Adult onset neurodegenerative disorder
Gene: TYROBP
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy is characterized by presenile dementia , onset in early adulthood.>3 casesCreated: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dementia
Profound dementia and death usually occurs by age 50 yearsCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dementia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: TYROBP were changed from Dementia to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, OMIM:221770
Source Wessex and West Midlands GLH was added to TYROBP.
Publications for gene TYROBP were changed from 15049507 to 12370476; 15049507; 10888890
Source Yorkshire and North East GLH was added to TYROBP.
Source NHS GMS was added to TYROBP.
Source London North GLH was added to TYROBP.
Louise Daugherty: Comment on phenotypes: amended
gene: TYROBP was added gene: TYROBP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: TYROBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TYROBP were set to 15049507 Phenotypes for gene: TYROBP were set to Dementia