PIEZO2

piezo type mechanosensitive ion channel component 2
OMIM: 613629, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Amber PIEZO2 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.100	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Marden-Walker syndrome (MIM#248700) Arthrogryposis, distal, type 3 (MIM#114300) Arthrogryposis, distal, type 5 (MIM#108145)
Green PIEZO2 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.427 Component of the following Super Panels: Neuromuscular Superpanel	2 reviews	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
Green PIEZO2 in Blepharophimosis Level 2: Ophthalmological disorders Version 1.3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Marden-Walker syndrome, MIM# 248700 Arthrogryposis, distal, type 5, MIM# 108145
Green PIEZO2 in Mendeliome Version 1.3512	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Marden-Walker syndrome (MIM#248700) Arthrogryposis, distal, type 3 (MIM#114300) Arthrogryposis, distal, type 5 (MIM#108145) Arthrogryposis, distal, with impaired proprioception and touch, MIM# 617146
Green PIEZO2 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.565	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Amber PIEZO2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Phenotypes Marden-Walker syndrome, MIM# 248700 Arthrogryposis, distal, type 3, MIM# 114300
Green PIEZO2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3), Autosomal recessive
Green PIEZO2 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Arthrogryposis, distal, type 5
Green PIEZO2 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes MWKS DA3, MARDEN-WALKER SYNDROME ARTHROGRYPOSIS, DISTAL, TYPE 3
Green PIEZO2 in Congenital ophthalmoplegia Level 2: Ophthalmological disorders Version 1.10	1 review	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
Green PIEZO2 in Fetal anomalies Version 1.465	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Marden-Walker syndrome, MIM# 248700 Arthrogryposis, distal, type 3, MIM# 114300
Green PIEZO2 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Arthrogryposis, distal, with impaired proprioception and touch, MIM#617146
Red PIEZO2 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Marden-Walker syndrome (MIM#248700) Arthrogryposis, distal, type 3 (MIM#114300) Arthrogryposis, distal, type 5 (MIM#108145) Arthrogryposis, distal, with impaired proprioception and touch, MIM# 617146