ATP2B2

ATPase plasma membrane Ca2+ transporting 2
OMIM: 108733, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green ATP2B2 in Mendeliome Version 1.2302	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Deafness, autosomal dominant 82, MIM# 619804 Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related
Green ATP2B2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.108 Component of the following Super Panels: Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related
Green ATP2B2 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.210	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Deafness, autosomal dominant 82, MIM# 619804 {Deafness, autosomal recessive 12, modifier of}, MIM# 601386
Green ATP2B2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related
Green ATP2B2 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.30 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related
Green ATP2B2 in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 0.272 Component of the following Super Panels: Dystonia_Superpanel Progressive Neurological Conditions Tremors_Superpanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related
Green ATP2B2 in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.67	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Phenotypes Deafness, autosomal dominant 82, MIM# 619804 {Deafness, autosomal recessive 12, modifier of}, MIM# 601386
Green ATP2B2 in Additional findings_Paediatric Level 2: Screening Version 0.278	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Deafness, childhood onset
Red ATP2B2 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Deafness, autosomal dominant 82, MIM# 619804