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| Hereditary ataxia with onset in adulthood v2.85 | GALC | Arina Puzriakova Phenotypes for gene: GALC were changed from Krabbe disease, 245200 to Krabbe disease, OMIM:245200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.182 | GALC | Louise Daugherty Phenotypes for gene: GALC were changed from KRABBE DISEASE, 245200 to Krabbe disease, 245200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.181 | GALC | Louise Daugherty Classified gene: GALC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.181 | GALC | Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: New gene and Green rating added to panel by Nick Beauchamp (Sheffield Diagnostic Genetics Service) on behalf of YNEGLH. The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.181 | GALC | Louise Daugherty Gene: galc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.178 | GALC |
Nick Beauchamp gene: GALC was added gene: GALC was added to Hereditary ataxia - adult onset. Sources: Expert Review Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALC were set to 26915362, 20886637 Phenotypes for gene: GALC were set to KRABBE DISEASE, 245200 Review for gene: GALC was set to GREEN gene: GALC was marked as current diagnostic Added comment: Unusual presentation but 5 member kindred presenting with predominant cerebellar ataxia (26915362) and two patients with spastic ataxia reported by Tappino et al 2010 (20886637). Further case report with patient developing progressive ataxia (doi: 10.5455/ijmsph.2014.150320141) Sources: Expert Review |
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