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  2. Congenital ophthalmoplegia
  3. PIEZO2
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Congenital ophthalmoplegia

Gene: PIEZO2

Green List (high evidence)
PIEZO2 (piezo type mechanosensitive ion channel component 2)
EnsemblGeneIds (GRCh38): ENSG00000154864
EnsemblGeneIds (GRCh37): ENSG00000154864
OMIM: 613629, Gene2Phenotype
PIEZO2 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Ophthalmoplegia is an associated feature.
Sources: Expert list
Created: 11 Nov 2020, 7:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Arthrogryposis, distal, type 5, MIM# 108145; Arthrogryposis, distal, type 3, MIM# 114300

Created: 11 Nov 2020, 7:24 a.m.

Panel version: 0.40

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Arthrogryposis, distal, type 5, MIM# 108145
  • Arthrogryposis, distal, type 3, MIM# 114300
OMIM
613629
Clinvar variants
Variants in PIEZO2
Penetrance
None
Panels with this gene

History Filter Activity

11 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: piezo2 has been classified as Green List (High Evidence).

11 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: piezo2 has been classified as Green List (High Evidence).

11 Nov 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PIEZO2 was added gene: PIEZO2 was added to Congenital ophthalmoplegia. Sources: Expert list Mode of inheritance for gene: PIEZO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PIEZO2 were set to Arthrogryposis, distal, type 5, MIM# 108145; Arthrogryposis, distal, type 3, MIM# 114300 Review for gene: PIEZO2 was set to GREEN