ITM2B

integral membrane protein 2B
OMIM: 603904, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green ITM2B in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Cerebral amyloid angiopathy MONDO:0005620
Green ITM2B in Incidentalome Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Dementia, familial British MIM#176500 Dementia, familial Danish MIM#117300 Tags adult onset neurodegenerative
Green ITM2B in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green ITM2B in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Royal Melbourne Hospital Phenotypes Cerebellar ataxia, cataract, deafness, and dementia or psychosis Danish familial dementia
Red ITM2B in Congenital Stationary Night Blindness Level 2: Ophthalmological disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MIM#616079
Amber ITM2B in Leukodystrophy Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Other Expert Review Amber Expert Review Amber Other Phenotypes ABri amyloidosis MONDO:0008306
Green ITM2B in Incidentalome_PREGEN_DRAFT Version 1.0	0 reviews	Unknown	Sources NSW Health Pathology Expert Review Green
Red ITM2B in Congenital nystagmus Level 2: Ophthalmological disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Expert list Phenotypes Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MIM#616079
Green ITM2B in Cerebral amyloid angiopathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Cerebral amyloid angiopathy MONDO:0005620