ITM2B

integral membrane protein 2B
OMIM: 603904, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green ITM2B in Early onset dementia (encompassing fronto-temporal dementia and prion disease) Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Phenotypes Dementia, familial British, OMIM:176500 ABri amyloidosis, MONDO:0008306 Dementia, familial Danish, OMIM:117300 ADan amyloidosis, MONDO:0007297
Red ITM2B in Familial cerebral small vessel disease Level 3: Arteriopathies Level 2: Cardiovascular disorders Version 1.17	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red UKGTN Radboud University Medical Center, Nijmegen Expert list Literature Phenotypes ischaemic stroke haemorrhagic stroke stroke spastic tetraparesis tetraparesis ementia, familial British 176500 Dementia, familial Danish 117300
Green ITM2B in Adult onset leukodystrophy Version 4.3 Latest signed off version: v4.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert list Phenotypes Dementia, familial British, OMIM:176500 ABri amyloidosis, MONDO:0008306 Dementia, familial Danish, OMIM:117300 ADan amyloidosis, MONDO:0007297
Green ITM2B in Adult onset neurodegenerative disorder Version 5.3 Latest signed off version: v5.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Dementia, familial British, OMIM:176500 ABri amyloidosis, MONDO:0008306 Dementia, familial Danish, OMIM:117300 ADan amyloidosis, MONDO:0007297
Red ITM2B in Retinal disorders Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 5.4 Latest signed off version: v5.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Red Expert list Phenotypes ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities (OMIM)