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| Deafness_IsolatedAndComplex v0.352 | ABCC1 | Zornitza Stark Phenotypes for gene: ABCC1 were changed from Nonsyndromic hearing loss; Deafness-77, autosomal dominant (DFNA77), MIM#618915 to Nonsyndromic hearing loss; Deafness-77, autosomal dominant (DFNA77), MIM#618915 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.352 | ABCC1 | Zornitza Stark Phenotypes for gene: ABCC1 were changed from Nonsyndromic hearing loss (PMID: 31273342) to Nonsyndromic hearing loss; Deafness-77, autosomal dominant (DFNA77), MIM#618915 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.351 | ABCC1 | Zornitza Stark edited their review of gene: ABCC1: Changed rating: AMBER; Changed phenotypes: Deafness-77, autosomal dominant (DFNA77), MIM#618915 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.341 | ABCC1 | Zornitza Stark Marked gene: ABCC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.341 | ABCC1 | Zornitza Stark Added comment: Comment when marking as ready: Keep as Amber for now in light of gnomad data about one of the variants. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.341 | ABCC1 | Zornitza Stark Gene: abcc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.341 | ABCC1 | Zornitza Stark Classified gene: ABCC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.341 | ABCC1 | Zornitza Stark Gene: abcc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.340 | ABCC1 | Zornitza Stark Classified gene: ABCC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.340 | ABCC1 | Zornitza Stark Gene: abcc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.339 | ABCC1 |
Crystle Lee gene: ABCC1 was added gene: ABCC1 was added to Deafness. Sources: Expert Review Mode of inheritance for gene: ABCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ABCC1 were set to 31273342 Phenotypes for gene: ABCC1 were set to Nonsyndromic hearing loss (PMID: 31273342) Review for gene: ABCC1 was set to GREEN Added comment: Total of 3 variants reported in 3 families, including 1 which segregates in a large family (10 affected) PMID: 31273342; Li 2019: Reported 3 different het missense in 3 families with postlingual ADNSHL. 1 missense segregated in a large Chinese family. This variant is present in gnomAD (10 hets), but onset noted to be in 2nd or 3rd decade of life. Functional studies performed. Other 2 variants reported absent in gnomAD. Sources: Expert Review |
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