Adult onset neurodegenerative disorder
Gene: WDR73
Galloway-Mowat syndrome is a rare autosomal recessive neurodegenerative disorder characterized by infantile onset of microcephaly and central nervous system abnormalities resulting in severely delayed psychomotor development. RedCreated: 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
Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature; Galloway-Mowat syndrome 1, 251300
Onset in infancyCreated: 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
Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature; Galloway-Mowat syndrome 1, 251300
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.
Source Expert Review Red was added to WDR73. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source Wessex and West Midlands GLH was added to WDR73.
Source Yorkshire and North East GLH was added to WDR73.
Source NHS GMS was added to WDR73.
Source London North GLH was added to WDR73.
Louise Daugherty: Comment on phenotypes: amended
Phenotypes for gene: WDR73 were changed from Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature; Galloway Mowat Syndrome to Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature; Galloway-Mowat syndrome 1, 251300
Added phenotypes Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature for gene: WDR73
gene: WDR73 was added gene: WDR73 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR73 were set to Galloway Mowat Syndrome