ITPR1

inositol 1,4,5-trisphosphate receptor type 1
OMIM: 147265, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green ITPR1 in Eye Anterior Segment Abnormalities Level 2: Ophthalmological disorders Version 1.12	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Gillespie syndrome, MIM# 206700
Green ITPR1 in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 1.78	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Gillespie syndrome, MIM# 206700
Green ITPR1 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.389	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360
Green ITPR1 in Mendeliome Version 1.2302	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Gillespie syndrome, MIM# 206700 Spinocerebellar ataxia 15 MIM#606658 Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360
Green ITPR1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.572	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green ITPR1 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 Genetic Health Queensland Phenotypes aniridia-cerebellar ataxia-intellectual disability syndrome MONDO:0008795 spinocerebellar ataxia type 29 MONDO:0007298
Green ITPR1 in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.18 Component of the following Super Panels: Ataxia_Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Gillespie syndrome, 206700 Spinocerebellar ataxia 29 Spinocerebellar ataxia 29, 117360 Spinocerebellar ataxia 15 Spinocerebellar ataxia 15, 606658
Green ITPR1 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	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 15 MIM#606658 Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360
Green ITPR1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Gillespie syndrome, 206700 (3), Autosomal recessive
Red ITPR1 in Fetal anomalies Version 1.313	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Spinocerebellar ataxia 15 MIM#606658 Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360 Gillespie syndrome, MIM# 206700
Green ITPR1 in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Gillespie syndrome, MIM#206700
Green ITPR1 in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Gillespie syndrome, 206700 (3), Autosomal recessive