Gene Symbol:
PIEZO2
HGNC:26270
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
18p11.22-p11.21
Filters:

Ambry Genetics classifications

Marden-Walker syndrome
Submitted as: OMIM:248700
AD
07/17/2018
Evaluated
03/02/2021
Submitted
Gordon syndrome
Submitted as: OMIM:114300
AD
07/17/2018
Evaluated
03/02/2021
Submitted
arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
Submitted as: OMIM:108145
AD
07/17/2018
Evaluated
03/02/2021
Submitted
arthrogryposis, distal, with impaired proprioception and touch
Submitted as: OMIM:617146
AR
02/09/2017
Evaluated
03/02/2021
Submitted

Genomics England PanelApp classifications

Marden-Walker syndrome
Submitted as: OMIM:248700
AR
03/04/2020
Evaluated
03/31/2021
Submitted
connective tissue disorder
AR
03/04/2020
Evaluated
03/31/2021
Submitted

Illumina classifications

arthrogryposis, distal, with impaired proprioception and touch
AR
07/28/2020
Evaluated
10/15/2020
Submitted
Illumina
Evidence: The PIEZO2 gene is located on chromosome 18 at p11.22-p11.21 and encodes the piezo type mechanosensi... Read more
arthrogryposis, distal, with impaired proprioception and touch
Submitted as: OMIM:617146
AR
07/28/2020
Evaluated
10/27/2022
Submitted

Invitae classifications

arthrogryposis, distal, with impaired proprioception and touch
Submitted as: OMIM:617146
AR
05/27/2019
Evaluated
11/30/2023
Submitted
Gordon syndrome
Submitted as: OMIM:114300
AD
09/14/2023
Evaluated
11/30/2023
Submitted

Orphanet classifications

arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
Submitted as: Orphanet:1154
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Gordon syndrome
Submitted as: Orphanet:376
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Marden-Walker syndrome
Submitted as: Orphanet:2461
AR
09/14/2021
Evaluated
09/14/2021
Submitted

G2P classifications

Gordon syndrome
Submitted as: OMIM:114300
AD
07/22/2015
Evaluated
09/11/2023
Submitted

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