Adult onset neurodegenerative disorder
Gene: DAB1
Point mutations not associated with SCA37Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 37, 615945
Comment on list classification: Prior to GLH sign off for this panel, DAB1 was discussed further by the specialist test group. It was agreed by all GLHs (Wessex and West Midlands GLH, Yorkshire and North East GLH, London North GLH) to downgrade this gene from Amber to Red. . Several cases - ATTTC 31-75n embedded within an ATTTT repeat. Unlikely to be picked up by WGS - RedCreated: 28 Nov 2019, 1:53 p.m. | Last Modified: 28 Nov 2019, 1:53 p.m.
Panel Version: 1.115
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 AmberCreated: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
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 from Anthony Dallosso (Bristol Genetics Laboratory), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 3:05 p.m.
Intronic ATTTC pentanucleotide repeat expansion. 4 Spanish SCA37 families (29939198 , abstract only(; 3 Portuguese SCA families with ATTTC expansion on shared haplotype (28686858). Founder effectCreated: 23 Apr 2019, 2:42 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 37, 615945
Gene: dab1 has been classified as Red List (Low Evidence).
Source Expert Review Amber was added to DAB1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Source Yorkshire and North East GLH was added to DAB1.
Publications for gene: DAB1 were set to 28686858
Source NHS GMS was added to DAB1.
Source South West GLH was added to DAB1.
Rebecca Foulger: Gene awaiting curator evaluati
Tag nucleotide-repeat-expansion tag was added to gene: DAB1. Tag founder-effect tag was added to gene: DAB1. Tag currently-ngs-unreportable tag was added to gene: DAB1.
gene: DAB1 was added gene: DAB1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: DAB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DAB1 were set to 28686858 Phenotypes for gene: DAB1 were set to Spinocerebellar ataxia 37 615945