Hereditary ataxia with onset in adulthood
Gene: RELN
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
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.
No longer reported as part of our panel as found to be VERY polymorphic and no positive cases identified. From the literature it looks like there have been three families reported with a form of lissencephaly which includes cerebellar atrophy. On balance think more suited to other panels - those were lissencephaly is a key featureCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lissencephaly 2, 257320
Added phenotypes Lissencephaly 2, 257320 for gene: RELN
Source NHS GMS was added to RELN.
Source Wessex and West Midlands GLH was added to RELN.
Louise Daugherty: Comment on phenotypes: Implica
gene: RELN was added gene: RELN was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: RELN was set to BIALLELIC, autosomal or pseudoautosomal