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Early onset or syndromic epilepsy v1.468 NDUFA1 Rebecca Foulger Added comment: Comment on mode of inheritance: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call 22nd November 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that MOI should be updated from XLR to XLD.
Early onset or syndromic epilepsy v1.468 NDUFA1 Rebecca Foulger Mode of inheritance for gene: NDUFA1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.211 NDUFA1 Rebecca Foulger Added comment: Comment on mode of inheritance: There is a case of female with variant and symptoms in PMID:21596602. (Mayr et al., 2011), but she does not have epilepsy but rather a metabolic defect. Therefore XLD is appropriate for metabolism panel but MOI is kept as XLR on this epilepsy panel for now.
Early onset or syndromic epilepsy v1.211 NDUFA1 Rebecca Foulger Mode of inheritance for gene: NDUFA1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v1.191 NDUFA11 Rebecca Foulger Source Wessex and West Midlands GLH was added to NDUFA11.
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 v1.191 NDUFA1 Rebecca Foulger Source Wessex and West Midlands GLH was added to NDUFA1.
Early onset or syndromic epilepsy v1.190 NDUFA11 Rebecca Foulger Source NHS GMS was added to NDUFA11.
Early onset or syndromic epilepsy v1.190 NDUFA10 Rebecca Foulger Source NHS GMS was added to NDUFA10.
Early onset or syndromic epilepsy v1.190 NDUFA1 Rebecca Foulger Source NHS GMS was added to NDUFA1.
Early onset or syndromic epilepsy v1.189 NDUFA11 Rebecca Foulger reviewed gene: NDUFA11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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 v1.189 NDUFA1 Rebecca Foulger reviewed gene: NDUFA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 NDUFA11 Tracy Lester reviewed gene: NDUFA11: Rating: AMBER; Mode of pathogenicity: ; Publications: 18306244; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, 618236 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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 v1.188 NDUFA1 Tracy Lester reviewed gene: NDUFA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19185523, 25356405; Phenotypes: Mitochondrial complex I deficiency, nuclear type 12, 301020; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v0.1478 NDUFA11 Sarah Leigh Classified gene: NDUFA11 as Red List (low evidence)
Early onset or syndromic epilepsy v0.1478 NDUFA11 Sarah Leigh Gene: ndufa11 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.1477 NDUFA11 Sarah Leigh Marked gene: NDUFA11 as ready
Early onset or syndromic epilepsy v0.1477 NDUFA11 Sarah Leigh Gene: ndufa11 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1477 NDUFA11 Sarah Leigh Publications for gene: NDUFA11 were set to
Early onset or syndromic epilepsy v0.1476 NDUFA11 Sarah Leigh Phenotypes for gene: NDUFA11 were changed from to Mitochondrial complex I deficiency 252010
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 v0.1185 NDUFA1 Ivone Leong Marked gene: NDUFA1 as ready
Early onset or syndromic epilepsy v0.1185 NDUFA1 Ivone Leong Gene: ndufa1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1185 NDUFA1 Ivone Leong Classified gene: NDUFA1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1185 NDUFA1 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. Both OMIM and Gene2Phenotype confirm that NDUFA1 is associated with Mitochondrial complex I deficiency and seizures is listed on both databases as a phenotype. There are three papers (PMID: 17262856,19185523, 29272804) reporting on 4 individuals with variants in the NDUFA1 gene and have seizures. There are currently 2 different NDUFA1 variants reported that are associated with Mitochondrial complex I deficiency.
Early onset or syndromic epilepsy v0.1185 NDUFA1 Ivone Leong Gene: ndufa1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1184 NDUFA1 Ivone Leong Publications for gene: NDUFA1 were set to
Early onset or syndromic epilepsy v0.1183 NDUFA1 Ivone Leong Mode of inheritance for gene: NDUFA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v0.1164 NDUFA1 Ivone Leong Phenotypes for gene: NDUFA1 were changed from to Mitochondrial complex I deficiency, 252010
Early onset or syndromic epilepsy NDUFA10 Zornitza Stark reviewed gene: NDUFA10
Early onset or syndromic epilepsy NDUFA1 Zornitza Stark reviewed gene: NDUFA1
Early onset or syndromic epilepsy NDUFA1 Sarah Leigh Added gene to panel