Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Fetal anomalies v0.3496 NDUFAF2 Zornitza Stark Marked gene: NDUFAF2 as ready
Fetal anomalies v0.3496 NDUFAF2 Zornitza Stark Gene: ndufaf2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3496 NDUFAF2 Zornitza Stark Phenotypes for gene: NDUFAF2 were changed from LEIGH SYNDROME to Mitochondrial complex I deficiency, nuclear type 10, MIM#618233
Fetal anomalies v0.3495 NDUFAF2 Zornitza Stark Publications for gene: NDUFAF2 were set to
Fetal anomalies v0.3494 NDUFAF2 Zornitza Stark Classified gene: NDUFAF2 as Red List (low evidence)
Fetal anomalies v0.3494 NDUFAF2 Zornitza Stark Gene: ndufaf2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3493 NDUFAF2 Zornitza Stark changed review comment from: At least four unrelated families reported, complex neurological presentation with optic atrophy, nystagmus, ataxia in some, others described as ventilator-dependent. ID is unlikely to be the presenting or main feature.; to: At least four unrelated families reported, complex neurological presentation with optic atrophy, nystagmus, ataxia in some, others described as ventilator-dependent. Clinical presentation is typically post-natal.
Fetal anomalies v0.3493 NDUFAF2 Zornitza Stark edited their review of gene: NDUFAF2: Changed rating: RED
Fetal anomalies v0.0 NDUFAF2 Zornitza Stark gene: NDUFAF2 was added
gene: NDUFAF2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF2 were set to LEIGH SYNDROME