Genetic epilepsy syndromesGene: GATM
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Red.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Perhaps test via an alternative pathway. AR cerebral creatine defic syndrome 3 - on OMIM no mention of associated epilepsy/seizure phenotype.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Cerebral creatine deficiency syndrome 3, 612718
"AGAT" was submitted by an expert, which is most likely to be this HGNC-approved symbol.
Created: 1 Jul 2015, 3:16 p.m.
Phenotypes for gene: GATM were changed from to Cerebral creatine deficiency syndrome 3, 612718
Mode of inheritance for gene: GATM was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GATM were set to
Source Wessex and West Midlands GLH was added to GATM.
Source NHS GMS was added to GATM.
Ellen McDonagh: "AGAT" was submitted by an exp
GATM was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert
GATM was created by Sarah Leigh