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 1.86	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 0.416	review	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 1.1	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 1.2302	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 0.540	review	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 1.63	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 0.109	review	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	review	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 0.260	review	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 1.8	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 1.313	review	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 1.1566	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 BabyScreen+ newborn screening Level 2: Screening Version 1.116	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