Multiple joint dislocations and laxity (Version 0.9)

Description

Created and maintained by VCGS

Panel Activity

5 reviewers

Tiong Tan (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

16 Entities

15 reviewed, 15 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 16 Entitiess
Green Green List (high evidence)	B3GALT6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, progeroid type, 2 615349 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640 Tags
Green Green List (high evidence)	B3GAT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600 Larsen alike phenotype (skd incl) Tags
Green Green List (high evidence)	CANT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS UKGTN Victorian Clinical Genetics Services Phenotypes multiple epiphyseal dysplasia type 7, 617719. Desbuquois dysplasia 1 251450 Tags
Green Green List (high evidence)	CHST14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1 601776 Tags
Green Green List (high evidence)	CHST3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) 143095 Tags
Green Green List (high evidence)	CSGALNACT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870 Tags
Green Green List (high evidence)	EXOC6B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3 618395 Tags
Green Green List (high evidence)	FKBP14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS 614557 Tags
Green Green List (high evidence)	FLNA	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services 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 Tags
Green Green List (high evidence)	FLNB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Atelosteogenesis, type I 108720 Atelosteogenesis, type III 108721 Larsen syndrome 150250 Spondylocarpotarsal synostosis syndrome 272460 Boomerang dysplasia 112310 Tags
Green Green List (high evidence)	GZF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Joint laxity, short stature, and myopia, MIM# 617662 Larsen-like syndrome Tags
Green Green List (high evidence)	KIF22	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 2 603546 Tags
Green Green List (high evidence)	PLOD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 225400 Tags
Green Green List (high evidence)	SLC10A7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 618363 skeletal dysplasia and amelogenesis imperfecta Tags
Green Green List (high evidence)	XYLT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green VCGS Expert Review Green Victorian Clinical Genetics Services Phenotypes DESBUQUOIS DYSPLASIA 2 615777 Tags
Amber Amber List (moderate evidence)	FAM20B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes FAM20B GLYCOSAMINOGLYCAN XYLOSYLKINASE 611063 Tags

Downloads

Download lists

Download Version