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| Optic Atrophy v0.50 | NBAS | Zornitza Stark Marked gene: NBAS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.50 | NBAS | Zornitza Stark Added comment: Comment when marking as ready: Also note individuals in DECIPHER with eye phenotypes and bi-allelic variants but unpublished and also unclear if optic atrophy. Borderline Green/Amber for optic atrophy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.50 | NBAS | Zornitza Stark Gene: nbas has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.50 | NBAS | Zornitza Stark Classified gene: NBAS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.50 | NBAS | Zornitza Stark Gene: nbas has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v0.44 | NBAS |
Elena Savva gene: NBAS was added gene: NBAS was added to Optic Atrophy. Sources: Expert Review Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NBAS were set to PMID: 20577004; 26286438 Phenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly Review for gene: NBAS was set to GREEN Added comment: PMID: 20577004 - Study of 30 Yakut families found ALL had OA, 33/34 patients had the same homozygous missense*, founder very likely PMID: 26286438 - 1 patient chet for a PTC and missense w/ AO. Second patient (also chet PTC/missense) had NO OA Sources: Expert Review |
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