Arthrogryposis
Gene: PIEZO2EnsemblGeneIds (GRCh38): ENSG00000154864
EnsemblGeneIds (GRCh37): ENSG00000154864
OMIM: 613629, Gene2Phenotype
PIEZO2 is in 13 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Bi-allelic variants: more than 5 unrelated families reported.
Mono-allelic variants:
DA5, more than 20 families reported.
DA3, more than 10 families reported, R2686H is recurrent.Created: 27 Apr 2022, 4:08 a.m. | Last Modified: 27 Apr 2022, 4:08 a.m.
Panel Version: 0.337
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, distal, type 3 (MIM#114300); Arthrogryposis, distal, type 5 (MIM#108145); Arthrogryposis, distal, with impaired proprioception and touch, MIM# 617146
Publications
Ain Roesley (Victorian Clinical Genetics Services)
PMID: 30941898; total of 9 unrelated familiesCreated: 3 Mar 2020, 12:04 a.m. | Last Modified: 3 Mar 2020, 12:04 a.m.
Panel Version: 0.22
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, distal, with impaired proprioception and touch (MIM # 617146)
Publications
- PMID: 30941898
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Arthrogryposis, distal, type 3 (MIM#114300)
- Arthrogryposis, distal, type 5 (MIM#108145)
- Arthrogryposis, distal, with impaired proprioception and touch, MIM# 617146
- OMIM
- 613629
- Clinvar variants
- Variants in PIEZO2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Clefting disorders
- Additional findings_Paediatric
- Prepair 1000+
- Blepharophimosis
- Arthrogryposis
- Mendeliome
- BabyScreen+ newborn screening
- Aortopathy_Connective Tissue Disorders
- Intellectual disability syndromic and non-syndromic
- Congenital ophthalmoplegia
- Callosome
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PIEZO2 were changed from Arthrogryposis, distal, with impaired proprioception and touch (MIM # 617146) to Arthrogryposis, distal, type 3 (MIM#114300); Arthrogryposis, distal, type 5 (MIM#108145); Arthrogryposis, distal, with impaired proprioception and touch, MIM# 617146
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PIEZO2 were set to 30941898
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: PIEZO2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: piezo2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PIEZO2 were changed from to Arthrogryposis, distal, with impaired proprioception and touch (MIM # 617146)
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PIEZO2 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: PIEZO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PIEZO2 was added gene: PIEZO2 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PIEZO2 was set to Unknown