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| Intellectual disability - microarray and sequencing v3.220 | NDUFAF1 | Arina Puzriakova Classified gene: NDUFAF1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.220 | NDUFAF1 | Arina Puzriakova Added comment: Comment on list classification: Additional case of ID required before inclusion of NDUFAF1 on a diagnostic panel (added to watchlist). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.220 | NDUFAF1 | Arina Puzriakova Gene: ndufaf1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.219 | NDUFAF1 | Arina Puzriakova Tag watchlist tag was added to gene: NDUFAF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.219 | NDUFAF1 | Arina Puzriakova reviewed gene: NDUFAF1: Rating: ; Mode of pathogenicity: None; Publications: 17557076, 21931170, 24963768; Phenotypes: Mitochondrial complex I deficiency, nuclear type 11, 618234; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.3 | NDUFAF1 |
Zornitza Stark gene: NDUFAF1 was added gene: NDUFAF1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: NDUFAF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF1 were set to 17557076; 21931170; 24963768 Phenotypes for gene: NDUFAF1 were set to Mitochondrial complex I deficiency, nuclear type 11, MIM#618234 Review for gene: NDUFAF1 was set to GREEN gene: NDUFAF1 was marked as current diagnostic Added comment: Three unrelated families described, DD/ID part of the phenotype, specifically mentioned in two families, child in third family died in infancy from HOCM. Sources: Expert list |
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