disorders v0.8 PRKAR1A Louise Daugherty Added phenotypes Acrodysostosis 1, with or without hormone resistance, 101800; Pigmented nodular adrenocortical disease, primary, 1, 610489; Carney complex, type 1, 160980; Myxoma, intracardiac, 255960 for gene: PRKAR1A
Severe Paediatric Disorders v0.8 PBX1 Louise Daugherty Added phenotypes Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, 617641 for gene: PBX1
Severe Paediatric Disorders v0.8 NFIA Louise Daugherty Added phenotypes Brain malformations with or without urinary tract defects, 613735 for gene: NFIA
Severe Paediatric Disorders v0.8 NALCN Louise Daugherty Added phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419; Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266 for gene: NALCN
Severe Paediatric Disorders v0.8 MYH3 Louise Daugherty Added phenotypes Contractures, pterygia, and variable skeletal fusions syndrome 1A, 178110; Contractures, pterygia, and variable skeletal fusions syndrome 1B, 618469; Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436 for gene: MYH3
Severe Paediatric Disorders v0.8 MYBPC1 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 1B, 614335; Lethal congenital contracture syndrome 4, 614915; Myopathy, congenital, with tremor, 618524 for gene: MYBPC1
Severe Paediatric Disorders v0.8 MAFB Louise Daugherty Added phenotypes Duane retraction syndrome 3, 617041; Multicentric carpotarsal osteolysis syndrome, 166300 for gene: MAFB
Severe Paediatric Disorders v0.8 KIF5A Louise Daugherty Added phenotypes Myoclonus, intractable, neonatal, 617235; Spastic paraplegia 10, autosomal dominant, 604187 for gene: KIF5A
Severe Paediatric Disorders v0.8 KCTD7 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 for gene: KCTD7
Severe Paediatric Disorders v0.8 GLE1 Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 1, 253310; Congenital arthrogryposis with anterior horn cell disease, 611890 for gene: GLE1
Severe Paediatric Disorders v0.8 GLDN Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 11, 617194 for gene: GLDN
Severe Paediatric Disorders v0.8 FBN2 Louise Daugherty Added phenotypes Contractural arachnodactyly, congenital, 121050; Macular degeneration, early-onset, 616118 for gene: FBN2
Severe Paediatric Disorders v0.8 FAM111B Louise Daugherty Added phenotypes Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 for gene: FAM111B
Severe Paediatric Disorders v0.8 DSTYK Louise Daugherty Added phenotypes Spastic paraplegia 23, 270750; Congenital anomalies of kidney and urinary tract 1, 610805 for gene: DSTYK
Severe Paediatric Disorders v0.8 DNM2 Louise Daugherty Added phenotypes Centronuclear myopathy 1, 160150; Lethal congenital contracture syndrome 5, 615368; Charcot-Marie-Tooth disease, dominant intermediate B, 606482; Charcot-Marie-Tooth disease, axonal type 2M, 606482 for gene: DNM2
Severe Paediatric Disorders v0.8 CNTNAP1 Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 7, 616286; Hypomyelinating neuropathy, congenital, 3, 618186 for gene: CNTNAP1
Severe Paediatric Disorders v0.8 CHST14 Louise Daugherty Added phenotypes Ehlers-Danlos syndrome, musculocontractural type 1, 601776 for gene: CHST14
Severe Paediatric Disorders v0.8 BNC2 Louise Daugherty Added phenotypes Lower urinary tract obstruction, congenital, 618612 for gene: BNC2
Severe Paediatric Disorders v0.8 ADGRG6 Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 9, 616503 for gene: ADGRG6
Severe Paediatric Disorders v0.8 TRAC Louise Daugherty Mode of inheritance for gene TRAC was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Immunodeficiency 7, TCR-alpha/beta deficient, 615387 for gene: TRAC
Severe Paediatric Disorders v0.8 TBX18 Louise Daugherty Mode of inheritance for gene TBX18 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Congenital anomalies of kidney and urinary tract 2, 143400 for gene: TBX18
Severe Paediatric Disorders v0.8 SETBP1 Louise Daugherty Mode of inheritance for gene SETBP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Mental retardation, autosomal dominant 29, 616078; Schinzel-Giedion midface retraction syndrome, 269150 for gene: SETBP1
Severe Paediatric Disorders v0.7 TRAC Louise Daugherty Source Next Generation Children Project was added to TRAC.
Severe Paediatric Disorders v0.5 TRAC Louise Daugherty Source Expert Review Green was added to TRAC.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 TRAC Louise Daugherty gene: TRAC was added
gene: TRAC was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TRAC was set to