Description
Created and maintained by VCGS

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
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