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Skeletal dysplasia

Gene: FZD2

Green List (high evidence)

FZD2 (frizzled class receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000180340
EnsemblGeneIds (GRCh37): ENSG00000180340
OMIM: 600667, Gene2Phenotype
FZD2 is in 2 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Mesomelic and rhizo-mesomelic dysplasias gp of SD - >3 cases reported. Robinow-like phenotype.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autosomal dominant omodysplasia type 2 164745

Publications

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: More than 3 cases with variants in FZD2 in patients with a relevant phenotype.
Created: 17 Jul 2019, 11:23 a.m. | Last Modified: 17 Jul 2019, 11:23 a.m.
Panel Version: 1.177
Associated with Omodysplasia 2 (164745) in OMIM.

PMID: 25759469 - Saal et al 2015 - 1 family. proband with omodysplasia, her unaffected parents and her affected daughter. Identified a de novo mutation (c.1644G>A, p.Trp548*) in FZD2 in the proband and her daughter that was not found in unaffected family members. Show reduced ability of this mutant form of FZD2 to interact with its downstream target DISHEVELLED. Furthermore, expressing the mutant form of FZD2 in vitro is not able to facilitate the cellular response to canonical Wnt signaling like wild-type FZD2.

PMID: 29230162 - Türkmen et al 2017 - 1 patient. A heterozygous de novo mutation (G434V) in the frizzled class receptor 2 (FZD2) gene in a patient with distinct facial features including hypertelorism, bilateral cleft lip/palate, short nose with a broad nasal bridge, microretrognathia, and bilateral shortness of the upper limbs, first metacarpal bones, and middle phalanges of the 5th digits.

PMID: 29383830 - invalid pubmed id

PMID: 29383834 - Nagasaki et al 2018 - 1 patient. 16-year-old boy with OMOD2 or Robinow syndrome-like phenotype. Molecular analysis identified a de novo, heterozygous, nonsense mutation (c.1640C>A, p.S547*) in FZD2.

PMID: 30455931 - Warren et al 2018 - 2 patients. Presented are two patients with autosomal dominant omodysplasia and mutations in the FZD2 gene. Patient 1 has a p.Trp548* alteration previously reported. Patient 2 has missense alteration p.Gly434Val also previously reported. The phenotypes of these patients overlap with what has been previously reported, though patient 2 also presented with intellectual disability which is not typical.

Total of 4 cases
Created: 8 May 2019, 2:24 p.m. | Last Modified: 17 Jul 2019, 11:22 a.m.
Panel Version: 1.176
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: FZD2; Initial rating suggestion: Green
Created: 6 Mar 2019, 11:36 a.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Not associated with phenotype in OMIM nor G2P. Single variant reported (2015)
Created: 28 Jul 2016, 12:26 p.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:04 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autosomal dominant omodysplasia 164745

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Autosomal dominant omodysplasia type 2 164745
  • Autosomal dominant omodysplasia 164745
OMIM
600667
Clinvar variants
Variants in FZD2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Jul 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: fzd2 has been classified as Green List (High Evidence).

6 May 2019, Gel status: 1

Set Phenotypes, Set publications

Eleanor Williams (Genomics England Curator)

Added phenotypes Autosomal dominant omodysplasia type 2 164745 for gene: FZD2 Publications for gene FZD2 were changed from 25759469 to 29230162; 30455931; 29383834; 29383830; 25759469

6 Mar 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to FZD2.

9 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

28 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Jul 2016, Gel status: 0

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for FZD2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

28 Jul 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for FZD2 were set to Autosomal dominant omodysplasia 164745

28 Jul 2016, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for FZD2 were set to 25759469

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

FZD2 was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

FZD2 was created by sleigh