Adult onset neurodegenerative disorder
Gene: RAB39B
Waisman syndrome is an X-linked neurologic disorder characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease. >3 cases according to HGMDpro, though is a developmental disorder with other signs manifesting in childhood - red/green?Created: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
early-onset parkinsonism and intellectual disability; ?Waisman syndrome
Associated with Intellectual DisabilityCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
early-onset parkinsonism and intellectual disability; ?Waisman syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
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.
Phenotypes for gene: RAB39B were changed from early-onset parkinsonism and intellectual disability; ?Waisman syndrome to early-onset parkinsonism and intellectual disability; Waisman syndrome, OMIM:311510
Source Expert Review Red was added to RAB39B. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source Wessex and West Midlands GLH was added to RAB39B.
Publications for gene RAB39B were changed from 26399558; 27066548; 27459931; 2639955; 25434005; 27694831 to 27066548; 27694831; 26399558; 27459931; 28851564; 2639955; 25434005
Source Yorkshire and North East GLH was added to RAB39B.
Source NHS GMS was added to RAB39B.
Source London North GLH was added to RAB39B.
Louise Daugherty: Comment on phenotypes: amended
gene: RAB39B was added gene: RAB39B was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: RAB39B were set to 26399558; 27066548; 27459931; 2639955; 25434005; 27694831 Phenotypes for gene: RAB39B were set to early-onset parkinsonism and intellectual disability; ?Waisman syndrome