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Early onset or syndromic epilepsy v2.409 GALC Arina Puzriakova Phenotypes for gene: GALC were changed from Krabbe disease, 245200; seizures; CALC deficiency; Galactosylceramide beta-galactosidase deficiency to Krabbe disease, OMIM:245200
Early onset or syndromic epilepsy v1.191 GALC Rebecca Foulger Source Wessex and West Midlands GLH was added to GALC.
Early onset or syndromic epilepsy v1.190 GALC Rebecca Foulger Source NHS GMS was added to GALC.
Early onset or syndromic epilepsy v1.189 GALC Rebecca Foulger reviewed gene: GALC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 GALC Tracy Lester reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: ; Publications: 25260228; Phenotypes: Krabbe disease, 245200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1051 GALC Louise Daugherty Marked gene: GALC as ready
Early onset or syndromic epilepsy v0.1051 GALC Louise Daugherty Gene: galc has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1051 GALC Louise Daugherty Classified gene: GALC as Green List (high evidence)
Early onset or syndromic epilepsy v0.1051 GALC Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association
Early onset or syndromic epilepsy v0.1051 GALC Louise Daugherty Gene: galc has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1049 GALC Louise Daugherty Added comment: Comment on publications: Added publications to support upgrading of the gene to Green
Early onset or syndromic epilepsy v0.1049 GALC Louise Daugherty Publications for gene: GALC were set to
Early onset or syndromic epilepsy v0.1048 GALC Louise Daugherty Added comment: Comment on mode of inheritance: changed MOI from external clinical review and publications
Early onset or syndromic epilepsy v0.1048 GALC Louise Daugherty Mode of inheritance for gene: GALC was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1047 GALC Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel
Early onset or syndromic epilepsy v0.1047 GALC Louise Daugherty Phenotypes for gene: GALC were changed from to Krabbe disease, 245200; seizures; CALC deficiency; Galactosylceramide beta-galactosidase deficiency
Early onset or syndromic epilepsy v0.1037 GAMT Louise Daugherty Added comment: Comment on phenotypes: Not added the expert review phenotype Krabbe disease as it related to the previously reviewed gene GALC. Cerebral creatine deficiency syndrome 2, 612736 is the disorder associated to variants of this gene, and is relevant for inclusion on the Genetic Epilepsy Syndromes panel
Early onset or syndromic epilepsy GALC Zornitza Stark reviewed gene: GALC
Early onset or syndromic epilepsy GALC Sarah Leigh Added gene to panel