| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Multiple joint dislocations and laxity v0.9 | CSGALNACT1 | Zornitza Stark Marked gene: CSGALNACT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple joint dislocations and laxity v0.9 | CSGALNACT1 | Zornitza Stark Gene: csgalnact1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple joint dislocations and laxity v0.9 | CSGALNACT1 | Zornitza Stark Phenotypes for gene: CSGALNACT1 were changed from CHONDROITIN SULFATE N-ACETYLGALACTOSAMINYLTRANSFERASE 1 616615 to Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple joint dislocations and laxity v0.8 |
Zornitza Stark HPO terms changed from to Joint dislocation, HP:0001373; Joint laxity, HP:0001388 List of related panels changed from to Joint dislocation; HP:0001373; Joint laxity; HP:0001388 |
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| Multiple joint dislocations and laxity v0.6 | EXOC6B | Bryony Thompson Marked gene: EXOC6B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple joint dislocations and laxity v0.6 | EXOC6B | Bryony Thompson Gene: exoc6b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple joint dislocations and laxity v0.6 | EXOC6B | Bryony Thompson Publications for gene: EXOC6B were set to 26669664; 30284759 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple joint dislocations and laxity v0.5 | EXOC6B | Bryony Thompson reviewed gene: EXOC6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 26669664, 30284759, 36150098; Phenotypes: Spondyloepimetaphyseal dysplasia with joint laxity MONDO:0019675; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple joint dislocations and laxity v0.5 | GZF1 | Zornitza Stark Marked gene: GZF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple joint dislocations and laxity v0.5 | GZF1 | Zornitza Stark Gene: gzf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple joint dislocations and laxity v0.5 | GZF1 | Zornitza Stark Phenotypes for gene: GZF1 were changed from JOINT LAXITY, SHORT STATURE, AND MYOPIA 617662 to Joint laxity, short stature, and myopia, MIM# 617662; Larsen-like syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple joint dislocations and laxity v0.4 | GZF1 | Zornitza Stark Publications for gene: GZF1 were set to 28475863 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple joint dislocations and laxity v0.3 | GZF1 | Zornitza Stark reviewed gene: GZF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33009817, 28475863; Phenotypes: Joint laxity, short stature, and myopia, MIM# 617662, Larsen-like syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple joint dislocations and laxity v0.3 | Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple joint dislocations and laxity v0.2 | Tiong Tan Panel status changed from deleted to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple joint dislocations and laxity v0.1 | FAM20B | Tiong Tan Added phenotypes FAM20B GLYCOSAMINOGLYCAN XYLOSYLKINASE 611063 for gene: FAM20B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple joint dislocations and laxity v0.1 | GZF1 |
Tiong Tan Source Victorian Clinical Genetics Services was added to GZF1. Added phenotypes JOINT LAXITY, SHORT STATURE, AND MYOPIA 617662 for gene: GZF1 |
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| Multiple joint dislocations and laxity v0.1 | CSGALNACT1 |
Tiong Tan Source Victorian Clinical Genetics Services was added to CSGALNACT1. Added phenotypes CHONDROITIN SULFATE N-ACETYLGALACTOSAMINYLTRANSFERASE 1 616615 for gene: CSGALNACT1 |
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| Multiple joint dislocations and laxity v0.1 | EXOC6B |
Tiong Tan Source Victorian Clinical Genetics Services was added to EXOC6B. Added phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3 618395 for gene: EXOC6B |
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| Multiple joint dislocations and laxity v0.1 | PLOD1 |
Tiong Tan Source Victorian Clinical Genetics Services was added to PLOD1. Added phenotypes EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 225400 for gene: PLOD1 Publications for gene PLOD1 were updated from 1345174; 11001813 to 1345174; 11001813 |
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| Multiple joint dislocations and laxity v0.1 | FKBP14 |
Tiong Tan Source Victorian Clinical Genetics Services was added to FKBP14. Added phenotypes EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS 614557 for gene: FKBP14 |
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| Multiple joint dislocations and laxity v0.1 | SLC10A7 |
Tiong Tan Source Victorian Clinical Genetics Services was added to SLC10A7. Added phenotypes Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 618363; skeletal dysplasia and amelogenesis imperfecta for gene: SLC10A7 |
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| Multiple joint dislocations and laxity v0.1 | B3GALT6 |
Tiong Tan Source Victorian Clinical Genetics Services was added to B3GALT6. Added phenotypes Ehlers-Danlos syndrome, progeroid type, 2 615349; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640 for gene: B3GALT6 |
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| Multiple joint dislocations and laxity v0.1 | KIF22 |
Tiong Tan Source Victorian Clinical Genetics Services was added to KIF22. Added phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 2 603546 for gene: KIF22 |
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| Multiple joint dislocations and laxity v0.1 | XYLT1 |
Tiong Tan Source Expert Review Green was added to XYLT1. Source Victorian Clinical Genetics Services was added to XYLT1. Added phenotypes DESBUQUOIS DYSPLASIA 2 615777 for gene: XYLT1 Publications for gene XYLT1 were updated from 24581741; 23982343 to 23982343; 24581741 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Multiple joint dislocations and laxity v0.1 | CHST14 |
Tiong Tan Source Victorian Clinical Genetics Services was added to CHST14. Added phenotypes Ehlers-Danlos syndrome, musculocontractural type 1 601776 for gene: CHST14 |
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| Multiple joint dislocations and laxity v0.1 | FLNA |
Tiong Tan Source Victorian Clinical Genetics Services was added to FLNA. Added phenotypes Otopalatodigital syndrome, type II -304120; Melnick Needles syndrome 309350; Osteodysplasty Melnick Needles 309350 XLD; Frontometaphyseal dysplasia 305620 XLR; Terminal osseous dysplasia 300244; Otopalatodigital syndrome, type I -311300; Otopalatodigital syndrome, type II 304120 XLD; Frontometaphyseal dysplasia 305620 for gene: FLNA |
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| Multiple joint dislocations and laxity v0.1 | CANT1 |
Tiong Tan Source Victorian Clinical Genetics Services was added to CANT1. Added phenotypes multiple epiphyseal dysplasia type 7, 617719.; Desbuquois dysplasia 1 251450 for gene: CANT1 |
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| Multiple joint dislocations and laxity v0.1 | CHST3 |
Tiong Tan Source Victorian Clinical Genetics Services was added to CHST3. Added phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) 143095 for gene: CHST3 |
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| Multiple joint dislocations and laxity v0.1 | B3GAT3 |
Tiong Tan Source Victorian Clinical Genetics Services was added to B3GAT3. Added phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600; Larsen alike phenotype (skd incl) for gene: B3GAT3 |
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| Multiple joint dislocations and laxity v0.1 | FLNB |
Tiong Tan Source Victorian Clinical Genetics Services was added to FLNB. Added phenotypes Atelosteogenesis, type I 108720; Atelosteogenesis, type III 108721; Larsen syndrome 150250; Spondylocarpotarsal synostosis syndrome 272460; Boomerang dysplasia 112310 for gene: FLNB |
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| Multiple joint dislocations and laxity v0.0 | Tiong Tan Panel deleted | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple joint dislocations and laxity v0.0 | FAM20B |
Tiong Tan gene: FAM20B was added gene: FAM20B was added to Multiple joint dislocations and laxity. Sources: Literature,Expert Review Amber Mode of inheritance for gene: FAM20B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM20B were set to 30847897 Phenotypes for gene: FAM20B were set to FAM20B GLYCOSAMINOGLYCAN XYLOSYLKINASE 611063 |
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| Multiple joint dislocations and laxity v0.0 | GZF1 |
Tiong Tan gene: GZF1 was added gene: GZF1 was added to Multiple joint dislocations and laxity. Sources: Expert Review Green,Literature Mode of inheritance for gene: GZF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GZF1 were set to 28475863 Phenotypes for gene: GZF1 were set to JOINT LAXITY, SHORT STATURE, AND MYOPIA 617662 |
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| Multiple joint dislocations and laxity v0.0 | CSGALNACT1 |
Tiong Tan gene: CSGALNACT1 was added gene: CSGALNACT1 was added to Multiple joint dislocations and laxity. Sources: Expert Review Green,Literature Mode of inheritance for gene: CSGALNACT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSGALNACT1 were set to 31705726; 31325655 Phenotypes for gene: CSGALNACT1 were set to CHONDROITIN SULFATE N-ACETYLGALACTOSAMINYLTRANSFERASE 1 616615 |
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| Multiple joint dislocations and laxity v0.0 | EXOC6B |
Tiong Tan gene: EXOC6B was added gene: EXOC6B was added to Multiple joint dislocations and laxity. Sources: Expert Review Green,Literature Mode of inheritance for gene: EXOC6B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOC6B were set to 26669664; 30284759 Phenotypes for gene: EXOC6B were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3 618395 |
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| Multiple joint dislocations and laxity v0.0 | PLOD1 |
Tiong Tan gene: PLOD1 was added gene: PLOD1 was added to Multiple joint dislocations and laxity. Sources: Expert Review Green,Literature Mode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLOD1 were set to 1345174; 11001813 Phenotypes for gene: PLOD1 were set to EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 225400 |
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| Multiple joint dislocations and laxity v0.0 | FKBP14 |
Tiong Tan gene: FKBP14 was added gene: FKBP14 was added to Multiple joint dislocations and laxity. Sources: Expert Review Green,Literature Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKBP14 were set to 28617417; 22265013 Phenotypes for gene: FKBP14 were set to EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS 614557 |
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| Multiple joint dislocations and laxity v0.0 | SLC10A7 |
Tiong Tan gene: SLC10A7 was added gene: SLC10A7 was added to Multiple joint dislocations and laxity. Sources: Expert Review Green,Literature Mode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC10A7 were set to 30082715 Phenotypes for gene: SLC10A7 were set to skeletal dysplasia and amelogenesis imperfecta; Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 618363 |
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| Multiple joint dislocations and laxity v0.0 | B3GALT6 |
Tiong Tan gene: B3GALT6 was added gene: B3GALT6 was added to Multiple joint dislocations and laxity. Sources: Expert Review Green,NHS GMS,Emory Genetics Laboratory Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B3GALT6 were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640; Ehlers-Danlos syndrome, progeroid type, 2 615349 |
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| Multiple joint dislocations and laxity v0.0 | KIF22 |
Tiong Tan gene: KIF22 was added gene: KIF22 was added to Multiple joint dislocations and laxity. Sources: Expert list,Expert Review Green,NHS GMS,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN Mode of inheritance for gene: KIF22 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KIF22 were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 2 603546 |
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| Multiple joint dislocations and laxity v0.0 | XYLT1 |
Tiong Tan gene: XYLT1 was added gene: XYLT1 was added to Multiple joint dislocations and laxity. Sources: VCGS Expert Review Green Mode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XYLT1 were set to 24581741; 23982343 Phenotypes for gene: XYLT1 were set to DESBUQUOIS DYSPLASIA 2 615777 |
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| Multiple joint dislocations and laxity v0.0 | CHST14 |
Tiong Tan gene: CHST14 was added gene: CHST14 was added to Multiple joint dislocations and laxity. Sources: Expert list,Expert Review Green,NHS GMS,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1 601776 |
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| Multiple joint dislocations and laxity v0.0 | FLNA |
Tiong Tan gene: FLNA was added gene: FLNA was added to Multiple joint dislocations and laxity. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: FLNA were set to Frontometaphyseal dysplasia 305620; Osteodysplasty Melnick Needles 309350 XLD; Melnick Needles syndrome 309350; Otopalatodigital syndrome, type I -311300; Frontometaphyseal dysplasia 305620 XLR; Otopalatodigital syndrome, type II 304120 XLD; Terminal osseous dysplasia 300244; Otopalatodigital syndrome, type II -304120 |
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| Multiple joint dislocations and laxity v0.0 | CANT1 |
Tiong Tan gene: CANT1 was added gene: CANT1 was added to Multiple joint dislocations and laxity. Sources: Expert list,Expert Review Green,NHS GMS,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN Mode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CANT1 were set to Desbuquois dysplasia 1 251450; multiple epiphyseal dysplasia type 7, 617719. |
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| Multiple joint dislocations and laxity v0.0 | CHST3 |
Tiong Tan gene: CHST3 was added gene: CHST3 was added to Multiple joint dislocations and laxity. Sources: Expert Review Green,NHS GMS,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHST3 were set to Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) 143095 |
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| Multiple joint dislocations and laxity v0.0 | B3GAT3 |
Tiong Tan gene: B3GAT3 was added gene: B3GAT3 was added to Multiple joint dislocations and laxity. Sources: Expert Review Green,NHS GMS,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B3GAT3 were set to Larsen alike phenotype (skd incl); Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600 |
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| Multiple joint dislocations and laxity v0.0 | FLNB |
Tiong Tan gene: FLNB was added gene: FLNB was added to Multiple joint dislocations and laxity. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FLNB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FLNB were set to Boomerang dysplasia 112310; Atelosteogenesis, type I 108720; Atelosteogenesis, type III 108721; Larsen syndrome 150250; Spondylocarpotarsal synostosis syndrome 272460 |
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| Multiple joint dislocations and laxity v0.0 | Tiong Tan Added panel Multiple joint dislocations and laxity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||