Hereditary ataxia with onset in adulthood
Gene: DAB1
SCA37. Several families. Unstable pentanucleotide repeat insertion. Spanish founder mutation.Created: 27 Apr 2019, 7:39 p.m.
As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 1 Aug 2019, 3:43 p.m. | Last Modified: 1 Aug 2019, 3:43 p.m.
Panel Version: 1.188
New gene added by Wessex and West Midlands GLH and London North GLH. Gene and Green rating to be discussed by the Neurology Test Group in July 2019 - since this relates to repeat STR entity and not a gene entity. DAB1 STR has not yet been validated by the pipeline.Created: 19 Jun 2019, 12:25 p.m.
Review and rating submitted byJames Polke (London North GLH), on behalf of London North GLH for GMS Neurology specialist test groupCreated: 27 Apr 2019, 8:55 p.m.
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.Created: 15 Apr 2019, 10:21 a.m.
Associated with a ATTTC repeat insertion within the 5' UTRCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 37, 615945
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Source London North GMS was added to DAB1.
Added phenotypes Spinocerebellar ataxia 37, 615945 for gene: DAB1
Source NHS GMS was added to DAB1.
Source Wessex and West Midlands GLH was added to DAB1.
Louise Daugherty: Comment on phenotypes: Implica
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 Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,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 Mode of pathogenicity for gene: DAB1 was set to Other - please provide details in the comments