Adult onset neurodegenerative disorder
Gene: AP4B1
autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development - a severe neurodegenerative disorder beginning in infancy. >3 cases but all childhood onset - red?Created: 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
Spastic paraplegia 47, autosomal recessive
Onset at birthCreated: 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
Spastic paraplegia 47, autosomal recessive
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: AP4B1 were changed from Spastic paraplegia 47, autosomal recessive to Spastic paraplegia 47, autosomal recessive, OMIM:614066; Hereditary spastic paraplegia 47, MONDO:0013551
Source Expert Review Red was added to AP4B1. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source Wessex and West Midlands GLH was added to AP4B1.
Source Yorkshire and North East GLH was added to AP4B1.
Source NHS GMS was added to AP4B1.
Source London North GLH was added to AP4B1.
Louise Daugherty: Comment on phenotypes: amended
gene: AP4B1 was added gene: AP4B1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4B1 were set to Abou Jamra et al. (2011) i Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive