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| Deafness_Isolated v1.46 | ATP11A | Zornitza Stark Phenotypes for gene: ATP11A were changed from Deafness, autosomal dominant 84 MIM#619810 to Deafness, autosomal dominant 84, MIM# 619810; Auditory neuropathy, autosomal dominant 2, MIM# 620384 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.45 | ATP11A | Zornitza Stark Publications for gene: ATP11A were set to 35278131 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.44 | ATP11A | Zornitza Stark Classified gene: ATP11A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.44 | ATP11A | Zornitza Stark Gene: atp11a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.43 | ATP11A | Zornitza Stark reviewed gene: ATP11A: Rating: GREEN; Mode of pathogenicity: None; Publications: 35278131; Phenotypes: Deafness, autosomal dominant 84, MIM# 619810, Auditory neuropathy, autosomal dominant 2, MIM# 620384; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.37 | ATP11A | Chern Lim reviewed gene: ATP11A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36300302; Phenotypes: Deafness, autosomal dominant 84 (MIM#619810); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.27 | ATP11A | Zornitza Stark Marked gene: ATP11A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.27 | ATP11A | Zornitza Stark Gene: atp11a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.27 | ATP11A | Zornitza Stark Mode of inheritance for gene: ATP11A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.26 | ATP11A | Zornitza Stark Classified gene: ATP11A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.26 | ATP11A | Zornitza Stark Gene: atp11a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.25 | ATP11A |
Paul De Fazio changed review comment from: Three families described with autosomal dominant non-syndromic deafness: A Canadian family of European ancestry was described with a novel 3'UTR variant in ATP11A. RNA studies showed the retention of 153bp of intronic sequence in the 3'UTR. Variant was present in 17 affected and absent in 19 unaffected individuals. Two Jewish Israeli families, one originating from Uzbekistan and one from Afghanistan, described with the same splice variant. RNA studies confirmed extension of the penultimate exon and a PTC (not NMD predicted). Variant segregated in 8 affected individuals, absent from 3 tested unaffected individuals. Sources: Literature; to: Three families described with autosomal dominant non-syndromic deafness: A Canadian family of European ancestry was described with a novel variant affecting splicing of the 3'UTR of one isoform of ATP11A. RNA studies showed the retention of 153bp of intronic sequence in the 3'UTR. Other isoforms may be variably affected. The variant is deep intronic in the two RefSeq transcripts. Variant was present in 17 affected and absent in 19 unaffected individuals. Two Jewish Israeli families, one originating from Uzbekistan and one from Afghanistan, described with the same splice variant. RNA studies confirmed extension of the penultimate exon and a PTC (not NMD predicted). Variant segregated in 8 affected individuals, absent from 3 tested unaffected individuals. Sources: Literature |
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| Deafness_Isolated v1.25 | ATP11A |
Paul De Fazio gene: ATP11A was added gene: ATP11A was added to Deafness_Isolated. Sources: Literature Mode of inheritance for gene: ATP11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATP11A were set to 35278131 Phenotypes for gene: ATP11A were set to Deafness, autosomal dominant 84 MIM#619810 Review for gene: ATP11A was set to AMBER gene: ATP11A was marked as current diagnostic Added comment: Three families described with autosomal dominant non-syndromic deafness: A Canadian family of European ancestry was described with a novel 3'UTR variant in ATP11A. RNA studies showed the retention of 153bp of intronic sequence in the 3'UTR. Variant was present in 17 affected and absent in 19 unaffected individuals. Two Jewish Israeli families, one originating from Uzbekistan and one from Afghanistan, described with the same splice variant. RNA studies confirmed extension of the penultimate exon and a PTC (not NMD predicted). Variant segregated in 8 affected individuals, absent from 3 tested unaffected individuals. Sources: Literature |
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