| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Optic neuropathy v2.58 | NBAS | Ivone Leong Tag for-review was removed from gene: NBAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.58 | NBAS | Ivone Leong commented on gene: NBAS: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.57 | NBAS |
Ivone Leong Source Expert Review Green was added to NBAS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Optic neuropathy v2.9 | NBAS | Ivone Leong Classified gene: NBAS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.9 | NBAS | Ivone Leong Gene: nbas has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.8 | NBAS | Ivone Leong Classified gene: NBAS as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.8 | NBAS |
Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. NBAS is associated with an appropriate phenotype in OMIM and probably associated with an appropriate phenotype in Gene2Phenotype. PMID: 31015584 describes another unrelated case where patients has variant in NBAS and also had optic atrophy. PMID: 31761904 is a study that looked at defining the spectrum of phenotypes related to NBAS. There are > 3 cases of individuals with variants in NBAS who have optic atropy. Therefore, there is enough evidence for this gene to be Green. This gene will be made Green at the next major review. |
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| Optic neuropathy v2.8 | NBAS | Ivone Leong Gene: nbas has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.7 | NBAS | Ivone Leong Tag for-review tag was added to gene: NBAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.7 | NBAS | Ivone Leong Publications for gene: NBAS were set to 20577004; 26286438 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.6 | NBAS | Ivone Leong Phenotypes for gene: NBAS were changed from Short stature, optic nerve atrophy, and Pelger-Huet anomaly to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.3 | NBAS |
Zornitza Stark gene: NBAS was added gene: NBAS was added to Optic neuropathy. Sources: Expert list Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NBAS were set to 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: This gene causes two recessive phenotypes: OA is not a feature of the infantile liver failure syndrome. It is however a consistent feature of the second condition: Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800, which has predominantly been described in the Yakult. 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 and had OA. Second patient (also chet PTC/missense) had NO OA. Remains to be seen whether OA is an association with specific variants in this gene, and what the underlying mechanism for this is. Sources: Expert list |
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