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Early onset or syndromic epilepsy v1.191 NDUFA10 Rebecca Foulger Source Wessex and West Midlands GLH was added to NDUFA10.
Early onset or syndromic epilepsy v1.190 NDUFA10 Rebecca Foulger Source NHS GMS was added to NDUFA10.
Early onset or syndromic epilepsy v1.189 NDUFA10 Rebecca Foulger reviewed gene: NDUFA10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 NDUFA10 Tracy Lester reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: ; Publications: 21150889, 30423443; Phenotypes: Mitochondrial complex I deficiency, nuclear type 22, 618243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1190 NDUFA10 Ivone Leong Classified gene: NDUFA10 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1190 NDUFA10 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. Both OMIM and Gene2Phenotype have confirmed that NDUFA10 is associated with Leigh syndrome, and both have listed seizures as a phenotype.
There are 3 studies (PMID: 21150889; 26741492; 28247337) reporting 3 patients who have different variants in the NDUFA10 gene and have seizures.
Early onset or syndromic epilepsy v0.1190 NDUFA10 Ivone Leong Gene: ndufa10 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1189 NDUFA10 Ivone Leong Classified gene: NDUFA10 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1189 NDUFA10 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. Both OMIM and Gene2Phenotype confirm that NDUFA10 is associated with Leigh syndrome and both databases list seizures as a phenotype.
There are 3 studies (PMID: 21150889, 26741492, 28247337) describing 3 patients who have different variants in NDUFA10 who have seizures.
Early onset or syndromic epilepsy v0.1189 NDUFA10 Ivone Leong Gene: ndufa10 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1188 NDUFA10 Ivone Leong Marked gene: NDUFA10 as ready
Early onset or syndromic epilepsy v0.1188 NDUFA10 Ivone Leong Gene: ndufa10 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1188 NDUFA10 Ivone Leong Publications for gene: NDUFA10 were set to
Early onset or syndromic epilepsy v0.1187 NDUFA10 Ivone Leong Mode of inheritance for gene: NDUFA10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1186 NDUFA10 Ivone Leong Phenotypes for gene: NDUFA10 were changed from to Leigh syndrome, 256000
Early onset or syndromic epilepsy NDUFA10 Zornitza Stark reviewed gene: NDUFA10
Early onset or syndromic epilepsy NDUFA10 Sarah Leigh Added gene to panel